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 MRPL20 55052 genome.wustl.edu 37 1 1342349 1342349 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017971.3 -1 reviewed p.V46 0.684 46 0% 95 10.5% 318 11% - - - HMMPfam_Ribosomal_L20 ATAD3C 219293 genome.wustl.edu 37 1 1386072 1386072 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039211.2 +1 validated p.K3N 1.000 7 0.000 16 0.375 0 - unknown(0) deleterious(0) - NULL ATAD3B 83858 genome.wustl.edu 37 1 1417923 1417923 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031921.4 +1 provisional e7-2 1.000 48 0% 113 51.3% 2 100% - - - - KIAA1751 85452 genome.wustl.edu 37 1 1900252 1900252 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080484.1 -1 predicted p.K356T 0.968 295 0% 217 43.8% 0 - possibly_damaging(0.563) tolerated(0.05) deleterious(0.538) NULL PRKCZ 5590 genome.wustl.edu 37 1 2106744 2106744 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002744.4 +1 reviewed p.W523G 1.000 20 0% 28 64.3% 44 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TK_X,superfamily_Kinase_like TPRG1L 127262 genome.wustl.edu 37 1 3545083 3545083 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182752.3 +1 validated p.I245 0.992 18 0% 130 20% 44 13.6% - - - NULL C1orf174 339448 genome.wustl.edu 37 1 3807506 3807506 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207356.2 -1 validated p.S82Y 0.016 75 0% 68 17.6% 51 7.8% possibly_damaging(0.902) deleterious(0) deleterious(0.801) NULL NPHP4 261734 genome.wustl.edu 37 1 5964828 5964828 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015102.2 -1 reviewed p.K664N 0.434 130 0% 39 30.8% 10 10% benign(0.028) tolerated(0.08) neutral(0.301) NULL CHD5 26038 genome.wustl.edu 37 1 6189123 6189123 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015557.1 -1 provisional p.S1132G 1.000 20 0% 10 50% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 CHD5 26038 genome.wustl.edu 37 1 6196844 6196844 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015557.1 -1 provisional p.E840K 0.958 42 0% 61 55.7% 0 - benign(0.055) tolerated(0.77) neutral(0.005) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 CHD5 26038 genome.wustl.edu 37 1 6204115 6204115 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015557.1 -1 provisional p.D635N 1.000 92 0% 76 38.2% 0 - benign(0.002) tolerated(0.38) neutral(0.018) HMMPfam_Chromo,HMMSmart_CHROMO,superfamily_SSF52540 CHD5 26038 genome.wustl.edu 37 1 6206805 6206805 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015557.1 -1 provisional p.E504* 1.000 19 0% 18 27.8% 0 - - - - HMMSmart_CHROMO,superfamily_Chromodomain-like RPL22 6146 genome.wustl.edu 37 1 6246855 6246855 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000983.3 -1 reviewed p.K88N 1.000 49 0% 116 43.1% 1409 46.5% possibly_damaging(0.866) deleterious(0.01) deleterious(0.741) HMMPfam_Ribosomal_L22e NOL9 79707 genome.wustl.edu 37 1 6592117 6592117 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024654.4 -1 validated p.R520* 1.000 131 0% 144 45.8% 16 25% - - - HMMPfam_NUC156 ZBTB48 3104 genome.wustl.edu 37 1 6641117 6641117 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005341.2 +1 validated p.E150* 0.295 20 0% 30 43.3% 3 33.3% - - - NULL KLHL21 9903 genome.wustl.edu 37 1 6655538 6655538 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000377663 -1 known p.F503V 0.000 62 0% 75 52% 0 - benign(0.012) tolerated(0.54) neutral(0.008) NULL PHF13 148479 genome.wustl.edu 37 1 6680292 6680292 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153812.2 +1 validated p.E191* 1.000 11 0% 26 30.8% 13 7.6% - - - NULL DNAJC11 55735 genome.wustl.edu 37 1 6727783 6727783 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018198.3 -1 validated p.R122* 1.000 70 0% 46 47.8% 23 4.3% - - - NULL CAMTA1 23261 genome.wustl.edu 37 1 7796507 7796507 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015215.1 +1 validated p.L1057S 0.998 173 0% 71 16.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat PER3 8863 genome.wustl.edu 37 1 7848256 7848256 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016831.1 +1 reviewed p.A181V 0.002 61 0% 77 46.8% 5 80% possibly_damaging(0.575) deleterious(0.01) deleterious(0.603) HMMSmart_PAS PER3 8863 genome.wustl.edu 37 1 7869050 7869050 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016831.1 +1 reviewed p.L411I 1.000 82 0% 145 49.7% 2 0% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL RERE 473 genome.wustl.edu 37 1 8422899 8422899 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042681.1 -1 reviewed p.S582 0.998 154 0% 62 48.4% 58 46.5% - - - HMMPfam_Atrophin-1 CLSTN1 22883 genome.wustl.edu 37 1 9791424 9791424 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009566.1 -1 validated p.V863A 1.000 51 0% 30 43.3% 160 47.5% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL UBE4B 10277 genome.wustl.edu 37 1 10207095 10207095 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105562.1 +1 reviewed p.F846L 0.992 191 0% 87 40.2% 14 42.8% possibly_damaging(0.812) deleterious(0.05) deleterious(0.651) HMMPfam_Ufd2P_core KIF1B 23095 genome.wustl.edu 37 1 10316321 10316321 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015074.3 +1 reviewed p.K41N 1.000 142 0% 109 48.6% 6 83.3% benign(0.38) deleterious(0.01) deleterious(0.527) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PEX14 5195 genome.wustl.edu 37 1 10683165 10683165 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004565.2 +1 reviewed p.S158 0.994 37 0% 37 48.6% 36 38.8% - - - NULL EXOSC10 5394 genome.wustl.edu 37 1 11158150 11158150 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001998.1 -1 validated p.E59* 1.000 68 0% 76 42.1% 28 17.8% - - - HMMPfam_PMC2NT MTOR 2475 genome.wustl.edu 37 1 11187156 11187156 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004958.3 -1 reviewed p.Y2088D 1.000 121 0% 136 41.9% 43 55.8% probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_ARM-type_fold MTOR 2475 genome.wustl.edu 37 1 11190804 11190804 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004958.3 -1 reviewed p.E1799K 1.000 262 0% 130 45.4% 29 55.1% possibly_damaging(0.722) tolerated(0.17) neutral(0.321) HMMPfam_FAT,superfamily_ARM-type_fold MTOR 2475 genome.wustl.edu 37 1 11291090 11291090 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004958.3 -1 reviewed p.L891V 0.053 175 0% 86 33.7% 8 37.5% possibly_damaging(0.87) deleterious(0) deleterious(0.782) superfamily_ARM-type_fold C1orf187 374946 genome.wustl.edu 37 1 11772411 11772411 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198545.3 +1 validated p.K258Q 0.002 46 0% 53 45.3% 4 0% benign(0.305) tolerated(0.33) neutral(0.119) NULL AGTRAP 57085 genome.wustl.edu 37 1 11807588 11807588 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020350.4 +1 reviewed p.D52Y 0.996 39 0% 42 26.2% 67 19.4% possibly_damaging(0.818) - - HMMPfam_AGTRAP,HMMSmart_SM00805 MFN2 9927 genome.wustl.edu 37 1 12064141 12064141 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127660.1 +1 reviewed p.R418Q 0.749 52 0% 73 50.7% 39 38.4% benign(0.418) tolerated(0.19) neutral(0.185) NULL TNFRSF8 943 genome.wustl.edu 37 1 12175704 12175704 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001243.3 +1 reviewed p.I288 0.782 153 0% 45 53.3% 0 - - - - superfamily_TNF receptor-like VPS13D 55187 genome.wustl.edu 37 1 12379674 12379674 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015378.2 +1 reviewed p.L2512S 1.000 390 0% 189 41.3% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS13D 55187 genome.wustl.edu 37 1 12416479 12416479 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015378.2 +1 reviewed p.D3299G 1.000 122 0% 43 27.9% 2 0% probably_damaging(0.972) deleterious(0.02) deleterious(0.797) HMMPfam_DUF1162 AADACL3 126767 genome.wustl.edu 37 1 12785381 12785381 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001103170.1 +1 validated p.R157 0.005 233 0% 52 48.1% 0 - - - - HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases C1orf158 93190 genome.wustl.edu 37 1 12820784 12820784 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152290.2 +1 validated p.Y162S 0.063 254 0% 64 56.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PRAMEF1 65121 genome.wustl.edu 37 1 12856004 12856004 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023013.1 +1 provisional p.E428 0.000 322 0% 145 27.6% 0 - - - - superfamily_SSF52047 HNRNPCL1 343069 genome.wustl.edu 37 1 12907556 12907556 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013631.1 -1 validated p.S196Y 1.000 169 0% 133 68.4% 0 - benign(0.001) tolerated(0.22) neutral(0.042) NULL PRAMEF10 343071 genome.wustl.edu 37 1 12952872 12952872 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039361.3 -1 validated p.R434W 0.000 82 0% 33 63.6% 0 - benign(0.004) deleterious(0.04) neutral(0.349) superfamily_SSF52047 LOC440563 440563 genome.wustl.edu 37 1 13183412 13183412 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136561.2 -1 validated p.R154Q 0.988 404 0.5% 333 14.7% 0 - - - - NULL LOC440563 440563 genome.wustl.edu 37 1 13183444 13183444 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136561.2 -1 validated p.S143 0.996 394 0% 279 28.3% 0 - - - - NULL LOC645359 645359 genome.wustl.edu 37 1 13219364 13219364 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_928401.3 -1 model p.L88I 0.001 211 0% 159 16.4% 0 - benign(0.116) tolerated(0.07) neutral(0.328) superfamily_RNI-like PRDM2 7799 genome.wustl.edu 37 1 14105945 14105945 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012231.4 +1 reviewed p.D552A 1.000 195 0% 77 49.4% 6 83.3% unknown(0) deleterious(0.01) - NULL PRDM2 7799 genome.wustl.edu 37 1 14107922 14107922 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012231.4 +1 reviewed p.R1211Q 1.000 65 0% 97 45.4% 22 40.9% possibly_damaging(0.923) tolerated(0.25) neutral(0.409) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DNAJC16 23341 genome.wustl.edu 37 1 15860735 15860735 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015291.2 +1 provisional p.H57 1.000 86 0% 84 34.5% 3 66.6% - - - HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain SPEN 23013 genome.wustl.edu 37 1 16256831 16256831 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015001.2 +1 reviewed p.R1366* 0.990 66 0% 63 46% 12 66.6% - - - NULL SPEN 23013 genome.wustl.edu 37 1 16257036 16257036 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015001.2 +1 reviewed p.F1434S 1.000 99 0% 96 40.6% 14 57.1% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) NULL ARHGEF19 128272 genome.wustl.edu 37 1 16525126 16525126 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153213.3 -1 provisional p.R789* 1.000 218 0% 31 41.9% 66 62.1% - - - NULL LOC100287973 100287973 genome.wustl.edu 37 1 16559457 16559457 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342034.1 +1 model p.D189N 0.143 50 0% 43 53.5% 0 - - - - NULL SPATA21 374955 genome.wustl.edu 37 1 16757803 16757803 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000375577 -1 known p.S22R 0.001 248 0.4% 67 44.8% 0 - possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL MST1P9 11223 genome.wustl.edu 37 1 17085633 17085633 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_002729.2 -1 validated NULL 0.999 47 0% 28 17.9% 2 0% benign(0.27) deleterious(0.04) neutral(0.378) - PADI2 11240 genome.wustl.edu 37 1 17395570 17395570 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007365.2 -1 reviewed p.F656S 0.998 87 0% 26 30.8% 2 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PAD,superfamily_SSF55909 PADI2 11240 genome.wustl.edu 37 1 17395616 17395616 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007365.2 -1 reviewed p.F641V 0.181 105 0% 31 48.4% 0 - benign(0.023) tolerated(0.5) neutral(0.011) HMMPfam_PAD,superfamily_SSF55909 PADI1 29943 genome.wustl.edu 37 1 17556607 17556607 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013358.2 +1 reviewed p.E319D 0.001 95 0% 54 51.9% 0 - benign(0.001) tolerated(0.63) neutral(0.004) HMMPfam_PAD,superfamily_Pentein PADI4 23569 genome.wustl.edu 37 1 17690124 17690124 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012387.2 +1 reviewed p.P622 0.832 83 0% 22 54.5% 0 - - - - HMMPfam_PAD,superfamily_Pentein KLHDC7A 127707 genome.wustl.edu 37 1 18808328 18808328 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152375.2 +1 validated p.L285I 0.903 48 0% 29 37.9% 3 66.6% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL PAX7 5081 genome.wustl.edu 37 1 19018437 19018437 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002584.2 +1 reviewed p.A259V 1.000 23 0% 19 52.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 PAX7 5081 genome.wustl.edu 37 1 19071366 19071366 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135254.1 +1 reviewed p.L487 0.019 71 0% 32 40.6% 0 - - - - NULL KIAA0090 23065 genome.wustl.edu 37 1 19561642 19561642 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015047.1 -1 predicted p.E472* 1.000 167 0% 86 43% 28 7.1% - - - superfamily_Quinoprotein alcohol dehydrogenase-like OTUD3 23252 genome.wustl.edu 37 1 20216981 20216981 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015207.1 +1 validated p.D109Y 1.000 286 0% 97 45.4% 3 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_OTU,superfamily_SSF54001 PLA2G2F 64600 genome.wustl.edu 37 1 20474813 20474813 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022819.3 +1 validated p.T185 0.511 55 0% 40 40% 0 - - - - HMMPfam_Phospholip_A2_1,superfamily_PhospholipaseA2 VWA5B1 127731 genome.wustl.edu 37 1 20649862 20649862 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039500.2 +1 validated p.R327Q 1.000 223 0% 62 50% 0 - probably_damaging(0.983) tolerated(0.59) neutral(0.433) NULL KIF17 57576 genome.wustl.edu 37 1 21009301 21009301 + Missense_Mutation SNP G G A rs186978787 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020816.2 -1 validated p.R770C 1.000 149 0% 37 43.2% 0 - possibly_damaging(0.823) deleterious(0) deleterious(0.756) NULL EIF4G3 8672 genome.wustl.edu 37 1 21137325 21137325 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003760.3 -1 validated p.P1494 1.000 81 0% 130 50% 34 20.5% - - - HMMSmart_SM00515,superfamily_ARM repeat EIF4G3 8672 genome.wustl.edu 37 1 21212819 21212819 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003760.3 -1 validated p.E711* 1.000 812 0% 188 47.3% 15 20% - - - NULL USP48 84196 genome.wustl.edu 37 1 22074707 22074708 + Frame_Shift_Del DEL TC TC - novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032236.5 -1 reviewed p.N278fs 1.000:1.000 - - - - - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases HSPG2 3339 genome.wustl.edu 37 1 22188281 22188281 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000374695 -1 known p.E1642K 0.999 48 0% 100 48% 20 40% possibly_damaging(0.676) tolerated(0.37) neutral(0.260) HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin EPHA8 2046 genome.wustl.edu 37 1 22903272 22903272 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020526.3 +1 reviewed p.D241G 1.000 23 0% 19 52.6% 0 - probably_damaging(0.999) tolerated(0.27) deleterious(0.524) NULL C1QC 714 genome.wustl.edu 37 1 22974153 22974153 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114101.1 +1 reviewed p.G205 0.931 243 0% 33 39.4% 137 0% - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like EPHB2 2048 genome.wustl.edu 37 1 23239962 23239962 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004442.6 +1 reviewed p.L955I 1.000 142 0% 88 42% 18 22.2% probably_damaging(0.995) tolerated(0.19) deleterious(0.507) HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology LYPLA2 11313 genome.wustl.edu 37 1 24120404 24120404 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007260.2 +1 reviewed p.K93N 1.000 198 0% 87 48.3% 91 39.5% probably_damaging(0.994) tolerated(0.17) deleterious(0.511) HMMPfam_Abhydrolase_2,superfamily_SSF53474 MYOM3 127294 genome.wustl.edu 37 1 24408492 24408492 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152372.3 -1 validated p.K760T 1.000 22 0% 13 61.5% 0 - benign(0.016) tolerated(0.53) neutral(0.008) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III IL28RA 163702 genome.wustl.edu 37 1 24495963 24495963 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170743.2 -1 reviewed p.S104Y 0.002 78 0% 31 48.4% 12 66.6% probably_damaging(0.997) tolerated(0.25) deleterious(0.503) superfamily_Fibronectin type III GRHL3 57822 genome.wustl.edu 37 1 24661146 24661146 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021180.2 +1 reviewed p.E77D 1.000 169 0% 116 47.4% 0 - probably_damaging(0.99) tolerated(0.4) neutral(0.458) NULL GRHL3 57822 genome.wustl.edu 37 1 24673129 24673129 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021180.2 +1 reviewed p.R519I 1.000 24 0% 40 45% 2 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL C1orf201 90529 genome.wustl.edu 37 1 24685054 24685054 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000437986 -1 known p.E254* 0.255 165 0% 125 50.4% 10 60% - - - NULL C1orf201 90529 genome.wustl.edu 37 1 24696262 24696262 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178122.3 -1 predicted p.S166 0.808 160 0% 158 34.8% 3 66.6% - - - NULL RHD 6007 genome.wustl.edu 37 1 25655432 25655432 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000342055 +1 known p.E429D 0.006 595 0% 460 60.2% 0 - benign(0.105) deleterious(0.03) neutral(0.372) NULL SEPN1 57190 genome.wustl.edu 37 1 26142120 26142120 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000354177 +1 known p.S528A 1.000 72 0% 55 36.4% 105 52.3% probably_damaging(0.987) tolerated(0.08) deleterious(0.736) NULL FAM54B 56181 genome.wustl.edu 37 1 26156166 26156166 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099627.1 +1 validated p.F170C 1.000 252 0% 193 45.1% 82 31.7% probably_damaging(0.978) tolerated(0.06) deleterious(0.743) HMMPfam_DUF729 PAFAH2 5051 genome.wustl.edu 37 1 26314780 26314781 + Frame_Shift_Ins INS - - A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000437.3 -1 reviewed p.K94fs 1.000:1.000 - - - - - - - - - HMMPfam_PAF-AH_p_II,superfamily_alpha/beta-Hydrolases EXTL1 2134 genome.wustl.edu 37 1 26361433 26361433 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004455.2 +1 reviewed p.V596I 0.998 86 0% 88 45.5% 0 - possibly_damaging(0.929) tolerated(0.07) deleterious(0.695) HMMPfam_Glyco_transf_64,superfamily_SSF53448 PDIK1L 149420 genome.wustl.edu 37 1 26441068 26441068 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152835.3 +1 validated p.S90Y 1.000 80 0% 174 46.6% 2 0% possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CEP85 64793 genome.wustl.edu 37 1 26595031 26595031 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022778.2 +1 provisional p.E467K 0.998 78 0% 35 54.3% 17 64.7% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL AIM1L 55057 genome.wustl.edu 37 1 26658088 26658088 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000308182 -1 known p.R467Q 0.186 48 0% 48 52.1% 3 100% - - - HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like ARID1A 8289 genome.wustl.edu 37 1 27093048 27093049 + Frame_Shift_Ins INS - - A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006015.4 +1 reviewed p.S994fs 1.000:1.000 - - - - - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27100163 27100163 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006015.4 +1 reviewed p.S1320Y 1.000 177 0.6% 85 43.5% 20 65% possibly_damaging(0.922) tolerated(0.36) neutral(0.392) NULL ARID1A 8289 genome.wustl.edu 37 1 27106792 27106792 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006015.4 +1 reviewed p.I2135V 1.000 148 0% 52 46.2% 55 74.5% possibly_damaging(0.93) tolerated(0.38) neutral(0.394) NULL SLC9A1 6548 genome.wustl.edu 37 1 27480517 27480517 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003047.3 -1 validated p.F103 0.954 40 0% 19 57.9% 20 30% - - - NULL SYTL1 84958 genome.wustl.edu 37 1 27676743 27676743 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000485269 +1 known p.R11* 0.001 10 0% 20 35% 0 - - - - NULL WASF2 10163 genome.wustl.edu 37 1 27745585 27745585 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006990.2 -1 reviewed p.K45N 1.000 127 0% 65 38.5% 17 52.9% unknown(0) deleterious(0) - NULL TRNAU1AP 54952 genome.wustl.edu 37 1 28897727 28897727 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017846.4 +1 validated p.S190R 1.000 172 0% 190 45.3% 50 50% probably_damaging(0.984) tolerated(0.2) deleterious(0.479) superfamily_RNA-binding domain RBD EPB41 2035 genome.wustl.edu 37 1 29344857 29344857 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203343.2 +1 reviewed p.E308* 1.000 133 0% 100 51% 6 0% - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 SDC3 9672 genome.wustl.edu 37 1 31346193 31346193 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014654.3 -1 reviewed p.L398 0.998 113 0% 52 44.2% 50 42% - - - HMMPfam_Syndecan PUM1 9698 genome.wustl.edu 37 1 31418210 31418210 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001020658.1 -1 reviewed p.D993N 1.000 135 0% 79 46.8% 60 46.6% benign(0.151) tolerated(0.12) neutral(0.274) HMMSmart_SM00025,superfamily_ARM repeat PUM1 9698 genome.wustl.edu 37 1 31426818 31426818 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001020658.1 -1 reviewed p.T778 0.856 81 0% 26 50% 37 51.3% - - - NULL SNRNP40 9410 genome.wustl.edu 37 1 31754246 31754246 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004814.2 -1 reviewed p.S210Y 1.000 378 0.5% 161 43.5% 75 46.6% probably_damaging(0.998) tolerated(0.18) deleterious(0.530) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 PEF1 553115 genome.wustl.edu 37 1 32096373 32096373 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012392.3 -1 reviewed p.R232 0.999 128 0% 41 41.5% 98 39.7% - - - superfamily_SSF47473 PEF1 553115 genome.wustl.edu 37 1 32101056 32101056 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012392.3 -1 reviewed p.N31T 0.614 12 0.000 8 0.625 28 60.7% unknown(0) deleterious(0.02) - NULL COL16A1 1307 genome.wustl.edu 37 1 32127273 32127273 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001856.3 -1 reviewed p.L1238 1.000 62 0% 42 14.3% 31 6.4% - - - HMMPfam_Collagen COL16A1 1307 genome.wustl.edu 37 1 32148578 32148578 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001856.3 -1 reviewed p.T832I 0.001 47 0% 41 34.1% 10 10% possibly_damaging(0.922) tolerated(0.24) neutral(0.409) HMMPfam_Collagen COL16A1 1307 genome.wustl.edu 37 1 32150144 32150144 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001856.3 -1 reviewed p.A714T 0.000 21 0% 11 45.5% 11 9% unknown(0) tolerated(0.23) - HMMPfam_Collagen TMEM39B 55116 genome.wustl.edu 37 1 32568173 32568173 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018056.2 +1 validated p.Y460D 1.000 209 0% 78 53.8% 32 53.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Tmp39 HDAC1 3065 genome.wustl.edu 37 1 32797379 32797379 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004964.2 +1 reviewed p.D397 0.424 52 0% 44 45.5% 202 49% - - - NULL MARCKSL1 65108 genome.wustl.edu 37 1 32800510 32800510 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023009.5 -1 validated p.F92L 1.000 14 0% 26 50% 715 44.1% possibly_damaging(0.792) deleterious(0) deleterious(0.742) PatternScan_MARCKS_2 ZBTB8A 653121 genome.wustl.edu 37 1 33058578 33058578 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040441.1 +1 validated p.E16K 1.000 164 0% 84 51.2% 8 37.5% possibly_damaging(0.929) deleterious(0.01) deleterious(0.782) superfamily_POZ domain,HMMPfam_BTB SYNC 81493 genome.wustl.edu 37 1 33161087 33161087 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030786.2 -1 reviewed p.R204 0.983 120 0% 40 42.5% 1 0% - - - NULL FNDC5 252995 genome.wustl.edu 37 1 33330351 33330351 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153756.2 -1 validated p.E108* 1.000 241 0% 246 44.3% 0 - - - - NULL AK2 204 genome.wustl.edu 37 1 33487015 33487015 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001625.2 -1 reviewed p.I126 0.995 110 0% 55 63.6% 172 43.6% - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases ADC 113451 genome.wustl.edu 37 1 33585676 33585676 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052998.2 +1 validated p.E426* 0.983 249 0% 26 30.8% 4 25% - - - NULL PHC2 1912 genome.wustl.edu 37 1 33790580 33790580 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198040.2 -1 reviewed p.I821 0.754 59 0% 27 66.7% 140 33.5% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain ZSCAN20 7579 genome.wustl.edu 37 1 33959168 33959168 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145238.3 +1 validated p.E609A 0.098 48 0% 22 50% 2 100% benign(0.002) tolerated(0.14) neutral(0.249) NULL CSMD2 114784 genome.wustl.edu 37 1 34015852 34015852 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052896.3 -1 validated p.R2804C 1.000 57 0% 15 33.3% 1 100% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34080145 34080145 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052896.3 -1 validated p.N1991S 1.000 145 0% 46 45.7% 2 100% benign(0.093) tolerated(0.25) neutral(0.044) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD2 114784 genome.wustl.edu 37 1 34204881 34204881 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052896.3 -1 validated p.F703S 1.000 83 0% 16 62.5% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34312529 34312529 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052896.3 -1 validated p.S290L 0.982 142 0.7% 17 41.2% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain C1orf94 84970 genome.wustl.edu 37 1 34662856 34662856 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134734.1 +1 validated p.E117 1.000 114 0% 37 18.9% 0 - - - - NULL GJB4 127534 genome.wustl.edu 37 1 35226963 35226963 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153212.2 +1 reviewed p.Y36 0.937 428 0% 86 45.3% 0 - - - - HMMPfam_Connexin C1orf212 113444 genome.wustl.edu 37 1 35320729 35320729 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138428.5 -1 validated p.E185* 0.975 90 0% 66 42.4% 33 24.2% - - - NULL ZMYM6 9204 genome.wustl.edu 37 1 35452992 35452992 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007167.3 -1 validated p.E1231K 0.950 41 0% 176 47.7% 7 14.2% probably_damaging(0.971) tolerated(0.08) deleterious(0.713) NULL ZMYM6 9204 genome.wustl.edu 37 1 35453698 35453698 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007167.3 -1 validated p.A995 1.000 14 0% 38 31.6% 9 55.5% - - - NULL ZMYM6 9204 genome.wustl.edu 37 1 35453862 35453862 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007167.3 -1 validated p.E941* 1.000 10 0% 29 44.8% 10 20% - - - NULL ZMYM6 9204 genome.wustl.edu 37 1 35480424 35480424 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007167.3 -1 validated p.K223N 1.000 132 0% 128 42.2% 9 11.1% probably_damaging(0.98) deleterious(0.02) deleterious(0.807) HMMPfam_zf-FCS,HMMSmart_SM00746 ZMYM6 9204 genome.wustl.edu 37 1 35480657 35480657 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007167.3 -1 validated p.K179Q 1.000 149 0% 159 48.4% 4 50% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL ZMYM1 79830 genome.wustl.edu 37 1 35579468 35579468 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024772.3 +1 validated p.F679L 0.229 53 0% 89 41.6% 2 100% probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL ZMYM1 79830 genome.wustl.edu 37 1 35580111 35580111 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024772.3 +1 validated p.E894* 1.000 30 0% 68 50% 3 33.3% - - - NULL ZMYM4 9202 genome.wustl.edu 37 1 35857939 35857939 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005095.2 +1 validated p.N905T 1.000 154 0% 46 41.3% 40 57.5% benign(0.001) tolerated(0.31) neutral(0.027) NULL CLSPN 63967 genome.wustl.edu 37 1 36226115 36226115 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022111.2 -1 reviewed p.E469D 0.000 274 0% 205 43.4% 9 55.5% benign(0) tolerated(0.43) neutral(0.013) NULL EIF2C1 26523 genome.wustl.edu 37 1 36383221 36383221 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012199.2 +1 reviewed p.R686C 1.000 207 0% 163 48.5% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Piwi,superfamily_Ribonuclease H-like EIF2C3 192669 genome.wustl.edu 37 1 36492725 36492725 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024852.2 +1 reviewed p.D473N 1.000 59 0% 49 22.4% 5 40% benign(0) tolerated(0.58) neutral(0.005) NULL THRAP3 9967 genome.wustl.edu 37 1 36752028 36752028 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005119.3 +1 validated p.R66I 1.000 109 0% 97 49.5% 48 37.5% unknown(0) deleterious(0) - NULL STK40 83931 genome.wustl.edu 37 1 36826860 36826860 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032017.1 -1 provisional p.S25Y 1.000 128 0% 126 42.9% 17 35.2% probably_damaging(0.964) deleterious(0) deleterious(0.851) superfamily_Protein kinase-like (PK-like) CSF3R 1441 genome.wustl.edu 37 1 36933760 36933760 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_156039.2 -1 reviewed p.W547R 1.000 88 0% 36 44.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CSF3R 1441 genome.wustl.edu 37 1 36941116 36941116 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_156039.2 -1 reviewed p.Q75* 0.896 99 0% 27 59.3% 0 - - - - superfamily_FN_III-like,HMMPfam_Lep_receptor_Ig GRIK3 2899 genome.wustl.edu 37 1 37270653 37270653 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000831.3 -1 reviewed p.L834F 1.000 61 0% 18 44.4% 0 - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_Lig_chan,superfamily_SSF55620 GNL2 29889 genome.wustl.edu 37 1 38034657 38034657 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013285.2 -1 validated p.L555I 0.000 231 0% 160 44.4% 115 46.9% benign(0.001) tolerated(0.32) neutral(0.024) NULL C1orf109 54955 genome.wustl.edu 37 1 38155527 38155527 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017850.1 -1 predicted p.A9V 0.065 15 0% 15 60% 23 78.2% benign(0) tolerated(0.38) neutral(0.018) NULL MTF1 4520 genome.wustl.edu 37 1 38283132 38283132 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005955.2 -1 reviewed p.K597T 1.000 49 0% 133 45.1% 4 100% benign(0.43) deleterious(0) deleterious(0.585) NULL GJA9 81025 genome.wustl.edu 37 1 39340608 39340608 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030772.3 -1 provisional p.R388H 0.000 195 0% 376 48.9% 0 - possibly_damaging(0.782) deleterious(0) deleterious(0.738) NULL GJA9 81025 genome.wustl.edu 37 1 39340657 39340657 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030772.3 -1 provisional p.E372* 0.347 206 0% 426 43.2% 0 - - - - NULL GJA9 81025 genome.wustl.edu 37 1 39341445 39341445 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030772.3 -1 provisional p.R109M 0.997 194 0% 190 42.6% 0 - benign(0.048) deleterious(0.01) neutral(0.409) HMMPfam_Connexin MACF1 23499 genome.wustl.edu 37 1 39798420 39798420 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033044.2 +1 reviewed p.R494W 0.001 71 0% 40 45% 0 - probably_damaging(0.968) - - NULL MACF1 23499 genome.wustl.edu 37 1 39798705 39798705 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033044.2 +1 reviewed p.D589Y 0.000 62 0% 32 46.9% 0 - benign(0.293) - - NULL MACF1 23499 genome.wustl.edu 37 1 39818720 39818720 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000372925 +1 known p.R819* 0.837 137 0% 46 43.5% 8 50% - - - NULL KIAA0754 643314 genome.wustl.edu 37 1 39876571 39876571 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015038.1 +1 predicted p.L212V 0.043 30 0% 51 41.2% 4 50% unknown(0) deleterious(0) - NULL KIAA0754 643314 genome.wustl.edu 37 1 39877519 39877519 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015038.1 +1 predicted p.A528T 0.000 124 0% 181 49.2% 2 0% unknown(0) tolerated(0.18) - NULL MACF1 23499 genome.wustl.edu 37 1 39906724 39906724 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033044.2 +1 reviewed p.R4609L 1.000 234 0% 157 44.6% 31 29% possibly_damaging(0.815) tolerated(0.12) deleterious(0.568) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin NT5C1A 84618 genome.wustl.edu 37 1 40131263 40131263 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032526.1 -1 provisional p.F121 0.456 17 0% 73 46.6% 0 - - - - HMMPfam_5-nucleotidase PPIE 10450 genome.wustl.edu 37 1 40208918 40208918 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006112.2 +1 reviewed p.R78C 1.000 455 0% 299 41.1% 45 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD MYCL1 4610 genome.wustl.edu 37 1 40363391 40363391 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033081.2 -1 validated p.E250K 0.684 116 0% 157 42% 6 50% benign(0.056) tolerated(0.52) neutral(0.012) HMMPfam_Myc_N RLF 6018 genome.wustl.edu 37 1 40706115 40706115 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012421.3 +1 validated p.S1914* 1.000 36 0% 27 37% 51 41.1% - - - NULL SMAP2 64744 genome.wustl.edu 37 1 40875448 40875448 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022733.1 +1 provisional p.R115* 1.000 364 0% 137 40.9% 11 0% - - - HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain ZNF643 65243 genome.wustl.edu 37 1 40928354 40928354 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023070.2 +1 validated p.N131T 0.000 83 0% 89 52.8% 1 100% benign(0.138) tolerated(0.5) neutral(0.021) NULL ZNF643 65243 genome.wustl.edu 37 1 40929056 40929056 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023070.2 +1 validated p.R365K 0.997 241 0% 149 45.6% 7 57.1% benign(0.007) tolerated(0.16) neutral(0.059) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF642 339559 genome.wustl.edu 37 1 40961190 40961190 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198494.2 +1 validated p.R347I 1.000 92 0% 112 46.4% 5 40% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF642 339559 genome.wustl.edu 37 1 40961561 40961561 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198494.2 +1 validated p.R471C 0.131 102 1% 117 35% 11 18.1% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KCNQ4 9132 genome.wustl.edu 37 1 41283841 41283841 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000509682 +1 known p.R57C 1.000 48 2.1% 27 40.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KCNQ4 9132 genome.wustl.edu 37 1 41304040 41304040 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004700.2 +1 reviewed p.R645C 1.000 63 0% 20 45% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_KCNQ_channel HIVEP3 59269 genome.wustl.edu 37 1 42048037 42048037 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024503.3 -1 validated p.S811Y 0.927 86 0% 47 57.4% 1 0% possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) NULL RIMKLA 284716 genome.wustl.edu 37 1 42880638 42880638 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173642.3 +1 validated p.L390R 1.000 39 0% 21 52.4% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZMYND12 84217 genome.wustl.edu 37 1 42914270 42914270 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032257.4 -1 validated p.Y98D 0.996 152 0% 52 36.5% 0 - possibly_damaging(0.861) tolerated(0.2) neutral(0.382) superfamily_TPR-like CCDC30 728621 genome.wustl.edu 37 1 43108177 43108177 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080850.2 +1 validated p.N558Y 0.996 86 0% 20 45% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ERMAP 114625 genome.wustl.edu 37 1 43308299 43308299 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017922.1 +1 reviewed p.R275I 1.000 353 0% 104 44.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PRY ERMAP 114625 genome.wustl.edu 37 1 43308732 43308732 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017922.1 +1 reviewed p.E419D 0.111 334 0% 145 39.3% 4 50% probably_damaging(0.987) deleterious(0.03) deleterious(0.801) NULL ZNF691 51058 genome.wustl.edu 37 1 43316921 43316921 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015911.2 +1 provisional p.N98D 1.000 132 0% 32 53.1% 7 0% possibly_damaging(0.68) tolerated(0.16) neutral(0.302) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WDR65 149465 genome.wustl.edu 37 1 43647376 43647376 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152498.3 +1 validated p.F110C 0.996 158 0% 100 61% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_WD40_like TMEM125 128218 genome.wustl.edu 37 1 43738659 43738659 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144626.2 +1 validated p.S89L 1.000 60 0% 16 62.5% 9 66.6% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL TIE1 7075 genome.wustl.edu 37 1 43783285 43783285 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005424.2 +1 provisional p.L891M 1.000 82 0% 103 52.4% 2 0% possibly_damaging(0.873) tolerated(0.36) neutral(0.359) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like MPL 4352 genome.wustl.edu 37 1 43818313 43818313 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005373.2 +1 reviewed p.R593I 0.664 117 0% 86 40.7% 0 - benign(0.011) tolerated(0.1) neutral(0.287) NULL SZT2 23334 genome.wustl.edu 37 1 43905575 43905575 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015284.2 +1 predicted p.R1457* 1.000 132 0% 83 39.8% 4 50% - - - NULL ATP6V0B 533 genome.wustl.edu 37 1 44442840 44442840 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004047.3 +1 reviewed p.I181 1.000 50 0% 38 28.9% 358 44.4% - - - HMMPfam_ATP-synt_C,superfamily_F1F0 ATP synthase subunit C KLF17 128209 genome.wustl.edu 37 1 44584589 44584589 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173484.3 +1 validated p.R4* 0.000 24 0% 13 46.2% 0 - - - - NULL KIF2C 11004 genome.wustl.edu 37 1 45226082 45226082 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006845.3 +1 validated p.A500T 0.997 60 0% 60 53.3% 57 50.8% benign(0.353) tolerated(0.06) neutral(0.434) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases BTBD19 149478 genome.wustl.edu 37 1 45276069 45276069 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136537.1 +1 provisional p.T91A 1.000 51 0% 86 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB TESK2 10420 genome.wustl.edu 37 1 45923312 45923312 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007170.2 -1 reviewed p.A49D 1.000 303 0% 57 50.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) PIK3R3 8503 genome.wustl.edu 37 1 46521644 46521644 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114172.1 -1 validated e7-1 1.000 133 0% 153 52.9% 0 - - - - - RAD54L 8438 genome.wustl.edu 37 1 46726623 46726623 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142548.1 +1 reviewed p.L234 0.990 141 0% 63 47.6% 13 53.8% - - - HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 RAD54L 8438 genome.wustl.edu 37 1 46743910 46743910 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142548.1 +1 reviewed p.V734I 1.000 51 0% 44 36.4% 23 43.4% benign(0.015) tolerated(0.1) neutral(0.287) NULL MOB3C 148932 genome.wustl.edu 37 1 47080746 47080746 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145279.4 -1 reviewed p.M1I 0.014 50 0% 76 44.7% 0 - benign(0) - - NULL CYP4B1 1580 genome.wustl.edu 37 1 47278182 47278182 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099772.1 +1 reviewed p.V128I 0.978 138 0% 20 35% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP4Z1 199974 genome.wustl.edu 37 1 47533219 47533219 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178134.2 +1 reviewed p.L19 0.000 413 0% 57 42.1% 0 - - - - NULL CYP4A22 284541 genome.wustl.edu 37 1 47610110 47610110 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010969.2 +1 reviewed p.F291C 1.000 378 0% 157 36.9% 0 - benign(0.001) tolerated(1) - HMMPfam_p450,superfamily_Cytochrome P450 STIL 6491 genome.wustl.edu 37 1 47746274 47746274 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001048166.1 -1 reviewed p.S619Y 0.992 178 0% 121 45.5% 5 80% possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) NULL SLC5A9 200010 genome.wustl.edu 37 1 48703352 48703352 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135181.1 +1 validated p.V457L 1.000 828 0.1% 80 50% 0 - benign(0.001) tolerated(0.94) - HMMPfam_SSF AGBL4 84871 genome.wustl.edu 37 1 49100248 49100248 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032785.3 -1 validated p.R290C 1.000 256 0% 46 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases ELAVL4 1996 genome.wustl.edu 37 1 50661349 50661349 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144775.1 +1 validated p.F226V 1.000 155 0% 27 48.1% 1 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_SSF54928 FAF1 11124 genome.wustl.edu 37 1 51061888 51061888 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007051.2 -1 reviewed p.M249V 1.000 122 0% 69 34.8% 53 47.1% benign(0.005) tolerated(0.64) neutral(0.003) superfamily_Ubiquitin-like C1orf185 284546 genome.wustl.edu 37 1 51613225 51613225 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136508.1 +1 predicted p.R128C 0.000 216 0% 81 50.6% 0 - possibly_damaging(0.633) tolerated(0.1) deleterious(0.507) NULL TTC39A 22996 genome.wustl.edu 37 1 51761752 51761752 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144832.1 -1 validated p.R386* 0.838 97 0% 38 39.5% 30 6.6% - - - HMMPfam_Deme6,superfamily_SSF48452 EPS15 2060 genome.wustl.edu 37 1 51827000 51827000 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001981.2 -1 reviewed p.S796Y 1.000 114 0% 164 37.8% 31 25.8% unknown(0) deleterious(0.01) - NULL EPS15 2060 genome.wustl.edu 37 1 51829615 51829615 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001981.2 -1 reviewed p.S761L 0.036 241 0% 153 38.6% 38 52.6% unknown(0) deleterious(0.01) - NULL OSBPL9 114883 genome.wustl.edu 37 1 52249953 52249953 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148909.1 +1 reviewed p.D558Y 1.000 666 0.2% 84 42.9% 55 45.4% possibly_damaging(0.861) deleterious(0) deleterious(0.778) HMMPfam_Oxysterol_BP NRD1 4898 genome.wustl.edu 37 1 52303275 52303275 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002525.2 -1 validated p.F216L 1.000 91 1.1% 75 44% 11 63.6% possibly_damaging(0.767) deleterious(0) deleterious(0.729) superfamily_Metalloenz_metal-bd TXNDC12 51060 genome.wustl.edu 37 1 52493007 52493007 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015913.2 -1 provisional p.K75N 1.000 131 0% 165 40% 93 44% probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_Thioredoxin-like,PatternScan_THIOREDOXIN_1 ZFYVE9 9372 genome.wustl.edu 37 1 52769556 52769556 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004799.2 +1 reviewed p.R1133W 1.000 149 0% 192 49% 21 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZFYVE9 9372 genome.wustl.edu 37 1 52811874 52811874 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004799.2 +1 reviewed p.I1420S 1.000 147 0% 61 44.3% 28 32.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ORC1 4998 genome.wustl.edu 37 1 52859196 52859196 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004153.2 -1 reviewed p.R334I 0.000 557 0% 272 44.5% 17 35.2% benign(0.08) deleterious(0.02) neutral(0.389) NULL ZCCHC11 23318 genome.wustl.edu 37 1 52902605 52902605 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009881.1 -1 validated p.K1328N 0.993 551 0% 305 41.6% 36 66.6% benign(0.256) tolerated(0.11) neutral(0.298) superfamily_Retrovirus zinc finger-like domains ZCCHC11 23318 genome.wustl.edu 37 1 52991321 52991321 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009881.1 -1 validated p.R211Q 0.000 178 0% 184 33.2% 14 35.7% benign(0.011) tolerated(0.39) neutral(0.017) NULL ZCCHC11 23318 genome.wustl.edu 37 1 52991748 52991748 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009881.1 -1 validated p.E69* 1.000 115 0% 202 44.6% 4 50% - - - NULL ZYG11A 440590 genome.wustl.edu 37 1 53333302 53333302 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000371528 +1 known p.A495S 1.000 155 0% 286 40.6% 0 - possibly_damaging(0.697) deleterious(0.02) deleterious(0.633) superfamily_ARM repeat SLC1A7 6512 genome.wustl.edu 37 1 53554581 53554581 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006671.4 -1 validated p.R478W 1.000 101 0% 27 40.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC1A7 6512 genome.wustl.edu 37 1 53580546 53580546 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006671.4 -1 validated p.I105 0.478 61 0% 24 33.3% 0 - - - - HMMPfam_SDF CPT2 1376 genome.wustl.edu 37 1 53679203 53679203 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000098.2 +1 reviewed p.Q638R 0.537 154 0% 91 38.5% 31 48.3% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases DIO1 1733 genome.wustl.edu 37 1 54360124 54360124 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039715.1 +1 reviewed p.R81* 1.000 241 0% 49 55.1% 0 - - - - HMMPfam_T4_deiodinase LDLRAD1 388633 genome.wustl.edu 37 1 54476055 54476055 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010978.2 -1 provisional p.F123L 1.000 55 0% 45 55.6% 0 - possibly_damaging(0.882) tolerated(0.1) deleterious(0.631) HMMSmart_SM00192 TMEM59 9528 genome.wustl.edu 37 1 54497946 54497946 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004872.3 -1 provisional p.M283I 1.000 142 0% 99 46.5% 301 37.5% benign(0.002) tolerated(0.17) neutral(0.059) NULL TMEM59 9528 genome.wustl.edu 37 1 54506445 54506445 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004872.3 -1 provisional p.L231V 1.000 86 0% 94 52.1% 293 46.4% benign(0.114) deleterious(0.01) neutral(0.415) NULL TCEANC2 127428 genome.wustl.edu 37 1 54520123 54520123 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153035.1 +1 predicted p.R10G 0.544 144 0% 85 40% 6 50% possibly_damaging(0.906) tolerated(0.08) deleterious(0.659) NULL MRPL37 51253 genome.wustl.edu 37 1 54675706 54675706 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016491.3 +1 reviewed p.I245S 0.997 291 0% 170 41.8% 195 52.3% benign(0.128) deleterious(0.02) neutral(0.394) NULL SSBP3 23648 genome.wustl.edu 37 1 54694025 54694025 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145716.2 -1 validated p.S347Y 1.000 79 0% 137 40.9% 78 38.4% possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL C8A 731 genome.wustl.edu 37 1 57372442 57372442 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000562.2 +1 reviewed p.K400T 0.000 191 0% 123 45.5% 0 - benign(0.005) tolerated(0.51) neutral(0.009) HMMPfam_MACPF,HMMSmart_MACPF MYSM1 114803 genome.wustl.edu 37 1 59125684 59125684 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001085487.1 -1 provisional p.K824N 0.000 221 0% 65 35.4% 4 50% possibly_damaging(0.545) deleterious(0) deleterious(0.629) NULL FGGY 55277 genome.wustl.edu 37 1 59812049 59812049 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113411.1 +1 validated p.P148 0.249 293 0% 26 30.8% 3 66.6% - - - HMMPfam_FGGY_N,superfamily_SSF53067 TM2D1 83941 genome.wustl.edu 37 1 62166662 62166662 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032027.2 -1 reviewed p.S128Y 1.000 74 0% 94 39.4% 48 54.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TM2 INADL 10207 genome.wustl.edu 37 1 62545130 62545130 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176877.2 +1 reviewed p.S1378 0.969 141 0% 104 51% 25 52% - - - NULL INADL 10207 genome.wustl.edu 37 1 62579844 62579844 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176877.2 +1 reviewed p.E1527D 0.997 102 0% 73 34.2% 29 34.4% benign(0.001) tolerated(0.31) neutral(0.027) superfamily_PDZ domain-like L1TD1 54596 genome.wustl.edu 37 1 62672774 62672774 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019079.4 +1 validated p.K158N 0.003 28 0% 64 53.1% 0 - unknown(0) deleterious(0) - NULL DOCK7 85440 genome.wustl.edu 37 1 62941524 62941524 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033407.2 -1 validated p.R1908C 1.000 271 0% 113 35.4% 36 72.2% possibly_damaging(0.487) deleterious(0) deleterious(0.607) HMMPfam_Ded_cyto DOCK7 85440 genome.wustl.edu 37 1 62960061 62960061 + Missense_Mutation SNP C C T rs191312236 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033407.2 -1 validated p.R1670Q 1.000 147 0% 26 57.7% 25 48% probably_damaging(0.993) tolerated(0.06) deleterious(0.772) NULL DOCK7 85440 genome.wustl.edu 37 1 62962077 62962077 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033407.2 -1 validated p.S1588Y 1.000 243 0% 75 45.3% 19 63.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK7 85440 genome.wustl.edu 37 1 63021544 63021544 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000454575 -1 known p.S21* 1.000 446 0% 169 42% 8 37.5% benign(0.233) tolerated(0.06) neutral(0.346) NULL ATG4C 84938 genome.wustl.edu 37 1 63307175 63307175 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032852.2 +1 reviewed p.R389Q 1.000 33 0% 26 42.3% 8 25% possibly_damaging(0.474) tolerated(0.59) neutral(0.161) HMMPfam_Peptidase_C54 ATG4C 84938 genome.wustl.edu 37 1 63329785 63329785 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032852.2 +1 reviewed p.K444N 1.000 78 0% 66 53% 3 0% benign(0) tolerated(0.28) neutral(0.032) NULL ITGB3BP 23421 genome.wustl.edu 37 1 63920057 63920057 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014288.3 -1 provisional p.E141* 0.996 182 0% 87 44.8% 22 13.6% - - - HMMPfam_NRIF3 JAK1 3716 genome.wustl.edu 37 1 65300295 65300295 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002227.2 -1 reviewed p.R1139W 0.477 268 0% 163 43.6% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like JAK1 3716 genome.wustl.edu 37 1 65304242 65304242 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002227.2 -1 reviewed p.F958C 1.000 311 0% 297 13.1% 9 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like JAK1 3716 genome.wustl.edu 37 1 65332729 65332729 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002227.2 -1 reviewed p.Y270* 1.000 407 0% 187 46% 8 0% - - - HMMSmart_B41 DNAJC6 9829 genome.wustl.edu 37 1 65831757 65831757 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014787.2 +1 validated p.D84Y 1.000 695 0.1% 110 48.2% 0 - possibly_damaging(0.929) deleterious(0) deleterious(0.821) superfamily_(Phosphotyrosine protein) phosphatases II DNAJC6 9829 genome.wustl.edu 37 1 65845149 65845149 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014787.2 +1 validated p.R146Q 1.000 225 0% 70 42.9% 0 - possibly_damaging(0.857) tolerated(0.12) deleterious(0.592) superfamily_(Phosphotyrosine protein) phosphatases II LEPR 3953 genome.wustl.edu 37 1 66074460 66074460 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002303.4 +1 reviewed p.V543A 0.901 59 0% 50 50% 2 100% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_SM00060,superfamily_Fibronectin type III PDE4B 5142 genome.wustl.edu 37 1 66723166 66723166 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000371048 +1 known p.G25V 0.000 30 0% 42 35.7% 0 - - - - NULL PDE4B 5142 genome.wustl.edu 37 1 66828878 66828878 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037341.1 +1 reviewed p.L350I 0.970 146 0% 44 56.8% 2 0% benign(0.027) tolerated(0.4) neutral(0.018) superfamily_HD-domain/PDEase-like WDR78 79819 genome.wustl.edu 37 1 67313332 67313332 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024763.4 -1 validated p.E376* 1.000 220 0% 85 45.9% 0 - - - - NULL WDR78 79819 genome.wustl.edu 37 1 67356907 67356907 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024763.4 -1 validated p.S191 0.682 274 0% 140 37.9% 1 100% - - - NULL MIER1 57708 genome.wustl.edu 37 1 67428776 67428776 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020948.3 +1 validated p.I206M 1.000 198 0% 167 44.9% 16 6.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELM2 IL23R 149233 genome.wustl.edu 37 1 67702441 67702441 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144701.2 +1 reviewed p.S334Y 0.002 178 0% 127 45.7% 0 - probably_damaging(0.976) deleterious(0.03) deleterious(0.782) NULL WLS 79971 genome.wustl.edu 37 1 68614259 68614259 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002292.2 -1 validated p.D351Y 1.000 136 0% 38 21.1% 387 18.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1171 WLS 79971 genome.wustl.edu 37 1 68614334 68614334 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002292.2 -1 validated p.E326K 1.000 139 0% 43 55.8% 376 54.5% possibly_damaging(0.719) tolerated(0.2) neutral(0.309) HMMPfam_DUF1171 WLS 79971 genome.wustl.edu 37 1 68659873 68659873 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002292.2 -1 validated p.V46 0.987 278 0% 71 35.2% 216 44.4% - - - NULL DEPDC1 55635 genome.wustl.edu 37 1 68944639 68944639 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000370964 -1 known p.S767Y 0.006 31 0% 18 55.6% 0 - - - - NULL DEPDC1 55635 genome.wustl.edu 37 1 68944921 68944921 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114120.1 -1 validated p.S673Y 1.000 245 0.4% 31 22.6% 13 46.1% probably_damaging(0.975) tolerated(1) neutral(0.417) superfamily_Rho_GAP DEPDC1 55635 genome.wustl.edu 37 1 68948316 68948316 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114120.1 -1 validated p.A392V 0.058 189 0% 55 41.8% 15 53.3% benign(0.001) tolerated(0.31) neutral(0.027) superfamily_Rho_GAP LRRC7 57554 genome.wustl.edu 37 1 70501808 70501808 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020794.2 +1 validated p.S629Y 1.000 110 0.9% 64 43.8% 0 - possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL LRRC40 55631 genome.wustl.edu 37 1 70650521 70650521 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017768.4 -1 validated p.E162* 1.000 223 0% 158 46.2% 8 0% - - - HMMPfam_LRR_1,superfamily_SSF52058 CTH 1491 genome.wustl.edu 37 1 70881669 70881669 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001902.4 +1 reviewed p.T67A 1.000 167 0% 139 51.1% 2 100% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Cys_Met_Meta_PP,superfamily_PLP-dependent transferases PTGER3 5733 genome.wustl.edu 37 1 71512571 71512571 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198718.1 -1 reviewed p.F230 0.994 31 0% 19 78.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 NEGR1 257194 genome.wustl.edu 37 1 72241878 72241878 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173808.2 -1 validated p.S171Y 1.000 131 0% 41 58.5% 0 - possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 LRRIQ3 127255 genome.wustl.edu 37 1 74506974 74506974 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105659.1 -1 provisional p.E547D 0.008 180 0% 83 51.8% 0 - benign(0.012) tolerated(0.34) neutral(0.024) NULL LRRIQ3 127255 genome.wustl.edu 37 1 74507380 74507380 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105659.1 -1 provisional p.R412I 0.002 530 0% 110 50.9% 0 - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL LRRIQ3 127255 genome.wustl.edu 37 1 74649194 74649194 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105659.1 -1 provisional p.N59D 1.000 63 0% 50 36% 1 0% benign(0.347) tolerated(0.48) neutral(0.120) superfamily_Outer arm dynein light chain 1 LRRIQ3 127255 genome.wustl.edu 37 1 74649284 74649284 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105659.1 -1 provisional p.D29Y 1.000 97 0% 65 60% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Outer arm dynein light chain 1 TNNI3K 51086 genome.wustl.edu 37 1 74701812 74701812 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112808.1 +1 validated p.S124A 1.000 177 0% 44 36.4% 0 - possibly_damaging(0.937) tolerated(1) neutral(0.383) NULL ACADM 34 genome.wustl.edu 37 1 76215151 76215151 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127328.1 +1 reviewed p.F256 1.000 206 1% 198 43.4% 46 54.3% - - - superfamily_Acyl-CoA dehydrogenase NM domain-like ASB17 127247 genome.wustl.edu 37 1 76384650 76384650 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080868.2 -1 validated p.N292T 1.000 291 0% 174 44.8% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_SOCS_box PIGK 10026 genome.wustl.edu 37 1 77629586 77629586 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005482.2 -1 reviewed p.E177* 1.000 195 0% 52 34.6% 11 0% - - - HMMPfam_Peptidase_C13 PIGK 10026 genome.wustl.edu 37 1 77634966 77634966 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005482.2 -1 reviewed p.E118D 1.000 267 0% 119 42% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C13 AK5 26289 genome.wustl.edu 37 1 77987619 77987619 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174858.1 +1 reviewed p.F473 0.970 89 0% 31 41.9% 4 25% - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM73A 374986 genome.wustl.edu 37 1 78324724 78324724 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198549.2 +1 predicted p.I366M 1.000 135 0% 89 34.8% 0 - benign(0.238) deleterious(0) deleterious(0.469) HMMPfam_DUF2217 NEXN 91624 genome.wustl.edu 37 1 78392148 78392148 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144573.3 +1 reviewed p.K180T 0.152 78 0% 99 53.5% 0 - possibly_damaging(0.89) tolerated(0.07) deleterious(0.669) NULL NEXN 91624 genome.wustl.edu 37 1 78392235 78392235 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000342754 +1 known p.E109* 0.905 120 0% 109 17.4% 1 0% possibly_damaging(0.916) deleterious(0.02) deleterious(0.750) NULL FUBP1 8880 genome.wustl.edu 37 1 78428511 78428511 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003902.3 -1 reviewed p.R430C 1.000 223 0% 141 46.8% 68 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) DNAJB4 11080 genome.wustl.edu 37 1 78470925 78470925 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007034.3 +1 provisional p.K44T 1.000 75 0% 79 45.6% 7 42.8% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain PTGFR 5737 genome.wustl.edu 37 1 79002311 79002311 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000959.3 +1 reviewed p.N340T 1.000 102 0% 15 60% 0 - benign(0.113) deleterious(0.02) neutral(0.392) NULL IFI44L 10964 genome.wustl.edu 37 1 79107273 79107273 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006820.2 +1 validated p.D435Y 0.921 437 0% 79 45.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ELTD1 64123 genome.wustl.edu 37 1 79385947 79385947 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022159.3 -1 validated p.T461I 1.000 104 0% 36 61.1% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2 TTLL7 79739 genome.wustl.edu 37 1 84356121 84356121 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024686.4 -1 validated p.R751H 1.000 109 0% 18 33.3% 7 42.8% possibly_damaging(0.697) tolerated(0.11) deleterious(0.522) NULL TTLL7 79739 genome.wustl.edu 37 1 84387010 84387010 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024686.4 -1 validated p.N404H 1.000 334 0% 81 46.9% 8 37.5% possibly_damaging(0.807) tolerated(0.14) deleterious(0.553) NULL TTLL7 79739 genome.wustl.edu 37 1 84417540 84417540 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024686.4 -1 validated p.K49Q 1.000 97 0% 113 41.6% 2 50% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL CTBS 1486 genome.wustl.edu 37 1 85035706 85035706 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004388.2 -1 validated p.E145K 1.000 101 0% 131 45% 6 16.6% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases SSX2IP 117178 genome.wustl.edu 37 1 85128048 85128048 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014021.3 -1 reviewed p.E254* 1.000 322 0% 161 46.6% 10 20% - - - NULL LPAR3 23566 genome.wustl.edu 37 1 85331531 85331531 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012152.2 -1 reviewed p.G91 0.999 102 0% 45 48.9% 7 57.1% - - - HMMPfam_7tm_1,superfamily_SSF81321 MCOLN2 255231 genome.wustl.edu 37 1 85424222 85424222 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153259.2 -1 reviewed p.A134D 0.997 72 0% 33 54.5% 1 0% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL SYDE2 84144 genome.wustl.edu 37 1 85647856 85647856 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032184.1 -1 validated p.E823D 1.000 119 0% 86 41.9% 2 0% possibly_damaging(0.827) deleterious(0.01) deleterious(0.720) superfamily_GTPase activation domain GAP SYDE2 84144 genome.wustl.edu 37 1 85648709 85648709 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032184.1 -1 validated p.F539C 1.000 211 0% 127 37% 3 33.3% benign(0.3) deleterious(0) deleterious(0.537) NULL SYDE2 84144 genome.wustl.edu 37 1 85666159 85666159 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032184.1 -1 validated p.R174H 0.002 35 0% 20 60% 1 0% benign(0) tolerated(1) - NULL CYR61 3491 genome.wustl.edu 37 1 86048229 86048229 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001554.4 +1 validated p.N255 1.000 76 0% 93 52.7% 258 39.1% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat COL24A1 255631 genome.wustl.edu 37 1 86211174 86211174 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152890.5 -1 validated p.N1485H 1.000 143 0% 122 45.9% 0 - probably_damaging(0.976) tolerated(0.6) neutral(0.422) NULL ODF2L 57489 genome.wustl.edu 37 1 86836772 86836772 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020729.2 -1 validated p.E329* 1.000 136 0% 107 45.8% 8 12.5% - - - NULL ODF2L 57489 genome.wustl.edu 37 1 86851215 86851215 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020729.2 -1 validated p.E58K 0.530 136 0% 63 49.2% 15 20% benign(0.422) deleterious(0.01) deleterious(0.542) NULL CLCA2 9635 genome.wustl.edu 37 1 86904627 86904627 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006536.5 +1 reviewed p.T347 0.001 296 0% 44 50% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 CLCA1 1179 genome.wustl.edu 37 1 86934674 86934674 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001285.3 +1 reviewed p.S7Y 0.076 400 0% 119 41.2% 0 - benign(0.069) tolerated(0.89) neutral(0.004) HMMPfam_CLCA_N CLCA1 1179 genome.wustl.edu 37 1 86952422 86952422 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001285.3 +1 reviewed p.R390* 0.016 253 0% 33 36.4% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like CLCA4 22802 genome.wustl.edu 37 1 87025936 87025936 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012128.3 +1 reviewed p.E115* 0.982 410 0% 91 44% 0 - - - - HMMPfam_CLCA_N CLCA4 22802 genome.wustl.edu 37 1 87045226 87045226 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012128.3 +1 reviewed p.I771S 0.000 278 0% 35 40% 0 - benign(0) tolerated(0.79) neutral(0.001) NULL CLCA4 22802 genome.wustl.edu 37 1 87045767 87045767 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012128.3 +1 reviewed p.I833 0.126 174 0% 23 47.8% 0 - - - - NULL SH3GLB1 51100 genome.wustl.edu 37 1 87185243 87185243 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016009.3 +1 validated p.R90C 1.000 58 1.7% 84 42.9% 69 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAR,HMMSmart_SM00721 PKN2 5586 genome.wustl.edu 37 1 89206681 89206681 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006256.2 +1 validated p.R20Q 1.000 64 0% 36 52.8% 1 100% possibly_damaging(0.623) tolerated(0.14) neutral(0.467) NULL PKN2 5586 genome.wustl.edu 37 1 89270582 89270582 + Missense_Mutation SNP G G T rs147713481 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006256.2 +1 validated p.K493N 1.000 48 0% 62 35.5% 9 11.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PKN2 5586 genome.wustl.edu 37 1 89287653 89287653 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006256.2 +1 validated p.L770S 1.000 218 0% 164 42.1% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PKN2 5586 genome.wustl.edu 37 1 89298521 89298521 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006256.2 +1 validated p.S886Y 1.000 68 0% 49 57.1% 24 37.5% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GBP1 2633 genome.wustl.edu 37 1 89521796 89521796 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002053.2 -1 validated p.A424V 0.001 221 0% 206 35% 17 0% benign(0.012) tolerated(0.2) neutral(0.050) HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain LRRC8C 84230 genome.wustl.edu 37 1 90180019 90180019 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032270.4 +1 validated p.I630 0.047 61 1.6% 29 58.6% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LRRC8D 55144 genome.wustl.edu 37 1 90398818 90398818 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134479.1 +1 validated p.S64* 1.000 243 0% 89 42.7% 33 33.3% - - - NULL ZNF326 284695 genome.wustl.edu 37 1 90473167 90473167 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182976.2 +1 validated p.S158N 1.000 162 0% 32 50% 12 75% possibly_damaging(0.807) tolerated(0.34) neutral(0.327) NULL HFM1 164045 genome.wustl.edu 37 1 91731608 91731608 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017975.3 -1 validated p.S1314A 0.998 326 0% 229 33.2% 0 - benign(0.137) tolerated(0.16) neutral(0.071) NULL HFM1 164045 genome.wustl.edu 37 1 91733350 91733350 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017975.3 -1 validated p.L1279V 0.964 160 0% 110 41.8% 2 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL HFM1 164045 genome.wustl.edu 37 1 91790316 91790316 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000430465 -1 known p.E37G 1.000 72 0% 76 43.4% 0 - - - - HMMPfam_Sec63 HFM1 164045 genome.wustl.edu 37 1 91809054 91809054 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017975.3 -1 validated p.K756N 1.000 45 0% 51 31.4% 1 100% possibly_damaging(0.889) tolerated(0.13) deleterious(0.602) NULL HFM1 164045 genome.wustl.edu 37 1 91818062 91818062 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017975.3 -1 validated e15+1 1.000 110 0% 42 61.9% 0 - - - - - HFM1 164045 genome.wustl.edu 37 1 91844691 91844691 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017975.3 -1 validated p.E363* 1.000 311 0% 68 41.2% 3 66.6% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HFM1 164045 genome.wustl.edu 37 1 91846513 91846513 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017975.3 -1 validated p.E277* 1.000 111 0% 48 31.2% 0 - - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases BRDT 676 genome.wustl.edu 37 1 92433818 92433818 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001726.3 +1 validated e3+1 0.953 187 0% 152 48% 0 - - - - - BRDT 676 genome.wustl.edu 37 1 92446848 92446848 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001726.3 +1 validated p.E592* 1.000 161 0% 199 41.2% 0 - - - - NULL BRDT 676 genome.wustl.edu 37 1 92470743 92470743 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001726.3 +1 validated p.E888* 0.079 184 0% 76 46.1% 0 - - - - NULL LOC646817 646817 genome.wustl.edu 37 1 92540535 92540535 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_929774.4 -1 model p.P155H 1.000 18 0% 46 32.6% 40 0% - - - HMMPfam_NAP BTBD8 284697 genome.wustl.edu 37 1 92612806 92612806 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183242.3 +1 validated p.L334I 1.000 369 0% 173 49.1% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA1107 23285 genome.wustl.edu 37 1 92643377 92643377 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015237.2 +1 validated p.S350Y 0.978 78 0% 90 48.9% 0 - benign(0.002) tolerated(0.1) neutral(0.286) NULL KIAA1107 23285 genome.wustl.edu 37 1 92647664 92647664 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015237.2 +1 validated p.I1037S 0.739 112 0% 98 41.8% 2 50% benign(0.255) deleterious(0.01) neutral(0.432) NULL C1orf146 388649 genome.wustl.edu 37 1 92707847 92707847 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012425.1 +1 validated p.I49L 1.000 192 0% 124 50.8% 0 - benign(0.006) tolerated(0.11) neutral(0.272) NULL GLMN 11146 genome.wustl.edu 37 1 92754543 92754543 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053274.2 -1 reviewed p.F187C 1.000 188 0% 160 48.7% 13 61.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FKBP12 EVI5 7813 genome.wustl.edu 37 1 93163485 93163485 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005665.4 -1 validated p.R277C 1.000 235 0% 162 43.2% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164 MTF2 22823 genome.wustl.edu 37 1 93592843 93592843 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007358.3 +1 validated p.D326Y 1.000 228 0% 92 37% 15 53.3% possibly_damaging(0.845) deleterious(0.01) deleterious(0.730) NULL MTF2 22823 genome.wustl.edu 37 1 93602354 93602354 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007358.3 +1 validated p.D518Y 1.000 105 0% 35 37.1% 27 37% possibly_damaging(0.815) tolerated(0.07) deleterious(0.627) NULL DR1 1810 genome.wustl.edu 37 1 93812363 93812363 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001938.2 +1 reviewed p.A54V 1.000 79 0% 105 38.1% 48 54.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CBFD_NFYB_HMF,superfamily_Histone-fold ARHGAP29 9411 genome.wustl.edu 37 1 94645318 94645318 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004815.3 -1 validated p.F815V 1.000 147 0% 145 44.1% 16 25% possibly_damaging(0.561) tolerated(0.16) neutral(0.251) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ABCD3 5825 genome.wustl.edu 37 1 94964528 94964528 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002858.3 +1 reviewed p.R520* 1.000 115 0% 97 48.5% 18 11.1% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases RWDD3 25950 genome.wustl.edu 37 1 95710241 95710241 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015485.4 +1 validated p.R187I 0.967 82 0% 36 11.1% 13 7.6% probably_damaging(0.974) deleterious(0.02) deleterious(0.799) NULL RWDD3 25950 genome.wustl.edu 37 1 95712161 95712161 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015485.4 +1 validated p.E213K 1.000 186 0.5% 163 13.5% 16 18.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTBP2 58155 genome.wustl.edu 37 1 97250676 97250676 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021190.2 +1 reviewed p.L257R 1.000 126 0% 116 34.5% 5 100% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_RNA-binding domain RBD PTBP2 58155 genome.wustl.edu 37 1 97272007 97272007 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021190.2 +1 reviewed p.F359 1.000 887 0% 296 44.9% 6 33.3% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SNX7 51375 genome.wustl.edu 37 1 99164437 99164437 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015976.3 +1 reviewed p.Y338 0.922 118 0% 39 28.2% 63 41.2% - - - NULL AGL 178 genome.wustl.edu 37 1 100349967 100349967 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000028.2 +1 reviewed p.E836* 1.000 78 0% 85 15.3% 12 8.3% - - - NULL CCDC76 54482 genome.wustl.edu 37 1 100613556 100613556 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019083.2 +1 validated p.I308M 0.025 171 0% 76 38.2% 5 20% benign(0.077) tolerated(0.29) neutral(0.035) HMMPfam_TRM13 CCDC76 54482 genome.wustl.edu 37 1 100614347 100614347 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019083.2 +1 validated p.H473N 0.003 182 0% 57 42.1% 11 54.5% benign(0.022) tolerated(0.62) neutral(0.005) NULL LRRC39 127495 genome.wustl.edu 37 1 100620722 100620722 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144620.2 -1 provisional p.E233* 1.000 257 0% 209 47.8% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like DBT 1629 genome.wustl.edu 37 1 100671850 100671850 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001918.2 -1 reviewed p.G406D 1.000 69 0% 120 45% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2-oxoacid_dh,superfamily_CoA-dependent acyltransferases VCAM1 7412 genome.wustl.edu 37 1 101188881 101188881 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001078.2 +1 reviewed p.E216* 0.000 113 0.9% 25 36% 4 0% - - - HMMPfam_C2-set,superfamily_Immunoglobulin EXTL2 2135 genome.wustl.edu 37 1 101339973 101339973 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033025.1 -1 validated p.Q173R 1.000 78 0% 13 30.8% 13 53.8% benign(0.001) tolerated(1) - HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases SLC30A7 148867 genome.wustl.edu 37 1 101379278 101379278 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144884.1 +1 validated p.D191N 1.000 240 0% 22 45.5% 5 20% benign(0.071) tolerated(0.34) neutral(0.028) HMMPfam_Cation_efflux SLC30A7 148867 genome.wustl.edu 37 1 101427428 101427428 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144884.1 +1 validated p.R296I 1.000 187 0% 233 49.4% 5 60% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cation_efflux OLFM3 118427 genome.wustl.edu 37 1 102270222 102270222 + Splice_Site SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000424771 -1 known e3+1 1.000 183 0% 14 57.1% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) - COL11A1 1301 genome.wustl.edu 37 1 103347273 103347273 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080629.2 -1 reviewed p.E1686* 1.000 177 0% 99 47.5% 1 0% - - - HMMPfam_COLFI,HMMSmart_COLFI RNPC3 55599 genome.wustl.edu 37 1 104087652 104087652 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017619.3 +1 reviewed p.E379* 0.998 74 0% 87 44.8% 7 14.2% - - - NULL AMY2B 280 genome.wustl.edu 37 1 104122071 104122071 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020978.3 +1 reviewed p.S495 1.000 353 0% 110 47.3% 3 66.6% - - - HMMPfam_Alpha-amylase_C,HMMSmart_SM00632,superfamily_Glycosyl hydrolase domain AMY2A 279 genome.wustl.edu 37 1 104162220 104162220 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000699.2 +1 reviewed p.E186D 1.000 754 0% 259 25.5% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Alpha-amylase,HMMSmart_Aamy,superfamily_Glyco_hydro_cat LOC100129138 100129138 genome.wustl.edu 37 1 104615796 104615796 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_036957.2 +1 model NULL 0.001 40 0% 14 42.9% 1 0% - - - - PRMT6 55170 genome.wustl.edu 37 1 107600445 107600445 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018137.2 +1 validated p.D311Y 1.000 124 0% 37 40.5% 39 23% benign(0.001) tolerated(1) - NULL VAV3 10451 genome.wustl.edu 37 1 108247226 108247226 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006113.4 -1 reviewed p.A551T 1.000 211 0% 96 53.1% 0 - benign(0.013) tolerated(0.16) neutral(0.060) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain FAM102B 284611 genome.wustl.edu 37 1 109167314 109167314 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010883.2 +1 validated p.S167Y 1.000 615 0% 156 39.7% 2 100% possibly_damaging(0.624) deleterious(0.01) deleterious(0.623) NULL PRPF38B 55119 genome.wustl.edu 37 1 109238668 109238668 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018061.2 +1 validated p.R117* 1.000 214 0% 171 50.3% 20 25% - - - HMMPfam_PRP38 PRPF38B 55119 genome.wustl.edu 37 1 109241957 109241957 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018061.2 +1 validated p.R319Q 1.000 77 0% 26 50% 38 23.6% unknown(0) tolerated(0.07) - NULL FNDC7 163479 genome.wustl.edu 37 1 109261553 109261553 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000370019 +1 known p.L133R 0.992 117 0% 66 50% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III STXBP3 6814 genome.wustl.edu 37 1 109321941 109321941 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007269.2 +1 validated p.R240C 1.000 441 0.2% 106 42.5% 20 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec1,superfamily_Sec1-like STXBP3 6814 genome.wustl.edu 37 1 109337466 109337466 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007269.2 +1 validated p.N349 0.959 133 0% 115 53% 22 27.2% - - - HMMPfam_Sec1,superfamily_Sec1-like AKNAD1 254268 genome.wustl.edu 37 1 109363215 109363215 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152763.3 -1 validated p.R734I 0.004 140 0% 193 47.7% 0 - possibly_damaging(0.604) deleterious(0.05) deleterious(0.555) NULL AKNAD1 254268 genome.wustl.edu 37 1 109391385 109391385 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152763.3 -1 validated p.D412N 0.588 79 0% 151 36.4% 0 - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) NULL AKNAD1 254268 genome.wustl.edu 37 1 109395029 109395029 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152763.3 -1 validated p.E86D 0.000 179 0% 143 42% 0 - benign(0) tolerated(1) - NULL C1orf194 127003 genome.wustl.edu 37 1 109649663 109649663 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122961.1 -1 validated p.L82M 0.188 193 0% 102 42.2% 1 0% probably_damaging(0.977) deleterious(0.03) deleterious(0.783) NULL SARS 6301 genome.wustl.edu 37 1 109779016 109779016 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006513.2 +1 reviewed p.S368Y 1.000 48 0% 55 18.2% 147 13.6% benign(0.257) deleterious(0) deleterious(0.471) HMMPfam_tRNA-synt_2b,superfamily_Class II aaRS and biotin synthetases MYBPHL 343263 genome.wustl.edu 37 1 109838952 109838952 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010985.2 -1 validated p.F257L 1.000 110 0% 74 54.1% 0 - benign(0.002) tolerated(0.18) neutral(0.056) superfamily_Immunoglobulin SYPL2 284612 genome.wustl.edu 37 1 110020512 110020512 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040709.1 +1 validated p.D177N 1.000 186 0.5% 65 38.5% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_MARVEL GNAI3 2773 genome.wustl.edu 37 1 110091367 110091367 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006496.2 +1 validated p.D9Y 1.000 54 0% 30 40% 58 48.2% probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMPfam_G-alpha,superfamily_P-loop containing nucleoside triphosphate hydrolases GSTM2 2946 genome.wustl.edu 37 1 110211103 110211103 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000848.3 +1 reviewed p.K31N 0.952 86 0% 57 42.1% 7 28.5% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_GST_N,superfamily_Thiordxn-like_fd FAM40A 85369 genome.wustl.edu 37 1 110585882 110585882 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033088.2 +1 validated p.R353Q 0.999 26 0% 27 44.4% 17 47% possibly_damaging(0.613) tolerated(0.6) neutral(0.217) HMMPfam_N1221 SLC6A17 388662 genome.wustl.edu 37 1 110714724 110714724 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010898.2 +1 validated p.G110E 1.000 114 0% 41 48.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF RBM15 64783 genome.wustl.edu 37 1 110882636 110882636 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022768.4 +1 validated p.K203N 1.000 19 0% 22 40.9% 1 0% probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMSmart_SM00360,superfamily_RNA-binding domain RBD HBXIP 10542 genome.wustl.edu 37 1 110948950 110948950 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006402.2 -1 reviewed p.L111 0.640 71 0% 116 43.1% 256 45.7% - - - NULL KCNA3 3738 genome.wustl.edu 37 1 111215979 111215979 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002232.3 -1 reviewed p.Y485D 1.000 94 0% 49 49% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81324 LRIF1 55791 genome.wustl.edu 37 1 111494174 111494174 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018372.3 -1 validated p.K444N 1.000 595 0% 201 50.7% 6 83.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DENND2D 79961 genome.wustl.edu 37 1 111730937 111730937 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024901.3 -1 provisional p.K385N 1.000 94 0% 41 51.2% 7 42.8% possibly_damaging(0.842) deleterious(0.01) deleterious(0.728) HMMPfam_dDENN,HMMSmart_SM00801 DENND2D 79961 genome.wustl.edu 37 1 111731336 111731336 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024901.3 -1 provisional p.N363D 0.000 124 0% 52 34.6% 3 66.6% benign(0) tolerated(0.19) neutral(0.050) NULL DENND2D 79961 genome.wustl.edu 37 1 111742286 111742286 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024901.3 -1 provisional p.E68K 0.001 103 0% 73 37% 4 25% benign(0) tolerated(0.44) neutral(0.013) HMMPfam_uDENN,HMMSmart_SM00800 CHI3L2 1117 genome.wustl.edu 37 1 111773881 111773881 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004000.2 +1 validated p.L98 0.922 129 0.8% 226 42.9% 1 0% - - - HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat OVGP1 5016 genome.wustl.edu 37 1 111969225 111969225 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002557.3 -1 reviewed p.A32T 1.000 300 0% 52 21.2% 0 - possibly_damaging(0.516) deleterious(0.03) deleterious(0.538) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases LOC100287536 100287536 genome.wustl.edu 37 1 111984542 111984542 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342100.1 +1 model p.E145D 0.000 58 0% 26 46.2% 4 25% - - - NULL FAM212B 55924 genome.wustl.edu 37 1 112270030 112270030 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019099.4 -1 validated p.R152* 1.000 248 0% 34 44.1% 1 0% - - - NULL FAM212B 55924 genome.wustl.edu 37 1 112270172 112270172 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019099.4 -1 validated p.K104N 0.000 154 0% 31 16.1% 2 0% benign(0.009) tolerated(0.46) neutral(0.013) NULL CTTNBP2NL 55917 genome.wustl.edu 37 1 112998696 112998696 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018704.2 +1 validated p.A194 0.553 145 0% 57 47.4% 19 31.5% - - - HMMPfam_CortBP2 ST7L 54879 genome.wustl.edu 37 1 113125061 113125061 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000418497 -1 known p.E169* 1.000 328 0% 493 44.4% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ST7 MAGI3 260425 genome.wustl.edu 37 1 114226481 114226481 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142782.1 +1 validated p.E1431* 0.002 79 0% 127 48% 20 40% - - - NULL RSBN1 54665 genome.wustl.edu 37 1 114308990 114308990 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018364.3 -1 validated p.D674A 1.000 104 0% 47 34% 26 69.2% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL RSBN1 54665 genome.wustl.edu 37 1 114310956 114310956 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018364.3 -1 validated p.E572K 1.000 262 0% 110 50.9% 10 50% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL PTPN22 26191 genome.wustl.edu 37 1 114399182 114399182 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015967.4 -1 reviewed p.F156L 1.000 240 0.4% 109 43.1% 2 0% possibly_damaging(0.579) tolerated(0.05) deleterious(0.544) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 BCL2L15 440603 genome.wustl.edu 37 1 114424511 114424511 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010922.2 -1 validated p.L120I 0.194 173 0% 74 36.5% 10 30% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL DENND2C 163259 genome.wustl.edu 37 1 115143520 115143520 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198459.3 -1 validated p.R569Q 1.000 212 0% 72 33.3% 0 - possibly_damaging(0.707) tolerated(0.19) neutral(0.304) HMMPfam_DENN,HMMSmart_DENN DENND2C 163259 genome.wustl.edu 37 1 115166229 115166229 + Missense_Mutation SNP C C T rs189506550 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198459.3 -1 validated p.R281Q 1.000 158 0% 94 48.9% 0 - possibly_damaging(0.626) tolerated(0.41) neutral(0.233) NULL AMPD1 270 genome.wustl.edu 37 1 115231306 115231306 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000036.2 -1 reviewed p.D31Y 1.000 157 0% 56 41.1% 0 - possibly_damaging(0.87) deleterious(0) deleterious(0.782) NULL AMPD1 270 genome.wustl.edu 37 1 115238109 115238109 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000369538 -1 known p.S28* 0.122 203 0% 97 49.5% 0 - - - - NULL NRAS 4893 genome.wustl.edu 37 1 115251242 115251242 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002524.3 -1 reviewed p.E162* 1.000 471 0% 192 10.4% 59 1.6% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CSDE1 7812 genome.wustl.edu 37 1 115267948 115267948 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130523.1 -1 validated p.F564L 1.000 630 0% 179 44.1% 413 47.6% benign(0) tolerated(0.07) neutral(0.319) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK CSDE1 7812 genome.wustl.edu 37 1 115276691 115276691 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130523.1 -1 validated p.F225L 1.000 116 0.9% 67 47.8% 262 50.7% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK TSPAN2 10100 genome.wustl.edu 37 1 115596074 115596074 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005725.4 -1 reviewed p.D176N 0.998 313 0% 56 55.4% 2 0% benign(0.001) tolerated(0.19) neutral(0.050) superfamily_Tetraspanin,HMMPfam_Tetraspannin NGF 4803 genome.wustl.edu 37 1 115829101 115829101 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002506.2 -1 reviewed p.E106K 0.021 151 0% 59 49.2% 0 - benign(0.029) tolerated(0.45) neutral(0.013) NULL SLC22A15 55356 genome.wustl.edu 37 1 116569517 116569517 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018420.2 +1 validated p.S201L 1.000 375 0.3% 113 34.5% 0 - benign(0.084) tolerated(0.15) neutral(0.247) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter SLC22A15 55356 genome.wustl.edu 37 1 116609279 116609279 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018420.2 +1 validated p.R502S 0.376 125 0% 21 47.6% 1 0% benign(0.337) deleterious(0.02) deleterious(0.489) NULL ATP1A1 476 genome.wustl.edu 37 1 116930826 116930826 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000701.7 +1 reviewed p.S154I 1.000 212 0% 103 42.7% 122 51.6% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M ATP1A1 476 genome.wustl.edu 37 1 116937891 116937891 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000701.7 +1 reviewed p.R607Q 0.999 271 0% 74 37.8% 297 31.3% possibly_damaging(0.941) tolerated(0.09) deleterious(0.683) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M TTF2 8458 genome.wustl.edu 37 1 117634571 117634571 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003594.3 +1 reviewed p.S935L 1.000 107 0% 24 66.7% 13 46.1% possibly_damaging(0.496) tolerated(0.2) neutral(0.215) NULL TTF2 8458 genome.wustl.edu 37 1 117644036 117644036 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003594.3 +1 reviewed p.L1127V 0.993 76 0% 53 34% 16 43.7% benign(0.005) tolerated(0.1) neutral(0.286) superfamily_P-loop containing nucleoside triphosphate hydrolases MAN1A2 10905 genome.wustl.edu 37 1 117944840 117944840 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006699.3 +1 validated p.R112Q 1.000 110 0% 52 44.2% 11 36.3% benign(0.337) tolerated(0.49) neutral(0.116) NULL SPAG17 200162 genome.wustl.edu 37 1 118598378 118598378 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206996.2 -1 validated p.I900M 0.000 211 0% 137 48.2% 1 100% probably_damaging(0.995) tolerated(0.15) deleterious(0.699) NULL SPAG17 200162 genome.wustl.edu 37 1 118628628 118628628 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206996.2 -1 validated p.F560C 0.942 299 0% 95 40% 1 100% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL TBX15 6913 genome.wustl.edu 37 1 119427530 119427530 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152380.2 -1 reviewed p.S439Y 1.000 112 0% 53 34% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL HSD3B2 3284 genome.wustl.edu 37 1 119958096 119958096 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000198.3 +1 reviewed p.I18 0.571 291 0% 77 51.9% 0 - - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-binding Rossmann-fold domains HSD3B2 3284 genome.wustl.edu 37 1 119964717 119964717 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000198.3 +1 reviewed p.S198Y 0.000 78 0% 41 34.1% 0 - benign(0) tolerated(1) - HMMPfam_3Beta_HSD,superfamily_NAD(P)-binding Rossmann-fold domains HMGCS2 3158 genome.wustl.edu 37 1 120302570 120302570 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005518.3 -1 reviewed p.P201H 1.000 40 0% 21 61.9% 6 50% possibly_damaging(0.754) deleterious(0.01) deleterious(0.683) HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like ADAM30 11085 genome.wustl.edu 37 1 120437480 120437480 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021794.2 -1 reviewed p.R494C 0.000 110 0% 53 47.2% 0 - possibly_damaging(0.736) deleterious(0.01) deleterious(0.675) HMMPfam_ADAM_CR,HMMSmart_SM00608 NOTCH2 4853 genome.wustl.edu 37 1 120458859 120458859 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024408.2 -1 reviewed p.S2162 0.986 302 0.3% 76 51.3% 17 70.5% - - - NULL NOTCH2 4853 genome.wustl.edu 37 1 120512179 120512179 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024408.2 -1 reviewed p.D355N 1.000 169 0% 22 45.5% 8 62.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 FAM72B 653820 genome.wustl.edu 37 1 120846048 120846048 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100910.1 +1 predicted p.S95F 1.000 622 0% 423 44% 9 33.3% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL FCGR1B 2210 genome.wustl.edu 37 1 120927306 120927306 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017986.2 -1 validated p.R225I 0.025 165 0% 262 30.9% 3 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144863443 144863443 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014644.4 -1 validated e37-1 1.000 262 0% 118 24.6% 0 - - - - - PDE4DIP 9659 genome.wustl.edu 37 1 144871857 144871857 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014644.4 -1 validated p.K1702R 0.996 201 0% 64 15.6% 0 - unknown(0) deleterious(0.03) - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144874875 144874875 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014644.4 -1 validated p.K1578R 1.000 275 0% 58 22.4% 0 - unknown(0) tolerated(0.05) - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144882580 144882580 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014644.4 -1 validated p.E1147K 0.002 294 0% 198 20.7% 2 0% unknown(0) deleterious(0.01) - NULL PEX11B 8799 genome.wustl.edu 37 1 145522788 145522788 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003846.2 +1 validated p.D217N 1.000 236 0% 55 45.5% 23 39.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PEX11 FMO5 2330 genome.wustl.edu 37 1 146672739 146672739 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001461.2 -1 reviewed p.F393C 1.000 198 0% 93 38.7% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains CHD1L 9557 genome.wustl.edu 37 1 146728209 146728209 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004284.3 +1 validated p.L163 1.000 357 0% 226 42% 9 44.4% - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CA14 23632 genome.wustl.edu 37 1 150235807 150235807 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012113.1 +1 reviewed p.S277Y 1.000 96 0% 84 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase RPRD2 23248 genome.wustl.edu 37 1 150443139 150443139 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015203.3 +1 validated p.T572N 0.000 259 0% 196 38.3% 22 40.9% benign(0.011) deleterious(0.02) neutral(0.384) NULL ECM1 1893 genome.wustl.edu 37 1 150485747 150485747 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004425.3 +1 reviewed p.R476Q 0.806 188 0% 144 50% 19 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_ECM1 HORMAD1 84072 genome.wustl.edu 37 1 150681425 150681425 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032132.3 -1 provisional p.C114R 1.000 169 0% 209 41.1% 1 0% possibly_damaging(0.883) tolerated(0.06) deleterious(0.667) HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2 CTSS 1520 genome.wustl.edu 37 1 150705587 150705587 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004079.3 -1 reviewed p.R311W 1.000 60 0% 211 40.8% 42 16.6% probably_damaging(1) tolerated(0.1) deleterious(0.786) PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 PRUNE 58497 genome.wustl.edu 37 1 151001302 151001302 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021222.1 +1 provisional p.A272V 0.578 379 0% 113 44.2% 16 62.5% benign(0.167) tolerated(0.26) neutral(0.049) HMMPfam_DHHA2,superfamily_DHH phosphoesterases LYSMD1 388695 genome.wustl.edu 37 1 151134520 151134520 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_212551.4 -1 validated p.K79N 1.000 356 0.3% 198 43.4% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LysM,HMMPfam_LysM,superfamily_SSF54106 TMOD4 29765 genome.wustl.edu 37 1 151146916 151146916 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013353.2 -1 validated p.L77 0.968 198 0% 65 30.8% 0 - - - - HMMPfam_Tropomodulin PIP5K1A 8394 genome.wustl.edu 37 1 151211608 151211608 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135638.1 +1 validated p.F411C 1.000 232 0% 232 36.2% 27 48.1% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like POGZ 23126 genome.wustl.edu 37 1 151413450 151413450 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015100.2 -1 reviewed p.S79 1.000 157 0% 85 37.6% 5 40% - - - NULL OAZ3 51686 genome.wustl.edu 37 1 151739764 151739764 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016178.2 +1 reviewed p.E98* 1.000 62 0% 57 43.9% 5 60% - - - HMMPfam_ODC_AZ THEM4 117145 genome.wustl.edu 37 1 151861743 151861743 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053055.3 -1 reviewed p.E131D 0.587 100 0% 108 45.4% 9 44.4% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) superfamily_SSF54637 THEM4 117145 genome.wustl.edu 37 1 151867530 151867530 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053055.3 -1 reviewed p.K80 0.000 389 0% 159 52.8% 14 50% - - - NULL TCHH 7062 genome.wustl.edu 37 1 152082206 152082206 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007113.2 -1 provisional p.R1163C 0.995 1239 0.1% 236 40.3% 3 0% unknown(0) - - NULL TCHH 7062 genome.wustl.edu 37 1 152085134 152085134 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007113.2 -1 provisional p.R187C 0.000 183 0% 183 49.7% 0 - unknown(0) - - NULL HRNR 388697 genome.wustl.edu 37 1 152186804 152186804 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009931.1 -1 validated p.Y2434C 0.000 236 0% 313 12.5% 0 - unknown(0) - - NULL HRNR 388697 genome.wustl.edu 37 1 152187482 152187482 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009931.1 -1 validated p.S2208Y 0.334 183 0% 226 9.3% 2 0% unknown(0) - - NULL HRNR 388697 genome.wustl.edu 37 1 152188121 152188121 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009931.1 -1 validated p.S1995Y 0.000 199 0% 309 17.5% 0 - unknown(0) - - NULL FLG 2312 genome.wustl.edu 37 1 152275327 152275327 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002016.1 -1 reviewed p.S4012Y 0.000 184 0% 136 47.8% 0 - possibly_damaging(0.922) deleterious(0.03) deleterious(0.736) NULL FLG 2312 genome.wustl.edu 37 1 152275549 152275549 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002016.1 -1 reviewed p.S3938Y 0.000 166 0% 101 43.6% 1 100% possibly_damaging(0.948) tolerated(0.07) deleterious(0.710) NULL FLG 2312 genome.wustl.edu 37 1 152287836 152287836 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002016.1 -1 reviewed p.L33 1.000 185 0% 240 39.6% 0 - - - - HMMPfam_S_100,superfamily_SSF47473 FLG2 388698 genome.wustl.edu 37 1 152324007 152324007 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014342.2 -1 provisional p.S2085 0.000 771 0.1% 229 42.4% 0 - - - - NULL FLG2 388698 genome.wustl.edu 37 1 152326548 152326548 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014342.2 -1 provisional p.T1238 0.000 405 0% 157 44.6% 0 - - - - NULL FLG2 388698 genome.wustl.edu 37 1 152326695 152326695 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014342.2 -1 provisional p.F1189L 0.000 174 0% 91 38.5% 0 - unknown(0) tolerated(0.68) - NULL FLG2 388698 genome.wustl.edu 37 1 152327118 152327118 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014342.2 -1 provisional p.S1048 0.000 343 0% 132 50% 0 - - - - NULL FLG2 388698 genome.wustl.edu 37 1 152329615 152329615 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014342.2 -1 provisional p.S216Y 0.184 238 0% 127 40.9% 0 - unknown(0) deleterious(0.03) - NULL CRNN 49860 genome.wustl.edu 37 1 152383181 152383181 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016190.2 -1 reviewed p.A126V 0.000 147 0% 62 35.5% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL KPRP 448834 genome.wustl.edu 37 1 152733045 152733045 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001025231.1 +1 provisional p.I327 0.024 59 0% 40 42.5% 0 - - - - NULL IVL 3713 genome.wustl.edu 37 1 152883038 152883038 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005547.2 +1 reviewed p.L255 0.000 53 0% 29 31% 0 - - - - HMMPfam_Involucrin SPRR2B 6701 genome.wustl.edu 37 1 153043276 153043276 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017418.1 -1 provisional p.P14S 0.972 332 0% 83 44.6% 0 - unknown(0) - - NULL ILF2 3608 genome.wustl.edu 37 1 153640118 153640118 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004515.2 -1 reviewed p.R103* 1.000 306 0% 272 45.2% 234 4.7% - - - HMMSmart_SM00572,superfamily_Nucleotidyltransferase ENSG00000234010 0 genome.wustl.edu 37 1 153896367 153896367 + RNA SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000413970 +1 known NULL 0.005 74 0% 132 44.7% 0 - - - - - NUP210L 91181 genome.wustl.edu 37 1 154090209 154090209 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207308.2 -1 validated p.E538* 1.000 129 0% 102 41.2% 0 - - - - superfamily_Invasin_intimin NUP210L 91181 genome.wustl.edu 37 1 154090287 154090287 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207308.2 -1 validated p.G512* 1.000 167 0% 119 47.1% 0 - - - - superfamily_Invasin_intimin IL6R 3570 genome.wustl.edu 37 1 154406993 154406993 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000565.2 +1 reviewed e4-2 0.040 63 0% 41 31.7% 0 - - - - - KCNN3 3782 genome.wustl.edu 37 1 154680718 154680718 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002249.4 -1 reviewed p.E644* 0.998 101 0% 48 54.2% 1 0% - - - NULL PBXIP1 57326 genome.wustl.edu 37 1 154923862 154923862 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020524.2 -1 provisional p.E85D 0.001 97 0% 81 44.4% 45 51.1% possibly_damaging(0.737) tolerated(0.55) neutral(0.277) NULL PYGO2 90780 genome.wustl.edu 37 1 154933477 154933477 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138300.3 -1 validated p.K43N 1.000 74 0% 127 43.3% 16 31.2% unknown(0) deleterious(0) - NULL ZBTB7B 51043 genome.wustl.edu 37 1 154988066 154988066 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015872.2 +1 validated p.I310 0.944 65 0% 18 50% 27 40.7% - - - NULL DCST2 127579 genome.wustl.edu 37 1 154995639 154995639 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144622.2 -1 validated p.E687* 0.005 63 0% 32 40.6% 1 0% - - - NULL ADAM15 8751 genome.wustl.edu 37 1 155026816 155026816 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207197.1 +1 reviewed p.R149I 1.000 63 0% 56 42.9% 51 56.8% probably_damaging(0.993) deleterious(0.05) deleterious(0.795) HMMPfam_Pep_M12B_propep MUC1 4582 genome.wustl.edu 37 1 155158646 155158646 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002456.4 -1 reviewed p.N263H 0.828 4 0.000 54 0.407 166 28.9% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL RUSC1-AS1 284618 genome.wustl.edu 37 1 155290652 155290652 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039517.1 -1 predicted p.R210C 0.937 58 0% 39 51.3% 0 - - - - NULL MSTO2P 100129405 genome.wustl.edu 37 1 155717588 155717588 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_024117.1 +1 provisional NULL 1.000 191 0% 119 40.3% 17 0% probably_damaging(1) deleterious(0) deleterious(0.945) - SYT11 23208 genome.wustl.edu 37 1 155851155 155851155 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152280.4 +1 reviewed p.F384 1.000 127 0% 79 41.8% 11 0% - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB HAPLN2 60484 genome.wustl.edu 37 1 156593692 156593692 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021817.2 +1 validated p.G60V 1.000 7 0.000 13 0.538 0 - benign(0.221) tolerated(0.49) neutral(0.033) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin NES 10763 genome.wustl.edu 37 1 156641506 156641506 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006617.1 -1 reviewed p.I825T 0.000 100 0% 322 38.8% 7 14.2% benign(0) tolerated(0.6) neutral(0.004) NULL NES 10763 genome.wustl.edu 37 1 156642067 156642067 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006617.1 -1 reviewed p.S638Y 0.090 37 0% 159 43.4% 8 12.5% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL CRABP2 1382 genome.wustl.edu 37 1 156675188 156675188 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001878.2 -1 reviewed p.E17D 1.000 183 0% 160 29.4% 83 51.8% benign(0.001) tolerated(1) - PatternScan_FABP,HMMPfam_Lipocalin,superfamily_Lipocalins PRCC 5546 genome.wustl.edu 37 1 156770248 156770248 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005973.4 +1 reviewed p.F491C 1.000 79 0% 38 57.9% 134 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PRCC_Cterm NTRK1 4914 genome.wustl.edu 37 1 156811908 156811908 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007792.1 +1 reviewed p.P15 0.805 298 0% 96 39.6% 0 - - - - NULL NTRK1 4914 genome.wustl.edu 37 1 156841419 156841419 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002529.3 +1 reviewed p.S241Y 0.995 123 0% 38 55.3% 0 - benign(0.214) tolerated(1) neutral(0.021) superfamily_Immunoglobulin PEAR1 375033 genome.wustl.edu 37 1 156876428 156876428 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080471.1 +1 provisional e5-1 0.908 68 0% 23 30.4% 0 - - - - - PEAR1 375033 genome.wustl.edu 37 1 156880115 156880115 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080471.1 +1 provisional p.P590T 0.003 54 0% 32 50% 1 0% possibly_damaging(0.607) deleterious(0.02) deleterious(0.594) HMMSmart_EGF,HMMPfam_EGF_2 PEAR1 375033 genome.wustl.edu 37 1 156883040 156883040 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080471.1 +1 provisional p.S826L 1.000 119 0% 85 42.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Grow_fac_recept ETV3 2117 genome.wustl.edu 37 1 157095426 157095426 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145312.1 -1 validated p.V249A 0.973 147 0% 76 46.1% 6 66.6% benign(0.317) deleterious(0) deleterious(0.543) NULL ETV3 2117 genome.wustl.edu 37 1 157095480 157095480 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145312.1 -1 validated p.L231R 1.000 131 0% 64 43.8% 11 36.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL FCRL5 83416 genome.wustl.edu 37 1 157488262 157488262 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031281.2 -1 validated p.V923 0.914 362 0% 424 44.8% 0 - - - - NULL FCRL5 83416 genome.wustl.edu 37 1 157497424 157497424 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031281.2 -1 validated p.I648T 0.000 232 0% 38 34.2% 0 - benign(0.124) tolerated(0.28) neutral(0.042) HMMSmart_SM00409,superfamily_Immunoglobulin FCRL4 83417 genome.wustl.edu 37 1 157556023 157556023 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031282.2 -1 reviewed p.Y357C 0.487 92 0% 19 42.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCRL3 115352 genome.wustl.edu 37 1 157667135 157667135 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052939.3 -1 reviewed p.T213 0.004 136 0% 38 36.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158057937 158057937 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018240.5 +1 validated p.N303 0.827 146 0% 69 30.4% 9 55.5% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158064536 158064536 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018240.5 +1 validated p.D634N 1.000 28 0.000 8 0.500 16 37.5% possibly_damaging(0.907) tolerated(0.18) neutral(0.416) NULL CD1B 910 genome.wustl.edu 37 1 158299764 158299764 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001764.2 -1 reviewed p.F162C 0.005 115 0% 59 45.8% 0 - benign(0.12) deleterious(0.02) neutral(0.393) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain CD1E 913 genome.wustl.edu 37 1 158326516 158326516 + Splice_Site SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030893.2 +1 reviewed e6-2 0.149 249 0% 232 48.3% 0 - - - - - OR10T2 128360 genome.wustl.edu 37 1 158369062 158369062 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004475.1 -1 provisional p.F65L 0.044 195 0% 35 42.9% 0 - possibly_damaging(0.946) tolerated(0.09) deleterious(0.686) HMMPfam_7tm_1,superfamily_SSF81321 OR6P1 128366 genome.wustl.edu 37 1 158532730 158532730 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000334632 -1 known p.I222S 0.013 177 0% 45 46.7% 0 - possibly_damaging(0.462) tolerated(0.07) deleterious(0.471) HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158584059 158584059 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003126.2 -1 reviewed p.F2276V 1.000 144 0% 37 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_EF-hand SPTA1 6708 genome.wustl.edu 37 1 158607858 158607858 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003126.2 -1 reviewed p.F1718L 1.000 197 0% 45 57.8% 0 - probably_damaging(0.991) tolerated(0.19) deleterious(0.493) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158626363 158626363 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003126.2 -1 reviewed p.N963 0.995 149 0% 88 60.2% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K3 391114 genome.wustl.edu 37 1 158687018 158687018 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005327.2 -1 validated p.M312I 0.860 241 0% 18 44.4% 0 - benign(0.014) tolerated(0.25) neutral(0.037) superfamily_SSF81321 PYHIN1 149628 genome.wustl.edu 37 1 158906768 158906768 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152501.3 +1 validated p.R23I 0.000 132 0% 83 41% 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) HMMPfam_PAAD_DAPIN PYHIN1 149628 genome.wustl.edu 37 1 158911858 158911858 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152501.3 +1 validated p.K224R 0.001 100 0% 49 49% 0 - probably_damaging(0.967) deleterious(0.02) deleterious(0.792) HMMPfam_HIN PYHIN1 149628 genome.wustl.edu 37 1 158911996 158911996 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152501.3 +1 validated p.I270S 0.000 50 0% 46 41.3% 0 - possibly_damaging(0.903) tolerated(0.08) deleterious(0.658) HMMPfam_HIN IFI16 3428 genome.wustl.edu 37 1 158988388 158988388 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005531.2 +1 reviewed p.L307I 0.001 131 0% 145 46.9% 5 0% benign(0.169) tolerated(0.24) neutral(0.053) HMMPfam_HIN AIM2 9447 genome.wustl.edu 37 1 159033453 159033453 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004833.1 -1 reviewed p.K276N 0.000 171 0% 123 51.2% 0 - benign(0.074) tolerated(0.46) neutral(0.017) HMMPfam_HIN CADM3 57863 genome.wustl.edu 37 1 159159663 159159663 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021189.3 +1 validated e2+1 1.000 109 0% 18 50% 0 - - - - - OR10J1 26476 genome.wustl.edu 37 1 159410400 159410400 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012351.2 +1 validated p.I284 0.100 148 0% 88 48.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10J5 127385 genome.wustl.edu 37 1 159505015 159505015 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004469.1 -1 provisional p.P261 0.975 124 0% 36 38.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CRP 1401 genome.wustl.edu 37 1 159683765 159683765 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000567.2 -1 reviewed p.K75N 0.002 302 0% 124 40.3% 0 - benign(0.047) tolerated(0.2) neutral(0.052) HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases ATP1A2 477 genome.wustl.edu 37 1 160090764 160090764 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000702.3 +1 reviewed p.E27D 0.998 297 0% 192 45.3% 52 42.3% benign(0) tolerated(0.44) neutral(0.013) NULL ATP1A2 477 genome.wustl.edu 37 1 160094101 160094101 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000702.3 +1 reviewed p.R171W 1.000 236 0% 128 50.8% 86 46.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 ATP1A2 477 genome.wustl.edu 37 1 160106385 160106385 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000702.3 +1 reviewed p.F863L 1.000 202 0% 73 47.9% 89 51.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Cation_ATPase_C,superfamily_SSF81665 ATP1A4 480 genome.wustl.edu 37 1 160147361 160147361 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144699.3 +1 reviewed p.E881D 0.998 524 0.2% 155 45.2% 2 0% benign(0.009) tolerated(0.12) neutral(0.261) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M CASQ1 844 genome.wustl.edu 37 1 160160706 160160706 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001231.4 +1 reviewed p.K49N 1.000 274 0% 101 40.6% 1 100% probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd DCAF8 50717 genome.wustl.edu 37 1 160209773 160209773 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015726.3 -1 reviewed p.A146V 0.987 98 0% 25 56% 28 32.1% benign(0.135) tolerated(0.27) neutral(0.045) superfamily_WD40 repeat-like PEX19 5824 genome.wustl.edu 37 1 160252819 160252819 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002857.3 -1 reviewed p.F87 0.550 174 0% 72 58.3% 37 40.5% - - - HMMPfam_Pex19 PEX19 5824 genome.wustl.edu 37 1 160253413 160253413 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002857.3 -1 reviewed p.F29 1.000 150 0% 99 57.6% 29 44.8% - - - NULL CD84 8832 genome.wustl.edu 37 1 160535325 160535325 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003874.3 -1 validated p.H86R 0.064 391 0% 88 31.8% 0 - benign(0.102) tolerated(0.5) neutral(0.018) HMMSmart_SM00409,superfamily_Immunoglobulin SLAMF1 6504 genome.wustl.edu 37 1 160589593 160589593 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003037.2 -1 validated p.T279 0.865 755 0.1% 214 42.5% 0 - - - - NULL CD48 962 genome.wustl.edu 37 1 160654867 160654867 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001778.2 -1 provisional p.K65N 0.991 267 0.4% 120 39.2% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,superfamily_Immunoglobulin LY9 4063 genome.wustl.edu 37 1 160769829 160769829 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002348.2 +1 validated p.N137K 0.000 69 0% 62 40.3% 1 0% probably_damaging(0.953) tolerated(0.06) deleterious(0.719) HMMSmart_SM00409,superfamily_Immunoglobulin ARHGAP30 257106 genome.wustl.edu 37 1 161022457 161022457 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001025598.1 -1 validated p.Q265H 1.000 34 0% 71 35.2% 2 0% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL PFDN2 5202 genome.wustl.edu 37 1 161070570 161070570 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012394.3 -1 reviewed p.N123S 1.000 486 0% 221 44.8% 298 48.9% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_Prefoldin_2,superfamily_Prefoldin DEDD 9191 genome.wustl.edu 37 1 161093967 161093967 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039711.1 -1 reviewed p.D96N 1.000 225 0% 62 48.4% 37 48.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain B4GALT3 8703 genome.wustl.edu 37 1 161141606 161141606 + Nonstop_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003779.2 -1 reviewed p.*394W 0.999 84 0% 47 44.7% 42 47.6% - - - NULL FCER1G 2207 genome.wustl.edu 37 1 161188718 161188718 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004106.1 +1 reviewed p.E82D 1.000 317 0% 137 46% 64 0% benign(0.146) tolerated(0.37) neutral(0.032) HMMPfam_ITAM,HMMSmart_ITAM HSPA6 3310 genome.wustl.edu 37 1 161496144 161496144 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002155.3 +1 validated p.E566K 0.974 98 0% 69 39.1% 10 20% benign(0.334) deleterious(0.01) deleterious(0.511) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain DDR2 4921 genome.wustl.edu 37 1 162740099 162740099 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014796.1 +1 reviewed p.R434L 1.000 244 0% 36 63.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DDR2 4921 genome.wustl.edu 37 1 162741963 162741963 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014796.1 +1 reviewed p.D552Y 1.000 120 0% 15 80% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) superfamily_Kinase_like DDR2 4921 genome.wustl.edu 37 1 162743304 162743304 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014796.1 +1 reviewed p.D592Y 1.000 193 0% 43 39.5% 3 0% possibly_damaging(0.628) deleterious(0.01) deleterious(0.625) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like UCK2 7371 genome.wustl.edu 37 1 165876938 165876938 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012474.3 +1 reviewed p.V222M 1.000 164 0% 48 35.4% 55 45.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases MAEL 84944 genome.wustl.edu 37 1 166959016 166959016 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032858.1 +1 validated p.R59* 1.000 10 0% 17 35.3% 0 - - - - superfamily_HMG-box,HMMPfam_DUF1898 MAEL 84944 genome.wustl.edu 37 1 166974600 166974600 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032858.1 +1 validated p.D271N 1.000 137 0% 56 44.6% 0 - possibly_damaging(0.52) tolerated(0.43) neutral(0.189) NULL MAEL 84944 genome.wustl.edu 37 1 166987080 166987080 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032858.1 +1 validated p.S309A 1.000 244 0% 33 39.4% 0 - possibly_damaging(0.505) tolerated(0.44) neutral(0.182) NULL MAEL 84944 genome.wustl.edu 37 1 166990995 166990995 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032858.1 +1 validated p.S403Y 0.936 148 0% 48 52.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL GPA33 10223 genome.wustl.edu 37 1 167042654 167042654 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005814.1 -1 reviewed p.I56L 0.032 291 0% 80 53.7% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin DUSP27 92235 genome.wustl.edu 37 1 167097069 167097069 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080426.1 +1 provisional p.R901C 0.980 234 0% 88 39.8% 0 - probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL CD247 919 genome.wustl.edu 37 1 167400953 167400953 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198053.2 -1 reviewed p.D154N 0.889 253 0.4% 96 45.8% 6 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_ITAM,HMMSmart_SM00077 CD247 919 genome.wustl.edu 37 1 167408615 167408615 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198053.2 -1 reviewed p.P62H 0.008 102 0% 30 56.7% 4 0% possibly_damaging(0.491) tolerated(0.07) deleterious(0.483) NULL ADCY10 55811 genome.wustl.edu 37 1 167830132 167830132 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018417.4 -1 reviewed p.L596I 0.712 626 0% 236 44.9% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ADCY10 55811 genome.wustl.edu 37 1 167839608 167839608 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018417.4 -1 reviewed p.K501N 0.997 194 0% 173 41% 0 - probably_damaging(0.962) tolerated(0.16) neutral(0.465) NULL ADCY10 55811 genome.wustl.edu 37 1 167847723 167847723 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018417.4 -1 reviewed p.S456Y 0.770 240 0% 124 38.7% 0 - possibly_damaging(0.819) deleterious(0.04) deleterious(0.658) superfamily_Adenylyl and guanylyl cyclase catalytic domain ADCY10 55811 genome.wustl.edu 37 1 167874304 167874304 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018417.4 -1 reviewed p.V25 1.000 302 0% 190 42.1% 0 - - - - NULL DCAF6 55827 genome.wustl.edu 37 1 167956832 167956832 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018442.2 +1 validated p.E180* 1.000 97 0% 108 38.9% 5 0% - - - superfamily_WD40_like DCAF6 55827 genome.wustl.edu 37 1 168032914 168032914 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018442.2 +1 validated p.E715* 1.000 73 0% 89 43.8% 12 16.6% - - - HMMSmart_IQ,superfamily_WD40_like C1orf114 57821 genome.wustl.edu 37 1 169366610 169366610 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021179.1 -1 predicted p.Q411R 0.999 449 0% 214 49.1% 0 - probably_damaging(0.991) tolerated(0.12) deleterious(0.705) NULL C1orf114 57821 genome.wustl.edu 37 1 169388305 169388305 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021179.1 -1 predicted p.V387 0.000 818 0% 240 43.3% 0 - - - - NULL C1orf114 57821 genome.wustl.edu 37 1 169390981 169390981 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021179.1 -1 predicted p.L230V 0.997 259 0% 88 14.8% 0 - possibly_damaging(0.94) tolerated(0.19) neutral(0.434) NULL SLC19A2 10560 genome.wustl.edu 37 1 169439269 169439269 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006996.2 -1 reviewed p.E321D 0.988 184 0% 28 53.6% 5 40% benign(0.13) tolerated(0.51) neutral(0.020) HMMPfam_Folate_carrier,superfamily_MFS general substrate transporter SLC19A2 10560 genome.wustl.edu 37 1 169446715 169446715 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006996.2 -1 reviewed p.R162Q 1.000 100 0% 44 36.4% 8 37.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Folate_carrier,superfamily_MFS general substrate transporter F5 2153 genome.wustl.edu 37 1 169484728 169484728 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000130.4 -1 reviewed p.G2161E 0.996 191 0% 33 39.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like F5 2153 genome.wustl.edu 37 1 169505766 169505766 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000130.4 -1 reviewed p.A1650D 1.000 101 0% 24 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169511451 169511451 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000130.4 -1 reviewed p.I959 0.147 270 0% 58 46.6% 0 - - - - NULL C1orf112 55732 genome.wustl.edu 37 1 169775154 169775154 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018186.2 +1 predicted p.S163Y 0.981 267 0% 241 36.9% 1 0% probably_damaging(0.976) tolerated(0.34) neutral(0.441) NULL C1orf112 55732 genome.wustl.edu 37 1 169821982 169821982 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018186.2 +1 predicted p.S806P 0.265 87 0% 26 38.5% 24 58.3% probably_damaging(0.996) tolerated(0.26) deleterious(0.496) NULL KIFAP3 22920 genome.wustl.edu 37 1 169951174 169951174 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014970.2 -1 reviewed p.D579 1.000 132 0% 35 51.4% 28 42.8% - - - HMMSmart_SM00185,HMMPfam_KAP,superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 169993693 169993693 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014970.2 -1 reviewed p.E296K 1.000 92 0% 46 50% 23 60.8% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_KAP,superfamily_ARM repeat C1orf129 80133 genome.wustl.edu 37 1 170928649 170928649 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025063.2 +1 validated p.E67* 0.004 374 0% 172 44.2% 0 - - - - NULL C1orf129 80133 genome.wustl.edu 37 1 170965777 170965777 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025063.2 +1 validated p.F489L 0.003 330 0% 44 47.7% 0 - benign(0) tolerated(0.82) neutral(0.001) NULL LOC646804 646804 genome.wustl.edu 37 1 171052904 171052904 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_929761.3 +1 model p.L91* 0.235 102 0% 106 43.4% 0 - - - - PatternScan_RIBOSOMAL_L23 LOC646804 646804 genome.wustl.edu 37 1 171053032 171053032 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_929761.3 +1 model p.L134I 0.968 71 0% 104 41.3% 0 - - - - NULL FMO3 2328 genome.wustl.edu 37 1 171083297 171083297 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002294.2 +1 reviewed p.I326 0.979 488 0% 72 38.9% 0 - - - - HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain FMO4 2329 genome.wustl.edu 37 1 171292269 171292269 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002022.1 +1 reviewed p.F87V 0.344 187 0% 53 47.2% 2 100% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain PRRC2C 23215 genome.wustl.edu 37 1 171482169 171482169 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015172.3 +1 validated p.V48I 1.000 320 0% 69 44.9% 10 40% unknown(0) - - HMMPfam_BAT2_N PRRC2C 23215 genome.wustl.edu 37 1 171510044 171510044 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015172.3 +1 validated p.D1145Y 0.994 98 0% 103 41.7% 20 35% unknown(0) - - NULL VAMP4 8674 genome.wustl.edu 37 1 171688330 171688330 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003762.4 -1 reviewed p.R49 0.983 135 0% 52 38.5% 2 0% - - - HMMPfam_Synaptobrevin C1orf9 51430 genome.wustl.edu 37 1 172522427 172522427 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014283.3 +1 validated p.E69K 0.014 94 0% 70 10% 3 0% benign(0) tolerated(0.66) neutral(0.003) NULL FASLG 356 genome.wustl.edu 37 1 172634960 172634960 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000639.1 +1 reviewed p.K217T 0.091 435 0% 82 41.5% 0 - benign(0.03) tolerated(0.42) neutral(0.015) HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like TNFSF4 7292 genome.wustl.edu 37 1 173155702 173155702 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003326.3 -1 reviewed p.E169* 0.884 70 0% 25 24% 2 0% - - - HMMPfam_TNF,HMMSmart_SM00207 TNFSF4 7292 genome.wustl.edu 37 1 173155916 173155916 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003326.3 -1 reviewed p.C97 0.997 198 0% 48 35.4% 1 0% - - - HMMPfam_TNF,HMMSmart_SM00207,PatternScan_TNF_1,superfamily_TNF-like SLC9A11 284525 genome.wustl.edu 37 1 173570908 173570908 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178527.3 -1 validated p.S3Y 0.000 267 0% 82 48.8% 0 - possibly_damaging(0.922) - - NULL DARS2 55157 genome.wustl.edu 37 1 173797501 173797501 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018122.4 +1 reviewed p.F86 1.000 140 0% 380 43.2% 16 37.5% - - - HMMPfam_tRNA_anti,superfamily_Nucleic_acid_OB RABGAP1L 9910 genome.wustl.edu 37 1 174363157 174363157 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014857.3 +1 validated p.P528 0.102 247 0% 24 54.2% 2 0% - - - superfamily_Ypt/Rab-GAP domain of gyp1p PAPPA2 60676 genome.wustl.edu 37 1 176525494 176525494 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020318.2 +1 validated p.A12 0.998 150 0% 41 26.8% 0 - - - - NULL PAPPA2 60676 genome.wustl.edu 37 1 176668602 176668602 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020318.2 +1 validated p.S1038Y 1.000 234 0% 28 46.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RASAL2 9462 genome.wustl.edu 37 1 178412006 178412006 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170692.2 +1 reviewed p.I357S 1.000 149 0% 49 16.3% 2 50% possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB RASAL2 9462 genome.wustl.edu 37 1 178420747 178420747 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170692.2 +1 reviewed p.E539* 1.000 355 0% 72 11.1% 3 0% - - - HMMPfam_RasGAP,HMMSmart_RasGAP,superfamily_Rho_GAP RASAL2 9462 genome.wustl.edu 37 1 178427461 178427461 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000433130 +1 known p.P421Q 1.000 87 0% 34 50% 3 66.6% - - - NULL C1orf49 84066 genome.wustl.edu 37 1 178485749 178485749 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032126.4 +1 validated e5-1 1.000 266 0% 187 46% 0 - - - - - C1orf49 84066 genome.wustl.edu 37 1 178490028 178490028 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000367641 +1 known p.E188K 0.000 75 1.3% 36 44.4% 0 - benign(0.002) - - NULL RALGPS2 55103 genome.wustl.edu 37 1 178854384 178854384 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000415888 +1 known p.S97Y 0.000 39 0% 48 52.1% 0 - unknown(0) - - NULL ABL2 27 genome.wustl.edu 37 1 179078423 179078423 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007314.3 -1 reviewed p.R660I 1.000 155 0% 129 45% 3 0% benign(0.349) deleterious(0) deleterious(0.555) NULL AXDND1 126859 genome.wustl.edu 37 1 179337961 179337961 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144696.4 +1 validated p.N42H 0.002 63 0% 87 43.7% 0 - benign(0.157) tolerated(0.27) neutral(0.048) NULL AXDND1 126859 genome.wustl.edu 37 1 179347791 179347791 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144696.4 +1 validated p.D132N 1.000 125 0% 89 41.6% 0 - unknown(0) deleterious(0.01) - NULL AXDND1 126859 genome.wustl.edu 37 1 179348601 179348601 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144696.4 +1 validated p.L189V 1.000 268 0% 284 42.6% 0 - unknown(0) deleterious(0.02) - NULL AXDND1 126859 genome.wustl.edu 37 1 179503895 179503895 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144696.4 +1 validated p.E943D 1.000 95 0% 49 46.9% 0 - possibly_damaging(0.945) tolerated(0.64) neutral(0.393) NULL NPHS2 7827 genome.wustl.edu 37 1 179520461 179520461 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014625.2 -1 reviewed p.E333 0.994 98 0% 19 47.4% 0 - - - - NULL CEP350 9857 genome.wustl.edu 37 1 180061865 180061865 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014810.4 +1 reviewed p.L2209F 0.014 109 0% 109 56.9% 4 25% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL XPR1 9213 genome.wustl.edu 37 1 180849286 180849286 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004736.3 +1 validated p.D628G 1.000 185 0% 76 47.4% 25 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MR1 3140 genome.wustl.edu 37 1 181022716 181022716 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001531.1 +1 provisional p.E296 0.000 302 0% 205 38.5% 11 54.5% - - - superfamily_Immunoglobulin CACNA1E 777 genome.wustl.edu 37 1 181701631 181701631 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000721.2 +1 reviewed p.P803 0.001 161 0% 34 47.1% 0 - - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181731770 181731770 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000721.2 +1 reviewed p.E1556* 1.000 231 0% 98 16.3% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181731789 181731789 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000721.2 +1 reviewed p.S1562N 1.000 204 0% 91 50.5% 1 100% benign(0.048) tolerated(0.5) neutral(0.013) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181767657 181767657 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000721.2 +1 reviewed p.S2167Y 0.969 55 0% 37 51.4% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL ZNF648 127665 genome.wustl.edu 37 1 182026148 182026148 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009992.1 -1 provisional p.K333R 1.000 191 0% 40 40% 0 - probably_damaging(0.991) tolerated(0.11) deleterious(0.716) superfamily_SSF57667 RGSL1 353299 genome.wustl.edu 37 1 182457447 182457447 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137669.1 +1 validated p.L487I 0.998 352 0% 199 48.7% 0 - - - - superfamily_Regulator of G-protein signaling RGS RGSL1 353299 genome.wustl.edu 37 1 182491217 182491217 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137669.1 +1 validated p.L635R 0.000 72 0% 55 49.1% 0 - - - - superfamily_Regulator of G-protein signaling RGS RNASEL 6041 genome.wustl.edu 37 1 182554463 182554463 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021133.2 -1 reviewed p.I493 1.000 262 0% 103 17.5% 1 0% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) LAMC2 3918 genome.wustl.edu 37 1 183190057 183190057 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005562.2 +1 reviewed p.E201* 0.077 96 0% 73 46.6% 10 0% - - - NULL LAMC2 3918 genome.wustl.edu 37 1 183194835 183194835 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005562.2 +1 reviewed p.R349Q 1.000 82 0% 55 54.5% 11 18.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Laminin_B,HMMSmart_SM00281 LAMC2 3918 genome.wustl.edu 37 1 183197685 183197685 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005562.2 +1 reviewed p.Y549D 0.080 167 0% 50 40% 7 0% possibly_damaging(0.667) deleterious(0.03) deleterious(0.601) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin RGL1 23179 genome.wustl.edu 37 1 183711345 183711345 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015149.3 +1 validated p.L18R 0.988 279 0% 43 37.2% 1 0% benign(0.422) deleterious(0) deleterious(0.582) NULL GLT25D2 23127 genome.wustl.edu 37 1 183938571 183938571 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015101.2 -1 validated p.R222* 0.749 103 0% 45 33.3% 0 - - - - NULL FAM129A 116496 genome.wustl.edu 37 1 184764766 184764766 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052966.2 -1 validated p.A711V 0.896 218 0.5% 75 38.7% 9 44.4% benign(0.003) tolerated(0.09) neutral(0.296) NULL FAM129A 116496 genome.wustl.edu 37 1 184765073 184765073 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052966.2 -1 validated p.L609M 0.000 86 0% 56 41.1% 13 38.4% benign(0.267) tolerated(0.22) neutral(0.070) NULL FAM129A 116496 genome.wustl.edu 37 1 184800984 184800984 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052966.2 -1 validated p.I238 0.999 190 0% 88 37.5% 3 100% - - - NULL TRMT1L 81627 genome.wustl.edu 37 1 185089291 185089291 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030934.4 -1 reviewed p.L688I 1.000 143 0% 56 57.1% 11 36.3% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_TRM TRMT1L 81627 genome.wustl.edu 37 1 185093036 185093036 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030934.4 -1 reviewed p.F592C 0.348 152 0% 132 43.2% 15 46.6% benign(0) deleterious(0.01) neutral(0.406) HMMPfam_TRM,superfamily_S-adenosyl-L-methionine-dependent methyltransferases SWT1 54823 genome.wustl.edu 37 1 185173960 185173960 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105518.1 +1 validated p.E600* 1.000 91 0% 96 49% 1 0% - - - NULL IVNS1ABP 10625 genome.wustl.edu 37 1 185270588 185270588 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006469.4 -1 validated p.I291 1.000 408 0% 73 53.4% 120 50% - - - NULL HMCN1 83872 genome.wustl.edu 37 1 185902937 185902937 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031935.2 +1 reviewed p.S603 0.017 66 0% 22 59.1% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185956624 185956624 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031935.2 +1 reviewed p.T999N 0.295 134 0.7% 47 40.4% 2 50% benign(0.273) tolerated(0.08) neutral(0.329) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186039797 186039797 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031935.2 +1 reviewed p.E2683* 1.000 154 0% 29 44.8% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186083141 186083141 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031935.2 +1 reviewed p.S3721I 0.995 80 0% 50 40% 0 - possibly_damaging(0.832) tolerated(0.18) neutral(0.373) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186086602 186086602 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031935.2 +1 reviewed p.I3899V 1.000 131 0% 36 33.3% 1 0% benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186122987 186122987 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031935.2 +1 reviewed p.T5042A 1.000 164 0% 54 38.9% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like PRG4 10216 genome.wustl.edu 37 1 186276792 186276792 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005807.3 +1 reviewed p.E647 0.000 14 0% 89 44.9% 0 - - - - NULL PRG4 10216 genome.wustl.edu 37 1 186277301 186277301 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005807.3 +1 reviewed p.K817T 0.002 94 0% 243 42% 0 - unknown(0) tolerated(0.21) - NULL TPR 7175 genome.wustl.edu 37 1 186315345 186315345 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003292.2 -1 reviewed p.K1006N 1.000 345 0% 331 45% 16 68.7% probably_damaging(0.982) tolerated(0.05) deleterious(0.772) superfamily_Prefoldin TPR 7175 genome.wustl.edu 37 1 186331979 186331979 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003292.2 -1 reviewed p.K229T 1.000 94 0% 85 51.8% 9 77.7% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL PTGS2 5743 genome.wustl.edu 37 1 186643805 186643805 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000963.2 -1 reviewed p.R499W 0.982 157 0.6% 57 45.6% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PLA2G4A 5321 genome.wustl.edu 37 1 186915853 186915853 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024420.2 +1 reviewed p.F373C 1.000 315 0% 72 56.9% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like PLA2G4A 5321 genome.wustl.edu 37 1 186948476 186948476 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024420.2 +1 reviewed p.E664* 1.000 271 0% 174 44.8% 14 7.1% - - - HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like UCHL5 51377 genome.wustl.edu 37 1 192993052 192993052 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000420791 -1 known p.L109S 1.000 137 0% 50 54% 45 60% - - - superfamily_Cysteine proteinases TROVE2 6738 genome.wustl.edu 37 1 193046073 193046073 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004600.5 +1 validated p.A327T 1.000 121 0% 111 11.7% 15 6.6% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_TROVE CDC73 79577 genome.wustl.edu 37 1 193116996 193116996 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024529.4 +1 reviewed e8-1 1.000 51 0% 32 43.8% 0 - - - - - B3GALT2 8707 genome.wustl.edu 37 1 193150200 193150200 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003783.3 -1 reviewed p.E165* 1.000 204 0% 136 41.9% 0 - - - - HMMPfam_Galactosyl_T B3GALT2 8707 genome.wustl.edu 37 1 193150683 193150683 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003783.3 -1 reviewed p.W4R 1.000 68 0% 24 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KCNT2 343450 genome.wustl.edu 37 1 196397313 196397313 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198503.2 -1 validated p.V302 1.000 174 0% 25 48% 0 - - - - superfamily_Voltage-gated potassium channels CFH 3075 genome.wustl.edu 37 1 196648828 196648828 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000186.3 +1 reviewed p.R232Q 0.967 146 0% 29 34.5% 6 33.3% probably_damaging(0.974) tolerated(0.2) neutral(0.465) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFH 3075 genome.wustl.edu 37 1 196694262 196694262 + Missense_Mutation SNP G G A rs76405615 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000186.3 +1 reviewed p.E570K 0.002 70 0% 23 43.5% 9 0% benign(0) tolerated(0.99) - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFH 3075 genome.wustl.edu 37 1 196712669 196712669 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000186.3 +1 reviewed p.R1074H 0.409 532 0.2% 306 38.9% 13 0% benign(0.014) tolerated(0.24) neutral(0.038) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFHR3 10878 genome.wustl.edu 37 1 196757424 196757424 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021023.5 +1 reviewed p.E170G 0.000 40 0% 61 55.7% 0 - benign(0.002) tolerated(0.2) neutral(0.049) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR4 10877 genome.wustl.edu 37 1 196871648 196871648 + Silent SNP C C A rs78951215 byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006684.2 +1 validated p.S53 0.004 149 0% 85 38.8% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197024886 197024886 + Missense_Mutation SNP C C T rs192220037 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001994.2 -1 reviewed p.R438H 0.000 163 0.6% 19 36.8% 0 - benign(0.001) tolerated(0.54) neutral(0.007) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197026500 197026500 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001994.2 -1 reviewed p.E301* 0.978 442 0% 59 52.5% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197030959 197030959 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001994.2 -1 reviewed p.L136I 1.000 181 0% 40 37.5% 0 - probably_damaging(0.996) tolerated(0.1) deleterious(0.748) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197060155 197060155 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018136.4 -1 reviewed p.R3154I 0.972 131 0% 32 43.8% 21 38% possibly_damaging(0.757) tolerated(0.24) neutral(0.317) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197061113 197061113 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018136.4 -1 reviewed p.R3123I 0.851 168 0% 33 42.4% 20 40% possibly_damaging(0.946) tolerated(0.07) deleterious(0.709) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197069914 197069914 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018136.4 -1 reviewed p.K2823Q 0.035 50 0% 11 54.5% 19 47.3% benign(0.245) tolerated(0.28) neutral(0.057) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197072778 197072778 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018136.4 -1 reviewed p.R1868I 0.345 92 0% 20 35% 4 25% probably_damaging(0.976) deleterious(0.02) deleterious(0.801) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197098325 197098325 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018136.4 -1 reviewed p.E918K 1.000 134 0% 132 41.7% 5 40% benign(0.227) tolerated(0.16) neutral(0.082) superfamily_Calponin-homology domain CH-domain ASPM 259266 genome.wustl.edu 37 1 197099174 197099174 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018136.4 -1 reviewed p.E834K 1.000 172 0% 74 43.2% 3 33.3% probably_damaging(1) tolerated(0.1) deleterious(0.786) superfamily_Calponin-homology domain CH-domain ASPM 259266 genome.wustl.edu 37 1 197101428 197101428 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018136.4 -1 reviewed p.R825Q 1.000 63 0% 52 53.8% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Calponin-homology domain CH-domain ASPM 259266 genome.wustl.edu 37 1 197104301 197104301 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018136.4 -1 reviewed p.E700K 1.000 122 0% 93 55.9% 1 100% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL ASPM 259266 genome.wustl.edu 37 1 197108954 197108954 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018136.4 -1 reviewed p.K657Q 0.019 316 0% 373 47.5% 6 33.3% benign(0.045) tolerated(0.27) neutral(0.036) NULL ZBTB41 360023 genome.wustl.edu 37 1 197141301 197141301 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194314.2 -1 validated p.R688Q 1.000 41 0% 16 50% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZBTB41 360023 genome.wustl.edu 37 1 197145768 197145768 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194314.2 -1 validated p.R602I 1.000 258 0% 43 46.5% 2 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_C2H2 and C2HC zinc fingers ZBTB41 360023 genome.wustl.edu 37 1 197168757 197168757 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194314.2 -1 validated p.E283* 0.175 197 0% 158 45.6% 1 100% - - - NULL CRB1 23418 genome.wustl.edu 37 1 197390891 197390891 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201253.1 +1 reviewed p.D645Y 1.000 135 0% 47 46.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CRB1 23418 genome.wustl.edu 37 1 197398735 197398735 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201253.1 +1 reviewed p.G945* 1.000 125 0% 41 46.3% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin CRB1 23418 genome.wustl.edu 37 1 197403907 197403907 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201253.1 +1 reviewed p.E972* 1.000 82 0% 35 51.4% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases DENND1B 163486 genome.wustl.edu 37 1 197641221 197641221 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142795.1 -1 validated p.R81I 1.000 177 0% 40 37.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_uDENN,HMMSmart_SM00800 NEK7 140609 genome.wustl.edu 37 1 198231750 198231750 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133494.2 +1 validated p.E82* 1.000 213 0% 56 44.6% 4 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PTPRC 5788 genome.wustl.edu 37 1 198678923 198678923 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002838.3 +1 reviewed p.A379T 0.000 115 0% 64 42.2% 2 0% benign(0) tolerated(0.56) neutral(0.006) NULL PTPRC 5788 genome.wustl.edu 37 1 198721736 198721736 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002838.3 +1 reviewed p.R1113Q 0.292 138 0% 13 61.5% 7 0% possibly_damaging(0.881) tolerated(0.36) neutral(0.364) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRC 5788 genome.wustl.edu 37 1 198723480 198723480 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002838.3 +1 reviewed p.F1196V 1.000 260 0% 39 51.3% 8 0% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II KIF14 9928 genome.wustl.edu 37 1 200534238 200534238 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014875.2 -1 validated p.E1344K 0.646 65 0% 83 44.6% 5 20% possibly_damaging(0.907) deleterious(0) deleterious(0.805) NULL KIF14 9928 genome.wustl.edu 37 1 200587830 200587830 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014875.2 -1 validated p.N8H 0.000 75 0% 123 12.2% 1 0% benign(0.284) deleterious(0) deleterious(0.531) NULL DDX59 83479 genome.wustl.edu 37 1 200635845 200635845 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031725.4 -1 validated p.K8N 1.000 241 0% 182 44% 9 66.6% possibly_damaging(0.766) deleterious(0.02) deleterious(0.667) NULL CAMSAP2 23271 genome.wustl.edu 37 1 200817780 200817780 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203459.1 +1 validated p.S628L 0.998 139 0% 69 58% 12 58.3% possibly_damaging(0.871) tolerated(0.36) neutral(0.359) NULL KIF21B 23046 genome.wustl.edu 37 1 200944036 200944036 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017596.2 -1 provisional p.I1527 1.000 257 0% 60 38.3% 2 0% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CACNA1S 779 genome.wustl.edu 37 1 201044714 201044714 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000069.2 -1 reviewed p.M619I 0.731 209 0% 56 10.7% 0 - benign(0) tolerated(0.22) neutral(0.042) HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201057036 201057036 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000069.2 -1 reviewed p.E308K 1.000 200 0% 128 46.1% 0 - benign(0.01) tolerated(0.31) neutral(0.028) HMMPfam_Ion_trans,superfamily_SSF81324 PKP1 5317 genome.wustl.edu 37 1 201287840 201287840 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000299.2 +1 reviewed p.F383L 1.000 176 0% 35 42.9% 0 - probably_damaging(0.996) tolerated(0.29) deleterious(0.491) superfamily_ARM repeat TNNT2 7139 genome.wustl.edu 37 1 201336908 201336908 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000364.2 -1 reviewed p.E64* 0.957 563 0% 586 44.9% 0 - - - - NULL NAV1 89796 genome.wustl.edu 37 1 201759832 201759832 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020443.4 +1 reviewed p.R1087C 1.000 408 0% 210 45.2% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LMOD1 25802 genome.wustl.edu 37 1 201869334 201869334 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012134.2 -1 reviewed p.E269D 0.000 598 0% 280 46.8% 3 0% benign(0.19) tolerated(0.46) neutral(0.030) HMMPfam_Tropomodulin LMOD1 25802 genome.wustl.edu 37 1 201915236 201915236 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012134.2 -1 reviewed p.K78T 0.991 113 0% 71 36.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Tropomodulin PPP1R12B 4660 genome.wustl.edu 37 1 202464699 202464699 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032105.2 +1 reviewed p.E779D 0.305 152 0% 48 45.8% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL PPP1R12B 4660 genome.wustl.edu 37 1 202532039 202532039 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032105.2 +1 reviewed p.D881Y 1.000 29 0% 15 33.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CHIT1 1118 genome.wustl.edu 37 1 203194802 203194802 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003465.2 -1 reviewed p.K84N 0.928 262 0% 102 42.2% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases RBBP5 5929 genome.wustl.edu 37 1 205069347 205069347 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005057.2 -1 reviewed p.E229* 1.000 242 0% 129 34.9% 9 11.1% - - - superfamily_WD40 repeat-like NUAK2 81788 genome.wustl.edu 37 1 205277343 205277343 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030952.1 -1 provisional p.R174* 1.000 98 0% 84 46.4% 30 30% - - - HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase SLC41A1 254428 genome.wustl.edu 37 1 205767101 205767101 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173854.4 -1 validated p.R308Q 1.000 89 0% 25 44% 19 36.8% benign(0.026) tolerated(0.32) neutral(0.025) NULL PM20D1 148811 genome.wustl.edu 37 1 205799469 205799469 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152491.4 -1 validated p.N442Y 0.968 564 0% 249 39.8% 0 - probably_damaging(0.953) deleterious(0.03) deleterious(0.761) HMMPfam_Peptidase_M20,superfamily_Zn-dependent exopeptidases SLC26A9 115019 genome.wustl.edu 37 1 205884310 205884310 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_134325.2 -1 reviewed p.E792K 0.010 81 0% 62 50% 2 50% benign(0) tolerated(0.09) neutral(0.296) NULL CTSE 1510 genome.wustl.edu 37 1 206318410 206318410 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001910.2 +1 reviewed p.F56L 0.354 104 0% 40 55% 0 - benign(0) tolerated(0.23) neutral(0.042) superfamily_Pept_Aspartic RASSF5 83593 genome.wustl.edu 37 1 206760161 206760161 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182663.2 +1 reviewed p.D370N 1.000 255 0% 136 49.3% 1 0% benign(0.29) tolerated(0.11) neutral(0.361) NULL IL19 29949 genome.wustl.edu 37 1 207010134 207010134 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153758.1 +1 reviewed p.E81* 0.074 264 0% 151 45.7% 0 - - - - superfamily_4_helix_cytokine,HMMPfam_IL10,HMMSmart_IL10 PIGR 5284 genome.wustl.edu 37 1 207105051 207105051 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002644.3 -1 reviewed p.S702L 0.006 339 0% 185 40% 0 - benign(0.002) tolerated(0.31) neutral(0.027) NULL PIGR 5284 genome.wustl.edu 37 1 207105098 207105098 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002644.3 -1 reviewed p.F686 0.004 286 0.3% 164 45.7% 0 - - - - NULL C1orf116 79098 genome.wustl.edu 37 1 207198394 207198394 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023938.5 -1 validated p.D41N 1.000 92 0% 33 51.5% 2 50% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL PFKFB2 5208 genome.wustl.edu 37 1 207245637 207245637 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006212.2 +1 reviewed p.R480I 1.000 104 0% 59 44.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C4BPA 722 genome.wustl.edu 37 1 207314502 207314502 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000715.3 +1 reviewed p.S442* 0.000 248 0% 113 44.2% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain C4BPA 722 genome.wustl.edu 37 1 207314519 207314519 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000715.3 +1 reviewed p.E448* 0.000 224 0% 90 47.8% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CD55 1604 genome.wustl.edu 37 1 207497932 207497932 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114752.1 +1 reviewed p.N105 0.000 118 0% 74 51.4% 17 29.4% - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CD55 1604 genome.wustl.edu 37 1 207500107 207500107 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114752.1 +1 reviewed p.F197V 0.002 576 0% 283 44.2% 24 29.1% benign(0) tolerated(0.77) neutral(0.001) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR2 1380 genome.wustl.edu 37 1 207640078 207640078 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001006658.2 +1 reviewed p.S89Y 0.001 102 0% 62 45.2% 0 - probably_damaging(0.995) tolerated(0.08) deleterious(0.758) superfamily_Complement_control_module CR1 1378 genome.wustl.edu 37 1 207737528 207737528 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000651.4 +1 reviewed p.F1272C 0.003 647 0% 320 35% 0 - probably_damaging(0.992) tolerated(0.18) deleterious(0.504) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207755271 207755271 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000651.4 +1 reviewed p.L1742S 0.901 427 0.2% 143 38.5% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207760774 207760774 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000651.4 +1 reviewed p.T1858 0.000 434 0% 127 36.2% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207785143 207785143 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000651.4 +1 reviewed p.A2139 0.000 209 0% 98 49% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain LOC642587 642587 genome.wustl.edu 37 1 209605600 209605600 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001104548.1 +1 validated p.S72L 0.005 68 0% 23 43.5% 7 14.2% - - - NULL LAMB3 3914 genome.wustl.edu 37 1 209789827 209789827 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000228.2 -1 reviewed p.D1124A 1.000 294 0% 142 50.7% 116 50% benign(0.047) deleterious(0) neutral(0.448) NULL HSD11B1 3290 genome.wustl.edu 37 1 209880338 209880338 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005525.2 +1 reviewed p.L128I 0.000 286 0% 48 45.8% 2 0% benign(0) tolerated(0.24) neutral(0.037) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains IRF6 3664 genome.wustl.edu 37 1 209969815 209969815 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006147.2 -1 reviewed p.A86V 1.000 213 0% 55 36.4% 44 56.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IRF,HMMSmart_IRF,superfamily_SSF46785 DIEXF 27042 genome.wustl.edu 37 1 210004186 210004186 + Silent SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014388.5 +1 validated p.S62 0.998 86 0% 88 47.7% 7 57.1% - - - NULL SYT14 255928 genome.wustl.edu 37 1 210187097 210187097 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153262.2 +1 validated p.L61I 1.000 145 0% 167 44.3% 0 - benign(0.244) deleterious(0.02) neutral(0.408) NULL SYT14 255928 genome.wustl.edu 37 1 210334310 210334310 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153262.2 +1 validated p.E531* 1.000 183 0% 79 53.2% 0 - - - - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SERTAD4 56256 genome.wustl.edu 37 1 210415035 210415035 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019605.3 +1 validated p.E142* 1.000 78 0% 76 36.8% 3 33.3% - - - HMMPfam_SERTA KCNH1 3756 genome.wustl.edu 37 1 210857458 210857458 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172362.2 -1 reviewed p.D712G 0.998 105 0% 32 46.9% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KCNH1 3756 genome.wustl.edu 37 1 210948718 210948718 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172362.2 -1 reviewed p.L695R 1.000 333 0% 94 53.2% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_SM00100,superfamily_cAMP-binding domain-like KCNH1 3756 genome.wustl.edu 37 1 211280624 211280624 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172362.2 -1 reviewed p.E59* 1.000 222 0% 84 52.4% 0 - - - - superfamily_PYP-like sensor domain (PAS domain) TRAF5 7188 genome.wustl.edu 37 1 211545547 211545547 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033910.2 +1 reviewed p.R393* 1.000 121 0% 56 42.9% 7 14.2% - - - NULL LPGAT1 9926 genome.wustl.edu 37 1 211956832 211956832 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014873.2 -1 validated p.R156C 1.000 112 0% 78 42.3% 12 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase INTS7 25896 genome.wustl.edu 37 1 212156024 212156024 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015434.2 -1 provisional p.E376* 1.000 113 0% 58 46.6% 7 14.2% - - - superfamily_ARM repeat INTS7 25896 genome.wustl.edu 37 1 212180005 212180005 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015434.2 -1 provisional p.H285 0.995 249 0.4% 147 54.4% 8 75% - - - superfamily_ARM repeat INTS7 25896 genome.wustl.edu 37 1 212193518 212193518 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015434.2 -1 provisional p.R106I 1.000 95 0% 138 31.2% 10 60% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_ARM repeat PPP2R5A 5525 genome.wustl.edu 37 1 212502563 212502563 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006243.2 +1 reviewed p.D90N 1.000 107 0% 160 42.5% 2 100% possibly_damaging(0.862) tolerated(0.32) neutral(0.357) HMMPfam_B56,superfamily_ARM repeat PPP2R5A 5525 genome.wustl.edu 37 1 212530307 212530307 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006243.2 +1 reviewed p.E332* 1.000 99 0% 169 42.6% 16 6.2% - - - HMMPfam_B56,superfamily_ARM repeat PPP2R5A 5525 genome.wustl.edu 37 1 212530541 212530541 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006243.2 +1 reviewed p.L381I 1.000 164 0% 251 45.8% 16 50% benign(0.003) tolerated(0.21) neutral(0.044) HMMPfam_B56,superfamily_ARM repeat ANGEL2 90806 genome.wustl.edu 37 1 213178721 213178721 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144567.3 -1 validated p.F263C 1.000 183 0% 80 13.8% 8 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Exo_endo_phos,superfamily_DNase I-like RPS6KC1 26750 genome.wustl.edu 37 1 213415540 213415540 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012424.3 +1 validated p.Q907 0.989 122 0% 29 55.2% 13 30.7% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PROX1 5629 genome.wustl.edu 37 1 214170398 214170398 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002763.3 +1 provisional p.R174W 1.000 104 0% 57 57.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Prox1 PROX1 5629 genome.wustl.edu 37 1 214170988 214170988 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002763.3 +1 provisional p.V370 0.997 142 0% 58 60.3% 1 100% - - - HMMPfam_Prox1 SMYD2 56950 genome.wustl.edu 37 1 214492308 214492308 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020197.2 +1 validated p.L172 0.006 136 0% 63 34.9% 94 39.3% - - - HMMSmart_SET,superfamily_SSF82199 PTPN14 5784 genome.wustl.edu 37 1 214542937 214542937 + Missense_Mutation SNP C C T rs181559516 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005401.4 -1 reviewed p.R1045Q 1.000 301 0% 91 42.9% 18 61.1% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN14 5784 genome.wustl.edu 37 1 214549668 214549668 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005401.4 -1 reviewed p.A934V 0.054 403 0.2% 326 46% 21 61.9% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 CENPF 1063 genome.wustl.edu 37 1 214813457 214813457 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016343.3 +1 reviewed p.E592D 0.926 18 0% 28 46.4% 17 47% probably_damaging(0.971) deleterious(0.03) deleterious(0.777) NULL CENPF 1063 genome.wustl.edu 37 1 214814026 214814026 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016343.3 +1 reviewed p.R782I 0.024 62 0% 34 35.3% 17 29.4% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) superfamily_Spectrin repeat CENPF 1063 genome.wustl.edu 37 1 214816042 214816042 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016343.3 +1 reviewed p.R1454I 0.443 129 0% 40 10% 44 11.3% probably_damaging(0.995) tolerated(0.05) deleterious(0.803) NULL CENPF 1063 genome.wustl.edu 37 1 214818646 214818646 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016343.3 +1 reviewed p.K1911N 0.134 41 0% 27 48.1% 88 50% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL KCTD3 51133 genome.wustl.edu 37 1 215759899 215759899 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016121.3 +1 validated p.E230K 1.000 275 0% 93 43% 40 35% probably_damaging(0.976) deleterious(0) deleterious(0.863) superfamily_WD40 repeat-like USH2A 7399 genome.wustl.edu 37 1 215844359 215844359 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206933.2 -1 reviewed p.S4696 0.021 491 0% 121 40.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215844486 215844486 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206933.2 -1 reviewed p.S4654Y 0.591 360 0% 89 42.7% 0 - possibly_damaging(0.669) deleterious(0.04) deleterious(0.586) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215932062 215932062 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206933.2 -1 reviewed p.G3755V 0.992 315 0% 127 47.2% 0 - possibly_damaging(0.862) tolerated(0.24) neutral(0.370) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215933149 215933149 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206933.2 -1 reviewed p.S3695Y 1.000 159 0% 64 40.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216380715 216380715 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206933.2 -1 reviewed p.L1072 0.904 110 0% 60 33.3% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases USH2A 7399 genome.wustl.edu 37 1 216405466 216405466 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206933.2 -1 reviewed p.S941Y 1.000 125 0% 10 70% 0 - possibly_damaging(0.676) deleterious(0.01) deleterious(0.646) 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 216424432 216424432 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206933.2 -1 reviewed p.G660 1.000 222 0% 38 47.4% 0 - - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin EPRS 2058 genome.wustl.edu 37 1 220154160 220154160 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004446.2 -1 reviewed p.R1165C 1.000 149 0% 47 44.7% 104 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2b,superfamily_SSF55681 EPRS 2058 genome.wustl.edu 37 1 220170338 220170338 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004446.2 -1 reviewed p.E843G 1.000 160 0% 120 45.8% 42 42.8% benign(0.014) tolerated(0.16) neutral(0.060) HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1,superfamily_S15/NS1_bind IARS2 55699 genome.wustl.edu 37 1 220315228 220315228 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018060.3 +1 validated p.S833Y 0.840 349 0% 253 45.1% 104 47.1% possibly_damaging(0.562) tolerated(0.25) neutral(0.229) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 RAB3GAP2 25782 genome.wustl.edu 37 1 220363446 220363446 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012414.3 -1 reviewed p.K558 1.000 449 0% 97 45.4% 6 16.6% - - - NULL MARK1 4139 genome.wustl.edu 37 1 220805570 220805570 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018650.3 +1 validated p.R346Q 1.000 56 0% 42 50% 0 - benign(0.093) tolerated(0.11) neutral(0.279) HMMPfam_UBA,HMMSmart_SM00165 TAF1A 9015 genome.wustl.edu 37 1 222757471 222757471 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005681.2 -1 reviewed p.E97G 1.000 280 0% 89 41.6% 1 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL SUSD4 55061 genome.wustl.edu 37 1 223402555 223402555 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017982.3 -1 validated p.V300 0.999 103 0% 37 51.4% 5 60% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CAPN2 824 genome.wustl.edu 37 1 223947010 223947010 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001748.4 +1 reviewed p.F452L 1.000 60 0% 51 49% 56 41% probably_damaging(0.953) deleterious(0.03) deleterious(0.761) HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III) NVL 4931 genome.wustl.edu 37 1 224505619 224505619 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002533.2 -1 validated p.R49* 0.996 98 0% 289 41.9% 9 33.3% - - - NULL WDR26 80232 genome.wustl.edu 37 1 224619245 224619245 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025160.6 -1 reviewed p.H40Q 1.000 75 0% 172 45.3% 53 41.5% possibly_damaging(0.882) tolerated(0.24) neutral(0.382) HMMSmart_SM00668 DNAH14 127602 genome.wustl.edu 37 1 225211336 225211336 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001373.1 +1 validated p.I376S 0.006 92 0% 47 40.4% 1 0% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL DNAH14 127602 genome.wustl.edu 37 1 225306929 225306929 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001373.1 +1 validated p.R1367C 0.994 49 0% 20 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 DNAH14 127602 genome.wustl.edu 37 1 225454346 225454346 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001373.1 +1 validated p.L2466I 0.000 113 0% 91 51.6% 2 50% benign(0.003) tolerated(0.98) - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225490991 225490991 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001373.1 +1 validated p.A2829V 0.995 171 0% 25 52% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM63A 9725 genome.wustl.edu 37 1 226059726 226059726 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014698.2 -1 validated p.S98 0.000 105 0% 110 32.7% 10 70% - - - NULL PSEN2 5664 genome.wustl.edu 37 1 227077799 227077799 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000447.2 +1 reviewed p.R284I 1.000 112 0% 89 14.6% 37 10.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Presenilin,HMMSmart_SM00730 CDC42BPA 8476 genome.wustl.edu 37 1 227333197 227333197 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003607.3 -1 reviewed p.K379T 1.000 154 0% 103 47.6% 4 50% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMSmart_S_TK_X,HMMPfam_Pkinase_C ZNF678 339500 genome.wustl.edu 37 1 227842637 227842637 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178549.3 +1 validated p.R229I 0.072 73 0% 19 36.8% 4 50% benign(0.009) tolerated(0.19) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF678 339500 genome.wustl.edu 37 1 227842973 227842973 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178549.3 +1 validated p.R341I 1.000 47 0% 10 50% 4 25% possibly_damaging(0.449) tolerated(0.13) neutral(0.399) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF678 339500 genome.wustl.edu 37 1 227843225 227843225 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178549.3 +1 validated p.R425I 0.309 40 0% 15 46.7% 2 50% benign(0.118) tolerated(0.17) neutral(0.068) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF678 339500 genome.wustl.edu 37 1 227843477 227843477 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178549.3 +1 validated p.R509I 0.979 69 0% 20 50% 0 - benign(0.005) tolerated(0.12) neutral(0.261) superfamily_SSF57667 PRSS38 339501 genome.wustl.edu 37 1 228005040 228005040 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183062.2 +1 validated p.G148R 0.452 197 0% 74 47.3% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys OBSCN 84033 genome.wustl.edu 37 1 228452003 228452003 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098623.1 +1 reviewed p.L1591P 1.000 29 0% 33 27.3% 4 75% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228479615 228479615 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098623.1 +1 reviewed p.F3452L 1.000 87 0% 72 48.6% 1 0% probably_damaging(0.964) tolerated(0.07) deleterious(0.726) HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228521025 228521025 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098623.1 +1 reviewed e58+1 1.000 7 0.000 13 0.615 0 - - - - - OBSCN 84033 genome.wustl.edu 37 1 228554146 228554146 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098623.1 +1 reviewed p.E6408* 0.046 7 0.000 9 0.667 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin TRIM11 81559 genome.wustl.edu 37 1 228582509 228582509 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145214.2 -1 reviewed p.S435L 0.966 44 0% 30 63.3% 34 67.6% benign(0.087) deleterious(0.01) neutral(0.412) HMMPfam_SPRY,HMMSmart_SM00449 HIST3H3 8290 genome.wustl.edu 37 1 228613019 228613019 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003493.2 -1 reviewed p.R3Q 0.971 99 0% 16 56.2% 0 - probably_damaging(0.996) - - superfamily_Histone-fold HIST3H2BB 128312 genome.wustl.edu 37 1 228645961 228645961 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175055.2 +1 reviewed p.K44R 1.000 175 0% 117 45.3% 0 - possibly_damaging(0.61) tolerated(0.06) deleterious(0.534) HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold LOC100288545 100288545 genome.wustl.edu 37 1 229567218 229567218 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342173.1 +1 model p.E30D 0.975 95 0% 51 54.9% 0 - - - - NULL NUP133 55746 genome.wustl.edu 37 1 229600399 229600399 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018230.2 -1 reviewed p.Q841H 1.000 119 0% 86 38.4% 47 46.8% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Nup133 URB2 9816 genome.wustl.edu 37 1 229772193 229772193 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014777.2 +1 provisional p.Y611* 0.968 45 0% 79 40.5% 5 60% - - - NULL PGBD5 79605 genome.wustl.edu 37 1 230459357 230459357 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024554.3 -1 reviewed p.I493 0.998 220 0% 74 36.5% 2 0% - - - NULL COG2 22796 genome.wustl.edu 37 1 230804444 230804444 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007357.2 +1 reviewed p.L170 1.000 381 0% 102 43.1% 13 38.4% - - - NULL CAPN9 10753 genome.wustl.edu 37 1 230914723 230914723 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006615.2 +1 reviewed p.A320S 0.992 47 0% 22 50% 0 - benign(0.002) tolerated(1) - HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases C1orf124 83932 genome.wustl.edu 37 1 231488899 231488899 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032018.4 +1 validated p.F421C 0.799 32 0% 53 43.4% 12 83.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TSNAX 7257 genome.wustl.edu 37 1 231696939 231696939 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005999.2 +1 reviewed p.M145V 1.000 136 0% 128 13.3% 36 22.2% benign(0) tolerated(0.07) neutral(0.319) HMMPfam_Translin,superfamily_Translin SIPA1L2 57568 genome.wustl.edu 37 1 232600661 232600661 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020808.3 -1 validated p.E915D 1.000 77 0% 49 32.7% 4 50% probably_damaging(0.995) tolerated(0.51) neutral(0.467) NULL KIAA1383 54627 genome.wustl.edu 37 1 232941127 232941127 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019090.2 +1 validated p.L120I 0.995 47 0% 50 50% 0 - unknown(0) - - NULL NTPCR 84284 genome.wustl.edu 37 1 233092191 233092191 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032324.1 +1 provisional e3+2 1.000 295 0% 103 32% 6 100% - - - - PCNXL2 80003 genome.wustl.edu 37 1 233225913 233225913 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014801.3 -1 provisional p.T1324A 0.885 238 0% 113 38.1% 1 100% benign(0) tolerated(1) - NULL KIAA1804 84451 genome.wustl.edu 37 1 233489679 233489679 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032435.2 +1 validated p.E371 1.000 301 0% 58 48.3% 6 83.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KCNK1 3775 genome.wustl.edu 37 1 233807105 233807105 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002245.3 +1 reviewed p.F280L 1.000 117 0% 58 41.4% 22 50% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) superfamily_SSF81324 SLC35F3 148641 genome.wustl.edu 37 1 234458805 234458805 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173508.2 +1 provisional p.A430V 1.000 316 0% 110 43.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARID4B 51742 genome.wustl.edu 37 1 235345026 235345026 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016374.5 -1 reviewed p.E1070* 1.000 252 0% 156 25.6% 12 8.3% - - - NULL ARID4B 51742 genome.wustl.edu 37 1 235345390 235345390 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016374.5 -1 reviewed p.D948E 0.993 86 0% 94 39.4% 10 70% probably_damaging(0.998) tolerated(0.33) deleterious(0.498) NULL TBCE 6905 genome.wustl.edu 37 1 235602124 235602124 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079515.1 +1 reviewed p.R386Q 0.027 119 0% 89 48.3% 32 37.5% benign(0.004) tolerated(0.07) neutral(0.319) superfamily_SSF52047 GNG4 2786 genome.wustl.edu 37 1 235747095 235747095 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098721.1 -1 validated p.Q15R 0.998 143 0% 104 45.2% 0 - probably_damaging(0.957) tolerated(0.06) deleterious(0.723) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain LYST 1130 genome.wustl.edu 37 1 235907458 235907458 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000081.2 -1 reviewed e28-1 1.000 58 0% 56 44.6% 0 - - - - - LYST 1130 genome.wustl.edu 37 1 235969732 235969732 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000081.2 -1 reviewed p.L902I 1.000 158 0% 44 43.2% 1 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL LYST 1130 genome.wustl.edu 37 1 235971814 235971814 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000081.2 -1 reviewed p.C768 1.000 86 0% 33 51.5% 1 100% - - - NULL LYST 1130 genome.wustl.edu 37 1 235972728 235972728 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000081.2 -1 reviewed p.E464K 0.991 77 0% 45 57.8% 2 0% probably_damaging(0.99) tolerated(0.21) deleterious(0.485) NULL HEATR1 55127 genome.wustl.edu 37 1 236730153 236730153 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018072.4 -1 validated p.E1367D 0.956 91 0% 44 54.5% 12 41.6% benign(0.001) tolerated(0.16) neutral(0.059) superfamily_ARM-type_fold HEATR1 55127 genome.wustl.edu 37 1 236739568 236739568 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018072.4 -1 validated p.S1012F 1.000 177 0% 127 36.2% 5 80% possibly_damaging(0.855) deleterious(0.01) deleterious(0.736) superfamily_ARM-type_fold ACTN2 88 genome.wustl.edu 37 1 236924393 236924393 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001103.2 +1 reviewed p.D816N 1.000 186 0% 68 38.2% 0 - possibly_damaging(0.524) tolerated(0.12) neutral(0.437) HMMSmart_SM00054,superfamily_EF-hand RYR2 6262 genome.wustl.edu 37 1 237532833 237532833 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035.2 +1 reviewed e6-1 1.000 334 0% 163 38% 0 - - - - - RYR2 6262 genome.wustl.edu 37 1 237754222 237754222 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035.2 +1 reviewed p.E1364* 1.000 135 0% 61 39.3% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237780711 237780711 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035.2 +1 reviewed p.V1947 0.050 132 0% 43 44.2% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237863651 237863651 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035.2 +1 reviewed p.R3084L 1.000 86 0% 30 46.7% 0 - possibly_damaging(0.869) - - NULL RYR2 6262 genome.wustl.edu 37 1 237880546 237880546 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035.2 +1 reviewed p.R3458W 0.975 197 0% 49 42.9% 0 - probably_damaging(0.962) - - NULL RYR2 6262 genome.wustl.edu 37 1 237947912 237947912 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035.2 +1 reviewed p.S4300 0.876 172 0% 35 51.4% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237949284 237949284 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035.2 +1 reviewed p.E4426* 1.000 293 0% 110 44.5% 0 - - - - HMMPfam_RR_TM4-6 RYR2 6262 genome.wustl.edu 37 1 237949338 237949338 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035.2 +1 reviewed e91+2 1.000 378 0% 162 38.3% 0 - - - - - RYR2 6262 genome.wustl.edu 37 1 237982366 237982366 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035.2 +1 reviewed p.R4822C 0.995 570 0% 231 42.9% 0 - probably_damaging(1) - - HMMPfam_Ion_trans FMN2 56776 genome.wustl.edu 37 1 240601433 240601433 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020066.4 +1 validated p.F1661L 1.000 178 0% 122 13.9% 0 - possibly_damaging(0.897) tolerated(0.08) deleterious(0.654) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd WDR64 128025 genome.wustl.edu 37 1 241842833 241842833 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000366552 +1 known p.R177Q 1.000 107 0% 49 42.9% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMSmart_SM00320,superfamily_WD40 repeat-like EXO1 9156 genome.wustl.edu 37 1 242048791 242048791 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006027.4 +1 reviewed p.K796T 1.000 65 0% 82 41.5% 11 9% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL MAP1LC3C 440738 genome.wustl.edu 37 1 242162085 242162085 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004343.2 -1 validated p.K36T 1.000 81 0% 82 42.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAP1_LC3,superfamily_SSF54236 PLD5 200150 genome.wustl.edu 37 1 242271077 242271077 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152666.1 -1 provisional p.R287* 1.000 136 0% 75 38.7% 0 - - - - HMMPfam_PLD_envelope,superfamily_SSF56024 PLD5 200150 genome.wustl.edu 37 1 242451693 242451693 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152666.1 -1 provisional p.L64F 1.000 277 0% 116 17.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF56024 CEP170 9859 genome.wustl.edu 37 1 243303400 243303400 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014812.2 -1 reviewed p.R1357C 1.000 274 0% 112 34.8% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP170 9859 genome.wustl.edu 37 1 243327906 243327906 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014812.2 -1 reviewed p.A1119V 1.000 181 0% 53 39.6% 8 37.5% benign(0.072) tolerated(0.34) neutral(0.028) NULL CEP170 9859 genome.wustl.edu 37 1 243328511 243328511 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000336415 -1 known p.D881G 1.000 232 0.4% 98 46.9% 2 50% - - - NULL SDCCAG8 10806 genome.wustl.edu 37 1 243504411 243504411 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006642.2 +1 validated p.S431* 0.559 181 0% 145 49.7% 4 25% - - - NULL AKT3 10000 genome.wustl.edu 37 1 243800978 243800978 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005465.3 -1 reviewed p.R166* 1.000 262 0% 98 34.7% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase LOC440742 440742 genome.wustl.edu 37 1 244228360 244228360 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_040547.1 +1 model NULL 0.001 136 0% 178 41.6% 0 - - - - - C1orf101 257044 genome.wustl.edu 37 1 244724399 244724399 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130957.1 +1 validated p.N487H 0.942 142 0% 33 45.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C1orf101 257044 genome.wustl.edu 37 1 244780960 244780960 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130957.1 +1 validated p.R874C 0.864 288 0% 214 40.2% 0 - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL KIF26B 55083 genome.wustl.edu 37 1 245765915 245765915 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018012.3 +1 provisional p.R463* 0.602 79 0% 70 45.7% 4 25% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF26B 55083 genome.wustl.edu 37 1 245775110 245775110 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018012.3 +1 provisional p.E644K 1.000 31 0% 15 60% 3 33.3% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF26B 55083 genome.wustl.edu 37 1 245848935 245848935 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018012.3 +1 provisional p.E884K 1.000 13 0% 25 68% 7 14.2% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SCCPDH 51097 genome.wustl.edu 37 1 246923508 246923508 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016002.2 +1 validated p.K323 1.000 206 0% 265 45.3% 117 42.7% - - - HMMPfam_Saccharop_dh AHCTF1 25909 genome.wustl.edu 37 1 247024553 247024553 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015446.4 -1 validated p.K1260 0.134 166 0% 186 47.3% 14 35.7% - - - NULL NLRP3 114548 genome.wustl.edu 37 1 247582151 247582151 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079821.2 +1 reviewed p.D19Y 0.046 23 0% 17 41.2% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_PAAD_DAPIN,superfamily_DEATH_like NLRP3 114548 genome.wustl.edu 37 1 247586531 247586531 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079821.2 +1 reviewed e2-1 0.000 285 0% 211 43.1% 0 - - - - - OR2B11 127623 genome.wustl.edu 37 1 247614532 247614532 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004492.1 -1 provisional p.I251 0.997 355 0% 171 44.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2B11 127623 genome.wustl.edu 37 1 247614814 247614814 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004492.1 -1 provisional p.F157 0.000 169 0% 45 82.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2W5 441932 genome.wustl.edu 37 1 247655188 247655188 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004698.2 +1 validated p.R253 0.312 90 0% 35 45.7% 0 - - - - HMMPfam_7tm_1 OR6F1 343169 genome.wustl.edu 37 1 247875194 247875194 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005286.1 -1 provisional p.F288L 0.983 131 0% 66 54.5% 0 - probably_damaging(0.999) tolerated(0.51) deleterious(0.499) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TRIM58 25893 genome.wustl.edu 37 1 248031154 248031154 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015431.3 +1 validated p.R252I 0.011 311 0% 282 45% 0 - possibly_damaging(0.66) tolerated(0.29) neutral(0.262) NULL OR2L2 26246 genome.wustl.edu 37 1 248201663 248201663 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004686.2 +1 provisional p.L32I 0.738 490 0% 189 33.9% 0 - benign(0.028) tolerated(0.38) neutral(0.019) superfamily_SSF81321 OR2L2 26246 genome.wustl.edu 37 1 248201838 248201838 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004686.2 +1 provisional p.S90Y 0.016 425 0% 133 60.2% 0 - benign(0) tolerated(0.07) neutral(0.319) HMMPfam_7tm_1,superfamily_SSF81321 OR2L3 391192 genome.wustl.edu 37 1 248224194 248224194 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004687.1 +1 provisional p.N71H 0.000 625 0% 179 49.2% 0 - benign(0.115) deleterious(0.02) neutral(0.392) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2M5 127059 genome.wustl.edu 37 1 248308941 248308941 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004690.1 +1 provisional p.F164L 0.001 549 0.2% 162 11.7% 0 - benign(0.001) tolerated(0.72) neutral(0.002) HMMPfam_7tm_1,superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248343830 248343830 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004688.1 +1 provisional p.F181 0.000 412 0.2% 168 48.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2M3 127062 genome.wustl.edu 37 1 248366647 248366647 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004689.1 +1 provisional p.S93Y 0.529 836 0% 120 52.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T12 127064 genome.wustl.edu 37 1 248458811 248458811 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004692.1 -1 provisional p.V24I 0.005 192 0% 122 42.6% 0 - benign(0.042) tolerated(0.18) neutral(0.059) superfamily_SSF81321 OR2T4 127074 genome.wustl.edu 37 1 248525194 248525194 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004696.1 +1 provisional p.A104 0.000 528 0% 121 46.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2T5 401993 genome.wustl.edu 37 1 248651994 248651994 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004697.1 +1 provisional p.I35 0.023 602 0% 111 23.4% 0 - - - - superfamily_SSF81321 OR14I1 401994 genome.wustl.edu 37 1 248844676 248844676 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004734.1 -1 provisional p.Q310 0.000 38 0% 71 42.3% 0 - - - - superfamily_SSF81321 ZNF692 55657 genome.wustl.edu 37 1 249149759 249149759 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136036.1 -1 provisional p.I324M 0.958 97 1% 77 28.6% 25 52% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL PXDN 7837 genome.wustl.edu 37 2 1677539 1677539 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000433670 -1 known p.T294M 0.076 414 0% 149 47% 13 38.4% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYT1L 23040 genome.wustl.edu 37 2 1946755 1946755 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015025.2 -1 validated p.N168 0.687 181 0% 94 33% 0 - - - - NULL MYT1L 23040 genome.wustl.edu 37 2 1983498 1983498 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015025.2 -1 validated p.R18* 1.000 72 0% 41 46.3% 0 - - - - NULL TRAPPC12 51112 genome.wustl.edu 37 2 3481527 3481527 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016030.5 +1 validated p.L613* 0.129 77 0% 222 48.2% 40 17.5% - - - HMMSmart_TPR,superfamily_SSF48452 RPS7 6201 genome.wustl.edu 37 2 3623180 3623180 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001011.3 +1 reviewed e1-2 0.002 7 0.000 10 0.400 5 20% - - - - MBOAT2 129642 genome.wustl.edu 37 2 9098719 9098719 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138799.2 -1 validated p.R43Q 1.000 106 1.9% 63 34.9% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAM17 6868 genome.wustl.edu 37 2 9668023 9668023 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003183.4 -1 reviewed p.D171Y 1.000 150 0% 212 51.4% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GRHL1 29841 genome.wustl.edu 37 2 10136458 10136458 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198182.2 +1 reviewed p.R347* 1.000 181 0% 211 48.8% 5 0% - - - NULL UNQ5830 400943 genome.wustl.edu 37 2 10143829 10143829 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_041686.1 -1 model NULL 0.006 116 0% 194 40.7% 0 - - - - - ODC1 4953 genome.wustl.edu 37 2 10585139 10585139 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002539.1 -1 reviewed p.E7G 0.302 77 0% 194 50.5% 209 47.3% benign(0.003) deleterious(0.02) neutral(0.383) NULL NOL10 79954 genome.wustl.edu 37 2 10729370 10729370 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024894.2 -1 validated p.S548L 1.000 261 0.4% 270 46.7% 70 42.8% benign(0.01) tolerated(0.05) neutral(0.346) NULL NOL10 79954 genome.wustl.edu 37 2 10799357 10799357 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024894.2 -1 validated p.I233L 0.996 213 0% 112 53.6% 18 44.4% benign(0.215) tolerated(0.1) neutral(0.307) HMMSmart_SM00320,superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase NOL10 79954 genome.wustl.edu 37 2 10822183 10822183 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024894.2 -1 validated p.R42I 1.000 101 0% 88 44.3% 21 38% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase ATP6V1C2 245973 genome.wustl.edu 37 2 10863008 10863008 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039362.1 +1 reviewed p.G11 0.036 243 0% 248 46.8% 0 - - - - HMMPfam_V-ATPase_C ATP6V1C2 245973 genome.wustl.edu 37 2 10917830 10917830 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039362.1 +1 reviewed p.E315D 1.000 63 0% 71 42.3% 0 - benign(0.313) tolerated(0.06) neutral(0.420) HMMPfam_V-ATPase_C KCNF1 3754 genome.wustl.edu 37 2 11053705 11053705 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002236.4 +1 reviewed p.L385F 1.000 55 0% 44 47.7% 1 100% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ROCK2 9475 genome.wustl.edu 37 2 11338811 11338811 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004850.3 -1 reviewed p.Q1000H 1.000 137 0% 111 43.2% 24 45.8% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_Rho_Binding GREB1 9687 genome.wustl.edu 37 2 11728985 11728985 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014668.3 +1 reviewed p.G425S 1.000 72 0% 30 46.7% 6 83.3% probably_damaging(0.976) deleterious(0.02) deleterious(0.801) NULL LPIN1 23175 genome.wustl.edu 37 2 11905772 11905772 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145693.1 +1 reviewed p.V35 0.014 98 0% 77 46.8% 6 33.3% - - - HMMPfam_Lipin_N NBAS 51594 genome.wustl.edu 37 2 15514762 15514762 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015909.2 -1 validated p.E1225* 1.000 81 0% 40 70% 10 20% - - - HMMPfam_Sec39 NBAS 51594 genome.wustl.edu 37 2 15567868 15567868 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015909.2 -1 validated p.R797Q 1.000 129 0% 32 25% 4 0% unknown(0) deleterious(0.02) - HMMPfam_Sec39 NBAS 51594 genome.wustl.edu 37 2 15608646 15608646 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015909.2 -1 validated p.K579N 1.000 176 0% 63 50.8% 5 20% unknown(0) tolerated(0.3) - NULL FAM49A 81553 genome.wustl.edu 37 2 16742338 16742338 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030797.3 -1 validated e7-1 1.000 550 0% 92 41.3% 0 - - - - - FAM49A 81553 genome.wustl.edu 37 2 16743407 16743407 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030797.3 -1 validated p.K101Q 1.000 174 0% 53 45.3% 0 - benign(0.002) tolerated(0.4) neutral(0.016) HMMPfam_DUF1394 RAD51AP2 729475 genome.wustl.edu 37 2 17697446 17697446 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099218.2 -1 provisional p.R746Q 0.015 263 0% 248 40.7% 0 - benign(0.001) tolerated(0.5) neutral(0.010) NULL RAD51AP2 729475 genome.wustl.edu 37 2 17698588 17698588 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099218.2 -1 provisional p.K365N 0.000 46 0% 102 10.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RAD51AP2 729475 genome.wustl.edu 37 2 17699411 17699411 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099218.2 -1 provisional p.E91G 0.145 134 0% 50 40% 0 - benign(0.093) tolerated(0.35) neutral(0.028) NULL SMC6 79677 genome.wustl.edu 37 2 17876479 17876479 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142286.1 -1 validated p.R873Q 0.994 510 0% 107 31.8% 11 72.7% possibly_damaging(0.687) tolerated(0.29) neutral(0.275) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC6 79677 genome.wustl.edu 37 2 17884432 17884432 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142286.1 -1 validated p.E712* 1.000 141 0% 88 34.1% 4 25% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases GEN1 348654 genome.wustl.edu 37 2 17950042 17950042 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130009.1 +1 validated p.L225R 1.000 109 0% 97 20.6% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00279,superfamily_5' to 3' exonuclease C-terminal subdomain GEN1 348654 genome.wustl.edu 37 2 17962005 17962005 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130009.1 +1 validated p.S509L 0.000 136 0.7% 101 44.6% 5 40% benign(0) tolerated(0.21) neutral(0.044) NULL MSGN1 343930 genome.wustl.edu 37 2 17998275 17998275 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105569.1 +1 provisional p.K164E 1.000 60 0% 23 30.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic KCNS3 3790 genome.wustl.edu 37 2 18112450 18112450 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002252.3 +1 reviewed p.D59Y 1.000 277 0% 83 49.4% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold NT5C1B 93034 genome.wustl.edu 37 2 18745176 18745176 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000418427 -1 known p.L228I 0.995 110 0% 84 36.9% 5 60% - - - HMMPfam_5-nucleotidase TTC32 130502 genome.wustl.edu 37 2 20096773 20096773 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008237.1 -1 provisional p.R144I 0.975 121 0% 208 47.1% 16 18.7% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) superfamily_SSF48452 HS1BP3 64342 genome.wustl.edu 37 2 20845260 20845260 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022460.3 -1 reviewed p.L13R 0.979 46 0% 24 50% 11 63.6% possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL C2orf43 60526 genome.wustl.edu 37 2 21001148 21001148 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021925.2 -1 predicted p.L26I 0.961 250 0% 86 40.7% 2 50% benign(0.103) tolerated(0.32) neutral(0.032) NULL APOB 338 genome.wustl.edu 37 2 21224939 21224939 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000384.2 -1 reviewed p.L4452H 0.234 105 0% 67 13.4% 0 - probably_damaging(1) - - NULL APOB 338 genome.wustl.edu 37 2 21230433 21230433 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000384.2 -1 reviewed p.S3103A 1.000 197 0% 91 47.3% 1 0% probably_damaging(0.992) - - NULL APOB 338 genome.wustl.edu 37 2 21231531 21231531 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000384.2 -1 reviewed p.H2737N 1.000 241 0% 76 14.5% 0 - possibly_damaging(0.907) - - NULL APOB 338 genome.wustl.edu 37 2 21236274 21236274 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000384.2 -1 reviewed p.S1325Y 0.128 291 0% 63 47.6% 0 - possibly_damaging(0.922) - - NULL KLHL29 114818 genome.wustl.edu 37 2 23929528 23929528 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000486442 +1 known p.S874 1.000 36 0% 42 42.9% 1 0% - - - NULL C2orf84 653140 genome.wustl.edu 37 2 24384418 24384418 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000454150 +1 known p.L243 0.378 95 0% 251 42.6% 0 - - - - NULL NCOA1 8648 genome.wustl.edu 37 2 24952646 24952646 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003743.4 +1 reviewed p.R1055* 0.999 158 0% 67 46.3% 6 50% - - - NULL EFR3B 22979 genome.wustl.edu 37 2 25358474 25358474 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014971.1 +1 validated p.R484C 1.000 52 0% 68 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat CCDC164 92749 genome.wustl.edu 37 2 26644216 26644216 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145038.2 +1 validated p.D102Y 0.997 105 0% 80 50% 0 - unknown(0) deleterious(0) - NULL CCDC164 92749 genome.wustl.edu 37 2 26653653 26653653 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145038.2 +1 validated e6-1 1.000 127 0.8% 92 15.2% 0 - - - - - OTOF 9381 genome.wustl.edu 37 2 26683738 26683738 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194248.2 -1 reviewed p.N1898 0.985 110 0.9% 29 31% 0 - - - - NULL OTOF 9381 genome.wustl.edu 37 2 26706387 26706387 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194248.2 -1 reviewed p.I445 0.323 29 0% 69 49.3% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) DPYSL5 56896 genome.wustl.edu 37 2 27150167 27150167 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020134.3 +1 validated p.S156* 1.000 120 0% 51 41.2% 0 - - - - HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 AGBL5 60509 genome.wustl.edu 37 2 27277556 27277556 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021831.5 +1 validated p.R204S 1.000 133 0% 246 46.3% 38 42.1% possibly_damaging(0.878) tolerated(0.09) deleterious(0.639) superfamily_Zn-dependent exopeptidases KHK 3795 genome.wustl.edu 37 2 27315264 27315264 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000221.2 +1 reviewed p.L53F 1.000 24 0% 17 70.6% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PfkB,superfamily_Ribokinase-like CAD 790 genome.wustl.edu 37 2 27446603 27446603 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004341.3 +1 reviewed p.L328 0.986 103 0% 77 40.3% 15 46.6% - - - HMMPfam_GATase,superfamily_SSF52317 CAD 790 genome.wustl.edu 37 2 27457396 27457396 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004341.3 +1 reviewed p.L1210P 1.000 165 0% 108 37% 23 56.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CPSase_L_D2,superfamily_SSF56059 CAD 790 genome.wustl.edu 37 2 27457494 27457494 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004341.3 +1 reviewed p.M1243V 1.000 188 0% 111 46.8% 23 69.5% benign(0.009) tolerated(0.64) neutral(0.004) HMMPfam_CPSase_L_D2,superfamily_SSF56059 CAD 790 genome.wustl.edu 37 2 27463929 27463929 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004341.3 +1 reviewed p.L1881P 0.998 96 0% 95 47.4% 44 40.9% benign(0.004) tolerated(0.09) neutral(0.296) NULL GTF3C2 2976 genome.wustl.edu 37 2 27552085 27552085 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001035521.1 -1 validated p.E648K 1.000 254 0% 129 46.5% 42 42.8% probably_damaging(0.962) tolerated(0.35) neutral(0.426) superfamily_WD40 repeat-like SNX17 9784 genome.wustl.edu 37 2 27597990 27597990 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014748.2 +1 reviewed p.K248N 1.000 31 0% 54 42.6% 147 46.2% possibly_damaging(0.793) tolerated(0.41) neutral(0.313) HMMPfam_FERM_M FNDC4 64838 genome.wustl.edu 37 2 27716844 27716844 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022823.2 -1 validated p.R136Q 1.000 39 0% 47 48.9% 3 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_FN_III-like GCKR 2646 genome.wustl.edu 37 2 27728635 27728635 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001486.3 +1 reviewed p.K267N 1.000 72 0% 61 41% 0 - possibly_damaging(0.555) tolerated(0.1) deleterious(0.476) PatternScan_GCKR,superfamily_SIS domain C2orf16 84226 genome.wustl.edu 37 2 27799859 27799859 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032266.3 +1 validated p.K140N 0.000 43 0% 46 43.5% 0 - benign(0.17) deleterious(0) neutral(0.460) NULL C2orf16 84226 genome.wustl.edu 37 2 27800056 27800056 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032266.3 +1 validated p.F206C 0.037 36 0% 41 48.8% 0 - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL C2orf16 84226 genome.wustl.edu 37 2 27800644 27800644 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032266.3 +1 validated p.S402Y 0.236 55 0% 53 47.2% 0 - probably_damaging(0.996) - - NULL C2orf16 84226 genome.wustl.edu 37 2 27800801 27800801 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032266.3 +1 validated p.K454N 0.231 41 0% 40 37.5% 2 50% possibly_damaging(0.727) deleterious(0.01) deleterious(0.670) NULL C2orf16 84226 genome.wustl.edu 37 2 27800932 27800932 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032266.3 +1 validated p.S498Y 0.000 63 0% 61 42.6% 0 - possibly_damaging(0.928) deleterious(0.04) deleterious(0.724) NULL C2orf16 84226 genome.wustl.edu 37 2 27803127 27803127 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032266.3 +1 validated p.V1230F 0.011 37 0% 39 53.8% 1 100% benign(0.015) deleterious(0) neutral(0.445) NULL CCDC121 79635 genome.wustl.edu 37 2 27850468 27850468 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142683.2 -1 validated p.E229* 0.015 218 0% 222 49.1% 3 33.3% - - - NULL CCDC121 79635 genome.wustl.edu 37 2 27851291 27851291 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142683.2 -1 validated p.D114N 0.000 29 0% 18 44.4% 0 - probably_damaging(0.976) - - NULL GPN1 11321 genome.wustl.edu 37 2 27861798 27861798 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007266.3 +1 reviewed p.F220C 1.000 152 0% 68 36.8% 44 56.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ATP_bind_1 BRE 9577 genome.wustl.edu 37 2 28352238 28352238 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004899.3 +1 validated p.R224Q 1.000 617 0.2% 180 53.3% 44 52.2% possibly_damaging(0.733) tolerated(0.09) deleterious(0.565) HMMPfam_BRE PLB1 151056 genome.wustl.edu 37 2 28836923 28836923 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000404858 +1 known p.G1040* 0.007 102 0% 147 41.5% 0 - possibly_damaging(0.873) tolerated(0.1) deleterious(0.625) NULL PPP1CB 5500 genome.wustl.edu 37 2 29004610 29004610 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002709.2 +1 reviewed p.R141Q 1.000 97 0% 202 42.6% 149 45.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases WDR43 23160 genome.wustl.edu 37 2 29169592 29169592 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015131.1 +1 validated p.E661* 0.983 313 0% 151 38.4% 83 45.7% - - - NULL FAM179A 165186 genome.wustl.edu 37 2 29245041 29245041 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199280.2 +1 validated p.V460M 0.910 203 0% 102 54.9% 0 - benign(0.001) tolerated(0.23) neutral(0.042) NULL C2orf71 388939 genome.wustl.edu 37 2 29296524 29296524 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029883.1 -1 provisional p.L202M 0.003 185 0% 136 44.1% 0 - possibly_damaging(0.91) tolerated(0.06) deleterious(0.685) NULL YPEL5 51646 genome.wustl.edu 37 2 30379639 30379639 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127399.1 +1 validated p.R41K 1.000 112 0% 95 14.7% 55 7.2% possibly_damaging(0.597) tolerated(0.23) neutral(0.248) HMMPfam_Yippee CAPN13 92291 genome.wustl.edu 37 2 30966375 30966375 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144575.2 -1 validated p.K440T 0.000 461 0.2% 268 44.8% 1 100% benign(0.273) tolerated(0.52) neutral(0.038) superfamily_Calpain large subunit middle domain (domain III) CAPN13 92291 genome.wustl.edu 37 2 30977193 30977193 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144575.2 -1 validated p.S302R 0.001 319 0% 97 36.1% 3 33.3% benign(0.009) tolerated(0.64) neutral(0.004) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases GALNT14 79623 genome.wustl.edu 37 2 31168707 31168707 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024572.2 -1 validated p.I228 0.377 145 0% 31 48.4% 0 - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases XDH 7498 genome.wustl.edu 37 2 31569662 31569662 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000379.3 -1 reviewed p.K1108 0.989 152 0% 126 38.1% 0 - - - - HMMPfam_Ald_Xan_dh_C2,superfamily_Ald_xan_DH_mo_bd XDH 7498 genome.wustl.edu 37 2 31606641 31606641 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000379.3 -1 reviewed p.S289L 0.000 244 0% 104 49% 0 - benign(0.007) tolerated(0.39) neutral(0.016) HMMPfam_FAD_binding_5,superfamily_FAD-binding_2 SRD5A2 6716 genome.wustl.edu 37 2 31754438 31754438 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000233139 -1 known p.A212T 0.864 124 0% 24 58.3% 0 - - - - HMMPfam_Steroid_dh NLRC4 58484 genome.wustl.edu 37 2 32460483 32460483 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000360906 -1 known p.E923 0.126 327 0% 136 43.4% 1 0% - - - superfamily_RNI-like NLRC4 58484 genome.wustl.edu 37 2 32460542 32460542 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000360906 -1 known p.E904K 0.007 312 0% 110 15.5% 1 0% benign(0.417) tolerated(0.31) neutral(0.162) superfamily_RNI-like NLRC4 58484 genome.wustl.edu 37 2 32475156 32475156 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000360906 -1 known p.D593N 0.936 239 0% 192 41.1% 0 - possibly_damaging(0.68) tolerated(0.38) neutral(0.260) NULL NLRC4 58484 genome.wustl.edu 37 2 32475610 32475610 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000360906 -1 known p.F441L 1.000 133 0% 68 47.1% 0 - possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL BIRC6 57448 genome.wustl.edu 37 2 32639968 32639968 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016252.3 +1 reviewed p.E537* 1.000 216 0% 119 25.2% 3 0% - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32640218 32640218 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016252.3 +1 reviewed p.S620F 1.000 408 0% 248 22.6% 7 28.5% possibly_damaging(0.805) deleterious(0.04) deleterious(0.652) NULL BIRC6 57448 genome.wustl.edu 37 2 32707634 32707634 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016252.3 +1 reviewed p.S2560 0.998 394 0% 126 24.6% 13 23% - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32730161 32730161 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016252.3 +1 reviewed p.W3197R 1.000 400 0% 120 20% 14 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose-binding domain-like BIRC6 57448 genome.wustl.edu 37 2 32756613 32756613 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016252.3 +1 reviewed p.Q4096K 1.000 218 0% 150 20.7% 40 20% possibly_damaging(0.952) tolerated(1) neutral(0.396) NULL BIRC6 57448 genome.wustl.edu 37 2 32800276 32800276 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016252.3 +1 reviewed p.R4400W 1.000 306 0% 149 22.1% 49 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BIRC6 57448 genome.wustl.edu 37 2 32836583 32836583 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016252.3 +1 reviewed p.D4776 1.000 581 0% 200 20.5% 142 19.7% - - - NULL TTC27 55622 genome.wustl.edu 37 2 33036270 33036270 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017735.3 +1 provisional p.K726 0.934 507 0% 262 19.8% 41 39% - - - superfamily_SSF48452 TTC27 55622 genome.wustl.edu 37 2 33042570 33042570 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017735.3 +1 provisional p.V785 0.683 389 0.3% 285 22.1% 39 20.5% - - - NULL RASGRP3 25780 genome.wustl.edu 37 2 33741647 33741647 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001139488.1 +1 validated p.I37L 1.000 376 0% 191 46.6% 3 66.6% benign(0.009) tolerated(0.07) neutral(0.320) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF RASGRP3 25780 genome.wustl.edu 37 2 33784079 33784079 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001139488.1 +1 validated p.E682D 0.442 49 0% 28 57.1% 8 12.5% benign(0) deleterious(0) neutral(0.445) NULL VIT 5212 genome.wustl.edu 37 2 37032707 37032707 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053276.3 +1 validated p.R430I 0.763 221 0% 81 50.6% 1 0% probably_damaging(1) tolerated(0.32) deleterious(0.524) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 HEATR5B 54497 genome.wustl.edu 37 2 37217805 37217805 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019024.1 -1 validated p.S1895A 1.000 143 0% 128 45.3% 16 50% possibly_damaging(0.592) tolerated(0.1) deleterious(0.491) superfamily_ARM repeat HEATR5B 54497 genome.wustl.edu 37 2 37292908 37292908 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019024.1 -1 validated p.E441D 1.000 104 0% 27 55.6% 2 0% benign(0.019) tolerated(1) neutral(0.001) superfamily_ARM repeat HEATR5B 54497 genome.wustl.edu 37 2 37310503 37310503 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019024.1 -1 validated p.E19K 1.000 147 0% 170 41.2% 0 - possibly_damaging(0.857) deleterious(0.01) deleterious(0.737) superfamily_ARM repeat CCDC75 253635 genome.wustl.edu 37 2 37319321 37319321 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174931.2 +1 validated p.N151H 0.769 54 0% 40 12.5% 11 36.3% benign(0) tolerated(0.33) neutral(0.024) NULL EIF2AK2 5610 genome.wustl.edu 37 2 37368815 37368815 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135651.1 -1 validated p.T90 0.000 70 0% 131 50.4% 14 50% - - - superfamily_dsRNA-binding domain-like CEBPZ 10153 genome.wustl.edu 37 2 37428913 37428913 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005760.2 -1 validated p.R1053 0.998 123 0% 146 41.1% 15 20% - - - NULL CEBPZ 10153 genome.wustl.edu 37 2 37455305 37455305 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005760.2 -1 validated p.A344V 1.000 103 0% 96 38.5% 22 40.9% benign(0.123) tolerated(0.4) neutral(0.026) superfamily_ARM repeat LOC344382 344382 genome.wustl.edu 37 2 38044883 38044883 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_293026.6 +1 model p.E276* 1.000 180 0% 179 44.1% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CYP1B1 1545 genome.wustl.edu 37 2 38298080 38298080 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000104.3 -1 reviewed p.E473K 0.992 57 0% 75 40% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_p450,superfamily_Cytochrome_P450 ATL2 64225 genome.wustl.edu 37 2 38525333 38525333 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135673.1 -1 validated p.E529* 1.000 294 0% 87 48.3% 39 35.8% - - - NULL DHX57 90957 genome.wustl.edu 37 2 39025506 39025506 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198963.1 -1 provisional p.L1366M 1.000 237 0% 166 49.4% 33 51.5% possibly_damaging(0.934) tolerated(0.13) deleterious(0.633) NULL ARHGEF33 100271715 genome.wustl.edu 37 2 39156109 39156109 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145451.2 +1 validated p.R46I 1.000 262 0% 106 50% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL SOS1 6654 genome.wustl.edu 37 2 39250182 39250182 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005633.3 -1 reviewed p.L463I 1.000 91 0% 44 61.4% 8 50% possibly_damaging(0.923) tolerated(0.12) deleterious(0.633) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like MAP4K3 8491 genome.wustl.edu 37 2 39552705 39552705 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003618.2 -1 reviewed p.N291T 1.000 139 0% 80 38.8% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) SLC8A1 6546 genome.wustl.edu 37 2 40656514 40656514 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021097.2 -1 validated p.F303V 1.000 93 0% 39 48.7% 0 - benign(0.256) tolerated(0.21) neutral(0.070) NULL EML4 27436 genome.wustl.edu 37 2 42490393 42490393 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019063.3 +1 validated p.S196 0.993 161 0% 186 41.4% 9 22.2% - - - NULL EML4 27436 genome.wustl.edu 37 2 42528494 42528494 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019063.3 +1 validated p.L535M 0.996 150 0% 114 39.5% 10 40% benign(0.013) tolerated(0.23) neutral(0.042) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 THADA 63892 genome.wustl.edu 37 2 43779424 43779424 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083953.1 -1 validated p.S910Y 0.998 127 0% 49 40.8% 14 28.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM repeat THADA 63892 genome.wustl.edu 37 2 43797649 43797649 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083953.1 -1 validated p.L689V 1.000 211 0% 138 48.6% 8 25% possibly_damaging(0.929) tolerated(0.13) deleterious(0.629) superfamily_ARM repeat PLEKHH2 130271 genome.wustl.edu 37 2 43927263 43927263 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172069.3 +1 validated p.K389T 0.444 52 0% 71 36.6% 1 100% probably_damaging(0.99) tolerated(0.35) neutral(0.462) NULL DYNC2LI1 51626 genome.wustl.edu 37 2 44014332 44014332 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016008.2 +1 validated p.P58 0.999 102 0% 99 42.4% 32 50% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DYNC2LI1 51626 genome.wustl.edu 37 2 44036869 44036869 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016008.2 +1 validated p.S340Y 1.000 134 0% 100 43% 21 52.3% possibly_damaging(0.654) deleterious(0.04) deleterious(0.579) NULL ABCG5 64240 genome.wustl.edu 37 2 44051250 44051250 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022436.2 -1 reviewed p.T376A 0.192 41 0% 103 46.6% 0 - - - - HMMPfam_ABC2_membrane ABCG8 64241 genome.wustl.edu 37 2 44104775 44104775 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022437.2 +1 reviewed p.R611I 0.000 87 0% 60 51.7% 0 - benign(0) tolerated(0.44) neutral(0.013) NULL SRBD1 55133 genome.wustl.edu 37 2 45620220 45620220 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018079.4 -1 validated p.E854D 1.000 267 0% 151 43.7% 15 40% benign(0) tolerated(0.6) neutral(0.004) NULL PRKCE 5581 genome.wustl.edu 37 2 46386788 46386788 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005400.2 +1 reviewed p.S655L 0.128 95 0% 90 31.1% 1 100% possibly_damaging(0.538) deleterious(0.04) deleterious(0.531) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CRIPT 9419 genome.wustl.edu 37 2 46850954 46850954 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014171.4 +1 validated p.S63R 1.000 84 0% 89 37.1% 34 41.1% benign(0.282) tolerated(0.1) neutral(0.373) HMMPfam_Cript SOCS5 9655 genome.wustl.edu 37 2 46985893 46985893 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014011.4 +1 reviewed p.S75Y 1.000 96 0% 73 47.9% 7 0% possibly_damaging(0.527) deleterious(0.03) deleterious(0.542) NULL MSH6 2956 genome.wustl.edu 37 2 48030689 48030689 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000179.2 +1 reviewed p.K1101N 1.000 456 0% 106 58.5% 88 44.3% benign(0.002) tolerated(0.46) neutral(0.012) HMMPfam_MutS_V,HMMSmart_SM00533,superfamily_P-loop containing nucleoside triphosphate hydrolases MSH6 2956 genome.wustl.edu 37 2 48033685 48033685 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000179.2 +1 reviewed p.G1299D 1.000 136 0% 54 53.7% 116 52.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MutS_V,HMMSmart_SM00534,superfamily_P-loop containing nucleoside triphosphate hydrolases PPP1R21 129285 genome.wustl.edu 37 2 48681801 48681801 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135629.1 +1 validated p.R65Q 1.000 62 0% 81 46.9% 20 30% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_KLRAQ PPP1R21 129285 genome.wustl.edu 37 2 48734432 48734432 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135629.1 +1 validated p.D665Y 1.000 203 0% 161 41.6% 21 61.9% probably_damaging(0.965) deleterious(0.02) deleterious(0.790) HMMPfam_TTKRSYEDQ STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48809571 48809571 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172311.1 +1 reviewed p.R600Q 1.000 56 0% 53 47.2% 0 - probably_damaging(0.998) tolerated(0.6) deleterious(0.479) HMMPfam_Adap_comp_sub,superfamily_AP50 STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48869591 48869591 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172311.1 +1 reviewed p.E804* 1.000 132 0% 134 34.3% 0 - - - - HMMPfam_TFIIA STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48896993 48896993 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172311.1 +1 reviewed p.E1075* 1.000 163 0% 102 33.3% 0 - - - - HMMPfam_TFIIA LHCGR 3973 genome.wustl.edu 37 2 48915072 48915072 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000233.3 -1 reviewed p.L622M 1.000 114 0% 40 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LHCGR 3973 genome.wustl.edu 37 2 48925889 48925889 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000233.3 -1 reviewed p.S244F 1.000 304 0% 128 47.7% 0 - benign(0.028) deleterious(0.02) neutral(0.385) superfamily_L domain-like LHCGR 3973 genome.wustl.edu 37 2 48936156 48936156 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000233.3 -1 reviewed p.L204R 0.919 513 0% 58 37.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like FSHR 2492 genome.wustl.edu 37 2 49295407 49295407 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000145.3 -1 reviewed p.R59* 1.000 300 0% 22 36.4% 0 - - - - superfamily_L domain-like ASB3 51130 genome.wustl.edu 37 2 53941719 53941719 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016115.3 -1 reviewed e6-1 1.000 147 0% 39 48.7% 0 - - - - - CHAC2 494143 genome.wustl.edu 37 2 54001365 54001365 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008708.2 +1 provisional p.G86 1.000 296 0% 240 46.7% 8 37.5% - - - HMMPfam_ChaC,superfamily_SSF110857 PSME4 23198 genome.wustl.edu 37 2 54102877 54102877 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014614.2 -1 validated p.N1611H 1.000 158 0% 180 43.9% 54 72.2% benign(0.068) tolerated(0.09) neutral(0.301) superfamily_ARM repeat PSME4 23198 genome.wustl.edu 37 2 54146299 54146299 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014614.2 -1 validated p.P835 0.991 90 0% 121 43.8% 12 66.6% - - - NULL PSME4 23198 genome.wustl.edu 37 2 54154547 54154547 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014614.2 -1 validated p.R526I 1.000 165 0% 141 48.2% 8 25% benign(0.025) tolerated(0.15) neutral(0.242) NULL ACYP2 98 genome.wustl.edu 37 2 54342823 54342823 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000303536 +1 known p.G24 0.001 47 0% 19 47.4% 2 50% - - - NULL TSPYL6 388951 genome.wustl.edu 37 2 54482339 54482339 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003937.2 -1 validated p.S317Y 0.070 100 0% 86 16.3% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_NAP TSPYL6 388951 genome.wustl.edu 37 2 54483053 54483053 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003937.2 -1 validated p.R79H 0.000 67 1.5% 30 43.3% 0 - probably_damaging(0.989) tolerated(0.19) deleterious(0.489) NULL ACYP2 98 genome.wustl.edu 37 2 54531900 54531900 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138448.3 +1 reviewed p.I87 1.000 58 0% 65 47.7% 12 25% - - - HMMPfam_Acylphosphatase,superfamily_Acylphosphatase SPTBN1 6711 genome.wustl.edu 37 2 54845245 54845245 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003128.2 +1 reviewed p.K226N 1.000 115 0% 55 47.3% 13 61.5% possibly_damaging(0.494) tolerated(0.06) deleterious(0.487) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain EML6 400954 genome.wustl.edu 37 2 55077148 55077148 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039753.2 +1 validated p.E413* 1.000 84 0% 87 46% 0 - - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,superfamily_WD40 repeat-like RTN4 57142 genome.wustl.edu 37 2 55253758 55253758 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020532.4 -1 reviewed p.D493N 0.998 176 0% 130 40.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C2orf63 130162 genome.wustl.edu 37 2 55433435 55433435 + Missense_Mutation SNP C C T rs188020276 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152385.2 -1 validated p.R326Q 0.997 299 0% 128 37.5% 0 - benign(0.286) tolerated(0.43) neutral(0.101) superfamily_ARM repeat MTIF2 4528 genome.wustl.edu 37 2 55464459 55464459 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005369.1 -1 reviewed p.F659C 1.000 302 0.3% 235 41.7% 40 42.5% benign(0.093) deleterious(0) neutral(0.452) superfamily_Translat_factor MTIF2 4528 genome.wustl.edu 37 2 55479763 55479763 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005369.1 -1 reviewed p.T231A 1.000 130 0% 49 51% 20 50% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_GTP_EFTU,superfamily_SSF52540 CCDC88A 55704 genome.wustl.edu 37 2 55544775 55544775 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135597.1 -1 validated p.S1175Y 1.000 74 0% 91 51.6% 1 100% possibly_damaging(0.658) deleterious(0.04) deleterious(0.582) NULL CCDC88A 55704 genome.wustl.edu 37 2 55561700 55561700 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135597.1 -1 validated p.R753C 1.000 163 0.6% 238 40.3% 1 100% benign(0.056) deleterious(0.04) neutral(0.352) NULL CCDC104 112942 genome.wustl.edu 37 2 55771106 55771106 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080667.5 +1 validated p.E225* 0.418 151 0% 90 45.6% 51 9.8% - - - NULL VRK2 7444 genome.wustl.edu 37 2 58312030 58312030 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130480.1 +1 reviewed p.N67K 1.000 28 0% 25 32% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) BCL11A 53335 genome.wustl.edu 37 2 60773255 60773255 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022893.3 -1 reviewed p.K79T 1.000 188 0% 224 12.1% 33 18.1% benign(0.291) deleterious(0.01) deleterious(0.495) NULL PAPOLG 64895 genome.wustl.edu 37 2 61010304 61010304 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022894.2 +1 reviewed p.L376V 0.994 90 0% 103 50.5% 10 10% benign(0.022) deleterious(0.03) neutral(0.365) HMMPfam_PAP_RNA-bind,superfamily_PAP/Archaeal CCA-adding enzyme C-terminal domain REL 5966 genome.wustl.edu 37 2 61149129 61149129 + Missense_Mutation SNP C C T rs144119768 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002908.2 +1 validated p.S440L 0.977 304 0% 55 16.4% 3 66.6% possibly_damaging(0.65) deleterious(0.01) deleterious(0.634) NULL PUS10 150962 genome.wustl.edu 37 2 61172245 61172245 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144709.2 -1 validated e16-2 1.000 207 0% 75 36% 0 - - - - - USP34 9736 genome.wustl.edu 37 2 61415609 61415609 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014709.3 -1 validated p.F3423L 1.000 112 0% 71 46.5% 92 47.8% benign(0.005) tolerated(0.09) neutral(0.296) NULL USP34 9736 genome.wustl.edu 37 2 61456737 61456737 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014709.3 -1 validated p.Q2382P 1.000 149 0% 96 47.9% 25 56% probably_damaging(0.993) - - NULL USP34 9736 genome.wustl.edu 37 2 61475811 61475811 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014709.3 -1 validated p.F2077L 1.000 117 0% 140 49.3% 19 36.8% probably_damaging(0.998) - - HMMPfam_UCH,superfamily_Cysteine proteinases USP34 9736 genome.wustl.edu 37 2 61558470 61558470 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014709.3 -1 validated p.F957L 1.000 182 0% 124 48.4% 8 25% probably_damaging(0.971) - - NULL USP34 9736 genome.wustl.edu 37 2 61632903 61632903 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014709.3 -1 validated p.I164M 1.000 220 0% 190 44.7% 4 50% benign(0.148) - - NULL XPO1 7514 genome.wustl.edu 37 2 61713062 61713062 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003400.3 -1 reviewed p.A783 0.996 126 0% 148 41.9% 113 40.7% - - - HMMPfam_CRM1_C,superfamily_ARM-type_fold XPO1 7514 genome.wustl.edu 37 2 61753593 61753593 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003400.3 -1 reviewed p.D64N 1.000 88 0% 145 42.1% 50 52% benign(0.228) tolerated(0.05) neutral(0.368) HMMPfam_IBN_N,superfamily_ARM-type_fold FAM161A 84140 genome.wustl.edu 37 2 62067001 62067001 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032180.2 -1 validated p.R380* 0.000 152 0% 113 50.4% 5 0% - - - HMMPfam_UPF0564 EHBP1 23301 genome.wustl.edu 37 2 62991476 62991476 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015252.3 +1 reviewed p.I80L 1.000 226 0% 65 16.9% 7 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL EHBP1 23301 genome.wustl.edu 37 2 63176090 63176090 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000454124 +1 known p.R8K 0.001 69 0% 54 44.4% 14 64.2% - - - NULL VPS54 51542 genome.wustl.edu 37 2 64140409 64140409 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016516.2 -1 reviewed p.G790 1.000 125 0% 77 45.5% 25 28% - - - HMMPfam_Vps54 SLC1A4 6509 genome.wustl.edu 37 2 65243799 65243799 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003038.3 +1 validated p.T342 0.998 116 0% 72 36.1% 23 52.1% - - - HMMPfam_SDF RAB1A 5861 genome.wustl.edu 37 2 65357036 65357036 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004161.4 -1 reviewed p.N5T 1.000 17 0% 11 36.4% 80 32.5% benign(0.001) tolerated(0.11) neutral(0.272) HMMSmart_SM00177 ETAA1 54465 genome.wustl.edu 37 2 67630496 67630496 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019002.3 +1 validated p.L228V 0.960 29 0% 18 33.3% 2 0% possibly_damaging(0.889) tolerated(0.42) neutral(0.363) NULL C1D 10438 genome.wustl.edu 37 2 68274400 68274400 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006333.3 -1 reviewed p.H15N 1.000 182 0% 82 34.1% 16 43.7% benign(0.024) tolerated(0.43) neutral(0.014) NULL PLEK 5341 genome.wustl.edu 37 2 68609717 68609717 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002664.2 +1 validated p.E142K 1.000 198 0% 70 32.9% 3 0% benign(0.373) tolerated(0.77) neutral(0.120) HMMPfam_DEP,HMMSmart_DEP,superfamily_SSF46785 PROKR1 10887 genome.wustl.edu 37 2 68882671 68882671 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138964.2 +1 validated p.P382H 0.982 126 0.8% 31 45.2% 0 - possibly_damaging(0.812) deleterious(0.01) deleterious(0.711) NULL GFPT1 2673 genome.wustl.edu 37 2 69575380 69575380 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002056.2 -1 reviewed p.R293Q 1.000 253 0% 71 46.5% 60 40% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SSF56235 ADD2 119 genome.wustl.edu 37 2 70900414 70900414 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017488.3 -1 reviewed p.E596K 0.000 70 0% 42 40.5% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL ADD2 119 genome.wustl.edu 37 2 70904956 70904956 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001617.3 -1 reviewed p.I479 0.993 304 0% 79 53.2% 0 - - - - NULL ADD2 119 genome.wustl.edu 37 2 70910753 70910753 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001617.3 -1 reviewed p.F365 0.937 81 0% 16 31.2% 1 0% - - - NULL CD207 50489 genome.wustl.edu 37 2 71058230 71058230 + Missense_Mutation SNP T T G rs57302492 byCluster;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015717.2 -1 validated p.K313T 0.000 302 0% 126 48.4% 0 - benign(0.001) tolerated(0.95) - HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1 CD207 50489 genome.wustl.edu 37 2 71060161 71060161 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015717.2 -1 validated p.S196Y 0.022 88 0% 103 53.4% 1 0% benign(0.058) tolerated(0.16) neutral(0.063) HMMSmart_CLECT MPHOSPH10 10199 genome.wustl.edu 37 2 71361770 71361770 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005791.1 +1 reviewed p.D314G 0.997 53 0% 67 52.2% 51 45% possibly_damaging(0.69) tolerated(0.17) neutral(0.306) HMMPfam_Mpp10 MPHOSPH10 10199 genome.wustl.edu 37 2 71376534 71376534 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005791.1 +1 reviewed p.S616L 0.014 63 0% 94 43.6% 64 60.9% benign(0.015) tolerated(0.65) neutral(0.004) HMMPfam_Mpp10 ZNF638 27332 genome.wustl.edu 37 2 71577200 71577200 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014972.1 +1 reviewed p.N372K 1.000 268 0% 76 50% 4 25% possibly_damaging(0.455) deleterious(0.02) deleterious(0.532) NULL ZNF638 27332 genome.wustl.edu 37 2 71591191 71591191 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014972.1 +1 reviewed p.R509Q 1.000 164 0% 76 43.4% 7 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF638 27332 genome.wustl.edu 37 2 71631009 71631009 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014972.1 +1 reviewed p.E947* 1.000 111 0% 51 45.1% 15 6.6% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZNF638 27332 genome.wustl.edu 37 2 71650697 71650697 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014972.1 +1 reviewed p.E1351D 0.997 26 0% 46 37% 30 80% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL DYSF 8291 genome.wustl.edu 37 2 71755462 71755462 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130987.1 +1 reviewed p.I437 1.000 133 0% 101 45.5% 0 - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CYP26B1 56603 genome.wustl.edu 37 2 72359673 72359673 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019885.2 -1 reviewed p.D408Y 1.000 18 0% 16 62.5% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMPfam_p450,superfamily_Cytochrome_P450 EXOC6B 23233 genome.wustl.edu 37 2 72719469 72719469 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015189.1 -1 validated p.R548M 1.000 159 0% 31 29% 9 44.4% possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) HMMPfam_Sec15 EXOC6B 23233 genome.wustl.edu 37 2 72945418 72945418 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015189.1 -1 validated p.K161N 0.997 201 0% 48 47.9% 9 33.3% possibly_damaging(0.739) deleterious(0) deleterious(0.715) NULL ALMS1 7840 genome.wustl.edu 37 2 73717276 73717276 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015120.4 +1 reviewed p.S2729 0.998 305 0% 143 44.1% 5 40% - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73747016 73747016 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015120.4 +1 reviewed p.I3217M 1.000 148 0% 147 30.6% 10 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL C2orf78 388960 genome.wustl.edu 37 2 74041091 74041091 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080474.1 +1 predicted p.N195K 0.984 189 0% 80 36.2% 0 - possibly_damaging(0.477) tolerated(0.06) deleterious(0.480) NULL C2orf78 388960 genome.wustl.edu 37 2 74041189 74041189 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080474.1 +1 predicted p.S228Y 0.954 86 0% 46 54.3% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL C2orf78 388960 genome.wustl.edu 37 2 74043886 74043886 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080474.1 +1 predicted p.L846I 0.396 182 0.5% 72 50% 0 - probably_damaging(0.99) tolerated(0.12) deleterious(0.702) NULL STAMBP 10617 genome.wustl.edu 37 2 74077533 74077533 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006463.3 +1 reviewed p.L300I 1.000 182 0% 52 48.1% 55 49% benign(0) tolerated(1) - HMMPfam_Mov34,HMMSmart_JAB_MPN,superfamily_SSF102712 MOB1A 55233 genome.wustl.edu 37 2 74399846 74399846 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018221.3 -1 provisional p.K16N 1.000 275 0% 258 50.4% 37 45.9% possibly_damaging(0.85) deleterious(0.05) deleterious(0.672) NULL MTHFD2 10797 genome.wustl.edu 37 2 74435777 74435777 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006636.3 +1 reviewed p.R164Q 1.000 650 0% 338 45% 50 68% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_THF_DHG_CYH_C,superfamily_NAD(P)-bd,superfamily_SSF53223 MTHFD2 10797 genome.wustl.edu 37 2 74441282 74441282 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006636.3 +1 reviewed p.K322N 1.000 72 0% 67 40.3% 65 13.8% probably_damaging(0.993) tolerated(0.05) deleterious(0.795) HMMPfam_THF_DHG_CYH_C,superfamily_NAD(P)-bd SLC4A5 57835 genome.wustl.edu 37 2 74491394 74491394 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021196.3 -1 reviewed p.L199F 0.882 215 0% 96 47.9% 0 - possibly_damaging(0.789) tolerated(0.67) neutral(0.298) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein RTKN 6242 genome.wustl.edu 37 2 74657611 74657611 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001015055.1 -1 reviewed p.E136D 0.839 335 0% 137 41.6% 20 50% probably_damaging(1) tolerated(0.8) deleterious(0.500) NULL INO80B 83444 genome.wustl.edu 37 2 74682538 74682538 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031288.2 +1 validated p.A22T 0.988 84 1.2% 144 44.4% 20 45% benign(0) tolerated(0.4) neutral(0.016) NULL AUP1 550 genome.wustl.edu 37 2 74755126 74755126 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181575.3 -1 reviewed p.R227C 0.764 93 0% 58 56.9% 260 45.7% benign(0.339) deleterious(0.03) deleterious(0.471) NULL HTRA2 27429 genome.wustl.edu 37 2 74760030 74760030 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013247.4 +1 reviewed p.R432Q 1.000 236 0.4% 117 48.7% 44 50% probably_damaging(0.982) tolerated(0.18) deleterious(0.482) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like DOK1 1796 genome.wustl.edu 37 2 74781924 74781924 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001381.2 +1 reviewed p.Q15K 1.000 37 0% 46 45.7% 5 20% probably_damaging(0.963) tolerated(0.09) deleterious(0.702) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like GCFC2 6936 genome.wustl.edu 37 2 75907416 75907416 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003203.4 -1 validated p.P572H 1.000 188 0% 175 41.7% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCFC LRRTM4 80059 genome.wustl.edu 37 2 77745828 77745828 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134745.1 -1 validated p.I389 0.014 305 0% 56 53.6% 0 - - - - NULL LRRTM4 80059 genome.wustl.edu 37 2 77745922 77745922 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134745.1 -1 validated p.N358T 0.298 205 0% 31 45.2% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL LRRTM1 347730 genome.wustl.edu 37 2 80530159 80530159 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178839.4 -1 validated p.D262 1.000 50 0% 26 57.7% 174 54.5% - - - HMMPfam_LRR_1,superfamily_SSF52058 CTNNA2 1496 genome.wustl.edu 37 2 80874784 80874784 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004389.3 +1 validated p.S835 0.988 171 0% 27 40.7% 45 37.7% - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin SUCLG1 8802 genome.wustl.edu 37 2 84676846 84676847 + Frame_Shift_Ins INS - - AGGAACAATGC novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003849.3 -1 reviewed p.Y43fs 0.997:1.000 - - - - - - - - - superfamily_NAD(P)-bd DNAH6 1768 genome.wustl.edu 37 2 84932810 84932810 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001370.1 +1 validated p.D2889G 1.000 181 0% 98 44.9% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL DNAH6 1768 genome.wustl.edu 37 2 84934721 84934721 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001370.1 +1 validated p.R2977* 1.000 180 0.6% 82 52.4% 0 - - - - NULL TGOLN2 10618 genome.wustl.edu 37 2 85553825 85553825 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006464.2 -1 validated p.E344* 0.114 73 0% 62 64.5% 25 16% - - - NULL ST3GAL5 8869 genome.wustl.edu 37 2 86067399 86067399 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003896.3 -1 reviewed p.F375 0.950 358 0.3% 109 49.5% 12 50% - - - HMMPfam_Glyco_transf_29 POLR1A 25885 genome.wustl.edu 37 2 86305317 86305317 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015425.3 -1 validated p.R393S 1.000 167 0.6% 144 46.5% 8 75% probably_damaging(0.97) tolerated(0.84) neutral(0.413) HMMSmart_SM00663,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase IMMT 10989 genome.wustl.edu 37 2 86406607 86406607 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006839.2 -1 validated p.F86 1.000 149 0% 78 43.6% 40 47.5% - - - HMMPfam_Mitofilin KDM3A 55818 genome.wustl.edu 37 2 86709073 86709073 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018433.5 +1 reviewed p.I845L 0.772 244 0% 107 43% 66 50% benign(0.001) tolerated(0.36) neutral(0.020) NULL LOC440871 440871 genome.wustl.edu 37 2 87566149 87566149 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001719095.2 +1 model p.N114S 0.000 222 0% 275 34.5% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set C2orf51 200523 genome.wustl.edu 37 2 88828984 88828984 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152670.2 +1 validated p.Y179D 1.000 74 0% 18 44.4% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL EIF2AK3 9451 genome.wustl.edu 37 2 88874238 88874238 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004836.5 -1 reviewed p.I921 0.477 288 0% 75 44% 37 40.5% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EIF2AK3 9451 genome.wustl.edu 37 2 88913339 88913339 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004836.5 -1 reviewed p.R114I 0.996 193 0% 69 49.3% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Quinoprotein alcohol dehydrogenase-like IGKV1-5 28299 genome.wustl.edu 37 2 89246820 89246820 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000496168 -1 known p.S117Y 0.279 232 0% 187 38.5% 6 0% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMSmart_SM00409,superfamily_Immunoglobulin IGKV1-8 28942 genome.wustl.edu 37 2 89292139 89292139 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000495489 -1 known p.A45V 0.054 266 0% 175 46.9% 24 0% benign(0.008) deleterious(0) neutral(0.445) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1-12 28940 genome.wustl.edu 37 2 89339806 89339806 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000480492 -1 known p.S89Y 0.993 607 0% 189 39.2% 4 0% benign(0.033) deleterious(0.03) neutral(0.366) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1-12 28940 genome.wustl.edu 37 2 89340006 89340006 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000480492 -1 known p.C22 0.001 467 0.4% 133 36.8% 15 0% - - - NULL IGKV2-28 28921 genome.wustl.edu 37 2 89521316 89521316 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000482769 -1 known p.L75V 0.000 161 0% 101 30.7% 157 0% benign(0) tolerated(0.52) neutral(0.009) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1-33 28933 genome.wustl.edu 37 2 89568182 89568182 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000473726 -1 known p.L17 0.540 103 0% 75 68% 42 0% - - - NULL IGKV1D-13 28902 genome.wustl.edu 37 2 90193393 90193393 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390275 +1 known p.T107N 0.004 526 0% 149 28.9% 0 - benign(0.081) tolerated(0.08) neutral(0.306) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGKV1D-42 28892 genome.wustl.edu 37 2 90229404 90229404 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390278 +1 known p.D75G 0.000 159 0% 79 54.4% 0 - benign(0.01) deleterious(0.05) neutral(0.346) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 LOC100131662 100131662 genome.wustl.edu 37 2 95691459 95691459 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_078259.1 -1 model NULL 0.872 15 0% 29 31% 0 - - - - - MRPS5 64969 genome.wustl.edu 37 2 95775714 95775714 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031902.3 -1 reviewed p.R117I 1.000 120 0% 127 52.8% 40 45% probably_damaging(0.975) tolerated(0.06) deleterious(0.740) NULL ADRA2B 151 genome.wustl.edu 37 2 96781615 96781615 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000409345 -1 known p.D92N 1.000 50 0% 24 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NCAPH 23397 genome.wustl.edu 37 2 97007580 97007580 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015341.3 +1 reviewed p.D74Y 1.000 53 0% 39 41% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Barren ARID5A 10865 genome.wustl.edu 37 2 97217943 97217943 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_212481.1 +1 validated p.D560Y 0.695 14 0% 11 54.5% 21 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FER1L5 90342 genome.wustl.edu 37 2 97365350 97365350 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113382.1 +1 provisional p.F1585 1.000 99 0% 98 39.8% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ANKRD36 375248 genome.wustl.edu 37 2 97875579 97875579 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000461153 +1 known p.E943* 0.003 419 0% 131 31.3% 0 - - - - NULL ANKRD36B 57730 genome.wustl.edu 37 2 98206003 98206003 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000258459 -1 known p.R49I 0.029 54 0% 129 55.8% 5 20% - - - HMMPfam_Ank,superfamily_Ankyrin repeat TMEM131 23505 genome.wustl.edu 37 2 98451268 98451268 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015348.1 -1 validated p.I309V 1.000 289 0% 187 41.7% 6 66.6% benign(0.009) tolerated(0.73) neutral(0.002) NULL VWA3B 200403 genome.wustl.edu 37 2 98828405 98828405 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144992.4 +1 provisional p.T584A 1.000 63 0% 69 46.4% 0 - probably_damaging(0.953) tolerated(0.27) neutral(0.430) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like VWA3B 200403 genome.wustl.edu 37 2 98844737 98844737 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144992.4 +1 provisional p.Y698D 0.243 182 0% 98 42.9% 0 - probably_damaging(0.988) tolerated(0.21) deleterious(0.481) NULL CNGA3 1261 genome.wustl.edu 37 2 99012980 99012980 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001298.2 +1 reviewed p.K449N 1.000 77 0% 45 35.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_cNMP_binding INPP4A 3631 genome.wustl.edu 37 2 99136536 99136536 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134224.1 +1 reviewed p.R9C 1.000 41 0% 14 35.7% 5 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL INPP4A 3631 genome.wustl.edu 37 2 99137182 99137182 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134224.1 +1 reviewed p.E47* 1.000 63 0% 159 42.8% 2 0% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) INPP4A 3631 genome.wustl.edu 37 2 99204034 99204034 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134224.1 +1 reviewed p.R966M 1.000 104 0% 134 47.8% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UNC50 25972 genome.wustl.edu 37 2 99226441 99226441 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014044.5 +1 validated p.T73 0.008 55 0% 54 55.6% 41 31.7% - - - HMMPfam_UNC-50 MGAT4A 11320 genome.wustl.edu 37 2 99294883 99294883 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012214.2 -1 reviewed p.R49Q 1.000 142 0% 95 45.3% 0 - possibly_damaging(0.477) tolerated(0.24) neutral(0.195) NULL C2orf55 343990 genome.wustl.edu 37 2 99411032 99411032 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207362.2 -1 validated p.S951Y 1.000 76 0% 71 43.7% 5 60% unknown(0) deleterious(0) - NULL C2orf55 343990 genome.wustl.edu 37 2 99412590 99412590 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207362.2 -1 validated p.Q914H 1.000 213 0% 168 41.1% 10 50% unknown(0) deleterious(0) - NULL C2orf55 343990 genome.wustl.edu 37 2 99412605 99412605 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207362.2 -1 validated p.I909 0.998 206 0% 160 43.1% 9 33.3% - - - NULL TSGA10 80705 genome.wustl.edu 37 2 99720436 99720436 + Missense_Mutation SNP G G T rs140899327 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025244.2 -1 validated p.S202Y 1.000 653 0.2% 300 43.3% 4 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL LIPT1 51601 genome.wustl.edu 37 2 99778496 99778496 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015929.3 +1 reviewed p.K26Q 0.009 68 0% 82 37.8% 7 28.5% benign(0) tolerated(0.1) neutral(0.286) NULL MITD1 129531 genome.wustl.edu 37 2 99787986 99787986 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138798.1 -1 provisional p.R126I 1.000 110 0% 80 41.2% 34 55.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LYG2 254773 genome.wustl.edu 37 2 99861811 99861811 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175735.3 -1 reviewed p.A99T 0.994 289 0% 61 42.6% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_SLT,superfamily_SSF53955 LYG1 129530 genome.wustl.edu 37 2 99901197 99901197 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174898.2 -1 validated p.E140D 0.997 117 0% 78 35.9% 0 - probably_damaging(0.985) tolerated(0.58) neutral(0.437) superfamily_Lysozyme-like TXNDC9 10190 genome.wustl.edu 37 2 99938453 99938453 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005783.3 -1 reviewed p.E176D 0.752 73 0% 140 10.7% 62 16.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Thiordxn-like_fd REV1 51455 genome.wustl.edu 37 2 100037986 100037986 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016316.2 -1 reviewed p.T602 0.208 370 0% 120 48.3% 9 22.2% - - - HMMPfam_IMS,superfamily_DNA/RNA polymerases AFF3 3899 genome.wustl.edu 37 2 100623773 100623773 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001025108.1 -1 reviewed p.I133 0.000 229 0% 123 50.4% 1 100% - - - HMMPfam_AF-4 CHST10 9486 genome.wustl.edu 37 2 101010011 101010011 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004854.3 -1 validated p.F256C 1.000 486 0% 155 12.9% 20 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_2 NPAS2 4862 genome.wustl.edu 37 2 101521208 101521208 + Nonstop_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000427413 +1 known p.*63Y 1.000 41 0% 31 45.2% 2 0% - - - NULL IL1RL1 9173 genome.wustl.edu 37 2 102965631 102965631 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016232.4 +1 reviewed p.I404L 1.000 559 0% 179 46.9% 0 - possibly_damaging(0.769) tolerated(0.49) neutral(0.296) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain IL18RAP 8807 genome.wustl.edu 37 2 103059738 103059738 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003853.2 +1 reviewed p.K292R 0.000 142 0% 79 49.4% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMSmart_SM00409,superfamily_Immunoglobulin IL18RAP 8807 genome.wustl.edu 37 2 103068577 103068577 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003853.2 +1 reviewed p.F579C 0.000 91 0% 47 46.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC9A2 6549 genome.wustl.edu 37 2 103300696 103300696 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003048.3 +1 validated p.C442 0.986 551 0% 244 36.9% 0 - - - - HMMPfam_Na_H_Exchanger SLC9A2 6549 genome.wustl.edu 37 2 103321094 103321094 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003048.3 +1 validated p.E646G 0.991 182 0% 52 36.5% 1 0% benign(0.007) deleterious(0.02) neutral(0.383) NULL TMEM182 130827 genome.wustl.edu 37 2 103379070 103379070 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144632.3 +1 validated p.E53* 1.000 291 0% 138 49.3% 6 50% - - - NULL UXS1 80146 genome.wustl.edu 37 2 106774521 106774521 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025076.3 -1 validated p.R90I 1.000 401 0% 298 45.3% 16 62.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_NAD(P)-binding Rossmann-fold domains RGPD3 653489 genome.wustl.edu 37 2 107032360 107032360 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144013.1 -1 validated p.N1670K 1.000 629 0% 270 37% 5 20% unknown(0) deleterious(0) - NULL RGPD3 653489 genome.wustl.edu 37 2 107041369 107041369 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144013.1 -1 validated p.S1018 0.009 103 0% 116 39.7% 11 0% - - - NULL RGPD3 653489 genome.wustl.edu 37 2 107049685 107049685 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144013.1 -1 validated p.L754 0.954 415 0% 406 26.8% 0 - - - - NULL ST6GAL2 84620 genome.wustl.edu 37 2 107449027 107449027 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142351.1 -1 validated p.L379 0.741 83 0% 41 48.8% 0 - - - - HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase RGPD4 285190 genome.wustl.edu 37 2 108475968 108475968 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182588.2 +1 validated p.S531Y 0.695 375 0% 418 23.7% 0 - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL RGPD4 285190 genome.wustl.edu 37 2 108487762 108487762 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182588.2 +1 validated p.R1101Q 1.000 88 0% 64 48.4% 0 - probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RGPD4 285190 genome.wustl.edu 37 2 108488674 108488674 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182588.2 +1 validated p.L1405R 1.000 163 0% 118 47.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 SULT1C2 6819 genome.wustl.edu 37 2 108917369 108917369 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176825.2 +1 reviewed p.S129Y 0.843 255 0% 121 45.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases GCC2 9648 genome.wustl.edu 37 2 109087091 109087091 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181453.3 +1 reviewed p.E436* 1.000 10 0% 20 55% 2 100% - - - NULL GCC2 9648 genome.wustl.edu 37 2 109116104 109116104 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181453.3 +1 reviewed p.F1626 1.000 1190 0% 1129 20.2% 31 41.9% - - - HMMPfam_GRIP,HMMSmart_Grip RANBP2 5903 genome.wustl.edu 37 2 109399206 109399206 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006267.4 +1 reviewed p.S3086* 1.000 87 0% 85 45.9% 78 25.6% - - - HMMPfam_Pro_isomerase,superfamily_CSA_PPIase CCDC138 165055 genome.wustl.edu 37 2 109490001 109490001 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144978.1 +1 provisional p.I596M 0.932 55 0% 44 47.7% 3 100% possibly_damaging(0.559) deleterious(0.02) deleterious(0.574) NULL SEPT10 151011 genome.wustl.edu 37 2 110310693 110310693 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144710.2 -1 reviewed p.E378* 1.000 839 0% 315 40.6% 16 12.5% - - - NULL BUB1 699 genome.wustl.edu 37 2 111399707 111399707 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004336.3 -1 reviewed p.F818V 0.991 131 0% 123 48.8% 26 15.3% benign(0) tolerated(0.76) neutral(0.001) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP BUB1 699 genome.wustl.edu 37 2 111415133 111415133 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004336.3 -1 reviewed p.E536* 1.000 173 0% 60 45% 16 6.2% - - - NULL ANAPC1 64682 genome.wustl.edu 37 2 112536335 112536335 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022662.2 -1 validated p.L1768M 1.000 218 0% 97 23.7% 15 6.6% benign(0.313) tolerated(0.6) neutral(0.102) NULL ANAPC1 64682 genome.wustl.edu 37 2 112576515 112576515 + Missense_Mutation SNP C C T rs2674122 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022662.2 -1 validated p.R1076Q 1.000 129 0% 63 25.4% 12 8.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANAPC1 64682 genome.wustl.edu 37 2 112601135 112601135 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022662.2 -1 validated p.E632* 1.000 454 0% 295 47.8% 4 25% - - - NULL MERTK 10461 genome.wustl.edu 37 2 112767624 112767624 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006343.2 +1 reviewed p.R687Q 1.000 297 0.7% 260 45.8% 24 20.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like TMEM87B 84910 genome.wustl.edu 37 2 112824592 112824592 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032824.2 +1 validated p.K133R 0.999 141 0% 146 50.7% 9 66.6% possibly_damaging(0.862) tolerated(0.66) neutral(0.336) NULL FBLN7 129804 genome.wustl.edu 37 2 112922646 112922646 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153214.2 +1 validated p.E102K 0.999 80 0% 69 53.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ZC3H6 376940 genome.wustl.edu 37 2 113057436 113057436 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198581.2 +1 validated p.E15K 1.000 58 0% 104 44.2% 0 - unknown(0) deleterious(0) - NULL ZC3H6 376940 genome.wustl.edu 37 2 113057501 113057501 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198581.2 +1 validated p.E36D 1.000 74 0% 145 11.7% 1 0% unknown(0) tolerated(0.29) - NULL TTL 150465 genome.wustl.edu 37 2 113251909 113251909 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153712.4 +1 validated p.G142 0.994 75 0% 38 52.6% 23 52.1% - - - HMMPfam_TTL POLR1B 84172 genome.wustl.edu 37 2 113308539 113308539 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019014.4 +1 validated p.R241Q 1.000 497 0% 315 39.7% 7 57.1% benign(0.008) tolerated(0.07) neutral(0.319) HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1B 84172 genome.wustl.edu 37 2 113309453 113309453 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019014.4 +1 validated p.I288 0.861 279 0% 139 47.5% 7 14.2% - - - HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1B 84172 genome.wustl.edu 37 2 113315587 113315587 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019014.4 +1 validated p.F420C 0.996 187 0% 159 44.7% 13 69.2% possibly_damaging(0.654) tolerated(0.07) deleterious(0.549) superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1B 84172 genome.wustl.edu 37 2 113322060 113322060 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019014.4 +1 validated p.S577Y 0.775 700 0% 185 43.8% 10 30% unknown(0) - - HMMPfam_RNA_pol_Rpa2_4,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase CHCHD5 84269 genome.wustl.edu 37 2 113343816 113343816 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032309.2 +1 provisional p.P61 0.871 96 0% 27 51.9% 43 0% - - - HMMPfam_CHCH SLC20A1 6574 genome.wustl.edu 37 2 113417110 113417110 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005415.3 +1 provisional p.R460* 1.000 61 0% 59 40.7% 50 20% - - - HMMPfam_PHO4 CKAP2L 150468 genome.wustl.edu 37 2 113513557 113513557 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152515.3 -1 validated p.R464Q 1.000 190 0% 241 46.1% 15 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CKAP2L 150468 genome.wustl.edu 37 2 113514241 113514241 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152515.3 -1 validated p.V236A 0.065 184 0% 205 47.3% 8 25% benign(0.001) tolerated(0.87) neutral(0.001) NULL CKAP2L 150468 genome.wustl.edu 37 2 113514368 113514368 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152515.3 -1 validated p.E194K 0.004 239 0% 283 41% 6 83.3% benign(0) tolerated(0.76) neutral(0.001) NULL IL36B 27177 genome.wustl.edu 37 2 113785641 113785641 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173178.1 -1 reviewed p.L105I 0.952 236 0% 83 45.8% 0 - possibly_damaging(0.62) tolerated(0.34) neutral(0.239) HMMPfam_IL1,HMMSmart_SM00125,superfamily_Cytokine IL36B 27177 genome.wustl.edu 37 2 113786569 113786569 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014438.3 -1 reviewed p.D70Y 0.000 468 0% 145 44.8% 0 - possibly_damaging(0.753) deleterious(0.03) deleterious(0.641) superfamily_Cytokine PSD4 23550 genome.wustl.edu 37 2 113955139 113955139 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012455.2 +1 validated e12-2 0.993 136 0% 60 48.3% 0 - - - - - LOC645529 645529 genome.wustl.edu 37 2 114425566 114425566 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001716670.2 -1 model p.S186 0.005 28 0% 21 57.1% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases DPP10 57628 genome.wustl.edu 37 2 116572517 116572517 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020868.3 +1 validated p.R617* 1.000 119 0% 135 52.6% 0 - - - - HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases CCDC93 54520 genome.wustl.edu 37 2 118698785 118698785 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019044.3 -1 validated p.F501C 1.000 374 0% 77 37.7% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC93 54520 genome.wustl.edu 37 2 118698788 118698788 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019044.3 -1 validated p.R500I 1.000 379 0% 78 53.8% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCDP1 200373 genome.wustl.edu 37 2 120395904 120395904 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029996.3 +1 validated p.L396I 0.989 323 0% 91 46.2% 3 66.6% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL PCDP1 200373 genome.wustl.edu 37 2 120413984 120413984 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029996.3 +1 validated p.L535 0.972 167 0% 50 54% 5 20% - - - NULL PTPN4 5775 genome.wustl.edu 37 2 120692378 120692378 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002830.2 +1 reviewed p.R400Q 1.000 148 0% 188 41.5% 3 66.6% benign(0.033) tolerated(0.08) neutral(0.301) NULL GLI2 2736 genome.wustl.edu 37 2 121744029 121744029 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005270.4 +1 reviewed p.A711V 0.004 22 0% 18 55.6% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL TFCP2L1 29842 genome.wustl.edu 37 2 122004483 122004483 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014553.2 -1 validated p.R190* 1.000 177 0% 62 48.4% 12 33.3% - - - HMMPfam_CP2 CLASP1 23332 genome.wustl.edu 37 2 122220106 122220106 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015282.2 -1 validated e9+2 1.000 281 0% 96 37.5% 1 100% - - - - CNTNAP5 129684 genome.wustl.edu 37 2 125521351 125521351 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130773.2 +1 reviewed p.I778 0.999 315 0% 55 38.2% 0 - - - - superfamily_ConA_like_lec_gl CNTNAP5 129684 genome.wustl.edu 37 2 125671838 125671838 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130773.2 +1 reviewed p.S1298 1.000 287 0% 55 47.3% 0 - - - - NULL MAP3K2 10746 genome.wustl.edu 37 2 128075798 128075798 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006609.3 -1 reviewed p.E381* 1.000 111 0% 52 38.5% 14 21.4% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase IWS1 55677 genome.wustl.edu 37 2 128262267 128262267 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017969.2 -1 validated p.E404D 0.997 324 0% 284 42.6% 56 32.1% benign(0.001) tolerated(0.39) neutral(0.016) NULL MYO7B 4648 genome.wustl.edu 37 2 128391852 128391852 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080527.1 +1 provisional p.K1845N 1.000 10 0% 17 52.9% 0 - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMSmart_SM00295 GPR17 2840 genome.wustl.edu 37 2 128408376 128408376 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005291.2 +1 validated p.C51G 0.995 31 0% 72 11.1% 0 - unknown(0) deleterious(0) - superfamily_Family A G protein-coupled receptor-like WDR33 55339 genome.wustl.edu 37 2 128482778 128482778 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018383.3 -1 reviewed p.K288I 1.000 133 0% 135 48.1% 19 57.8% unknown(0) deleterious(0) - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 POLR2D 5433 genome.wustl.edu 37 2 128610503 128610503 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004805.3 -1 reviewed p.R84C 1.000 130 0% 173 43.4% 17 47% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb4,HMMSmart_SM00657,superfamily_HRDC-like SAP130 79595 genome.wustl.edu 37 2 128700009 128700009 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024545.3 -1 validated p.E993K 1.000 672 0% 338 45.9% 35 42.8% possibly_damaging(0.806) deleterious(0.01) deleterious(0.709) NULL UGGT1 56886 genome.wustl.edu 37 2 128910431 128910431 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020120.3 +1 validated p.S697Y 1.000 146 0% 105 43.8% 24 25% possibly_damaging(0.652) deleterious(0.03) deleterious(0.594) NULL UGGT1 56886 genome.wustl.edu 37 2 128930179 128930179 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020120.3 +1 validated p.S1046Y 1.000 313 0.3% 186 43.5% 28 50% benign(0.055) tolerated(1) neutral(0.004) HMMPfam_UDP-g_GGTase RAB6C 84084 genome.wustl.edu 37 2 130737834 130737834 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032144.2 +1 validated p.D49G 1.000 667 0% 350 33.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 RAB6C 84084 genome.wustl.edu 37 2 130737977 130737977 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032144.2 +1 validated p.N97H 1.000 961 0% 367 38.7% 18 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 SMPD4 55627 genome.wustl.edu 37 2 130912814 130912814 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000457039 -1 known p.E71* 1.000 54 0% 45 42.2% 78 53.8% possibly_damaging(0.744) tolerated(0.15) deleterious(0.514) NULL LOC653781 653781 genome.wustl.edu 37 2 131414244 131414244 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_929706.3 +1 model p.K637N 0.024 94 0% 216 22.2% 0 - possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL LOC653781 653781 genome.wustl.edu 37 2 131414507 131414507 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_929706.3 +1 model p.R725I 1.000 86 0% 116 31.9% 0 - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain FAM123C 205147 genome.wustl.edu 37 2 131520122 131520122 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105193.1 +1 validated p.C159* 0.993 8 0.000 17 0.647 0 - - - - HMMPfam_WTX ARHGEF4 50649 genome.wustl.edu 37 2 131785559 131785559 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015320.2 +1 reviewed p.E157K 0.993 18 0% 22 45.5% 0 - possibly_damaging(0.758) deleterious(0.01) deleterious(0.686) NULL POTEE 445582 genome.wustl.edu 37 2 132010494 132010494 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083538.1 +1 validated p.E534* 0.012 960 0% 369 27.1% 0 - - - - NULL POTEE 445582 genome.wustl.edu 37 2 132021121 132021121 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083538.1 +1 validated p.E698G 0.987 77 0% 149 49% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL LOC150786 150786 genome.wustl.edu 37 2 132121128 132121128 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077637.1 -1 validated p.Y56H 1.000 648 0% 317 34.4% 0 - - - - HMMSmart_RAB,HMMPfam_Ras,PatternScan_BACTERIAL_OPSIN_RET,superfamily_SSF52540 TUBA3D 113457 genome.wustl.edu 37 2 132240410 132240410 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080386.2 +1 validated p.E448K 0.999 144 0% 141 46.8% 1 100% benign(0) deleterious(0.01) neutral(0.406) NULL ZNF806 646915 genome.wustl.edu 37 2 133074786 133074786 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001724242.2 +1 model p.L83V 0.003 57 0% 67 28.4% 0 - - - - NULL ZNF806 646915 genome.wustl.edu 37 2 133075962 133075962 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001724242.2 +1 model p.E475* 1.000 171 0% 122 15.6% 0 - - - - NULL NCKAP5 344148 genome.wustl.edu 37 2 133547619 133547619 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207363.2 -1 validated p.D357N 1.000 249 0% 48 45.8% 1 0% benign(0.049) deleterious(0.04) neutral(0.352) NULL NCKAP5 344148 genome.wustl.edu 37 2 133887571 133887571 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207363.2 -1 validated p.S107N 0.433 199 0% 36 58.3% 2 50% possibly_damaging(0.527) deleterious(0.04) deleterious(0.527) NULL NCKAP5 344148 genome.wustl.edu 37 2 133971307 133971307 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000427594 -1 known p.E59* 0.993 208 0% 41 41.5% 2 50% benign(0.033) deleterious(0) neutral(0.446) NULL MGAT5 4249 genome.wustl.edu 37 2 135107416 135107416 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002410.3 +1 validated p.E385K 1.000 279 0% 60 48.3% 25 56% possibly_damaging(0.942) tolerated(0.33) neutral(0.411) NULL YSK4 80122 genome.wustl.edu 37 2 135744243 135744243 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025052.3 -1 validated p.K733 0.998 66 0% 60 31.7% 0 - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135749143 135749143 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025052.3 -1 validated p.S194 0.005 123 0% 150 40.7% 0 - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135757538 135757538 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025052.3 -1 validated p.E95* 1.000 388 0% 345 39.4% 0 - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135782210 135782210 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025052.3 -1 validated p.S3Y 1.000 117 0% 500 45.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZRANB3 84083 genome.wustl.edu 37 2 135988495 135988495 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032143.2 -1 provisional p.F514 0.998 88 0% 98 51% 3 66.6% - - - NULL R3HDM1 23518 genome.wustl.edu 37 2 136362499 136362499 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000456040 +1 known p.E25G 1.000 42 0% 101 48.5% 16 43.7% - - - NULL LCT 3938 genome.wustl.edu 37 2 136548294 136548294 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002299.2 -1 reviewed p.E1757K 0.953 277 0% 157 43.9% 0 - benign(0.07) tolerated(0.51) neutral(0.014) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136558293 136558293 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002299.2 -1 reviewed p.D1584N 0.890 68 0% 59 42.4% 0 - possibly_damaging(0.92) tolerated(0.18) neutral(0.427) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat THSD7B 80731 genome.wustl.edu 37 2 138030122 138030122 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080427.1 +1 provisional p.Q731H 1.000 280 0% 53 26.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7B 80731 genome.wustl.edu 37 2 138373881 138373881 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080427.1 +1 provisional p.L1158R 0.998 170 0% 28 21.4% 0 - possibly_damaging(0.921) deleterious(0) deleterious(0.816) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat NXPH2 11249 genome.wustl.edu 37 2 139428991 139428991 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007226.2 -1 validated p.R99Q 1.000 372 0% 152 42.8% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Neurexophilin LRP1B 53353 genome.wustl.edu 37 2 141526904 141526904 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018557.2 -1 validated p.S1879* 1.000 88 1.1% 26 23.1% 0 - - - - superfamily_SSF57196,superfamily_SSF63825 KYNU 8942 genome.wustl.edu 37 2 143798107 143798107 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003937.2 +1 reviewed p.K384N 0.144 214 0% 34 41.2% 5 0% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases GTDC1 79712 genome.wustl.edu 37 2 144966241 144966241 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001006636.3 -1 validated p.K36N 1.000 145 0% 41 46.3% 33 48.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZEB2 9839 genome.wustl.edu 37 2 145157643 145157643 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014795.3 -1 reviewed p.N371D 1.000 155 0% 88 39.8% 0 - benign(0.001) tolerated(0.27) neutral(0.034) NULL ZEB2 9839 genome.wustl.edu 37 2 145274906 145274906 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014795.3 -1 reviewed p.P4 1.000 134 0% 84 47.6% 1 0% - - - NULL MBD5 55777 genome.wustl.edu 37 2 149227747 149227747 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018328.4 +1 reviewed p.N745K 1.000 108 0% 31 45.2% 7 57.1% unknown(0) tolerated(0.06) - NULL MBD5 55777 genome.wustl.edu 37 2 149240764 149240764 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000416015 +1 known p.A608V 0.882 247 0% 69 44.9% 6 66.6% - - - NULL MBD5 55777 genome.wustl.edu 37 2 149243368 149243368 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018328.4 +1 reviewed p.S968L 1.000 45 0% 30 63.3% 8 37.5% unknown(0) deleterious(0.05) - NULL EPC2 26122 genome.wustl.edu 37 2 149528402 149528402 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015630.3 +1 validated p.E424 0.730 223 0% 148 44.6% 19 42.1% - - - NULL EPC2 26122 genome.wustl.edu 37 2 149543944 149543944 + Nonstop_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015630.3 +1 validated p.*808Q 1.000 279 0% 99 46.5% 28 50% - - - NULL KIF5C 3800 genome.wustl.edu 37 2 149818537 149818537 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000435030 +1 known p.E341* 1.000 121 0% 137 43.1% 1 0% - - - NULL KIF5C 3800 genome.wustl.edu 37 2 149837886 149837886 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000435030 +1 known p.R460 0.996 159 0% 40 47.5% 0 - - - - NULL KIF5C 3800 genome.wustl.edu 37 2 149854983 149854983 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000435030 +1 known p.E724K 1.000 89 0% 33 33.3% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL LYPD6B 130576 genome.wustl.edu 37 2 150064872 150064872 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_177964.3 +1 provisional p.A92T 1.000 194 0% 150 44% 2 50% possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) HMMSmart_LU,superfamily_SSF57302 NMI 9111 genome.wustl.edu 37 2 152128218 152128218 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004688.2 -1 reviewed p.E221D 0.726 188 0% 224 42.9% 31 48.3% benign(0.002) tolerated(0.71) neutral(0.002) HMMPfam_NID RIF1 55183 genome.wustl.edu 37 2 152311665 152311665 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018151.4 +1 reviewed p.E867D 1.000 71 0% 75 52% 2 0% probably_damaging(0.975) deleterious(0.04) deleterious(0.766) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152317676 152317676 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018151.4 +1 reviewed p.K1034Q 0.494 68 0% 87 47.1% 6 66.6% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152357940 152357940 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000509223 -1 known p.E769K 1.000 174 0% 114 40.4% 0 - possibly_damaging(0.888) - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152359319 152359319 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000421461 -1 known p.E149* 0.997 138 0% 95 46.3% 0 - possibly_damaging(0.891) - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152363424 152363424 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004543.4 -1 reviewed p.S6151L 1.000 141 0% 110 42.7% 2 0% probably_damaging(0.999) - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152369286 152369286 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004543.4 -1 reviewed p.E6068D 1.000 229 0% 130 41.5% 1 0% benign(0.009) - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152376270 152376270 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004543.4 -1 reviewed p.E5797* 1.000 596 0.2% 306 40.5% 1 0% - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152384087 152384087 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004543.4 -1 reviewed p.K5549Q 1.000 171 0% 34 32.4% 1 100% probably_damaging(0.987) deleterious(0.04) deleterious(0.785) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152417609 152417609 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004543.4 -1 reviewed p.E4671V 1.000 401 0% 131 44.3% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152501079 152501079 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004543.4 -1 reviewed p.R2516Q 1.000 161 0% 125 48.8% 0 - benign(0.004) tolerated(0.06) neutral(0.323) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152521064 152521064 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004543.4 -1 reviewed p.D1801G 1.000 238 0% 97 45.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152553197 152553197 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004543.4 -1 reviewed p.S508Y 1.000 658 0% 291 44% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Nebulin,HMMSmart_SM00227 CACNB4 785 genome.wustl.edu 37 2 152733011 152733011 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000726.3 -1 reviewed p.F150L 1.000 136 0.7% 253 44.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH3-domain LOC100127920 100127920 genome.wustl.edu 37 2 152954955 152954955 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001715860.2 +1 model p.E34 0.996 25 0% 23 43.5% 0 - - - - NULL ARL6IP6 151188 genome.wustl.edu 37 2 153616395 153616395 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_024526.1 +1 validated NULL 0.245 127 0% 30 53.3% 34 35.2% - - - - KCNJ3 3760 genome.wustl.edu 37 2 155711564 155711564 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002239.2 +1 reviewed p.K415 1.000 73 0% 40 52.5% 0 - - - - NULL GALNT5 11227 genome.wustl.edu 37 2 158152297 158152297 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014568.1 +1 provisional p.D622Y 1.000 233 0% 164 51.8% 0 - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases ERMN 57471 genome.wustl.edu 37 2 158181230 158181230 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009959.1 -1 validated p.D109Y 1.000 172 0% 109 42.2% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL CCDC148 130940 genome.wustl.edu 37 2 159107421 159107421 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138803.3 -1 validated p.R372C 0.998 286 0% 62 41.9% 0 - benign(0.314) tolerated(0.12) neutral(0.359) NULL PKP4 8502 genome.wustl.edu 37 2 159477866 159477866 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003628.3 +1 reviewed p.S179* 1.000 218 0% 69 20.3% 10 0% - - - NULL TANC1 85461 genome.wustl.edu 37 2 160025809 160025809 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033394.2 +1 validated p.R332I 1.000 197 0% 100 18% 7 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WDSUB1 151525 genome.wustl.edu 37 2 160112755 160112755 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128212.1 -1 validated p.E362* 1.000 176 0% 150 46% 7 14.2% - - - HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 WDSUB1 151525 genome.wustl.edu 37 2 160136297 160136297 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128212.1 -1 validated p.C186 0.761 69 0% 77 40.3% 6 83.3% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 BAZ2B 29994 genome.wustl.edu 37 2 160176867 160176867 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013450.2 -1 validated p.F2139C 1.000 185 0% 105 55.2% 16 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 BAZ2B 29994 genome.wustl.edu 37 2 160310261 160310261 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013450.2 -1 validated p.S66L 1.000 204 0% 50 58% 6 33.3% possibly_damaging(0.462) tolerated(0.06) deleterious(0.474) NULL LY75 4065 genome.wustl.edu 37 2 160697387 160697387 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002349.2 -1 validated p.K1120N 0.665 178 0% 86 43% 9 44.4% probably_damaging(0.995) tolerated(0.66) neutral(0.460) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like LY75 4065 genome.wustl.edu 37 2 160755210 160755210 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002349.2 -1 validated p.Q152R 0.935 40 0% 27 48.1% 3 66.6% probably_damaging(0.99) tolerated(0.82) neutral(0.442) superfamily_Ricin B-like lectins PLA2R1 22925 genome.wustl.edu 37 2 160813075 160813075 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007366.3 -1 validated p.F990V 0.403 227 0% 65 46.2% 0 - benign(0.215) tolerated(1) neutral(0.021) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like PLA2R1 22925 genome.wustl.edu 37 2 160832605 160832605 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007366.3 -1 validated p.E857* 1.000 311 0% 88 43.2% 0 - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like PLA2R1 22925 genome.wustl.edu 37 2 160876648 160876648 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007366.3 -1 validated p.R474I 0.818 202 0% 59 50.8% 0 - benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ITGB6 3694 genome.wustl.edu 37 2 160964291 160964291 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000888.3 -1 provisional p.G723R 1.000 215 0% 80 42.5% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC4A10 57282 genome.wustl.edu 37 2 162660965 162660965 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022058.3 +1 reviewed p.R46Q 1.000 340 0% 41 46.3% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL SLC4A10 57282 genome.wustl.edu 37 2 162711620 162711620 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022058.3 +1 reviewed p.N186S 1.000 343 0% 86 46.5% 0 - benign(0.001) tolerated(1) - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A10 57282 genome.wustl.edu 37 2 162815051 162815051 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022058.3 +1 reviewed p.L920I 1.000 269 0% 149 49% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_HCO3_cotransp,PatternScan_HTH_ARAC_FAMILY_1 DPP4 1803 genome.wustl.edu 37 2 162870926 162870926 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001935.3 -1 reviewed p.K539N 1.000 149 0% 70 42.9% 6 50% possibly_damaging(0.948) deleterious(0) deleterious(0.836) superfamily_alpha/beta-Hydrolases DPP4 1803 genome.wustl.edu 37 2 162881408 162881408 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001935.3 -1 reviewed p.R310I 0.987 188 0% 51 47.1% 4 50% possibly_damaging(0.571) deleterious(0) deleterious(0.640) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain KCNH7 90134 genome.wustl.edu 37 2 163292008 163292008 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033272.2 -1 reviewed p.L552I 1.000 187 0% 34 35.3% 0 - possibly_damaging(0.584) deleterious(0.03) deleterious(0.566) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KCNH7 90134 genome.wustl.edu 37 2 163693051 163693051 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033272.2 -1 reviewed p.K101N 1.000 78 0% 38 55.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PYP-like sensor domain (PAS domain) COBLL1 22837 genome.wustl.edu 37 2 165557219 165557219 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014900.3 -1 validated p.E464* 1.000 152 0% 110 42.7% 13 53.8% - - - NULL SCN3A 6328 genome.wustl.edu 37 2 165947416 165947416 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006922.3 -1 reviewed p.F1749L 1.000 426 0% 110 44.5% 0 - benign(0.256) tolerated(0.42) neutral(0.041) HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 165952064 165952064 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006922.3 -1 reviewed p.F1463C 1.000 205 0% 133 37.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 165953957 165953957 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006922.3 -1 reviewed p.I1348 0.999 216 0% 71 54.9% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN2A 6326 genome.wustl.edu 37 2 166165920 166165920 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040142.1 +1 reviewed p.L222I 1.000 337 0% 102 56.9% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166198878 166198878 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040142.1 +1 reviewed p.E821* 1.000 401 0% 279 47.3% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166201335 166201335 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040142.1 +1 reviewed p.E945* 1.000 408 0% 131 19.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166243360 166243360 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040142.1 +1 reviewed p.T1552 0.087 781 0% 71 12.7% 0 - - - - superfamily_Voltage-gated potassium channels CSRNP3 80034 genome.wustl.edu 37 2 166533084 166533084 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024969.3 +1 validated p.T224M 1.000 68 0.000 9 0.889 1 100% possibly_damaging(0.605) deleterious(0) deleterious(0.654) NULL TTC21B 79809 genome.wustl.edu 37 2 166758272 166758272 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024753.3 -1 validated p.F906C 1.000 128 0% 57 38.6% 7 57.1% benign(0.37) tolerated(0.22) neutral(0.160) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TTC21B 79809 genome.wustl.edu 37 2 166786853 166786853 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024753.3 -1 validated p.L306I 1.000 107 0% 48 54.2% 4 75% probably_damaging(0.973) tolerated(0.11) deleterious(0.686) superfamily_TPR-like SCN1A 6323 genome.wustl.edu 37 2 166847798 166847798 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006920.4 -1 reviewed p.K1985T 1.000 424 0% 137 46% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SCN1A 6323 genome.wustl.edu 37 2 166897932 166897932 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006920.4 -1 reviewed p.S731A 1.000 81 0% 53 32.1% 0 - benign(0) tolerated(1) - NULL SCN1A 6323 genome.wustl.edu 37 2 166929990 166929990 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006920.4 -1 reviewed p.G48C 1.000 403 0% 246 48.4% 0 - probably_damaging(0.967) deleterious(0.01) deleterious(0.815) superfamily_SSF81324 SCN9A 6335 genome.wustl.edu 37 2 167089906 167089906 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002977.3 -1 reviewed p.R1279W 0.996 116 0% 67 47.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167094768 167094768 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002977.3 -1 reviewed p.D1202Y 1.000 35 0% 35 42.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167134663 167134663 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002977.3 -1 reviewed p.R824Q 1.000 97 0% 45 57.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167263003 167263003 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002976.2 -1 validated p.A1379E 0.994 153 0% 25 44% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167263064 167263064 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002976.2 -1 validated p.L1359I 0.916 75 0% 12 41.7% 0 - possibly_damaging(0.93) deleterious(0.01) deleterious(0.782) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167279781 167279781 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002976.2 -1 validated p.F1005 0.997 109 0% 34 38.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167313429 167313429 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002976.2 -1 validated p.K414T 0.950 177 0% 96 44.8% 0 - benign(0.045) tolerated(0.08) neutral(0.302) NULL SCN7A 6332 genome.wustl.edu 37 2 167322357 167322357 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002976.2 -1 validated p.R269* 0.063 233 0% 94 47.9% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels XIRP2 129446 genome.wustl.edu 37 2 167760391 167760391 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152381.4 +1 validated p.Y133 0.000 208 0% 27 55.6% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168100135 168100135 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152381.4 +1 validated p.R745 1.000 66 0% 24 50% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168100471 168100471 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152381.4 +1 validated p.P857T 0.003 44 0% 27 48.1% 0 - probably_damaging(0.961) tolerated(0.16) neutral(0.464) NULL XIRP2 129446 genome.wustl.edu 37 2 168102643 168102643 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152381.4 +1 validated p.R1581* 0.994 48 0% 16 50% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168106833 168106833 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152381.4 +1 validated p.Q2977H 0.996 50 0% 11 45.5% 0 - probably_damaging(0.959) tolerated(0.09) deleterious(0.699) NULL B3GALT1 8708 genome.wustl.edu 37 2 168726189 168726189 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020981.2 +1 reviewed p.R214W 0.987 191 0% 121 52.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Galactosyl_T NOSTRIN 115677 genome.wustl.edu 37 2 169668124 169668124 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039724.3 +1 validated p.E25D 1.000 235 0% 113 42.5% 1 0% benign(0.084) tolerated(0.58) neutral(0.011) HMMPfam_FCH G6PC2 57818 genome.wustl.edu 37 2 169757987 169757987 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021176.2 +1 reviewed p.F49C 1.000 251 0% 279 43% 0 - benign(0.001) deleterious(0) neutral(0.445) superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase ABCB11 8647 genome.wustl.edu 37 2 169825990 169825990 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003742.2 -1 reviewed p.I627 1.000 186 0% 26 42.3% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB11 8647 genome.wustl.edu 37 2 169842773 169842773 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003742.2 -1 reviewed p.F310 0.994 137 0% 39 51.3% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB11 8647 genome.wustl.edu 37 2 169869895 169869895 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003742.2 -1 reviewed p.D92E 0.033 217 0.5% 27 48.1% 0 - benign(0) tolerated(1) - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain LRP2 4036 genome.wustl.edu 37 2 170030640 170030640 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.C3601 0.975 68 0% 27 55.6% 0 - - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170044495 170044495 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.D3105N 1.000 146 0% 28 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170044619 170044619 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.E3063D 1.000 234 0% 44 47.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170060656 170060656 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.R2614I 0.518 194 0% 65 89.2% 0 - benign(0.246) deleterious(0.01) neutral(0.431) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170062935 170062935 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.R2432I 1.000 189 0% 66 37.9% 0 - benign(0.106) deleterious(0) neutral(0.453) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170101261 170101261 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.K1124N 0.000 263 0% 82 40.2% 0 - benign(0.3) tolerated(0.51) neutral(0.102) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170115660 170115660 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.K796N 1.000 209 0% 64 46.9% 0 - benign(0.187) tolerated(0.16) neutral(0.077) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170115722 170115722 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.E776* 1.000 148 0% 57 40.4% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170136004 170136004 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.I481 0.999 131 0% 51 35.3% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_Grow_fac_recept,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170136020 170136020 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.W476* 1.000 131 0% 54 48.1% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_Grow_fac_recept,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170139420 170139420 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004525.2 -1 reviewed p.I378 0.558 159 0% 47 29.8% 0 - - - - HMMSmart_EGF,superfamily_Grow_fac_recept,PatternScan_EGF_2 BBS5 129880 genome.wustl.edu 37 2 170356010 170356010 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152384.2 +1 reviewed p.V232 0.998 92 0% 175 40% 7 28.5% - - - HMMPfam_DUF1448 FASTKD1 79675 genome.wustl.edu 37 2 170401338 170401338 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024622.3 -1 validated p.P570H 0.999 77 0% 60 40% 11 54.5% probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL FASTKD1 79675 genome.wustl.edu 37 2 170416927 170416927 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024622.3 -1 validated p.G314E 1.000 62 0% 96 42.7% 11 81.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPIG 9360 genome.wustl.edu 37 2 170487411 170487411 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004792.2 +1 validated p.E225D 0.991 19 0% 12 58.3% 35 37.1% unknown(0) tolerated(0.32) - NULL PPIG 9360 genome.wustl.edu 37 2 170493171 170493171 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004792.2 +1 validated p.S468* 1.000 69 0% 83 13.3% 39 12.8% - - - NULL UBR3 130507 genome.wustl.edu 37 2 170751735 170751735 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172070.3 +1 validated p.E384* 1.000 69 0% 58 41.4% 3 0% - - - NULL TLK1 9874 genome.wustl.edu 37 2 171902810 171902810 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012290.4 -1 validated p.K348T 1.000 1031 0% 286 43.7% 27 40.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TLK1 9874 genome.wustl.edu 37 2 171910290 171910290 + Missense_Mutation SNP C C T rs181931991 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012290.4 -1 validated p.R238H 1.000 447 0% 151 42.4% 25 48% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL ITGA6 3655 genome.wustl.edu 37 2 173335803 173335803 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079818.1 +1 reviewed p.L249I 1.000 170 0% 78 51.3% 47 36.1% probably_damaging(0.985) deleterious(0.03) deleterious(0.796) superfamily_Integrin alpha N-terminal domain ITGA6 3655 genome.wustl.edu 37 2 173368827 173368827 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079818.1 +1 reviewed p.F1041L 1.000 131 0% 70 38.6% 59 40.6% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_INTEGRIN_ALPHA RAPGEF4 11069 genome.wustl.edu 37 2 173866043 173866043 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007023.3 +1 validated p.N543K 1.000 389 0% 196 40.8% 2 100% possibly_damaging(0.905) tolerated(0.08) deleterious(0.659) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF ZAK 51776 genome.wustl.edu 37 2 173955789 173955789 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016653.2 +1 reviewed p.Q10H 1.000 193 0% 72 40.3% 6 33.3% benign(0.064) tolerated(0.2) neutral(0.053) superfamily_Protein kinase-like (PK-like) SP3 6670 genome.wustl.edu 37 2 174774847 174774847 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003111.4 -1 reviewed p.R723Q 0.994 400 0% 116 38.8% 57 50.8% benign(0.045) tolerated(0.17) neutral(0.061) NULL SP3 6670 genome.wustl.edu 37 2 174820671 174820671 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003111.4 -1 reviewed p.G190D 1.000 97 0% 97 55.7% 38 42.1% benign(0.08) tolerated(0.22) neutral(0.048) NULL SCRN3 79634 genome.wustl.edu 37 2 175289282 175289282 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024583.3 +1 validated p.D333Y 1.000 141 0% 140 46.4% 7 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CHN1 1123 genome.wustl.edu 37 2 175742697 175742697 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001822.4 -1 reviewed p.N140 1.000 402 0% 184 50% 1 0% - - - NULL ATF2 1386 genome.wustl.edu 37 2 176001146 176001146 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001880.2 -1 reviewed p.S9Y 1.000 121 0% 32 40.6% 29 51.7% unknown(0) - - NULL HOXD10 3236 genome.wustl.edu 37 2 176982173 176982173 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002148.3 +1 reviewed p.P204 0.262 4 0.000 16 0.688 1 0% - - - NULL HOXD10 3236 genome.wustl.edu 37 2 176983832 176983832 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002148.3 +1 reviewed p.I299T 1.000 33 0% 56 41.1% 4 0% probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 MIR10B 406903 genome.wustl.edu 37 2 177015132 177015132 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000385011 +1 known NULL 1.000 38 0% 154 53.9% 0 - - - - - HOXD3 3232 genome.wustl.edu 37 2 177033961 177033961 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006898.4 +1 reviewed p.T40N 1.000 88 0% 61 42.6% 0 - benign(0.067) deleterious(0.01) neutral(0.410) NULL HOXD1 3231 genome.wustl.edu 37 2 177054708 177054708 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024501.1 +1 reviewed p.I275 0.998 71 0% 77 40.3% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 TTC30B 150737 genome.wustl.edu 37 2 178415563 178415563 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152517.2 -1 validated p.K643N 1.000 213 0% 234 41.5% 8 75% probably_damaging(0.969) deleterious(0.04) deleterious(0.760) NULL TTC30B 150737 genome.wustl.edu 37 2 178417030 178417030 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152517.2 -1 validated p.T154 0.021 121 0% 71 45.1% 8 37.5% - - - HMMSmart_SM00028,superfamily_TPR-like TTC30A 92104 genome.wustl.edu 37 2 178482488 178482488 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152275.3 -1 validated p.Q314 1.000 113 0% 116 41.4% 9 33.3% - - - superfamily_SSF48452 PDE11A 50940 genome.wustl.edu 37 2 178528606 178528606 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016953.3 -1 reviewed p.M878I 1.000 112 0.9% 24 41.7% 1 100% benign(0.002) tolerated(0.14) neutral(0.249) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like DFNB59 494513 genome.wustl.edu 37 2 179325938 179325938 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042702.3 +1 reviewed p.G332 0.992 147 0% 294 39.5% 6 66.6% - - - NULL TTN 7273 genome.wustl.edu 37 2 179391750 179391750 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.R33419* 1.000 260 0% 78 35.9% 0 - - - - HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179397883 179397883 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.L31917I 1.000 302 0% 113 39.8% 0 - benign(0.195) - - NULL TTN 7273 genome.wustl.edu 37 2 179401251 179401251 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.S30838Y 1.000 51 0% 35 57.1% 0 - probably_damaging(0.995) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179408831 179408831 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.L29444I 1.000 120 0% 52 44.2% 0 - possibly_damaging(0.94) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179411975 179411975 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.S28856Y 0.954 160 0% 59 49.2% 0 - possibly_damaging(0.918) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179424085 179424085 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.F26355S 1.000 101 1% 69 46.4% 0 - possibly_damaging(0.947) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179426306 179426306 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.R25615* 0.846 135 0% 45 40% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179426831 179426831 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.N25440D 1.000 36 0% 29 41.4% 0 - probably_damaging(0.992) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179430126 179430126 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.I24341M 0.998 220 0% 76 36.8% 0 - benign(0.085) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179432554 179432554 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133378.4 -1 reviewed p.E23534* 1.000 107 0.9% 47 42.6% 0 - possibly_damaging(0.847) - - NULL TTN 7273 genome.wustl.edu 37 2 179434376 179434376 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.V22925I 1.000 174 0% 114 46.5% 0 - possibly_damaging(0.444) - - NULL TTN 7273 genome.wustl.edu 37 2 179434600 179434600 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.S22850Y 1.000 273 0% 164 38.4% 0 - possibly_damaging(0.922) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179435530 179435530 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.R22540Q 0.150 290 0% 124 47.6% 0 - possibly_damaging(0.939) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179437711 179437711 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.S21813L 1.000 108 0% 49 36.7% 0 - possibly_damaging(0.893) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179438099 179438099 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.I21684V 1.000 69 0% 33 42.4% 0 - possibly_damaging(0.643) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179441086 179441086 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.S20688Y 1.000 84 2.4% 36 36.1% 2 50% probably_damaging(0.958) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179442499 179442499 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133378.4 -1 reviewed p.R20317* 0.258 154 0% 67 37.3% 1 0% benign(0.027) - - NULL TTN 7273 genome.wustl.edu 37 2 179454700 179454700 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.E18014D 0.997 157 0% 70 32.9% 0 - benign(0.099) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179454957 179454957 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.R17929* 0.782 190 0% 60 45% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179458404 179458404 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133378.4 -1 reviewed p.F16973C 0.991 99 0% 46 39.1% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179469607 179469607 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.R15502I 1.000 262 0% 49 44.9% 0 - benign(0.014) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179470313 179470313 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.R15335 0.983 204 0% 42 42.9% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179473579 179473579 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.L14819I 0.889 257 0% 78 38.5% 0 - benign(0.29) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179476841 179476841 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.R14198Q 1.000 249 0% 72 43.1% 0 - benign(0.098) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179477260 179477260 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.T14096 0.984 364 0% 58 60.3% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179480413 179480413 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.E13571* 1.000 166 0% 30 30% 1 100% - - - HMMPfam_fn3 TTN 7273 genome.wustl.edu 37 2 179494171 179494171 + Splice_Site SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known e188-1 1.000 119 0.8% 28 39.3% 0 - - - - - TTN 7273 genome.wustl.edu 37 2 179494991 179494991 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.S12185Y 1.000 60 0% 23 60.9% 0 - possibly_damaging(0.741) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179495861 179495861 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.K12070N 1.000 187 0% 41 51.2% 0 - benign(0.29) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179548796 179548796 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.P9668 0.364 179 0% 165 43% 0 - - - - HMMPfam_PPAK TTN 7273 genome.wustl.edu 37 2 179560811 179560811 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.T9086A 0.945 445 0% 276 42% 0 - unknown(0) tolerated(0.57) - NULL TTN 7273 genome.wustl.edu 37 2 179569972 179569972 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.T8601A 1.000 144 0% 66 43.9% 0 - unknown(0) - - NULL TTN 7273 genome.wustl.edu 37 2 179579173 179579173 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.I7532 0.921 89 0% 19 36.8% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179583464 179583464 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.D6911Y 1.000 66 0% 26 46.2% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179583965 179583965 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.D6807G 1.000 76 0% 16 37.5% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179585132 179585132 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.S6542Y 0.002 165 0% 64 39.1% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179586802 179586802 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.E6286* 1.000 240 0% 55 10.9% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179587508 179587508 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.F6129C 0.999 89 0% 25 60% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179589096 179589096 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.I5758 0.991 128 0% 35 37.1% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179590711 179590711 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.L5536I 1.000 117 0% 45 33.3% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179597208 179597208 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356127 -1 known p.V4283A 0.379 84 0% 33 42.4% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179605316 179605316 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000342175 -1 known p.Q4044R 0.037 217 0% 59 50.8% 0 - benign(0.049) - - NULL TTN 7273 genome.wustl.edu 37 2 179605349 179605349 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000342175 -1 known p.T4033N 0.111 157 0% 60 11.7% 0 - possibly_damaging(0.539) - - NULL TTN 7273 genome.wustl.edu 37 2 179605619 179605619 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000342175 -1 known p.L3943S 0.061 176 0.6% 39 51.3% 0 - probably_damaging(0.976) - - NULL TTN 7273 genome.wustl.edu 37 2 179611025 179611025 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.E5368* 1.000 42 0% 10 50% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179611522 179611522 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.F5202C 1.000 145 0% 28 39.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179611644 179611644 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.I5161M 0.000 187 0% 32 46.9% 0 - benign(0.033) tolerated(0.19) neutral(0.051) NULL TTN 7273 genome.wustl.edu 37 2 179612236 179612236 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.S4964Y 1.000 152 0% 39 41% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL TTN 7273 genome.wustl.edu 37 2 179612777 179612777 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.E4784* 0.933 198 0% 37 37.8% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179612904 179612904 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.A4741 0.000 180 0% 45 37.8% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179614136 179614136 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.E4331* 1.000 112 0% 20 25% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179615482 179615482 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.S3882Y 0.579 130 0% 27 48.1% 0 - possibly_damaging(0.563) deleterious(0.02) deleterious(0.576) NULL TTN 7273 genome.wustl.edu 37 2 179616136 179616136 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.S3664Y 0.012 224 0% 74 47.3% 0 - benign(0.234) deleterious(0.01) neutral(0.429) NULL TTN 7273 genome.wustl.edu 37 2 179616429 179616429 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.E3566D 1.000 67 0% 28 28.6% 0 - benign(0.395) tolerated(0.6) neutral(0.132) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179633613 179633613 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.D2984Y 1.000 332 0% 127 43.3% 0 - benign(0.127) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179638266 179638266 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.R2506Q 1.000 317 0% 56 44.6% 0 - benign(0.287) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179647147 179647147 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.E1058* 1.000 64 0% 54 48.1% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179659183 179659183 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133379.3 -1 reviewed p.E447D 1.000 175 0% 40 37.5% 0 - possibly_damaging(0.791) tolerated(0.06) deleterious(0.619) HMMPfam_Titin_Z CCDC141 285025 genome.wustl.edu 37 2 179737031 179737031 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173648.2 -1 provisional p.E61D 0.004 420 0% 160 46.3% 0 - benign(0.055) tolerated(0.61) neutral(0.007) NULL ZNF385B 151126 genome.wustl.edu 37 2 180634449 180634449 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152520.4 -1 validated p.E12* 1.000 93 0% 50 32% 1 0% - - - NULL CWC22 57703 genome.wustl.edu 37 2 180837941 180837941 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020943.2 -1 validated p.A261 0.283 117 0% 68 52.9% 8 37.5% - - - HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat ITGA4 3676 genome.wustl.edu 37 2 182399043 182399043 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000885.4 +1 reviewed p.F943 0.994 131 0% 38 39.5% 1 0% - - - superfamily_Integrin domains CERKL 375298 genome.wustl.edu 37 2 182413310 182413310 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001030311.2 -1 reviewed p.S391 1.000 404 0% 125 53.6% 1 0% - - - NULL SSFA2 6744 genome.wustl.edu 37 2 182780226 182780226 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130445.1 +1 validated p.E620G 0.460 185 0% 62 45.2% 42 30.9% benign(0.001) deleterious(0.02) neutral(0.383) NULL PDE1A 5136 genome.wustl.edu 37 2 183051292 183051292 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005019.3 -1 validated p.P427S 1.000 83 0% 35 45.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,superfamily_SSF109604 PDE1A 5136 genome.wustl.edu 37 2 183104942 183104942 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005019.3 -1 validated p.A98V 1.000 533 0% 223 44.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I_N DNAJC10 54431 genome.wustl.edu 37 2 183584830 183584830 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018981.1 +1 provisional p.E101* 1.000 92 0% 131 40.5% 37 8.1% - - - superfamily_Chaperone J-domain DNAJC10 54431 genome.wustl.edu 37 2 183595762 183595762 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018981.1 +1 provisional p.F245V 1.000 197 0% 111 45% 61 4.9% benign(0.013) tolerated(0.21) neutral(0.044) superfamily_Thioredoxin-like NCKAP1 10787 genome.wustl.edu 37 2 183866908 183866908 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_205842.1 -1 validated p.R159 1.000 390 0% 191 41.9% 39 48.7% - - - HMMPfam_Nckap1 ZNF804A 91752 genome.wustl.edu 37 2 185802234 185802234 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194250.1 +1 provisional p.S704* 0.010 119 0% 65 35.4% 0 - - - - NULL ZNF804A 91752 genome.wustl.edu 37 2 185802718 185802718 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194250.1 +1 provisional p.I865 0.000 81 0% 47 40.4% 0 - - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186671207 186671207 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000424728 +1 known p.S5725L 0.000 50 0% 24 54.2% 1 100% benign(0.012) tolerated(0.42) neutral(0.015) NULL FSIP2 401024 genome.wustl.edu 37 2 186671435 186671435 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000424728 +1 known p.S5801Y 0.863 83 0% 27 18.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FSIP2 401024 genome.wustl.edu 37 2 186672797 186672797 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000424728 +1 known p.S6255Y 0.835 19 0.000 9 0.556 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FSIP2 401024 genome.wustl.edu 37 2 186673360 186673360 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000424728 +1 known p.I6443V 0.133 46 0% 25 52% 1 0% possibly_damaging(0.597) deleterious(0.02) deleterious(0.590) NULL ZC3H15 55854 genome.wustl.edu 37 2 187364956 187364956 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018471.2 +1 validated p.K75N 1.000 97 0% 179 26.8% 83 31.3% possibly_damaging(0.916) tolerated(0.14) deleterious(0.617) NULL ZC3H15 55854 genome.wustl.edu 37 2 187373361 187373361 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018471.2 +1 validated p.N394 0.997 418 0% 245 35.1% 243 37% - - - NULL ITGAV 3685 genome.wustl.edu 37 2 187490225 187490225 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002210.3 +1 reviewed p.R145I 1.000 191 0% 129 25.6% 11 45.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Integrin alpha N-terminal domain ITGAV 3685 genome.wustl.edu 37 2 187490269 187490269 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002210.3 +1 reviewed p.L160I 1.000 189 0% 133 36.1% 15 33.3% probably_damaging(0.999) tolerated(0.29) deleterious(0.519) superfamily_Integrin alpha N-terminal domain FAM171B 165215 genome.wustl.edu 37 2 187605095 187605095 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_177454.3 +1 validated p.V127L 0.944 209 0% 138 25.4% 5 60% possibly_damaging(0.937) tolerated(0.48) neutral(0.394) HMMPfam_UPF0560 FAM171B 165215 genome.wustl.edu 37 2 187608254 187608254 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_177454.3 +1 validated p.N173H 1.000 209 0% 155 58.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UPF0560 ZSWIM2 151112 genome.wustl.edu 37 2 187703849 187703849 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182521.2 -1 validated p.R111W 0.001 188 0% 50 40% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL CALCRL 10203 genome.wustl.edu 37 2 188248029 188248029 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005795.4 -1 validated p.L19I 0.009 193 0% 87 36.8% 2 0% possibly_damaging(0.442) tolerated(0.31) neutral(0.171) NULL CALCRL 10203 genome.wustl.edu 37 2 188250289 188250289 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005795.4 -1 validated p.L12I 0.788 59 0% 49 46.9% 2 0% benign(0.001) tolerated(0.3) neutral(0.029) NULL TFPI 7035 genome.wustl.edu 37 2 188368408 188368408 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006287.4 -1 reviewed p.S30A 0.000 213 0% 61 41% 3 0% benign(0.004) tolerated(0.2) neutral(0.049) NULL COL3A1 1281 genome.wustl.edu 37 2 189870106 189870106 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000090.3 +1 reviewed p.L988I 0.000 60 0% 45 62.2% 143 0% possibly_damaging(0.543) tolerated(0.09) deleterious(0.480) HMMPfam_Collagen COL5A2 1290 genome.wustl.edu 37 2 189898828 189898828 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000393.3 -1 reviewed p.G1490S 1.000 318 0% 27 44.4% 46 4.3% probably_damaging(0.995) - - HMMPfam_COLFI,HMMSmart_COLFI SLC40A1 30061 genome.wustl.edu 37 2 190430214 190430214 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014585.5 -1 reviewed p.S209L 1.000 98 0% 52 46.2% 42 45.2% benign(0.002) tolerated(0.16) neutral(0.059) superfamily_MFS general substrate transporter ANKAR 150709 genome.wustl.edu 37 2 190592706 190592706 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144708.3 +1 validated p.Q849H 0.000 253 0% 102 46.1% 0 - benign(0.416) tolerated(0.06) neutral(0.457) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ANKAR 150709 genome.wustl.edu 37 2 190595302 190595302 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144708.3 +1 validated p.R1021I 0.996 268 0% 120 47.5% 0 - probably_damaging(0.992) tolerated(0.09) deleterious(0.744) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat OSGEPL1 64172 genome.wustl.edu 37 2 190626240 190626240 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022353.2 -1 validated p.E43* 1.000 39 0% 98 49% 2 0% - - - superfamily_Actin-like ATPase domain PMS1 5378 genome.wustl.edu 37 2 190728731 190728731 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000534.4 +1 reviewed p.K707Q 0.957 61 0% 40 42.5% 23 82.6% benign(0.104) deleterious(0.01) neutral(0.414) NULL MSTN 2660 genome.wustl.edu 37 2 190921990 190921990 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005259.2 -1 reviewed p.C374 1.000 80 0% 51 51% 0 - - - - HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines GLS 2744 genome.wustl.edu 37 2 191818309 191818309 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014905.3 +1 validated p.L557I 1.000 1290 0% 115 41.7% 1 100% possibly_damaging(0.842) tolerated(0.07) deleterious(0.641) superfamily_Ankyrin repeat STAT1 6772 genome.wustl.edu 37 2 191841710 191841710 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007315.3 -1 reviewed p.L639I 1.000 192 0% 113 44.2% 119 20.1% possibly_damaging(0.878) deleterious(0) deleterious(0.786) HMMPfam_SH2,superfamily_SH2 domain STAT4 6775 genome.wustl.edu 37 2 191922752 191922752 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003151.2 -1 reviewed p.R400* 1.000 137 0% 92 54.3% 0 - - - - superfamily_P53_like_DNA_bnd,HMMPfam_STAT_bind SLC39A10 57181 genome.wustl.edu 37 2 196545401 196545401 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127257.1 +1 validated p.E212A 0.312 58 0% 52 44.2% 5 40% benign(0) tolerated(0.34) neutral(0.023) NULL DNAH7 56171 genome.wustl.edu 37 2 196642563 196642563 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.F3675 0.994 263 0% 120 39.2% 0 - - - - HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196659121 196659121 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.R3553* 1.000 300 0% 124 41.9% 0 - - - - HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196689119 196689119 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.L3051I 0.997 123 0% 82 43.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH7 56171 genome.wustl.edu 37 2 196689132 196689132 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.I3046M 0.000 122 0% 80 43.8% 1 100% benign(0.019) tolerated(0.12) neutral(0.262) NULL DNAH7 56171 genome.wustl.edu 37 2 196722288 196722288 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.L2743I 0.982 181 0% 57 52.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DNAH7 56171 genome.wustl.edu 37 2 196726550 196726550 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.D2543Y 0.001 153 0% 72 48.6% 0 - benign(0.039) deleterious(0.03) neutral(0.366) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196737012 196737012 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.E2199* 0.785 174 0% 117 44.4% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196759835 196759835 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.F1587L 1.000 129 0% 91 18.7% 0 - benign(0.114) tolerated(0.55) neutral(0.016) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196791212 196791212 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.L1184I 1.000 171 0% 88 34.1% 0 - probably_damaging(0.997) tolerated(0.37) deleterious(0.485) NULL DNAH7 56171 genome.wustl.edu 37 2 196801382 196801382 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.F1071L 1.000 99 0% 38 50% 0 - possibly_damaging(0.822) deleterious(0.03) deleterious(0.675) HMMPfam_DHC_N2 DNAH7 56171 genome.wustl.edu 37 2 196822170 196822170 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018897.2 -1 validated p.E965* 1.000 100 0% 27 37% 0 - - - - HMMPfam_DHC_N2 HECW2 57520 genome.wustl.edu 37 2 197122594 197122594 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020760.1 -1 provisional p.P1124 0.987 76 0% 25 44% 3 0% - - - NULL CCDC150 284992 genome.wustl.edu 37 2 197521832 197521832 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080539.1 +1 provisional p.A183V 0.962 144 0% 26 42.3% 6 66.6% benign(0.142) tolerated(0.24) neutral(0.050) NULL PGAP1 80055 genome.wustl.edu 37 2 197711805 197711805 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024989.3 -1 validated p.T691M 0.995 85 0% 59 49.2% 4 75% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SF3B1 23451 genome.wustl.edu 37 2 198270162 198270162 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012433.2 -1 reviewed p.R425Q 1.000 57 0% 52 11.5% 81 12.3% possibly_damaging(0.919) deleterious(0.05) deleterious(0.715) HMMPfam_SF3b1 RFTN2 130132 genome.wustl.edu 37 2 198498690 198498690 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144629.2 -1 validated p.F157C 1.000 198 0% 103 53.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RFTN2 130132 genome.wustl.edu 37 2 198511352 198511352 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144629.2 -1 validated p.L60 0.036 100 0% 93 34.4% 1 0% - - - NULL PLCL1 5334 genome.wustl.edu 37 2 198949716 198949716 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006226.3 +1 validated p.G394V 0.996 139 0% 56 35.7% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_PI-PLC-X,HMMSmart_PLCXc,superfamily_PLC-like_Pdiesterase_TIM-brl PLCL1 5334 genome.wustl.edu 37 2 198950790 198950790 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006226.3 +1 validated p.R752Q 1.000 454 0% 59 35.6% 1 0% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL SATB2 23314 genome.wustl.edu 37 2 200245104 200245104 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015265.3 -1 reviewed p.E194* 1.000 145 0% 49 40.8% 1 0% - - - NULL SPATS2L 26010 genome.wustl.edu 37 2 201337659 201337659 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100422.1 +1 validated p.R389* 0.948 50 0% 38 60.5% 29 6.8% - - - NULL AOX1 316 genome.wustl.edu 37 2 201492166 201492166 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001159.3 +1 reviewed p.L739I 0.985 203 0% 134 46.3% 0 - benign(0.076) tolerated(1) neutral(0.005) HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain AOX1 316 genome.wustl.edu 37 2 201507526 201507526 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001159.3 +1 reviewed e25+2 1.000 119 0% 30 46.7% 0 - - - - - BZW1 9689 genome.wustl.edu 37 2 201683057 201683057 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014670.2 +1 validated p.R254C 1.000 52 0% 71 47.9% 129 40.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM-type_fold CLK1 1195 genome.wustl.edu 37 2 201721699 201721699 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004071.3 -1 reviewed p.S281I 1.000 308 0% 150 40.7% 30 40% benign(0.182) deleterious(0) neutral(0.461) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ORC2 4999 genome.wustl.edu 37 2 201778122 201778122 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006190.3 -1 reviewed p.D515Y 1.000 58 0% 64 39.1% 29 48.2% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_ORC2 CASP8 841 genome.wustl.edu 37 2 202149880 202149880 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080125.1 +1 reviewed p.E441* 0.312 116 0% 67 23.9% 9 11.1% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like TRAK2 66008 genome.wustl.edu 37 2 202252616 202252616 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015049.2 -1 validated p.F502L 1.000 121 0% 25 28% 12 25% possibly_damaging(0.742) tolerated(0.11) deleterious(0.544) NULL STRADB 55437 genome.wustl.edu 37 2 202340410 202340410 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018571.5 +1 reviewed p.L165I 1.000 125 0% 166 38% 17 64.7% possibly_damaging(0.853) deleterious(0.05) deleterious(0.674) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STRADB 55437 genome.wustl.edu 37 2 202343091 202343091 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018571.5 +1 reviewed p.Q279H 1.000 64 0% 57 40.4% 8 50% possibly_damaging(0.598) deleterious(0) deleterious(0.651) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ALS2CR11 151254 genome.wustl.edu 37 2 202356833 202356833 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000439140 -1 known p.R1411* 0.005 139 0% 207 47.8% 0 - - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202356962 202356962 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000439140 -1 known p.L1368V 0.003 47 0% 92 40.2% 0 - probably_damaging(0.991) - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202400887 202400887 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152525.5 -1 validated p.K455Q 0.003 396 0% 127 43.3% 0 - possibly_damaging(0.49) tolerated(0.09) neutral(0.460) NULL ALS2CR11 151254 genome.wustl.edu 37 2 202466489 202466489 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152525.5 -1 validated p.F163 0.986 191 0% 119 42.9% 0 - - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202466579 202466579 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152525.5 -1 validated p.F133L 0.901 159 0.6% 102 52% 0 - possibly_damaging(0.851) deleterious(0.05) deleterious(0.672) NULL ALS2 57679 genome.wustl.edu 37 2 202587823 202587823 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000439495 -1 known p.R536* 0.366 109 0% 120 41.7% 12 50% - - - HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain FZD7 8324 genome.wustl.edu 37 2 202900492 202900492 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003507.1 +1 reviewed p.I374 1.000 56 0% 24 54.2% 14 42.8% - - - HMMPfam_Frizzled SUMO1 7341 genome.wustl.edu 37 2 203075460 203075460 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005781.1 -1 reviewed p.E79* 1.000 105 0% 111 42.3% 161 54.6% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like NBEAL1 65065 genome.wustl.edu 37 2 203914576 203914576 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114132.1 +1 validated p.D61 1.000 239 0.8% 188 43.6% 2 50% - - - superfamily_ARM repeat NBEAL1 65065 genome.wustl.edu 37 2 203933140 203933140 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114132.1 +1 validated p.K180N 1.000 241 0% 235 43.8% 1 100% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) superfamily_ARM repeat NBEAL1 65065 genome.wustl.edu 37 2 203942514 203942514 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114132.1 +1 validated p.K213T 1.000 41 0% 93 47.3% 2 100% probably_damaging(0.997) tolerated(0.15) deleterious(0.707) superfamily_ARM repeat NBEAL1 65065 genome.wustl.edu 37 2 203948035 203948035 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114132.1 +1 validated p.E260* 1.000 262 0% 119 45.4% 0 - - - - superfamily_ARM repeat NBEAL1 65065 genome.wustl.edu 37 2 203972159 203972159 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114132.1 +1 validated p.R400I 1.000 60 0% 138 50.7% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) superfamily_ARM repeat NBEAL1 65065 genome.wustl.edu 37 2 203972491 203972491 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114132.1 +1 validated p.R481Q 1.000 160 0% 149 37.6% 1 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_ARM repeat NBEAL1 65065 genome.wustl.edu 37 2 203995130 203995130 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114132.1 +1 validated p.N1136 1.000 220 0% 212 44.3% 0 - - - - NULL NBEAL1 65065 genome.wustl.edu 37 2 204013738 204013738 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114132.1 +1 validated p.R1748* 0.998 119 0% 74 56.8% 0 - - - - NULL ABI2 10152 genome.wustl.edu 37 2 204244967 204244967 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005759.4 +1 validated p.E108* 1.000 99 0% 117 48.7% 33 39.3% - - - HMMPfam_Abi_HHR PARD3B 117583 genome.wustl.edu 37 2 205983771 205983771 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152526.4 +1 validated e7+1 1.000 57 0% 40 50% 0 - - - - - PARD3B 117583 genome.wustl.edu 37 2 206023594 206023594 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_057177.5 +1 validated p.F528C 1.000 126 0% 56 55.4% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like NRP2 8828 genome.wustl.edu 37 2 206562428 206562428 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201266.1 +1 reviewed p.I78 0.958 323 0% 68 45.6% 8 37.5% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain NDUFS1 4719 genome.wustl.edu 37 2 206991495 206991495 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005006.5 -1 reviewed p.L653R 1.000 196 0% 182 37.4% 51 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53706 ZDBF2 57683 genome.wustl.edu 37 2 207175683 207175683 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020923.1 +1 validated p.R2144I 0.001 19 0% 25 16% 0 - benign(0.099) - - NULL ADAM23 8745 genome.wustl.edu 37 2 207425919 207425919 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003812.2 +1 reviewed p.G413* 1.000 304 0% 144 47.9% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" FASTKD2 22868 genome.wustl.edu 37 2 207639120 207639120 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136193.1 +1 reviewed p.E476* 0.323 356 0% 187 44.9% 6 0% - - - HMMPfam_FAST_1 KLF7 8609 genome.wustl.edu 37 2 207988910 207988910 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003709.2 -1 provisional p.E107D 1.000 128 0% 46 52.2% 3 0% possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL METTL21A 151194 genome.wustl.edu 37 2 208478129 208478129 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127395.1 -1 validated p.E100* 1.000 63 0% 102 35.3% 29 51.7% - - - HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases PIKFYVE 200576 genome.wustl.edu 37 2 209150509 209150509 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015040.3 +1 reviewed p.D225Y 1.000 305 0% 122 43.4% 1 100% probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL PIKFYVE 200576 genome.wustl.edu 37 2 209167033 209167033 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015040.3 +1 reviewed p.D426N 1.000 217 0% 46 34.8% 7 14.2% probably_damaging(1) tolerated(0.09) deleterious(0.796) "HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" PIKFYVE 200576 genome.wustl.edu 37 2 209212675 209212675 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015040.3 +1 reviewed p.A1768T 1.000 74 0% 42 54.8% 8 50% possibly_damaging(0.952) tolerated(0.31) neutral(0.423) superfamily_SAICAR synthase-like PIKFYVE 200576 genome.wustl.edu 37 2 209218760 209218760 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015040.3 +1 reviewed p.K1995E 1.000 303 0% 152 46.1% 9 44.4% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like MAP2 4133 genome.wustl.edu 37 2 210518033 210518033 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002374.3 +1 reviewed p.G47* 1.000 95 0% 10 50% 7 14.2% - - - NULL MAP2 4133 genome.wustl.edu 37 2 210557748 210557748 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002374.3 +1 reviewed p.S285Y 1.000 44 0% 15 46.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MAP2 4133 genome.wustl.edu 37 2 210559607 210559607 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002374.3 +1 reviewed p.R905* 0.920 93 0% 28 42.9% 0 - - - - HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210561397 210561397 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002374.3 +1 reviewed p.I1438L 1.000 58 0% 35 51.4% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_MAP2_projctn UNC80 285175 genome.wustl.edu 37 2 210693980 210693980 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032504.1 +1 validated p.Y835D 1.000 173 0% 36 36.1% 0 - probably_damaging(0.996) tolerated(0.12) deleterious(0.722) NULL UNC80 285175 genome.wustl.edu 37 2 210703988 210703988 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032504.1 +1 validated p.F1028L 1.000 60 0% 21 52.4% 0 - possibly_damaging(0.888) deleterious(0.03) deleterious(0.712) NULL UNC80 285175 genome.wustl.edu 37 2 210794657 210794657 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032504.1 +1 validated p.R1891* 1.000 163 0% 69 46.4% 0 - - - - NULL UNC80 285175 genome.wustl.edu 37 2 210802327 210802327 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032504.1 +1 validated p.E2080D 1.000 214 0% 82 36.6% 0 - probably_damaging(0.971) tolerated(0.15) deleterious(0.654) NULL UNC80 285175 genome.wustl.edu 37 2 210836997 210836997 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032504.1 +1 validated p.L2711I 1.000 265 0% 132 45.5% 0 - probably_damaging(0.971) tolerated(0.06) deleterious(0.736) NULL RPE 6120 genome.wustl.edu 37 2 210880824 210880824 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199229.1 +1 provisional p.E110D 1.000 158 0% 128 52.3% 21 47.6% benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Ribul_P_3_epim,superfamily_Ribulose-phoshate binding barrel KANSL1L 151050 genome.wustl.edu 37 2 210908737 210908737 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152519.2 -1 validated p.S616L 0.913 157 0.6% 74 37.8% 5 60% benign(0) tolerated(0.36) neutral(0.020) NULL ACADL 33 genome.wustl.edu 37 2 211060041 211060041 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001608.3 -1 reviewed p.E336* 1.000 201 0% 34 55.9% 1 0% - - - HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like CPS1 1373 genome.wustl.edu 37 2 211438031 211438031 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122633.1 +1 reviewed p.A52T 1.000 281 0% 58 37.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CPSase_sm_chain,superfamily_Carbamoyl phosphate synthetase small subunit N-terminal domain CPS1 1373 genome.wustl.edu 37 2 211441179 211441179 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122633.1 +1 reviewed p.G122R 1.000 291 0% 33 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CPSase_sm_chain,superfamily_Carbamoyl phosphate synthetase small subunit N-terminal domain CPS1 1373 genome.wustl.edu 37 2 211442229 211442229 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122633.1 +1 reviewed p.E162* 1.000 270 0% 47 51.1% 0 - - - - HMMPfam_CPSase_sm_chain,superfamily_Carbamoyl phosphate synthetase small subunit N-terminal domain CPS1 1373 genome.wustl.edu 37 2 211459300 211459300 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122633.1 +1 reviewed p.P417 0.154 202 0% 25 52% 0 - - - - NULL CPS1 1373 genome.wustl.edu 37 2 211469901 211469901 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122633.1 +1 reviewed p.R644* 1.000 154 0% 37 48.6% 0 - - - - HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like ERBB4 2066 genome.wustl.edu 37 2 212285292 212285292 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005235.2 -1 reviewed p.F1003L 1.000 114 0% 36 41.7% 0 - probably_damaging(0.989) tolerated(0.22) deleterious(0.481) superfamily_Protein kinase-like (PK-like) ERBB4 2066 genome.wustl.edu 37 2 212483951 212483951 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005235.2 -1 reviewed p.K751T 1.000 163 0% 53 43.4% 0 - 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 ERBB4 2066 genome.wustl.edu 37 2 212568834 212568834 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000260943 -1 known p.S428F 0.031 185 0% 98 33.7% 0 - - - - HMMPfam_Recep_L_domain,superfamily_L domain-like ERBB4 2066 genome.wustl.edu 37 2 212812335 212812335 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005235.2 -1 reviewed p.R81* 1.000 143 0% 47 61.7% 0 - - - - HMMPfam_Recep_L_domain,superfamily_L domain-like SPAG16 79582 genome.wustl.edu 37 2 214794725 214794725 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024532.3 +1 validated p.K419R 0.984 202 0% 86 38.4% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 VWC2L 402117 genome.wustl.edu 37 2 215279262 215279262 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080500.2 +1 provisional p.F115L 1.000 56 0% 26 38.5% 0 - possibly_damaging(0.94) deleterious(0.03) deleterious(0.750) NULL ABCA12 26154 genome.wustl.edu 37 2 215865517 215865517 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173076.2 -1 reviewed p.A1031S 1.000 211 0% 65 52.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ABCA12 26154 genome.wustl.edu 37 2 215865605 215865605 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173076.2 -1 reviewed p.K1001N 0.999 242 0% 76 10.5% 0 - possibly_damaging(0.595) tolerated(0.25) neutral(0.243) NULL ABCA12 26154 genome.wustl.edu 37 2 215866420 215866420 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173076.2 -1 reviewed p.D909N 0.925 412 0.2% 102 39.2% 0 - benign(0.003) tolerated(0.59) neutral(0.004) NULL ABCA12 26154 genome.wustl.edu 37 2 215884364 215884364 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173076.2 -1 reviewed p.E482K 0.027 169 0% 64 53.1% 0 - benign(0.021) deleterious(0.03) neutral(0.365) NULL FN1 2335 genome.wustl.edu 37 2 216269199 216269199 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_212482.1 -1 reviewed p.L1056 0.980 161 0% 37 35.1% 18 16.6% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LOC646324 646324 genome.wustl.edu 37 2 216669487 216669487 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_078267.1 -1 model NULL 0.542 19 0% 22 50% 0 - - - - - LOC646324 646324 genome.wustl.edu 37 2 216669565 216669565 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_078267.1 -1 model NULL 0.802 19 0% 15 46.7% 0 - - - - - XRCC5 7520 genome.wustl.edu 37 2 217026749 217026749 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021141.3 +1 reviewed p.Q604H 1.000 596 0% 207 49.8% 481 43.4% possibly_damaging(0.93) deleterious(0.04) deleterious(0.726) HMMPfam_Ku_PK_bind,superfamily_Ku_PK_bind XRCC5 7520 genome.wustl.edu 37 2 217054974 217054974 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021141.3 +1 reviewed p.E621K 0.945 265 0% 144 50% 507 45.5% benign(0.012) tolerated(0.8) neutral(0.001) HMMPfam_Ku_PK_bind,superfamily_Ku_PK_bind SMARCAL1 50485 genome.wustl.edu 37 2 217285188 217285188 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127207.1 +1 reviewed p.F343 0.074 423 0.2% 149 14.8% 11 27.2% - - - HMMPfam_HARP IGFBP2 3485 genome.wustl.edu 37 2 217525414 217525414 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000597.2 +1 validated p.E193K 1.000 78 0% 29 51.7% 2178 42.6% probably_damaging(0.979) tolerated(0.06) deleterious(0.744) NULL TNS1 7145 genome.wustl.edu 37 2 218699836 218699836 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022648.4 -1 reviewed p.P961 0.024 100 0% 53 39.6% 17 41.1% - - - NULL RUFY4 285180 genome.wustl.edu 37 2 218939979 218939979 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198483.3 +1 validated p.S82I 0.000 115 0% 40 50% 0 - benign(0.149) deleterious(0) neutral(0.458) NULL C2orf62 375307 genome.wustl.edu 37 2 219222369 219222369 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198559.1 +1 predicted p.E77 0.058 26 0% 28 46.4% 0 - - - - NULL BCS1L 617 genome.wustl.edu 37 2 219526620 219526620 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079866.1 +1 reviewed p.R200Q 0.998 128 0% 87 37.9% 36 58.3% benign(0.133) tolerated(0.29) neutral(0.040) superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC108 255101 genome.wustl.edu 37 2 219868912 219868912 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194302.2 -1 provisional p.E1773* 0.983 128 0% 250 41.2% 0 - - - - NULL CCDC108 255101 genome.wustl.edu 37 2 219905277 219905277 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000409865 -1 known p.S12Y 0.052 17 0% 24 33.3% 0 - unknown(0) - - NULL FAM134A 79137 genome.wustl.edu 37 2 220045402 220045402 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024293.4 +1 validated p.R189Q 0.965 580 0% 424 46.9% 48 43.7% unknown(0) - - NULL ANKZF1 55139 genome.wustl.edu 37 2 220098516 220098516 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042410.1 +1 validated p.R300H 1.000 43 0% 48 39.6% 23 43.4% probably_damaging(0.993) tolerated(0.29) deleterious(0.479) NULL STK16 8576 genome.wustl.edu 37 2 220113471 220113471 + RNA SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_026909.1 +1 validated NULL 0.000 7 0.000 7 0.571 11 63.6% - - - - DES 1674 genome.wustl.edu 37 2 220285334 220285334 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001927.3 +1 reviewed p.A285T 1.000 30 0% 39 43.6% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Prefoldin,HMMPfam_Filament SPEG 10290 genome.wustl.edu 37 2 220344742 220344742 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005876.4 +1 validated p.D1741G 1.000 112 0.9% 58 43.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SPEG 10290 genome.wustl.edu 37 2 220353854 220353854 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005876.4 +1 validated p.T2743I 0.886 42 0% 33 48.5% 0 - benign(0.052) deleterious(0.01) neutral(0.409) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SPEG 10290 genome.wustl.edu 37 2 220354242 220354242 + Silent SNP G G T rs148685205 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005876.4 +1 validated p.S2834 0.028 14 0% 25 32% 0 - - - - NULL SLC4A3 6508 genome.wustl.edu 37 2 220506403 220506403 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201574.2 +1 validated p.D1245N 1.000 141 0% 80 43.8% 25 52% possibly_damaging(0.564) deleterious(0.01) deleterious(0.598) NULL EPHA4 2043 genome.wustl.edu 37 2 222301800 222301800 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004438.3 -1 reviewed p.S706Y 1.000 100 0% 90 51.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like EPHA4 2043 genome.wustl.edu 37 2 222365881 222365881 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004438.3 -1 reviewed p.G279* 1.000 131 0% 17 52.9% 0 - - - - NULL PAX3 5077 genome.wustl.edu 37 2 223096869 223096869 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181459.2 -1 reviewed p.R240 0.999 241 0% 44 50% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like MOGAT1 116255 genome.wustl.edu 37 2 223554123 223554123 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_058165.2 +1 validated p.S138* 0.001 227 0% 185 16.2% 0 - - - - HMMPfam_DAGAT ACSL3 2181 genome.wustl.edu 37 2 223793592 223793592 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004457.3 +1 reviewed p.N493T 1.000 352 0% 164 40.2% 61 39.3% benign(0) tolerated(0.52) neutral(0.009) HMMPfam_AMP-binding,superfamily_SSF56801 SCG2 7857 genome.wustl.edu 37 2 224462981 224462981 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003469.3 -1 reviewed p.E340D 0.969 196 0% 74 43.2% 0 - benign(0.005) tolerated(0.53) neutral(0.007) HMMPfam_Granin SERPINE2 5270 genome.wustl.edu 37 2 224845062 224845062 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136530.1 -1 validated p.V358 1.000 161 0% 123 44.7% 379 44.8% - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINE2 5270 genome.wustl.edu 37 2 224849536 224849536 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136530.1 -1 validated p.S285G 1.000 240 0% 65 38.5% 369 47.1% possibly_damaging(0.668) deleterious(0) deleterious(0.681) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINE2 5270 genome.wustl.edu 37 2 224863010 224863010 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136530.1 -1 validated p.K115N 1.000 296 0% 138 46.4% 272 47% possibly_damaging(0.568) tolerated(0.22) neutral(0.237) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin FAM124B 79843 genome.wustl.edu 37 2 225244906 225244906 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122779.1 -1 validated p.L251R 0.000 142 0% 11 54.5% 0 - possibly_damaging(0.852) tolerated(0.06) deleterious(0.650) NULL CUL3 8452 genome.wustl.edu 37 2 225360625 225360625 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003590.3 -1 validated p.K589T 1.000 272 0% 130 40.8% 60 26.6% probably_damaging(0.961) tolerated(0.16) neutral(0.464) HMMPfam_Cullin,superfamily_Cullin homology domain CUL3 8452 genome.wustl.edu 37 2 225422405 225422405 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003590.3 -1 validated p.E79* 1.000 232 0% 207 43% 23 34.7% - - - HMMPfam_Cullin,superfamily_Cullin repeat DOCK10 55619 genome.wustl.edu 37 2 225635326 225635326 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014689.2 -1 validated p.L2081I 0.998 397 0% 152 37.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ded_cyto DOCK10 55619 genome.wustl.edu 37 2 225666693 225666693 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014689.2 -1 validated p.R1445* 1.000 367 0% 134 45.5% 1 0% - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225750811 225750811 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014689.2 -1 validated p.N194S 1.000 38 0% 23 34.8% 0 - benign(0.096) tolerated(0.67) neutral(0.009) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like NYAP2 57624 genome.wustl.edu 37 2 226446750 226446750 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020864.1 +1 validated p.S206Y 1.000 53 0% 19 42.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL IRS1 3667 genome.wustl.edu 37 2 227662766 227662766 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005544.2 -1 reviewed p.V230A 1.000 25 0% 43 41.9% 10 60% possibly_damaging(0.948) tolerated(0.18) neutral(0.447) HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 COL4A4 1286 genome.wustl.edu 37 2 227907878 227907878 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000092.4 -1 reviewed p.E1104 0.007 66 0% 12 41.7% 0 - - - - HMMPfam_Collagen COL4A4 1286 genome.wustl.edu 37 2 227953466 227953466 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000092.4 -1 reviewed p.G509E 0.352 61 0% 11 45.5% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Collagen COL4A3 1285 genome.wustl.edu 37 2 228109044 228109044 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000091.3 +1 reviewed p.P81 1.000 176 0% 152 38.8% 0 - - - - HMMPfam_Collagen COL4A3 1285 genome.wustl.edu 37 2 228135525 228135525 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000091.3 +1 reviewed p.E539* 0.989 55 0% 29 51.7% 0 - - - - HMMPfam_Collagen COL4A3 1285 genome.wustl.edu 37 2 228142203 228142203 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000091.3 +1 reviewed p.L687I 0.986 153 0% 167 47.9% 0 - unknown(0) tolerated(0.31) - NULL COL4A3 1285 genome.wustl.edu 37 2 228145223 228145223 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000091.3 +1 reviewed p.S764Y 0.900 56 0% 41 58.5% 0 - unknown(0) deleterious(0.04) - HMMPfam_Collagen MFF 56947 genome.wustl.edu 37 2 228207487 228207487 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020194.4 +1 provisional p.R182I 1.000 80 0% 44 36.4% 14 0% benign(0.278) deleterious(0) deleterious(0.475) HMMPfam_DUF800 SLC19A3 80704 genome.wustl.edu 37 2 228566927 228566927 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025243.3 -1 reviewed p.I36 0.004 148 0% 140 40% 0 - - - - HMMPfam_Folate_carrier,superfamily_MFS_gen_substrate_transporter WDR69 164781 genome.wustl.edu 37 2 228769694 228769694 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178821.1 +1 provisional p.R233I 0.998 505 0% 207 13.5% 0 - probably_damaging(0.971) tolerated(0.34) neutral(0.436) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SPHKAP 80309 genome.wustl.edu 37 2 228883609 228883609 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142644.1 -1 validated p.S654Y 0.756 135 0% 107 57.9% 0 - benign(0.267) deleterious(0.03) neutral(0.393) NULL TRIP12 9320 genome.wustl.edu 37 2 230638875 230638875 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004238.1 -1 provisional p.E1803K 1.000 318 0.3% 104 41.3% 98 48.9% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT TRIP12 9320 genome.wustl.edu 37 2 230657829 230657829 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004238.1 -1 provisional p.K1259T 1.000 167 0% 59 35.6% 46 54.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TRIP12 9320 genome.wustl.edu 37 2 230724247 230724247 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004238.1 -1 provisional p.D48N 1.000 204 0% 102 47.1% 15 73.3% possibly_damaging(0.608) deleterious(0.01) deleterious(0.616) NULL SP140 11262 genome.wustl.edu 37 2 231118053 231118053 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000417495 +1 known p.P302H 0.000 647 0% 139 18% 0 - - - - NULL SP140 11262 genome.wustl.edu 37 2 231159011 231159011 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007237.4 +1 validated p.R665I 0.152 247 0% 145 45.5% 0 - - - - superfamily_SAND domain-like SP140 11262 genome.wustl.edu 37 2 231175910 231175910 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007237.4 +1 validated p.E775D 0.999 611 0% 553 34.2% 3 0% probably_damaging(0.996) tolerated(0.19) deleterious(0.511) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain SP140L 93349 genome.wustl.edu 37 2 231265669 231265669 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138402.4 +1 provisional e16-1 0.108 241 0% 87 14.9% 1 0% - - - - ENSG00000199791 0 genome.wustl.edu 37 2 231451846 231451846 + RNA SNP C C T rs192435111 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000362921 +1 novel NULL 0.000 20 0% 16 31.2% 0 - - - - - ITM2C 81618 genome.wustl.edu 37 2 231741620 231741620 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030926.4 +1 validated p.E167K 0.999 66 0% 53 37.7% 94 31.9% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_BRICHOS PSMD1 5707 genome.wustl.edu 37 2 231949742 231949742 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002807.2 +1 reviewed p.L578I 1.000 171 0% 113 56.6% 123 46.3% possibly_damaging(0.675) tolerated(0.18) neutral(0.295) superfamily_ARM repeat ARMC9 80210 genome.wustl.edu 37 2 232079688 232079688 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025139.3 +1 validated p.L108I 0.930 138 0% 95 48.4% 9 44.4% possibly_damaging(0.872) tolerated(0.39) neutral(0.355) NULL NCL 4691 genome.wustl.edu 37 2 232321728 232321728 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005381.2 -1 reviewed p.N519D 1.000 378 0% 376 41.8% 559 48.4% benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ALPP 250 genome.wustl.edu 37 2 233246283 233246283 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001632.3 +1 reviewed p.F462 0.326 24 0% 12 41.7% 0 - - - - HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,superfamily_Alkaline_phosphatase_core EFHD1 80303 genome.wustl.edu 37 2 233527630 233527630 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025202.3 +1 validated p.D141N 1.000 113 0% 75 52% 110 80.9% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 EFHD1 80303 genome.wustl.edu 37 2 233527635 233527635 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025202.3 +1 validated p.F142 0.844 119 0% 77 36.4% 125 20% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 EFHD1 80303 genome.wustl.edu 37 2 233527641 233527641 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025202.3 +1 validated p.G144 1.000 108 0% 71 38% 103 0% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 KCNJ13 3769 genome.wustl.edu 37 2 233635949 233635949 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002242.4 -1 reviewed p.R42* 0.994 334 0% 72 45.8% 0 - - - - HMMPfam_IRK,superfamily_Voltage-gated potassium channels GIGYF2 26058 genome.wustl.edu 37 2 233651941 233651941 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001103147.1 +1 reviewed p.R227H 1.000 307 0% 141 41.1% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GIGYF2 26058 genome.wustl.edu 37 2 233656064 233656064 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001103147.1 +1 reviewed p.K418T 1.000 288 0% 64 43.8% 17 41.1% possibly_damaging(0.633) tolerated(0.08) deleterious(0.521) NULL ATG16L1 55054 genome.wustl.edu 37 2 234173758 234173758 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030803.6 +1 validated p.R204W 0.998 56 0% 55 49.1% 5 60% benign(0.016) deleterious(0.03) neutral(0.365) superfamily_WD40 repeat-like,HMMPfam_ATG16 ATG16L1 55054 genome.wustl.edu 37 2 234182405 234182405 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030803.6 +1 validated p.S278Y 1.000 386 0% 355 40.6% 4 50% unknown(0) tolerated(0.17) - superfamily_WD40 repeat-like SAG 6295 genome.wustl.edu 37 2 234251022 234251022 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000252857 +1 known p.D197E 0.002 162 0% 232 44% 0 - - - - NULL SAG 6295 genome.wustl.edu 37 2 234255515 234255515 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000541.4 +1 reviewed p.E392A 0.004 166 0% 252 46.4% 0 - benign(0.141) tolerated(0.17) neutral(0.071) NULL USP40 55230 genome.wustl.edu 37 2 234394437 234394437 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000454354 -1 known p.S95L 0.892 24 0% 41 36.6% 8 37.5% - - - NULL USP40 55230 genome.wustl.edu 37 2 234428301 234428301 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018218.2 -1 validated p.R792Q 1.000 148 0% 87 23% 7 28.5% probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL UGT1A9 54600 genome.wustl.edu 37 2 234580718 234580718 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021027.2 +1 reviewed p.E46D 0.993 266 0% 58 56.9% 0 - benign(0.029) tolerated(0.54) neutral(0.009) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A7 54577 genome.wustl.edu 37 2 234591259 234591259 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019077.2 +1 reviewed p.N226H 0.000 241 0% 110 37.3% 0 - benign(0) tolerated(0.24) neutral(0.037) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A6 54578 genome.wustl.edu 37 2 234602382 234602382 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001072.3 +1 reviewed p.I244 0.000 319 0% 154 38.3% 13 46.1% - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A5 54579 genome.wustl.edu 37 2 234621853 234621853 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019078.1 +1 reviewed p.E72D 0.000 140 0% 88 51.1% 0 - benign(0.004) tolerated(0.12) neutral(0.261) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A1 54658 genome.wustl.edu 37 2 234669283 234669283 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000463.2 +1 reviewed p.K117T 0.000 133 0% 91 42.9% 0 - benign(0.002) tolerated(0.59) neutral(0.004) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase TRPM8 79054 genome.wustl.edu 37 2 234854619 234854619 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024080.4 +1 validated p.V273 0.002 127 0% 56 44.6% 0 - - - - NULL TRPM8 79054 genome.wustl.edu 37 2 234871962 234871962 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024080.4 +1 validated p.L564I 0.997 196 0% 113 53.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TRPM8 79054 genome.wustl.edu 37 2 234878944 234878944 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024080.4 +1 validated p.V743 1.000 532 0% 272 34.2% 0 - - - - NULL TRPM8 79054 genome.wustl.edu 37 2 234891822 234891822 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024080.4 +1 validated p.Y905 0.629 169 0% 42 42.9% 0 - - - - HMMPfam_Ion_trans TRPM8 79054 genome.wustl.edu 37 2 234915513 234915513 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024080.4 +1 validated p.D1049E 1.000 226 0% 97 13.4% 0 - probably_damaging(0.955) tolerated(0.63) neutral(0.402) NULL AGAP1 116987 genome.wustl.edu 37 2 236708131 236708131 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037131.1 +1 validated p.R308C 1.000 128 0% 47 38.3% 27 44.4% benign(0.309) tolerated(0.13) neutral(0.349) NULL AGAP1 116987 genome.wustl.edu 37 2 236957752 236957752 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000418654 +1 known p.L200F 1.000 358 0% 128 37.5% 28 39.2% - - - HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain IQCA1 79781 genome.wustl.edu 37 2 237289280 237289280 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000457693 -1 known e12-1 0.001 1054 0% 391 43.7% 0 - - - - - IQCA1 79781 genome.wustl.edu 37 2 237405838 237405838 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024726.3 -1 provisional p.D102N 1.000 110 0% 55 50.9% 7 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL COL6A3 1293 genome.wustl.edu 37 2 238242125 238242125 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004369.3 -1 reviewed p.V3099A 1.000 118 0% 90 46.7% 63 0% unknown(0) - - NULL COL6A3 1293 genome.wustl.edu 37 2 238280885 238280885 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004369.3 -1 reviewed p.V1259I 1.000 59 0% 21 42.9% 13 0% benign(0.317) tolerated(0.15) neutral(0.340) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like RAB17 64284 genome.wustl.edu 37 2 238483764 238483764 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022449.3 -1 validated p.E179 0.363 37 0% 17 41.2% 51 54.9% - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 LRRFIP1 9208 genome.wustl.edu 37 2 238628209 238628209 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137552.1 +1 validated p.S66L 0.985 135 0% 145 40% 1 0% benign(0.253) deleterious(0) deleterious(0.471) HMMPfam_DUF2051 LRRFIP1 9208 genome.wustl.edu 37 2 238671280 238671280 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137552.1 +1 validated p.I308 0.815 43 0% 75 41.3% 61 50.8% - - - HMMPfam_DUF2051 LRRFIP1 9208 genome.wustl.edu 37 2 238672658 238672658 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137552.1 +1 validated p.S768G 0.000 106 0% 87 44.8% 89 55% possibly_damaging(0.585) tolerated(0.11) deleterious(0.473) NULL RBM44 375316 genome.wustl.edu 37 2 238726580 238726580 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080504.2 +1 validated p.D341Y 1.000 16 0% 14 57.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ESPNL 339768 genome.wustl.edu 37 2 239040133 239040133 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194312.2 +1 validated p.F926L 1.000 4 0.000 11 0.545 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL ILKAP 80895 genome.wustl.edu 37 2 239098610 239098610 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030768.2 -1 reviewed p.S61Y 1.000 124 0% 306 43.8% 29 44.8% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL HDAC4 9759 genome.wustl.edu 37 2 239988567 239988567 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000430200 -1 known p.S37 0.497 19 0% 13 38.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL HDAC4 9759 genome.wustl.edu 37 2 240061430 240061430 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006037.3 -1 reviewed p.V310I 1.000 56 0% 13 53.8% 2 50% benign(0) tolerated(1) - NULL ENSG00000196758 0 genome.wustl.edu 37 2 240500133 240500133 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000358775 +1 known p.R5H 0.000 42 0% 36 13.9% 0 - unknown(0) - - NULL OR6B3 150681 genome.wustl.edu 37 2 240985367 240985367 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173351.1 -1 provisional p.E41D 0.995 60 0% 25 52% 0 - probably_damaging(0.998) tolerated(0.61) deleterious(0.478) HMMPfam_7tm_1,superfamily_SSF81321 MYEOV2 150678 genome.wustl.edu 37 2 241069410 241069410 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138336.1 -1 validated p.S100F 0.000 24 0% 12 50% 0 - unknown(0) - - NULL MYEOV2 150678 genome.wustl.edu 37 2 241073380 241073380 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138336.1 -1 validated p.E67* 1.000 84 0% 140 14.3% 244 13.1% - - - NULL OTOS 150677 genome.wustl.edu 37 2 241078668 241078668 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148961.3 -1 validated p.I63 0.928 31 0% 25 36% 0 - - - - NULL SNED1 25992 genome.wustl.edu 37 2 241991276 241991276 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080437.1 +1 provisional p.I617 0.965 11 0% 12 50% 0 - - - - superfamily_EGF/Laminin SNED1 25992 genome.wustl.edu 37 2 242008355 242008355 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080437.1 +1 provisional p.I1075T 0.096 23 0% 13 76.9% 2 0% benign(0.221) deleterious(0) neutral(0.467) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ANO7 50636 genome.wustl.edu 37 2 242162640 242162640 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001891.3 +1 validated p.Q841H 0.000 86 0% 83 42.2% 3 66.6% benign(0.386) tolerated(0.57) neutral(0.130) HMMPfam_DUF590 SEPT2 4735 genome.wustl.edu 37 2 242287551 242287551 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008491.1 +1 validated p.K310T 1.000 123 0% 249 43.4% 267 43% benign(0) tolerated(0.4) neutral(0.016) HMMPfam_Septin D2HGDH 728294 genome.wustl.edu 37 2 242683190 242683190 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152783.3 +1 reviewed p.R215Q 0.997 80 0% 47 36.2% 20 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FAD_binding_4,superfamily_FAD-binding domain CXXC11 285093 genome.wustl.edu 37 2 242812064 242812064 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173821.2 +1 validated p.S52 0.143 21 0% 12 33.3% 0 - - - - NULL CXXC11 285093 genome.wustl.edu 37 2 242814835 242814835 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173821.2 +1 validated p.D376E 0.000 7 0.000 14 0.429 0 - possibly_damaging(0.666) tolerated(0.24) neutral(0.273) NULL CNTN6 27255 genome.wustl.edu 37 3 1414624 1414624 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014461.2 +1 reviewed p.D591N 1.000 196 0% 44 47.7% 0 - possibly_damaging(0.628) deleterious(0.02) deleterious(0.602) superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726 CNTN4 152330 genome.wustl.edu 37 3 2924901 2924901 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175607.1 +1 reviewed p.T242M 0.977 196 0.5% 53 54.7% 2 0% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IL5RA 3568 genome.wustl.edu 37 3 3144448 3144448 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000564.3 -1 reviewed p.L47I 0.949 183 0% 124 43.5% 0 - possibly_damaging(0.749) tolerated(0.29) neutral(0.304) NULL LRRN1 57633 genome.wustl.edu 37 3 3887187 3887187 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020873.5 +1 validated p.R288W 0.223 62 0% 45 84.4% 26 100% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) superfamily_SSF52058 ITPR1 3708 genome.wustl.edu 37 3 4716885 4716885 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099952.2 +1 reviewed p.A911V 0.934 201 0% 186 38.7% 1 0% benign(0.004) tolerated(0.28) neutral(0.032) NULL ITPR1 3708 genome.wustl.edu 37 3 4726775 4726775 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099952.2 +1 reviewed p.L1187R 1.000 227 0% 103 53.4% 0 - possibly_damaging(0.857) deleterious(0) deleterious(0.776) HMMPfam_RYDR_ITPR ITPR1 3708 genome.wustl.edu 37 3 4852970 4852970 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099952.2 +1 reviewed p.E2384* 1.000 219 0% 163 46.6% 0 - - - - HMMPfam_Ion_trans GRM7 2917 genome.wustl.edu 37 3 6903448 6903448 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181874.2 +1 reviewed p.A125T 1.000 52 0% 22 36.4% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_ANF_receptor,superfamily_SSF53822 LMCD1 29995 genome.wustl.edu 37 3 8590416 8590416 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014583.2 +1 reviewed p.E184* 0.959 124 0% 74 47.3% 15 0% - - - HMMPfam_PET RAD18 56852 genome.wustl.edu 37 3 8983271 8983271 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020165.3 -1 reviewed p.E162* 0.021 264 0% 61 42.6% 7 14.2% - - - NULL THUMPD3 25917 genome.wustl.edu 37 3 9413065 9413065 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114092.1 +1 validated p.E218* 0.973 55 0% 73 28.8% 20 15% - - - NULL THUMPD3 25917 genome.wustl.edu 37 3 9425999 9425999 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114092.1 +1 validated p.D447N 1.000 62 0% 64 50% 37 10.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UPF0020,superfamily_SSF53335 LHFPL4 375323 genome.wustl.edu 37 3 9594190 9594190 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198560.2 -1 reviewed p.Y58* 1.000 20 0% 32 34.4% 0 - - - - HMMPfam_L_HGMIC_fpl OGG1 4968 genome.wustl.edu 37 3 9807518 9807518 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000352937 +1 known p.W163* 1.000 193 0% 58 51.7% 22 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HhH-GPD,HMMSmart_SM00478 OGG1 4968 genome.wustl.edu 37 3 9807654 9807654 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016821.2 +1 reviewed p.F370L 0.000 97 1% 29 37.9% 12 58.3% unknown(0) - - NULL IL17RE 132014 genome.wustl.edu 37 3 9949924 9949924 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153480.1 +1 reviewed p.K223T 0.813 115 0% 83 42.2% 1 100% possibly_damaging(0.697) deleterious(0.01) deleterious(0.655) NULL IL17RE 132014 genome.wustl.edu 37 3 9953152 9953152 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153480.1 +1 reviewed p.S366R 0.955 102 0% 94 37.2% 8 50% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL IL17RE 132014 genome.wustl.edu 37 3 9956446 9956446 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153480.1 +1 reviewed p.R478W 0.008 83 0% 61 45.9% 8 62.5% benign(0.047) deleterious(0.01) neutral(0.409) NULL IL17RC 84818 genome.wustl.edu 37 3 9970273 9970273 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153461.2 +1 reviewed p.E428K 0.032 65 0% 70 51.4% 15 6.6% benign(0.009) tolerated(0.26) neutral(0.035) NULL C3orf24 115795 genome.wustl.edu 37 3 10145989 10145989 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173472.1 -1 validated p.R157H 1.000 88 0% 104 44.2% 0 - possibly_damaging(0.664) deleterious(0) deleterious(0.679) NULL BRK1 55845 genome.wustl.edu 37 3 10167347 10167347 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018462.4 +1 validated p.E52D 1.000 152 0% 146 43.8% 348 37.6% possibly_damaging(0.904) tolerated(0.16) neutral(0.418) NULL ATP2B2 491 genome.wustl.edu 37 3 10387188 10387188 + Silent SNP G G A rs111706887 byCluster TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001331.2 -1 reviewed p.I861 0.917 377 0% 92 35.9% 0 - - - - superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M SLC6A11 6538 genome.wustl.edu 37 3 10953819 10953819 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014229.1 +1 provisional p.I312M 1.000 223 0% 104 45.2% 0 - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_SNF SLC6A1 6529 genome.wustl.edu 37 3 11078641 11078641 + Missense_Mutation SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003042.3 +1 validated p.A597P 1.000 121 0% 12 41.7% 0 - benign(0.06) deleterious(0.02) neutral(0.387) NULL SYN2 6854 genome.wustl.edu 37 3 12211381 12211381 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000341648 +1 known p.R359I 1.000 180 0% 17 29.4% 0 - possibly_damaging(0.926) deleterious(0.05) deleterious(0.720) NULL TMEM40 55287 genome.wustl.edu 37 3 12778139 12778139 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018306.2 -1 provisional p.S186Y 1.000 52 0% 36 55.6% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL NUP210 23225 genome.wustl.edu 37 3 13363180 13363180 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024923.2 -1 reviewed p.L1691I 0.998 75 0% 51 47.1% 88 54.5% benign(0.041) tolerated(0.29) neutral(0.032) NULL C3orf19 51244 genome.wustl.edu 37 3 14695972 14695972 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016474.4 +1 validated p.E28* 1.000 39 0% 87 43.7% 18 72.2% - - - NULL FGD5 152273 genome.wustl.edu 37 3 14922087 14922087 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152536.3 +1 validated p.G889 1.000 209 0% 77 49.4% 8 25% - - - superfamily_DBL homology domain (DH-domain) FGD5 152273 genome.wustl.edu 37 3 14922119 14922119 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152536.3 +1 validated p.L900R 1.000 237 0% 89 40.4% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ENSG00000221424 0 genome.wustl.edu 37 3 15175955 15175955 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000408497 -1 novel NULL 0.055 143 0% 129 44.2% 0 - - - - - METTL6 131965 genome.wustl.edu 37 3 15467823 15467823 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152396.2 -1 validated p.E66K 1.000 326 0% 222 43.7% 23 43.4% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_S-adenosyl-L-methionine-dependent methyltransferases HACL1 26061 genome.wustl.edu 37 3 15628080 15628080 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012260.2 -1 validated p.F137L 1.000 94 0% 80 47.5% 9 44.4% benign(0.199) tolerated(0.48) neutral(0.029) HMMPfam_TPP_enzyme_N,superfamily_SSF52518 ANKRD28 23243 genome.wustl.edu 37 3 15753656 15753656 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015199.2 -1 provisional p.L392I 1.000 53 0% 32 12.5% 7 0% possibly_damaging(0.868) tolerated(0.08) deleterious(0.637) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat GALNTL2 117248 genome.wustl.edu 37 3 16216768 16216768 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_054110.4 +1 validated p.H37R 0.002 112 0% 44 34.1% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL GALNTL2 117248 genome.wustl.edu 37 3 16252734 16252734 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_054110.4 +1 validated p.E395K 1.000 176 0% 57 52.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53448 RFTN1 23180 genome.wustl.edu 37 3 16358730 16358730 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015150.1 -1 validated p.R448* 1.000 139 0% 136 47.1% 6 0% - - - NULL DAZL 1618 genome.wustl.edu 37 3 16638329 16638329 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001351.2 -1 reviewed p.V142 0.992 334 0% 199 34.2% 0 - - - - NULL PLCL2 23228 genome.wustl.edu 37 3 17051788 17051788 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015184.5 +1 validated p.K191T 1.000 32 0% 19 47.4% 2 50% benign(0.338) tolerated(0.41) neutral(0.121) superfamily_SSF47473 KAT2B 8850 genome.wustl.edu 37 3 20142827 20142827 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003884.4 +1 reviewed p.E240* 1.000 247 0% 47 34% 8 12.5% - - - HMMPfam_PCAF_N KAT2B 8850 genome.wustl.edu 37 3 20164214 20164214 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003884.4 +1 reviewed p.R444Q 1.000 180 0% 65 49.2% 9 66.6% probably_damaging(0.986) tolerated(0.09) deleterious(0.731) NULL NR1D2 9975 genome.wustl.edu 37 3 23996191 23996191 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005126.4 +1 reviewed p.L60 0.956 139 0% 158 49.4% 6 33.3% - - - NULL NR1D2 9975 genome.wustl.edu 37 3 23997605 23997605 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005126.4 +1 reviewed p.E121K 1.000 331 0% 343 44.9% 25 44% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C4,HMMSmart_ZnF_C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_SSF57716 RARB 5915 genome.wustl.edu 37 3 25611346 25611346 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000965.3 +1 reviewed p.E182 1.000 103 0% 97 46.4% 11 18.1% - - - superfamily_Str_ncl_receptor RARB 5915 genome.wustl.edu 37 3 25635012 25635012 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000965.3 +1 reviewed p.R269 1.000 250 0% 65 49.2% 6 16.6% - - - HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor NGLY1 55768 genome.wustl.edu 37 3 25760964 25760964 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018297.3 -1 reviewed p.F651C 1.000 358 0% 148 50% 53 66% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL LRRC3B 116135 genome.wustl.edu 37 3 26751872 26751872 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052953.2 +1 provisional p.E237K 1.000 146 0.7% 26 50% 1 100% probably_damaging(1) tolerated(0.2) deleterious(0.549) NULL NEK10 152110 genome.wustl.edu 37 3 27363681 27363681 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199347.2 -1 validated p.D145A 1.000 150 0% 69 33.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat SLC4A7 9497 genome.wustl.edu 37 3 27477888 27477888 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003615.3 -1 validated p.E185* 1.000 113 0% 65 47.7% 6 16.6% - - - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein EOMES 8320 genome.wustl.edu 37 3 27758988 27758988 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005442.2 -1 reviewed p.L545W 1.000 119 0% 143 54.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RBMS3 27303 genome.wustl.edu 37 3 30032685 30032685 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003793.2 +1 reviewed p.S431Y 1.000 283 0% 104 53.8% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL TGFBR2 7048 genome.wustl.edu 37 3 30691875 30691875 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024847.2 +1 reviewed p.K151T 0.950 166 0% 60 43.3% 4 75% benign(0.001) tolerated(0.15) neutral(0.241) HMMPfam_ecTbetaR2,superfamily_Snake toxin-like OSBPL10 114884 genome.wustl.edu 37 3 31871543 31871543 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017784.4 -1 reviewed p.E240K 1.000 79 0% 34 50% 34 38.2% possibly_damaging(0.692) deleterious(0.01) deleterious(0.653) NULL CLASP2 23122 genome.wustl.edu 37 3 33648233 33648233 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015097.1 -1 validated p.R515I 1.000 215 0% 102 43.1% 11 45.4% possibly_damaging(0.446) deleterious(0.02) deleterious(0.529) superfamily_ARM repeat PDCD6IP 10015 genome.wustl.edu 37 3 33870431 33870431 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013374.4 +1 validated p.K268N 1.000 337 0% 88 46.6% 34 41.1% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_BRO1 PDCD6IP 10015 genome.wustl.edu 37 3 33907893 33907893 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013374.4 +1 validated p.Q828P 1.000 115 0% 50 56% 55 54.5% unknown(0) tolerated(0.08) - NULL ARPP21 10777 genome.wustl.edu 37 3 35750500 35750500 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016300.4 +1 validated p.K279Q 1.000 334 0% 128 39.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ENSG00000172995 0 genome.wustl.edu 37 3 35770874 35770874 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000425289 +1 known p.L208I 0.998 92 0% 15 46.7% 0 - - - - NULL MIR128-2 406916 genome.wustl.edu 37 3 35785989 35785989 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000384893 +1 known NULL 1.000 40 0% 19 57.9% 0 - - - - - STAC 6769 genome.wustl.edu 37 3 36534709 36534709 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003149.1 +1 provisional p.R252C 0.977 168 0% 74 10.8% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL TRANK1 9881 genome.wustl.edu 37 3 36905972 36905972 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000513141 -1 known NULL 0.993 142 0% 70 48.6% 0 - - - - - TRANK1 9881 genome.wustl.edu 37 3 36934402 36934402 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000429976 -1 known p.S158N 1.000 93 0% 70 45.7% 0 - benign(0.009) tolerated(0.08) neutral(0.300) NULL EPM2AIP1 9852 genome.wustl.edu 37 3 37033500 37033500 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014805.3 -1 reviewed p.E357* 0.996 57 0% 96 42.7% 8 25% - - - NULL GOLGA4 2803 genome.wustl.edu 37 3 37363233 37363233 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002078.4 +1 reviewed p.Q519 0.732 103 0% 114 32.5% 12 41.6% - - - NULL GOLGA4 2803 genome.wustl.edu 37 3 37367050 37367050 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002078.4 +1 reviewed p.E1225K 0.992 91 0% 46 56.5% 22 68.1% benign(0.052) tolerated(0.32) neutral(0.027) NULL GOLGA4 2803 genome.wustl.edu 37 3 37368329 37368329 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002078.4 +1 reviewed p.I1651T 1.000 86 0% 61 36.1% 45 46.6% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL GOLGA4 2803 genome.wustl.edu 37 3 37370562 37370562 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002078.4 +1 reviewed p.K2057T 0.973 262 0% 117 41% 71 54.9% probably_damaging(0.965) deleterious(0.03) deleterious(0.771) NULL GOLGA4 2803 genome.wustl.edu 37 3 37388747 37388747 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002078.4 +1 reviewed p.R2179Q 1.000 216 0% 139 46% 67 47.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GRIP,HMMSmart_SM00755,superfamily_GRIP domain PLCD1 5333 genome.wustl.edu 37 3 38050579 38050579 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130964.1 -1 validated p.S580 0.979 150 0% 63 44.4% 6 50% - - - HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl PLCD1 5333 genome.wustl.edu 37 3 38058104 38058104 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130964.1 -1 validated p.K123N 1.000 318 0% 83 38.6% 2 0% possibly_damaging(0.592) tolerated(0.18) neutral(0.261) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 DLEC1 9940 genome.wustl.edu 37 3 38153182 38153182 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007337.2 +1 reviewed p.P1153L 0.895 55 0% 36 44.4% 0 - possibly_damaging(0.812) tolerated(0.28) neutral(0.337) NULL SLC22A13 9390 genome.wustl.edu 37 3 38316603 38316603 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004256.3 +1 reviewed p.Q254R 0.998 62 0% 23 34.8% 0 - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) HMMPfam_MFS_1,superfamily_MFS general substrate transporter XYLB 9942 genome.wustl.edu 37 3 38437009 38437009 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005108.3 +1 reviewed p.K435N 1.000 140 0% 134 47.8% 8 75% benign(0.268) deleterious(0.04) neutral(0.378) HMMPfam_FGGY_C,superfamily_SSF53067 EXOG 9941 genome.wustl.edu 37 3 38565430 38565430 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005107.3 +1 reviewed p.L228 0.020 70 0% 37 48.6% 7 28.5% - - - HMMPfam_Endonuclease_NS,HMMSmart_SM00477,superfamily_His-Me finger endonucleases SCN5A 6331 genome.wustl.edu 37 3 38640473 38640473 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099404.1 -1 reviewed p.F653 0.942 40 0% 19 52.6% 0 - - - - NULL SCN10A 6336 genome.wustl.edu 37 3 38739271 38739271 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006514.2 -1 validated p.E1814* 1.000 164 0% 74 43.2% 0 - - - - NULL SCN10A 6336 genome.wustl.edu 37 3 38739484 38739484 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006514.2 -1 validated p.M1743V 1.000 250 0% 77 39% 0 - benign(0.366) deleterious(0) deleterious(0.561) superfamily_SSF81324 SCN10A 6336 genome.wustl.edu 37 3 38751008 38751008 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006514.2 -1 validated p.V1414 1.000 123 0% 103 41.7% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN10A 6336 genome.wustl.edu 37 3 38784001 38784001 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006514.2 -1 validated p.Q629H 1.000 235 0% 42 40.5% 0 - possibly_damaging(0.682) tolerated(0.11) deleterious(0.514) NULL SCN10A 6336 genome.wustl.edu 37 3 38798207 38798207 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006514.2 -1 validated p.K416N 0.718 200 0% 101 56.4% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL SCN11A 11280 genome.wustl.edu 37 3 38888956 38888956 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014139.2 -1 validated p.K1535N 0.001 143 0% 42 35.7% 0 - benign(0.005) deleterious(0.01) neutral(0.406) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels WDR48 57599 genome.wustl.edu 37 3 39118648 39118648 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020839.2 +1 provisional p.A306S 1.000 125 0% 123 43.1% 13 46.1% benign(0.008) tolerated(0.71) neutral(0.002) superfamily_WD40 repeat-like ZNF619 285267 genome.wustl.edu 37 3 40528615 40528615 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145082.2 +1 validated p.K245T 0.994 85 0% 41 39% 9 44.4% benign(0.146) tolerated(0.07) neutral(0.332) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CTNNB1 1499 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C T rs121913403 byCluster TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098209.1 +1 reviewed p.S37F 1.000 81 0% 36 44.4% 169 40.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTNNB1 1499 genome.wustl.edu 37 3 41275762 41275762 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098209.1 +1 reviewed p.M553V 1.000 417 0% 70 51.4% 212 46.6% benign(0) tolerated(0.66) neutral(0.003) HMMSmart_SM00185,superfamily_ARM repeat ULK4 54986 genome.wustl.edu 37 3 41607533 41607533 + Missense_Mutation SNP T T C rs191981192 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017886.2 -1 validated p.E1070G 1.000 245 0% 96 40.6% 2 0% benign(0.121) tolerated(0.14) neutral(0.259) superfamily_ARM-type_fold ULK4 54986 genome.wustl.edu 37 3 41954312 41954312 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017886.2 -1 validated p.D295Y 0.066 113 0% 80 46.3% 2 100% benign(0.35) deleterious(0.01) deleterious(0.517) superfamily_Kinase_like,superfamily_ARM-type_fold ULK4 54986 genome.wustl.edu 37 3 41977373 41977373 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017886.2 -1 validated p.E100* 1.000 270 0% 150 20% 5 20% - - - superfamily_Kinase_like,HMMPfam_Pkinase TRAK1 22906 genome.wustl.edu 37 3 42132982 42132982 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042646.1 +1 validated p.F7 0.000 374 0.3% 113 45.1% 0 - - - - NULL TRAK1 22906 genome.wustl.edu 37 3 42230561 42230561 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042646.1 +1 validated p.S212Y 1.000 198 0% 90 50% 13 30.7% probably_damaging(0.96) tolerated(0.64) neutral(0.406) HMMPfam_HAP1_N TRAK1 22906 genome.wustl.edu 37 3 42244373 42244373 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000449246 +1 known p.C551R 1.000 5 0.000 11 0.455 0 - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL NKTR 4820 genome.wustl.edu 37 3 42679162 42679162 + Frame_Shift_Del DEL A A - novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005385.3 +1 reviewed p.E657fs 0.957 - - - - - - - - - NULL ZBTB47 92999 genome.wustl.edu 37 3 42700438 42700438 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000232974 +1 known p.V197 0.000 8 0.000 12 0.417 8 37.5% - - - NULL ZNF662 389114 genome.wustl.edu 37 3 42955835 42955835 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134656.1 +1 validated p.R116S 0.547 36 0% 54 46.3% 5 0% benign(0) tolerated(0.79) neutral(0.001) NULL ZNF662 389114 genome.wustl.edu 37 3 42956368 42956368 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134656.1 +1 validated p.R294K 1.000 99 0% 74 54.1% 3 0% possibly_damaging(0.882) deleterious(0.03) deleterious(0.709) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C3orf77 375337 genome.wustl.edu 37 3 44283855 44283855 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145030.1 +1 validated p.K104Q 0.050 42 0% 18 44.4% 0 - probably_damaging(0.975) tolerated(0.05) deleterious(0.762) NULL C3orf77 375337 genome.wustl.edu 37 3 44284457 44284457 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145030.1 +1 validated p.C153* 0.982 46 0% 71 46.5% 0 - - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44285341 44285341 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145030.1 +1 validated p.S448L 0.000 53 0% 67 43.3% 0 - probably_damaging(0.957) tolerated(0.17) neutral(0.460) NULL C3orf77 375337 genome.wustl.edu 37 3 44364613 44364613 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145030.1 +1 validated p.L1501I 0.996 50 0% 58 36.2% 0 - probably_damaging(0.971) tolerated(0.08) deleterious(0.713) NULL C3orf77 375337 genome.wustl.edu 37 3 44369798 44369798 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145030.1 +1 validated p.L1578I 1.000 94 0% 98 35.7% 0 - possibly_damaging(0.722) deleterious(0) deleterious(0.707) NULL C3orf23 285343 genome.wustl.edu 37 3 44434423 44434423 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173826.3 +1 validated p.R217C 1.000 100 0% 100 45% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF197 10168 genome.wustl.edu 37 3 44683588 44683588 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006991.3 +1 reviewed p.K322N 0.000 51 0% 43 46.5% 15 66.6% probably_damaging(0.999) tolerated(0.32) deleterious(0.514) NULL ZNF197 10168 genome.wustl.edu 37 3 44685219 44685219 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006991.3 +1 reviewed p.R866I 0.982 54 0% 71 46.5% 4 75% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF501 115560 genome.wustl.edu 37 3 44776206 44776206 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145044.2 +1 validated p.R98I 1.000 154 0% 138 45.7% 6 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KIAA1143 57456 genome.wustl.edu 37 3 44794861 44794861 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020696.3 -1 validated p.S146Y 1.000 132 0% 126 13.5% 37 2.7% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL EXOSC7 23016 genome.wustl.edu 37 3 45038599 45038599 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015004.3 +1 validated p.E92A 1.000 337 0% 178 47.2% 84 39.2% benign(0.015) tolerated(0.52) neutral(0.009) HMMPfam_RNase_PH,superfamily_Ribosomal protein S5 domain 2-like CDCP1 64866 genome.wustl.edu 37 3 45136977 45136977 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022842.3 -1 reviewed p.F370L 0.766 478 0% 117 40.2% 35 40% possibly_damaging(0.808) tolerated(0.33) neutral(0.328) NULL LARS2 23395 genome.wustl.edu 37 3 45557711 45557711 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015340.3 +1 reviewed p.R663W 0.998 185 0% 126 49.2% 30 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1g,superfamily_SSF52374 FYCO1 79443 genome.wustl.edu 37 3 45963310 45963310 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024513.2 -1 validated p.Y1462H 1.000 118 0% 90 52.2% 7 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Supernatant protein factor (SPF) C-terminal domain CCR5 1234 genome.wustl.edu 37 3 46414934 46414934 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000579.3 +1 reviewed p.H181N 0.003 68 1.5% 56 46.4% 3 0% benign(0.023) deleterious(0.01) neutral(0.407) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCR5 1234 genome.wustl.edu 37 3 46415439 46415439 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000579.3 +1 reviewed p.S349F 0.879 33 0% 34 64.7% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL CCRL2 9034 genome.wustl.edu 37 3 46449903 46449903 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130910.1 +1 reviewed p.F123 0.000 199 0.5% 84 39.3% 2 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 PTH1R 5745 genome.wustl.edu 37 3 46935457 46935457 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000316.2 +1 reviewed p.A46T 1.000 51 0% 19 36.8% 0 - benign(0.097) tolerated(0.23) neutral(0.049) NULL CCDC12 151903 genome.wustl.edu 37 3 46963573 46963573 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144716.3 -1 validated p.E159K 0.083 88 0% 80 36.2% 126 47.6% benign(0) tolerated(0.78) neutral(0.001) HMMPfam_cwf18 SETD2 29072 genome.wustl.edu 37 3 47125251 47125251 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014159.6 -1 reviewed p.D2007Y 1.000 476 0% 158 44.3% 62 53.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SETD2 29072 genome.wustl.edu 37 3 47164211 47164211 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014159.6 -1 reviewed p.E639K 1.000 52 0% 57 40.4% 4 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL KIF9 64147 genome.wustl.edu 37 3 47312902 47312902 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134878.1 -1 validated p.V139A 0.851 75 0% 49 44.9% 1 100% benign(0.184) tolerated(0.17) neutral(0.076) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPN23 25930 genome.wustl.edu 37 3 47448830 47448830 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015466.2 +1 validated p.R299H 1.000 29 0% 48 33.3% 35 45.7% probably_damaging(0.957) tolerated(0.09) deleterious(0.697) HMMPfam_BRO1 ENSG00000250823 0 genome.wustl.edu 37 3 47456185 47456185 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000504649 +1 known NULL 0.001 12 0% 34 41.2% 1 100% - - - - SCAP 22937 genome.wustl.edu 37 3 47484457 47484457 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012235.2 -1 reviewed p.E9 1.000 416 0% 110 51.8% 24 70.8% - - - NULL DHX30 22907 genome.wustl.edu 37 3 47888784 47888784 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138615.2 +1 reviewed p.D651N 0.989 129 0% 58 51.7% 100 53% possibly_damaging(0.837) tolerated(0.29) neutral(0.349) superfamily_P-loop containing nucleoside triphosphate hydrolases DHX30 22907 genome.wustl.edu 37 3 47889786 47889786 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138615.2 +1 reviewed p.E801D 0.998 47 0% 34 44.1% 123 36.5% benign(0) tolerated(0.64) neutral(0.003) superfamily_P-loop containing nucleoside triphosphate hydrolases MAP4 4134 genome.wustl.edu 37 3 47951683 47951683 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030884.3 -1 reviewed p.E17K 0.987 120 0% 62 37.1% 3 0% possibly_damaging(0.847) tolerated(0.11) deleterious(0.597) NULL MAP4 4134 genome.wustl.edu 37 3 47951787 47951787 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000426837 -1 known p.S1392Y 0.812 72 0% 36 38.9% 0 - benign(0.021) tolerated(0.84) neutral(0.002) NULL ZNF589 51385 genome.wustl.edu 37 3 48289152 48289152 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016089.2 +1 validated p.E27D 0.661 255 0% 132 42.4% 12 66.6% benign(0.091) tolerated(0.39) neutral(0.022) NULL PLXNB1 5364 genome.wustl.edu 37 3 48463104 48463104 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130082.1 -1 validated p.I544 1.000 71 0% 31 54.8% 40 50% - - - NULL ATRIP 84126 genome.wustl.edu 37 3 48491531 48491531 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130384.1 +1 reviewed p.F112 0.959 23 0% 132 41.7% 3 0% - - - NULL MIR711 100313843 genome.wustl.edu 37 3 48616397 48616397 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390201 -1 known NULL 0.248 39 0% 35 54.3% 0 - - - - - ENSG00000232483 0 genome.wustl.edu 37 3 48731815 48731815 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000421921 +1 novel NULL 0.008 49 0% 119 39.5% 17 41.1% - - - - ARIH2 10425 genome.wustl.edu 37 3 49011195 49011195 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006321.2 +1 provisional p.T278 0.942 58 0% 129 51.9% 60 51.6% - - - HMMSmart_SM00647 WDR6 11180 genome.wustl.edu 37 3 49049293 49049293 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018031.3 +1 reviewed p.R139H 1.000 112 0% 99 42.4% 75 42.6% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL IMPDH2 3615 genome.wustl.edu 37 3 49062587 49062587 + Silent SNP C C T rs183457824 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000429182 -1 known p.E330K 1.000 50 0% 60 46.7% 265 55.8% - - - HMMPfam_IMPDH,superfamily_Inosine monophosphate dehydrogenase (IMPDH) USP19 10869 genome.wustl.edu 37 3 49151693 49151693 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006677.1 -1 provisional p.L670I 1.000 53 0% 59 32.2% 30 43.3% possibly_damaging(0.93) deleterious(0.03) deleterious(0.741) HMMPfam_UCH,superfamily_Cysteine proteinases LAMB2 3913 genome.wustl.edu 37 3 49161025 49161025 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002292.3 -1 reviewed p.L1279 0.997 31 0% 38 39.5% 136 38.2% - - - NULL LAMB2 3913 genome.wustl.edu 37 3 49169086 49169086 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002292.3 -1 reviewed p.Y177C 1.000 29 0% 32 34.4% 34 38.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_N,HMMSmart_LamNT CCDC36 339834 genome.wustl.edu 37 3 49274102 49274102 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135197.1 +1 validated p.D60N 1.000 139 0% 118 46.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CCDC36 339834 genome.wustl.edu 37 3 49281843 49281843 + Silent SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135197.1 +1 validated p.T134 0.805 39 0% 124 41.9% 0 - - - - NULL CCDC36 339834 genome.wustl.edu 37 3 49282172 49282172 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000366429 +1 known p.S163 0.981 76 0% 101 44.6% 0 - - - - NULL CCDC36 339834 genome.wustl.edu 37 3 49293752 49293752 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135197.1 +1 validated p.S274 0.032 68 0% 43 48.8% 0 - - - - NULL USP4 7375 genome.wustl.edu 37 3 49337952 49337952 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003363.3 -1 validated p.R487Q 1.000 239 0% 125 46.4% 28 42.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_UCH,superfamily_Cysteine proteinases USP4 7375 genome.wustl.edu 37 3 49348061 49348061 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003363.3 -1 validated p.A316T 1.000 283 0% 211 49.3% 18 44.4% possibly_damaging(0.694) tolerated(0.06) deleterious(0.572) HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_Cysteine proteinases NICN1 84276 genome.wustl.edu 37 3 49463841 49463841 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032316.3 -1 reviewed p.K51N 1.000 38 0% 32 43.8% 6 66.6% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL BSN 8927 genome.wustl.edu 37 3 49694069 49694069 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003458.3 +1 reviewed p.S2360 0.000 15 0% 20 30% 0 - - - - NULL BSN 8927 genome.wustl.edu 37 3 49698052 49698052 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003458.3 +1 reviewed p.R2925Q 1.000 12 0% 10 50% 0 - unknown(0) - - NULL MST1 4485 genome.wustl.edu 37 3 49725221 49725221 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020998.3 -1 reviewed p.E68D 1.000 48 0% 52 38.5% 3 66.6% benign(0.22) tolerated(0.34) neutral(0.044) HMMPfam_PAN_1,HMMSmart_SM00473,superfamily_Hairpin loop containing domain-like RNF123 63891 genome.wustl.edu 37 3 49749944 49749944 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022064.2 +1 reviewed p.R843 0.062 61 0% 48 50% 22 27.2% - - - NULL IP6K1 9807 genome.wustl.edu 37 3 49770298 49770298 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153273.3 -1 reviewed p.N181S 1.000 37 0% 23 26.1% 29 37.9% possibly_damaging(0.794) tolerated(0.06) deleterious(0.621) HMMPfam_IPK,superfamily_SAICAR synthase-like RBM5 10181 genome.wustl.edu 37 3 50151655 50151655 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005778.1 +1 provisional p.R604* 1.000 26 0% 67 50.7% 52 25% - - - NULL SLC38A3 10991 genome.wustl.edu 37 3 50252087 50252087 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006841.4 +1 validated p.F62 0.533 45 0% 30 43.3% 0 - - - - NULL GNAI2 2771 genome.wustl.edu 37 3 50294255 50294255 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002070.2 +1 reviewed p.D232Y 1.000 118 0% 146 40.4% 312 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases SEMA3B 7869 genome.wustl.edu 37 3 50308851 50308851 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004636.2 +1 reviewed p.F201 1.000 62 0% 51 43.1% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CACNA2D2 9254 genome.wustl.edu 37 3 50417204 50417204 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005505.1 -1 reviewed p.C315 0.833 47 0% 54 44.4% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like DOCK3 1795 genome.wustl.edu 37 3 51196713 51196713 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004947.3 +1 validated p.I289 1.000 172 0% 128 43% 0 - - - - NULL DOCK3 1795 genome.wustl.edu 37 3 51198011 51198011 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004947.3 +1 validated p.K305N 1.000 131 0% 72 44.4% 0 - benign(0.324) tolerated(0.42) neutral(0.116) NULL DOCK3 1795 genome.wustl.edu 37 3 51251622 51251622 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004947.3 +1 validated p.F399C 1.000 212 0% 100 42% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RBM15B 29890 genome.wustl.edu 37 3 51430341 51430341 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013286.3 +1 validated p.S504L 0.124 17 0% 27 40.7% 122 40.1% benign(0.006) tolerated(0.43) neutral(0.013) superfamily_SSF54928 ENSG00000250864 0 genome.wustl.edu 37 3 51431559 51431559 + RNA SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000506856 -1 novel NULL 0.803 12 0% 21 28.6% 116 43.9% - - - - VPRBP 9730 genome.wustl.edu 37 3 51457860 51457860 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014703.2 -1 validated p.R802Q 1.000 327 0% 99 44.4% 14 50% probably_damaging(0.976) tolerated(0.14) deleterious(0.667) HMMSmart_SM00667,HMMPfam_LisH RAD54L2 23132 genome.wustl.edu 37 3 51664398 51664398 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015106.2 +1 validated p.R198* 1.000 169 0% 84 53.6% 2 50% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases RAD54L2 23132 genome.wustl.edu 37 3 51679177 51679177 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015106.2 +1 validated p.R863H 1.000 306 0% 93 37.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases RAD54L2 23132 genome.wustl.edu 37 3 51696607 51696607 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015106.2 +1 validated p.R1192H 0.017 24 0% 22 40.9% 4 0% benign(0.004) tolerated(0.33) neutral(0.024) NULL IQCF1 132141 genome.wustl.edu 37 3 51928930 51928930 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152397.2 -1 validated p.C198 1.000 86 0% 26 46.2% 0 - - - - NULL RRP9 9136 genome.wustl.edu 37 3 51972149 51972149 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004704.3 -1 provisional p.R81H 1.000 88 0% 47 59.6% 60 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL POC1A 25886 genome.wustl.edu 37 3 52109995 52109995 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015426.4 -1 validated p.S378A 1.000 50 0% 50 40% 42 42.8% benign(0.041) tolerated(0.21) neutral(0.046) NULL DNAH1 25981 genome.wustl.edu 37 3 52431865 52431865 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015512.4 +1 validated p.S3977Y 0.505 70 0% 68 23.5% 1 0% possibly_damaging(0.609) deleterious(0.01) deleterious(0.617) HMMPfam_Dynein_heavy STAB1 23166 genome.wustl.edu 37 3 52535213 52535213 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015136.2 +1 reviewed p.T37M 0.161 24 0% 37 43.2% 0 - benign(0.041) tolerated(0.27) neutral(0.036) NULL NEK4 6787 genome.wustl.edu 37 3 52745802 52745802 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003157.3 -1 validated p.M839I 1.000 95 0% 187 47.6% 18 50% benign(0.003) deleterious(0.03) neutral(0.364) NULL ITIH1 3697 genome.wustl.edu 37 3 52815985 52815985 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002215.2 +1 reviewed p.S239 0.181 127 0% 48 58.3% 0 - - - - NULL ITIH1 3697 genome.wustl.edu 37 3 52823743 52823743 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002215.2 +1 reviewed p.R732W 0.448 54 0% 62 41.9% 0 - benign(0.155) deleterious(0) neutral(0.458) HMMPfam_ITI_HC_C PRKCD 5580 genome.wustl.edu 37 3 53212542 53212542 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006254.3 +1 reviewed p.A35V 0.996 24 0.000 7 0.571 19 47.3% possibly_damaging(0.69) tolerated(0.1) deleterious(0.533) HMMSmart_C2,superfamily_C2_CaLB CACNA1D 776 genome.wustl.edu 37 3 53736669 53736669 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000720.2 +1 validated p.E408* 1.000 84 0% 94 50% 0 - - - - superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53756373 53756373 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000720.2 +1 validated p.R533H 1.000 185 0% 94 44.7% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53783458 53783458 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000720.2 +1 validated p.E1180* 1.000 213 0% 230 44.8% 0 - - - - superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53820926 53820926 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000720.2 +1 validated p.E1644* 1.000 114 0% 115 41.7% 0 - - - - HMMPfam_Ca_chan_IQ CHDH 55349 genome.wustl.edu 37 3 53851900 53851900 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018397.3 -1 validated p.I563 0.044 72 0% 62 37.1% 2 0% - - - HMMPfam_GMC_oxred_C,superfamily_SSF51905 CHDH 55349 genome.wustl.edu 37 3 53852036 53852036 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018397.3 -1 validated p.M518T 1.000 70 0% 48 10.4% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GMC_oxred_C,superfamily_SSF51905 IL17RB 55540 genome.wustl.edu 37 3 53890993 53890993 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018725.3 +1 reviewed p.G218R 0.172 306 0% 314 45.2% 3 0% probably_damaging(0.999) tolerated(0.3) deleterious(0.519) NULL CACNA2D3 55799 genome.wustl.edu 37 3 54537561 54537561 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018398.2 +1 reviewed p.D142Y 1.000 217 0% 100 17% 1 0% benign(0.394) deleterious(0.02) deleterious(0.510) HMMPfam_VWA_N CACNA2D3 55799 genome.wustl.edu 37 3 54933881 54933881 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018398.2 +1 reviewed p.S812Y 1.000 204 0.5% 103 48.5% 0 - possibly_damaging(0.594) deleterious(0.01) deleterious(0.611) NULL CCDC66 285331 genome.wustl.edu 37 3 56598150 56598150 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001141947.1 +1 validated p.K181Q 0.941 45 0% 72 48.6% 8 62.5% benign(0.011) tolerated(0.5) neutral(0.011) NULL FAM208A 23272 genome.wustl.edu 37 3 56662629 56662629 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112736.1 -1 validated p.K1254T 1.000 122 0% 145 46.2% 17 23.5% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL FAM208A 23272 genome.wustl.edu 37 3 56672778 56672778 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112736.1 -1 validated p.S927N 1.000 289 0% 123 39.8% 8 12.5% possibly_damaging(0.692) deleterious(0.01) deleterious(0.653) NULL FAM208A 23272 genome.wustl.edu 37 3 56680718 56680718 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112736.1 -1 validated p.E683* 1.000 530 0% 424 39.9% 9 66.6% - - - NULL FAM208A 23272 genome.wustl.edu 37 3 56681074 56681074 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112736.1 -1 validated p.R564Q 1.000 56 0% 81 45.7% 4 50% probably_damaging(0.994) tolerated(0.21) deleterious(0.496) NULL FAM208A 23272 genome.wustl.edu 37 3 56694767 56694767 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112736.1 -1 validated p.E454* 1.000 337 0% 407 44.7% 3 33.3% - - - NULL FAM208A 23272 genome.wustl.edu 37 3 56705702 56705702 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112736.1 -1 validated p.E166* 1.000 147 0% 199 48.7% 4 50% - - - NULL ARHGEF3 50650 genome.wustl.edu 37 3 56779340 56779340 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128615.1 -1 reviewed p.F287V 1.000 189 0% 185 38.4% 33 36.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,PatternScan_DH_1 ASB14 142686 genome.wustl.edu 37 3 57317240 57317240 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142733.2 -1 reviewed p.E69* 1.000 249 0% 38 47.4% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat DNAH12 201625 genome.wustl.edu 37 3 57368516 57368516 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178504.4 -1 validated p.L2451I 1.000 208 0% 170 42.9% 0 - benign(0.067) tolerated(0.11) neutral(0.276) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57391410 57391410 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178504.4 -1 validated p.I2163 0.088 88 0% 50 44% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH12 201625 genome.wustl.edu 37 3 57430449 57430449 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178504.4 -1 validated p.I1484S 0.991 185 0% 134 45.5% 0 - possibly_damaging(0.561) deleterious(0) deleterious(0.636) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH12 201625 genome.wustl.edu 37 3 57443877 57443877 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178504.4 -1 validated p.I978S 1.000 140 0% 120 44.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 DNAH12 201625 genome.wustl.edu 37 3 57509594 57509594 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178504.4 -1 validated p.R63I 0.008 155 0% 159 45.9% 0 - benign(0.082) deleterious(0.03) neutral(0.370) NULL FAM3D 131177 genome.wustl.edu 37 3 58639413 58639413 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138805.2 -1 validated p.P37T 1.000 73 0% 34 44.1% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) NULL PTPRG 5793 genome.wustl.edu 37 3 61734602 61734602 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002841.3 +1 reviewed p.A46T 0.997 206 0% 86 38.4% 8 62.5% benign(0) deleterious(0) neutral(0.445) NULL PTPRG 5793 genome.wustl.edu 37 3 62142845 62142845 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002841.3 +1 reviewed p.E263K 1.000 200 0% 67 49.3% 21 33.3% benign(0.001) tolerated(0.46) neutral(0.012) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase PTPRG 5793 genome.wustl.edu 37 3 62278218 62278218 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002841.3 +1 reviewed p.V1393A 1.000 255 0% 61 52.5% 35 28.5% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II CADPS 8618 genome.wustl.edu 37 3 62477082 62477082 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000491424 -1 known p.S289P 0.999 243 0% 98 11.2% 2 0% - - - NULL CADPS 8618 genome.wustl.edu 37 3 62477977 62477977 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003716.3 -1 reviewed p.L958I 1.000 167 0% 76 11.8% 0 - possibly_damaging(0.712) deleterious(0.01) deleterious(0.663) NULL CADPS 8618 genome.wustl.edu 37 3 62484866 62484866 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003716.3 -1 reviewed p.L893I 1.000 371 0% 109 12.8% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_DUF1041 CADPS 8618 genome.wustl.edu 37 3 62518673 62518673 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000491424 -1 known p.P28Q 1.000 146 0% 13 53.8% 0 - - - - NULL SYNPR 132204 genome.wustl.edu 37 3 63594804 63594804 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130003.1 +1 validated p.F138V 1.000 617 0% 108 42.6% 0 - possibly_damaging(0.61) deleterious(0.01) deleterious(0.617) HMMPfam_MARVEL SNTN 132203 genome.wustl.edu 37 3 63649722 63649722 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080537.1 +1 provisional p.V132A 0.079 145 0% 54 44.4% 0 - possibly_damaging(0.473) deleterious(0.02) deleterious(0.539) superfamily_SSF47473 MAGI1 9223 genome.wustl.edu 37 3 65347011 65347011 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033057.1 -1 reviewed p.I1166S 1.000 263 0% 110 45.5% 16 81.2% benign(0.026) deleterious(0) neutral(0.446) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI1 9223 genome.wustl.edu 37 3 65349223 65349223 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033057.1 -1 reviewed p.R1138* 1.000 150 0% 35 42.9% 15 26.6% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI1 9223 genome.wustl.edu 37 3 65415473 65415473 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033057.1 -1 reviewed p.S630Y 1.000 218 0% 64 39.1% 7 28.5% possibly_damaging(0.949) deleterious(0) deleterious(0.838) superfamily_PDZ domain-like ENSG00000206759 0 genome.wustl.edu 37 3 66343617 66343617 + RNA SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000384032 -1 novel NULL 0.035 71 0% 40 30% 0 - - - - - LRIG1 26018 genome.wustl.edu 37 3 66433550 66433550 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015541.2 -1 validated p.A783T 0.000 99 0% 23 47.8% 238 57.1% benign(0.001) tolerated(0.76) neutral(0.001) NULL LRIG1 26018 genome.wustl.edu 37 3 66433734 66433734 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015541.2 -1 validated p.P721 0.000 67 3% 16 43.8% 183 42.6% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LRIG1 26018 genome.wustl.edu 37 3 66436539 66436539 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015541.2 -1 validated p.D552G 0.402 243 0% 102 48% 163 52.1% benign(0.004) tolerated(0.39) neutral(0.016) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KBTBD8 84541 genome.wustl.edu 37 3 67053657 67053657 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032505.2 +1 validated p.K63T 1.000 195 0% 107 50.5% 0 - possibly_damaging(0.464) tolerated(0.41) neutral(0.167) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB KBTBD8 84541 genome.wustl.edu 37 3 67053970 67053970 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032505.2 +1 validated p.K167N 1.000 94 0% 67 52.2% 0 - benign(0.14) tolerated(0.2) neutral(0.061) HMMPfam_BACK FAM19A4 151647 genome.wustl.edu 37 3 68788316 68788316 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005527.1 -1 reviewed p.M107I 1.000 239 0% 48 41.7% 0 - probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL TMF1 7110 genome.wustl.edu 37 3 69087783 69087783 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007114.2 -1 validated p.E695* 1.000 223 0% 167 49.7% 17 17.6% - - - NULL TMF1 7110 genome.wustl.edu 37 3 69097078 69097078 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007114.2 -1 validated p.E260* 1.000 45 0% 59 30.5% 12 8.3% - - - NULL FRMD4B 23150 genome.wustl.edu 37 3 69244248 69244248 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015123.1 -1 validated p.G471 0.634 205 0% 169 40.8% 7 42.8% - - - NULL FOXP1 27086 genome.wustl.edu 37 3 71021296 71021296 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000327590 -1 known p.A563D 1.000 4 0.000 15 0.533 1 100% benign(0.29) - - NULL RYBP 23429 genome.wustl.edu 37 3 72428419 72428419 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012234.4 -1 validated p.N96K 0.998 707 0% 355 39.2% 49 44.8% possibly_damaging(0.662) tolerated(0.52) neutral(0.243) NULL PPP4R2 151987 genome.wustl.edu 37 3 73114187 73114187 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174907.2 +1 provisional p.E275* 0.990 112 0% 39 43.6% 43 23.2% - - - NULL ZNF717 100131827 genome.wustl.edu 37 3 75786289 75786289 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128223.1 -1 validated p.L829I 0.010 113 0.9% 52 63.5% 0 - possibly_damaging(0.924) deleterious(0.04) deleterious(0.722) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ROBO1 6091 genome.wustl.edu 37 3 78719422 78719422 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002941.3 -1 reviewed p.R458* 1.000 42 0% 27 33.3% 18 11.1% - - - HMMPfam_I-set,superfamily_Immunoglobulin GBE1 2632 genome.wustl.edu 37 3 81539564 81539564 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000158.3 -1 reviewed p.R701Q 0.216 194 0.5% 28 53.6% 84 30.9% - - - NULL POU1F1 5449 genome.wustl.edu 37 3 87309172 87309172 + Nonsense_Mutation SNP C C A rs104893760 byCluster TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122757.1 -1 reviewed p.E276* 1.000 141 0% 66 34.8% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 PROS1 5627 genome.wustl.edu 37 3 93595919 93595919 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000313.3 -1 reviewed p.S587 0.000 160 0% 124 53.2% 4 0% - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 PROS1 5627 genome.wustl.edu 37 3 93598059 93598059 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000313.3 -1 reviewed p.N531S 0.876 86 0% 39 64.1% 4 0% benign(0.002) tolerated(0.53) neutral(0.007) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 PROS1 5627 genome.wustl.edu 37 3 93603737 93603737 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000313.3 -1 reviewed p.N443D 1.000 130 0% 104 44.2% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 PROS1 5627 genome.wustl.edu 37 3 93619774 93619774 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000313.3 -1 reviewed e7-1 1.000 123 0.8% 59 52.5% 0 - - - - - PROS1 5627 genome.wustl.edu 37 3 93624973 93624973 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000313.3 -1 reviewed p.C121R 1.000 110 0% 75 46.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 NSUN3 63899 genome.wustl.edu 37 3 93803192 93803192 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022072.3 +1 provisional p.L122I 0.999 174 0% 148 37.8% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nol1_Nop2_Fmu,superfamily_SSF53335 EPHA6 285220 genome.wustl.edu 37 3 96533745 96533745 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080448.2 +1 provisional p.R93I 0.001 13 0% 24 50% 0 - benign(0.303) deleterious(0) deleterious(0.538) NULL EPHA6 285220 genome.wustl.edu 37 3 97202879 97202879 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080448.2 +1 provisional p.R726C 1.000 93 0% 99 34.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) OR5H6 79295 genome.wustl.edu 37 3 97984015 97984015 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005479.1 +1 provisional p.V296G 0.003 116 0% 53 37.7% 0 - possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_7tm_1,superfamily_SSF81321 OR5H2 79310 genome.wustl.edu 37 3 98001737 98001737 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005482.1 +1 provisional p.S2 0.000 173 0% 51 51% 0 - - - - superfamily_SSF81321 OR5H2 79310 genome.wustl.edu 37 3 98002001 98002001 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005482.1 +1 provisional p.F90L 0.002 246 0% 85 11.8% 0 - benign(0.006) tolerated(0.25) neutral(0.037) HMMPfam_7tm_1,superfamily_SSF81321 OR5H2 79310 genome.wustl.edu 37 3 98002206 98002206 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005482.1 +1 provisional p.L159I 0.000 156 0% 79 39.2% 0 - benign(0.006) tolerated(0.33) neutral(0.024) HMMPfam_7tm_1,superfamily_SSF81321 OR5H2 79310 genome.wustl.edu 37 3 98002514 98002514 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005482.1 +1 provisional p.I261 0.867 194 0% 81 40.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5K4 403278 genome.wustl.edu 37 3 98073490 98073490 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005517.1 +1 provisional p.G265* 0.127 242 0% 65 36.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5K3 403277 genome.wustl.edu 37 3 98109819 98109819 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005516.1 +1 provisional p.L104I 0.986 659 0.2% 118 43.2% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_7tm_1,superfamily_SSF81321 CPOX 1371 genome.wustl.edu 37 3 98309956 98309956 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000097.5 -1 reviewed p.F200 1.000 122 0% 165 45.5% 20 40% - - - HMMPfam_Coprogen_oxidas,superfamily_Coprogen_oxidas FILIP1L 11259 genome.wustl.edu 37 3 99568782 99568782 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182909.2 -1 validated p.D580Y 1.000 196 0% 71 47.9% 10 10% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL C3orf26 84319 genome.wustl.edu 37 3 99895197 99895197 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032359.3 +1 validated p.F232V 1.000 235 0% 133 47.4% 72 43% benign(0.146) tolerated(0.5) neutral(0.022) superfamily_SSF52540 TBC1D23 55773 genome.wustl.edu 37 3 100039799 100039799 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018309.2 +1 validated p.I653V 1.000 84 0% 112 56.2% 9 66.6% benign(0.002) tolerated(0.2) neutral(0.049) NULL LNP1 348801 genome.wustl.edu 37 3 100170663 100170663 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001085451.1 +1 validated p.R86I 0.396 158 0% 70 40% 4 25% possibly_damaging(0.733) deleterious(0.02) deleterious(0.651) NULL TMEM45A 55076 genome.wustl.edu 37 3 100274241 100274241 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018004.1 +1 provisional p.L62F 0.017 364 0% 199 50.8% 30 50% probably_damaging(0.978) tolerated(0.34) neutral(0.444) NULL GPR128 84873 genome.wustl.edu 37 3 100364905 100364905 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032787.2 +1 validated p.N355Y 0.000 128 0% 115 40.9% 0 - possibly_damaging(0.834) deleterious(0.05) deleterious(0.663) NULL ABI3BP 25890 genome.wustl.edu 37 3 100497178 100497178 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015429.3 -1 validated p.R717Q 0.497 380 0% 81 39.5% 2 0% possibly_damaging(0.925) tolerated(0.14) deleterious(0.623) NULL ABI3BP 25890 genome.wustl.edu 37 3 100523681 100523681 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015429.3 -1 validated p.K568E 0.970 290 0% 58 34.5% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL IMPG2 50939 genome.wustl.edu 37 3 100962659 100962659 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016247.2 -1 validated p.S839L 1.000 454 0.2% 71 40.8% 0 - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL IMPG2 50939 genome.wustl.edu 37 3 101038576 101038576 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016247.2 -1 validated p.K62N 0.039 283 0% 51 37.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SENP7 57337 genome.wustl.edu 37 3 101051738 101051738 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000394085 -1 known p.L5V 0.002 59 0% 74 48.6% 1 0% unknown(0) - - superfamily_SSF54001 SENP7 57337 genome.wustl.edu 37 3 101062618 101062618 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020654.3 -1 validated p.S673Y 1.000 118 0% 65 43.1% 4 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SENP7 57337 genome.wustl.edu 37 3 101085529 101085529 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020654.3 -1 validated p.E355* 0.088 143 0% 89 39.3% 2 50% - - - NULL RG9MTD1 54931 genome.wustl.edu 37 3 101283658 101283658 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017819.2 +1 provisional p.V11 0.000 178 0% 241 43.2% 18 77.7% - - - NULL ZBTB11 27107 genome.wustl.edu 37 3 101384127 101384127 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014415.3 -1 validated p.S435Y 0.014 99 0% 121 38% 7 28.5% possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL FAM55C 91775 genome.wustl.edu 37 3 101520664 101520664 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134456.1 +1 validated p.V227M 0.988 54 0% 27 33.3% 6 83.3% benign(0.218) tolerated(0.07) neutral(0.341) HMMPfam_Neurexophilin NFKBIZ 64332 genome.wustl.edu 37 3 101571022 101571022 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031419.2 +1 reviewed p.R128Q 1.000 100 0% 85 41.2% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL CBLB 868 genome.wustl.edu 37 3 105400574 105400574 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170662.3 -1 validated p.L764V 1.000 192 0% 103 47.6% 23 52.1% benign(0) deleterious(0) neutral(0.445) NULL CCDC54 84692 genome.wustl.edu 37 3 107097309 107097309 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032600.2 +1 provisional p.R292I 0.005 291 0% 82 43.9% 0 - possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) NULL DZIP3 9666 genome.wustl.edu 37 3 108388540 108388540 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014648.3 +1 validated p.Q812H 0.974 371 0.3% 99 42.4% 11 54.5% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MORC1 27136 genome.wustl.edu 37 3 108778680 108778680 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014429.3 -1 reviewed p.K335M 1.000 530 0% 182 54.4% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL MORC1 27136 genome.wustl.edu 37 3 108788485 108788485 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014429.3 -1 reviewed p.R270I 1.000 272 0% 108 41.7% 0 - possibly_damaging(0.805) deleterious(0.04) deleterious(0.652) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase DPPA4 55211 genome.wustl.edu 37 3 109050618 109050618 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018189.3 -1 validated p.Y118C 0.047 220 0% 130 36.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CD96 10225 genome.wustl.edu 37 3 111325557 111325557 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198196.2 +1 reviewed p.I382M 0.000 111 0% 87 33.3% 1 0% benign(0) tolerated(0.08) neutral(0.300) NULL PHLDB2 90102 genome.wustl.edu 37 3 111603771 111603771 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134438.1 +1 validated p.R283* 0.112 121 0.8% 63 46% 0 - - - - NULL TMPRSS7 344805 genome.wustl.edu 37 3 111769524 111769524 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042575.2 +1 validated p.E240G 1.000 129 0% 46 39.1% 0 - benign(0) tolerated(0.86) neutral(0.001) HMMPfam_CUB,superfamily_Spermadhesin CUB domain TMPRSS7 344805 genome.wustl.edu 37 3 111780671 111780671 + Silent SNP C C A rs340142 byCluster;byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042575.2 +1 validated p.R324 1.000 222 0% 53 54.7% 0 - - - - superfamily_Spermadhesin CUB domain SLC9A10 285335 genome.wustl.edu 37 3 111927107 111927107 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183061.1 -1 validated p.Q635R 0.000 100 0% 68 48.5% 0 - benign(0.001) tolerated(0.56) neutral(0.006) superfamily_Voltage-gated potassium channels SLC9A10 285335 genome.wustl.edu 37 3 111927119 111927119 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183061.1 -1 validated p.S631Y 0.994 90 0% 74 43.2% 0 - probably_damaging(0.982) tolerated(0.23) neutral(0.468) superfamily_Voltage-gated potassium channels ATG3 64422 genome.wustl.edu 37 3 112253070 112253070 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000402314 -1 known p.T303 0.000 229 1.7% 82 48.8% 0 - - - - NULL C3orf17 25871 genome.wustl.edu 37 3 112724492 112724492 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015412.3 -1 validated p.E532G 0.000 545 0% 125 24% 52 19.2% benign(0.001) tolerated(0.23) neutral(0.042) NULL C3orf17 25871 genome.wustl.edu 37 3 112729911 112729911 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015412.3 -1 validated p.K298N 0.015 178 0% 101 52.5% 34 50% possibly_damaging(0.566) tolerated(0.07) deleterious(0.512) NULL KIAA2018 205717 genome.wustl.edu 37 3 113377595 113377595 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009899.2 -1 validated p.I978 0.269 111 0% 66 36.4% 4 50% - - - NULL ATP6V1A 523 genome.wustl.edu 37 3 113503220 113503220 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001690.2 +1 reviewed p.G121R 1.000 194 0% 89 38.2% 30 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1407 57577 genome.wustl.edu 37 3 113753944 113753944 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020817.1 -1 predicted p.E216* 0.891 377 0.3% 157 40.1% 1 0% - - - NULL QTRTD1 79691 genome.wustl.edu 37 3 113786842 113786842 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024638.2 +1 provisional p.E89* 1.000 607 0% 147 40.8% 7 0% - - - superfamily_tRNA_ribo_trans ZNF80 7634 genome.wustl.edu 37 3 113955196 113955196 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007136.3 -1 validated p.E242D 1.000 146 0% 122 41% 0 - possibly_damaging(0.441) tolerated(0.05) deleterious(0.489) superfamily_SSF57667 ZNF80 7634 genome.wustl.edu 37 3 113955396 113955396 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007136.3 -1 validated p.L176V 0.001 168 0% 108 43.5% 0 - possibly_damaging(0.589) deleterious(0.01) deleterious(0.609) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LSAMP 4045 genome.wustl.edu 37 3 115805269 115805269 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002338.3 -1 reviewed p.R97Q 1.000 201 0.5% 58 50% 2 0% possibly_damaging(0.458) tolerated(0.41) neutral(0.165) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 B4GALT4 8702 genome.wustl.edu 37 3 118945829 118945829 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003778.3 -1 reviewed p.N105H 1.000 117 0% 58 12.1% 31 16.1% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases POGLUT1 56983 genome.wustl.edu 37 3 119198923 119198923 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152305.2 +1 validated p.Y161C 1.000 206 0% 109 42.2% 6 33.3% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMSmart_SM00672,HMMPfam_DUF821 TIMMDC1 51300 genome.wustl.edu 37 3 119219553 119219553 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016589.3 +1 validated p.R69I 0.001 235 0% 141 51.8% 53 43.3% benign(0.069) tolerated(0.05) neutral(0.350) NULL POPDC2 64091 genome.wustl.edu 37 3 119373456 119373456 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022135.2 -1 reviewed p.R166C 1.000 130 0% 33 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Popeye,superfamily_cAMP-binding domain-like GSK3B 2932 genome.wustl.edu 37 3 119666194 119666194 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002093.3 -1 reviewed p.R96Q 1.000 136 0% 55 41.8% 15 60% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GSK3B 2932 genome.wustl.edu 37 3 119812193 119812193 + Splice_Site SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002093.3 -1 reviewed e1+1 1.000 64 0% 93 44.1% 1 100% - - - - STXBP5L 9515 genome.wustl.edu 37 3 120628481 120628481 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014980.2 +1 validated p.G19D 1.000 88 0% 94 11.7% 0 - possibly_damaging(0.49) tolerated(0.34) neutral(0.186) NULL STXBP5L 9515 genome.wustl.edu 37 3 120941972 120941972 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014980.2 +1 validated p.F360C 1.000 148 0% 45 37.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like,HMMPfam_LLGL STXBP5L 9515 genome.wustl.edu 37 3 120957912 120957912 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014980.2 +1 validated p.L427I 1.000 73 0% 34 50% 0 - benign(0.422) tolerated(0.05) deleterious(0.482) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 STXBP5L 9515 genome.wustl.edu 37 3 121100163 121100163 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014980.2 +1 validated p.R815C 1.000 90 0% 39 48.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL STXBP5L 9515 genome.wustl.edu 37 3 121132018 121132018 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014980.2 +1 validated p.R1012C 1.000 226 0% 50 48% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL STXBP5L 9515 genome.wustl.edu 37 3 121134764 121134764 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014980.2 +1 validated p.L1083I 1.000 193 0% 57 43.9% 0 - possibly_damaging(0.59) deleterious(0.01) deleterious(0.610) NULL POLQ 10721 genome.wustl.edu 37 3 121151779 121151779 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199420.3 -1 validated p.E2549* 1.000 196 0% 58 51.7% 11 63.6% - - - HMMPfam_DNA_pol_A,HMMSmart_SM00482,superfamily_DNA/RNA polymerases POLQ 10721 genome.wustl.edu 37 3 121258412 121258412 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199420.3 -1 validated p.K167Q 1.000 151 0% 94 39.4% 3 100% benign(0.08) deleterious(0.04) neutral(0.354) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ARGFX 503582 genome.wustl.edu 37 3 121305072 121305072 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012659.1 +1 validated p.W191* 0.000 460 0% 176 45.5% 0 - - - - NULL GOLGB1 2804 genome.wustl.edu 37 3 121415008 121415008 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004487.3 -1 validated p.E1449 0.952 215 0% 100 46% 5 20% - - - superfamily_Prefoldin GOLGB1 2804 genome.wustl.edu 37 3 121416396 121416396 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004487.3 -1 validated p.E987* 1.000 92 0% 70 17.1% 10 0% - - - superfamily_Spectrin repeat IQCB1 9657 genome.wustl.edu 37 3 121518129 121518129 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001023570.2 -1 reviewed p.R227K 1.000 98 0% 28 39.3% 7 14.2% possibly_damaging(0.451) tolerated(0.2) neutral(0.197) NULL CD86 942 genome.wustl.edu 37 3 121838341 121838341 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175862.3 +1 reviewed p.S317L 0.000 99 0% 76 48.7% 6 0% unknown(0) tolerated(1) - NULL CASR 846 genome.wustl.edu 37 3 121975969 121975969 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000388.3 +1 reviewed p.F76C 1.000 203 0% 125 48.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CASR 846 genome.wustl.edu 37 3 121976107 121976107 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000388.3 +1 reviewed p.S122Y 1.000 178 0.6% 109 45.9% 0 - probably_damaging(0.992) tolerated(0.2) deleterious(0.496) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CCDC58 131076 genome.wustl.edu 37 3 122090611 122090611 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017928.2 -1 validated p.I30L 1.000 155 0% 101 49.5% 45 55.5% probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_Cid2 FAM162A 26355 genome.wustl.edu 37 3 122121679 122121679 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014367.3 +1 validated p.R36K 0.025 217 0% 126 32.5% 490 47.9% benign(0.032) tolerated(0.22) neutral(0.044) HMMPfam_DUF1075 PARP15 165631 genome.wustl.edu 37 3 122334619 122334619 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152615.1 +1 validated p.Y21* 0.773 120 0% 122 42.6% 0 - - - - NULL PARP15 165631 genome.wustl.edu 37 3 122354883 122354883 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113523.1 +1 validated p.K658T 0.000 332 0% 110 45.5% 0 - benign(0.008) tolerated(0.61) neutral(0.004) HMMPfam_PARP,superfamily_ADP-ribosylation PARP14 54625 genome.wustl.edu 37 3 122419377 122419377 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017554.2 +1 validated p.K659T 0.000 44 0% 41 41.5% 5 100% benign(0.002) tolerated(0.36) neutral(0.020) NULL PARP14 54625 genome.wustl.edu 37 3 122437795 122437795 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017554.2 +1 validated p.T1599 0.000 103 0% 37 40.5% 26 65.3% - - - NULL ADCY5 111 genome.wustl.edu 37 3 123010005 123010005 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183357.1 -1 validated p.V1094 0.925 44 0% 24 41.7% 0 - - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase KALRN 8997 genome.wustl.edu 37 3 123987718 123987718 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024660.3 +1 reviewed p.F193L 1.000 80 0% 33 42.4% 6 16.6% probably_damaging(0.986) tolerated(0.15) deleterious(0.675) HMMPfam_Spectrin,HMMSmart_SM00150 KALRN 8997 genome.wustl.edu 37 3 124044891 124044891 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024660.3 +1 reviewed p.Y384C 1.000 92 0% 30 50% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat KALRN 8997 genome.wustl.edu 37 3 124117549 124117549 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024660.3 +1 reviewed p.S724L 1.000 40 0% 22 27.3% 3 66.6% benign(0) tolerated(0.06) neutral(0.323) HMMSmart_SM00150,superfamily_Spectrin repeat UMPS 7372 genome.wustl.edu 37 3 124449412 124449412 + Missense_Mutation SNP C C G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000373.3 +1 reviewed p.L32V 0.180 89 0% 45 13.3% 30 23.3% benign(0.001) tolerated(0.23) neutral(0.042) superfamily_PRTase-like MUC13 56667 genome.wustl.edu 37 3 124627191 124627191 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033049.2 -1 validated p.N447D 0.078 113 0% 79 34.2% 1 0% possibly_damaging(0.649) tolerated(0.18) neutral(0.284) NULL MUC13 56667 genome.wustl.edu 37 3 124642454 124642454 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033049.2 -1 validated p.S185L 0.132 139 0% 104 42.3% 0 - possibly_damaging(0.896) deleterious(0.03) deleterious(0.718) HMMSmart_SM00181,superfamily_EGF/Laminin ZNF148 7707 genome.wustl.edu 37 3 124952143 124952143 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021964.2 -1 validated p.Y476C 1.000 206 0% 39 20.5% 24 8.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNX4 8723 genome.wustl.edu 37 3 125199091 125199091 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003794.2 -1 reviewed p.A242 0.994 125 0% 60 51.7% 36 52.7% - - - NULL SNX4 8723 genome.wustl.edu 37 3 125208288 125208288 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003794.2 -1 reviewed p.A206V 1.000 171 0% 245 48.2% 48 43.7% benign(0.282) deleterious(0.04) neutral(0.435) NULL KLF15 28999 genome.wustl.edu 37 3 126071033 126071033 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014079.3 -1 validated p.N245D 0.340 9 0.000 24 0.375 3 33.3% benign(0.004) tolerated(0.79) neutral(0.001) NULL UROC1 131669 genome.wustl.edu 37 3 126220075 126220075 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144639.2 -1 reviewed p.N317 0.993 59 0% 113 44.2% 0 - - - - HMMPfam_Urocanase,superfamily_Urocanase NUP210P1 255330 genome.wustl.edu 37 3 126380716 126380716 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_040326.2 +1 model NULL 0.996 26 0% 30 36.7% 0 - - - - - PODXL2 50512 genome.wustl.edu 37 3 127379726 127379726 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015720.2 +1 validated p.A285 0.000 24 0% 17 35.3% 44 54.5% - - - NULL KIAA1257 57501 genome.wustl.edu 37 3 128696996 128696996 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020741.2 -1 predicted p.L234V 0.000 357 0% 302 43.4% 0 - probably_damaging(0.981) deleterious(0.05) deleterious(0.771) NULL CCDC48 79825 genome.wustl.edu 37 3 128751712 128751712 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000480450 +1 known p.E396K 0.736 22 0% 31 35.5% 0 - benign(0.35) tolerated(0.22) neutral(0.153) NULL COPG1 22820 genome.wustl.edu 37 3 128994036 128994036 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016128.3 +1 validated e23-1 1.000 262 0% 213 45.1% 1 0% - - - - C3orf25 90288 genome.wustl.edu 37 3 129137112 129137112 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000326085 -1 known p.I222 0.002 153 0% 42 40.5% 1 100% - - - superfamily_SSF47473 LOC100288961 100288961 genome.wustl.edu 37 3 129140408 129140408 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342397.1 +1 model p.L52V 0.002 317 0% 98 46.9% 2 100% possibly_damaging(0.924) deleterious(0.03) deleterious(0.738) NULL MBD4 8930 genome.wustl.edu 37 3 129155413 129155413 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003925.1 -1 reviewed p.I358 0.014 187 0% 177 42.9% 49 26.5% - - - NULL MBD4 8930 genome.wustl.edu 37 3 129156083 129156083 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003925.1 -1 reviewed p.S135Y 0.532 59 0% 78 42.3% 23 34.7% benign(0.155) tolerated(0.18) neutral(0.070) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain MBD4 8930 genome.wustl.edu 37 3 129158616 129158616 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003925.1 -1 reviewed p.T21A 0.000 29 0% 28 42.9% 20 40% unknown(0) tolerated(0.41) - NULL IFT122 55764 genome.wustl.edu 37 3 129180095 129180095 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000512157 +1 known p.L86I 1.000 334 0% 214 40.7% 4 25% probably_damaging(0.962) deleterious(0.03) deleterious(0.770) HMMSmart_SM00320,superfamily_WD40 repeat-like COL6A5 256076 genome.wustl.edu 37 3 130095105 130095105 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153264.5 +1 validated p.V31 0.087 172 0% 38 44.7% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130095663 130095663 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153264.5 +1 validated p.V217 0.000 124 0% 25 64% 0 - - - - NULL COL6A5 256076 genome.wustl.edu 37 3 130107815 130107815 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153264.5 +1 validated p.R752W 0.941 188 0% 34 35.3% 0 - probably_damaging(1) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130114217 130114217 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153264.5 +1 validated p.K1159N 0.479 69 0% 48 27.1% 0 - possibly_damaging(0.868) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130137737 130137737 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153264.5 +1 validated p.L1638I 0.000 236 0% 35 42.9% 0 - benign(0) - - HMMPfam_Collagen COL6A5 256076 genome.wustl.edu 37 3 130174364 130174364 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153264.5 +1 validated p.S2215Y 0.000 78 0% 26 100% 0 - benign(0.003) - - NULL COL6A6 131873 genome.wustl.edu 37 3 130284134 130284134 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102608.1 +1 provisional p.F320V 0.957 73 0% 56 37.5% 0 - probably_damaging(1) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A6 131873 genome.wustl.edu 37 3 130300892 130300892 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102608.1 +1 provisional p.S1317Y 1.000 281 0% 296 35.1% 0 - possibly_damaging(0.681) deleterious(0) deleterious(0.688) HMMSmart_SM00327,superfamily_vWA-like COL6A6 131873 genome.wustl.edu 37 3 130394107 130394107 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102608.1 +1 provisional p.F2220V 0.993 177 0% 97 46.4% 0 - probably_damaging(0.957) - - NULL ATP2C1 27032 genome.wustl.edu 37 3 130714929 130714929 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001486.1 +1 reviewed p.K700N 1.000 49 0% 52 50% 67 53.7% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_Calcium ATPase transmembrane domain M ASTE1 28990 genome.wustl.edu 37 3 130743013 130743013 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014065.2 -1 validated p.L380I 0.983 178 0% 109 44% 6 16.6% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL ASTE1 28990 genome.wustl.edu 37 3 130743298 130743298 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014065.2 -1 validated p.R285* 0.009 205 0% 117 40.2% 4 50% - - - NULL MRPL3 11222 genome.wustl.edu 37 3 131220529 131220529 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000511168 -1 known p.S56P 0.909 48 0% 97 45.4% 140 42.8% - - - NULL DNAJC13 23317 genome.wustl.edu 37 3 132172911 132172911 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015268.3 +1 validated p.V281A 1.000 35 0% 69 40.6% 2 0% possibly_damaging(0.734) deleterious(0) deleterious(0.713) NULL DNAJC13 23317 genome.wustl.edu 37 3 132209855 132209855 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015268.3 +1 validated p.E1195* 1.000 23 0% 26 61.5% 4 25% - - - superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132213003 132213003 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015268.3 +1 validated p.D1281Y 1.000 44 0% 40 45% 3 0% probably_damaging(0.989) deleterious(0.05) deleterious(0.785) superfamily_ARM repeat NPHP3 27031 genome.wustl.edu 37 3 132407706 132407706 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153240.3 -1 reviewed p.E971D 1.000 52 0% 35 51.4% 12 66.6% probably_damaging(0.985) tolerated(0.23) deleterious(0.473) HMMSmart_SM00028,superfamily_TPR-like NPHP3 27031 genome.wustl.edu 37 3 132424594 132424594 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153240.3 -1 reviewed p.I447S 1.000 49 0% 74 35.1% 3 33.3% benign(0.023) deleterious(0.01) neutral(0.407) NULL TF 7018 genome.wustl.edu 37 3 133475801 133475801 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001063.3 +1 reviewed p.R273Q 0.995 91 0% 42 38.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II SLCO2A1 6578 genome.wustl.edu 37 3 133653613 133653613 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005630.2 -1 validated p.W626G 1.000 132 0% 59 42.4% 8 75% unknown(0) deleterious(0) - superfamily_MFS_gen_substrate_transporter KY 339855 genome.wustl.edu 37 3 134366278 134366278 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178554.4 -1 validated p.H66 0.161 117 0% 235 40% 0 - - - - NULL EPHB1 2047 genome.wustl.edu 37 3 134514528 134514528 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004441.4 +1 reviewed p.E19K 1.000 28 0% 10 60% 0 - benign(0.005) deleterious(0) neutral(0.445) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like EPHB1 2047 genome.wustl.edu 37 3 134977865 134977865 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004441.4 +1 reviewed p.R953I 1.000 150 0% 66 50% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain PPP2R3A 5523 genome.wustl.edu 37 3 135720957 135720957 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002718.3 +1 reviewed p.S206F 1.000 117 0% 29 27.6% 2 50% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL PPP2R3A 5523 genome.wustl.edu 37 3 135721828 135721828 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002718.3 +1 reviewed p.D496 0.820 55 0% 33 30.3% 6 50% - - - NULL PPP2R3A 5523 genome.wustl.edu 37 3 135722118 135722118 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002718.3 +1 reviewed p.R593Q 1.000 140 0% 34 41.2% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MSL2 55167 genome.wustl.edu 37 3 135870401 135870401 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018133.3 -1 validated p.H441R 1.000 140 0% 141 44% 18 38.8% benign(0) tolerated(0.17) neutral(0.059) NULL MSL2 55167 genome.wustl.edu 37 3 135870847 135870847 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018133.3 -1 validated p.P292 0.736 104 0% 76 43.4% 13 61.5% - - - NULL MSL2 55167 genome.wustl.edu 37 3 135871184 135871184 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018133.3 -1 validated p.S180I 0.998 126 0% 80 51.2% 10 30% possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) NULL STAG1 10274 genome.wustl.edu 37 3 136196197 136196197 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005862.2 -1 reviewed p.K320N 1.000 277 0% 134 44% 32 46.8% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_ARM-type_fold SLC35G2 80723 genome.wustl.edu 37 3 136574302 136574302 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001097599.1 +1 validated p.G334* 1.000 552 0% 208 39.4% 1 0% - - - HMMPfam_DUF6,superfamily_SSF103481 SOX14 8403 genome.wustl.edu 37 3 137484272 137484272 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004189.2 +1 reviewed p.V216I 0.999 27 0% 14 50% 0 - benign(0.35) deleterious(0.01) deleterious(0.517) NULL CLDN18 51208 genome.wustl.edu 37 3 137729266 137729266 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016369.3 +1 validated p.F67V 0.987 136 0% 20 55% 1 0% benign(0) tolerated(0.08) neutral(0.300) HMMPfam_PMP22_Claudin DZIP1L 199221 genome.wustl.edu 37 3 137807227 137807227 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173543.2 -1 validated p.E331D 0.000 86 0% 27 51.9% 0 - benign(0.001) tolerated(0.6) neutral(0.004) NULL NME9 347736 genome.wustl.edu 37 3 138033250 138033250 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178130.2 -1 provisional e4-1 1.000 178 0.6% 137 38.7% 0 - - - - - NME9 347736 genome.wustl.edu 37 3 138037034 138037034 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178130.2 -1 provisional p.E53K 0.230 174 0% 116 43.1% 0 - benign(0.15) tolerated(0.17) neutral(0.072) superfamily_Thiordxn-like_fd PRR23C 389152 genome.wustl.edu 37 3 138762842 138762842 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134657.1 -1 validated p.E207D 0.000 84 0% 42 57.1% 0 - benign(0.39) tolerated(0.1) neutral(0.411) HMMPfam_DUF2476 COPB2 9276 genome.wustl.edu 37 3 139088134 139088134 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004766.2 -1 validated p.L457R 1.000 133 0% 50 48% 116 39.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Coatomer_WDAD,superfamily_Amine_DH_B_like CLSTN2 64084 genome.wustl.edu 37 3 140277680 140277680 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022131.2 +1 validated p.P674 0.000 73 0% 30 33.3% 2 50% - - - NULL ZBTB38 253461 genome.wustl.edu 37 3 141161649 141161649 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080412.2 +1 validated p.E140G 0.564 104 0% 61 39.3% 2 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL ZBTB38 253461 genome.wustl.edu 37 3 141163082 141163082 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080412.2 +1 validated p.F618L 0.874 82 0% 49 53.1% 8 37.5% possibly_damaging(0.791) tolerated(0.32) neutral(0.321) NULL RASA2 5922 genome.wustl.edu 37 3 141326558 141326558 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006506.2 +1 reviewed p.L658I 1.000 47 0% 54 40.7% 4 50% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ATP1B3 483 genome.wustl.edu 37 3 141595722 141595722 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001679.2 +1 reviewed p.E27* 1.000 8 0.000 14 0.500 44 11.3% - - - HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_1 XRN1 54464 genome.wustl.edu 37 3 142142427 142142427 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019001.3 -1 validated p.R229* 1.000 161 0% 238 45% 2 0% - - - NULL XRN1 54464 genome.wustl.edu 37 3 142145634 142145634 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019001.3 -1 validated p.E120* 1.000 212 0.5% 278 43.5% 2 0% - - - HMMPfam_XRN_N ATR 545 genome.wustl.edu 37 3 142232477 142232477 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001184.3 -1 reviewed p.R1503* 1.000 179 0.6% 76 34.2% 1 0% - - - superfamily_ARM repeat ATR 545 genome.wustl.edu 37 3 142257449 142257449 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001184.3 -1 reviewed p.V1200 1.000 126 0% 38 31.6% 1 0% - - - HMMPfam_UME,HMMSmart_SM00802,superfamily_ARM repeat ATR 545 genome.wustl.edu 37 3 142272169 142272169 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001184.3 -1 reviewed p.S902Y 1.000 117 0% 61 9.8% 5 0% probably_damaging(0.983) tolerated(0.57) neutral(0.435) superfamily_ARM repeat TRPC1 7220 genome.wustl.edu 37 3 142499812 142499812 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003304.4 +1 validated p.L267 0.994 74 0% 54 42.6% 1 0% - - - NULL TRPC1 7220 genome.wustl.edu 37 3 142499836 142499836 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003304.4 +1 validated p.R275C 1.000 53 0% 44 68.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPC1 7220 genome.wustl.edu 37 3 142521010 142521010 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003304.4 +1 validated e9-1 1.000 322 0% 123 39.8% 0 - - - - - TRPC1 7220 genome.wustl.edu 37 3 142524989 142524989 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003304.4 +1 validated p.R731H 1.000 147 0% 37 45.9% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL PAQR9 344838 genome.wustl.edu 37 3 142681357 142681357 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000492509 -1 known p.R15C 0.443 12 0% 17 29.4% 0 - - - - NULL U2SURP 23350 genome.wustl.edu 37 3 142769823 142769823 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000467348 +1 known p.K182T 1.000 42 0% 76 39.5% 107 56% - - - NULL PLOD2 5352 genome.wustl.edu 37 3 145795649 145795649 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182943.2 -1 reviewed p.K521N 1.000 69 0% 38 39.5% 10 0% benign(0.122) tolerated(0.26) neutral(0.044) NULL PLOD2 5352 genome.wustl.edu 37 3 145824374 145824374 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182943.2 -1 reviewed p.D187G 1.000 218 0% 98 44.9% 86 54.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CPB1 1360 genome.wustl.edu 37 3 148563314 148563314 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001871.2 +1 reviewed p.L294 0.394 133 0% 50 20% 0 - - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPA3 1359 genome.wustl.edu 37 3 148614460 148614460 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001870.2 +1 reviewed p.F407C 0.988 122 0% 51 39.2% 0 - probably_damaging(0.972) tolerated(0.17) deleterious(0.473) superfamily_Zn-dependent exopeptidases HPS3 84343 genome.wustl.edu 37 3 148857971 148857971 + Missense_Mutation SNP C C T rs140810728 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032383.3 +1 reviewed p.S133L 0.084 199 1% 130 44.6% 4 0% benign(0.053) tolerated(0.09) neutral(0.300) NULL HPS3 84343 genome.wustl.edu 37 3 148858900 148858900 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032383.3 +1 reviewed p.L270* 0.022 164 0% 154 34.4% 11 27.2% - - - NULL CP 1356 genome.wustl.edu 37 3 148899877 148899877 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000096.3 -1 reviewed p.I823 0.904 287 0% 137 39.4% 5 0% - - - superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3 CP 1356 genome.wustl.edu 37 3 148903203 148903203 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000096.3 -1 reviewed p.D703G 1.000 231 0% 123 38.2% 2 0% probably_damaging(0.954) tolerated(0.07) deleterious(0.717) PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxins ANKUB1 389161 genome.wustl.edu 37 3 149485676 149485676 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144960.1 -1 predicted p.A258V 1.000 154 0% 48 43.8% 0 - probably_damaging(0.977) tolerated(1) neutral(0.419) HMMSmart_SM00248,superfamily_Ankyrin repeat RNF13 11342 genome.wustl.edu 37 3 149589852 149589852 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007282.4 +1 reviewed p.E78* 1.000 250 0% 160 48.7% 17 47% - - - HMMPfam_PA,superfamily_Transferrin receptor ectodomain apical domain SERP1 27230 genome.wustl.edu 37 3 150263456 150263456 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000491660 -1 known p.S65Y 0.000 113 0% 115 51.3% 1 0% unknown(0) - - NULL EIF2A 83939 genome.wustl.edu 37 3 150281343 150281343 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000477551 +1 known p.L103* 1.000 52 0% 87 48.3% 40 67.5% possibly_damaging(0.946) deleterious(0) deleterious(0.835) superfamily_WD40 repeat-like FAM194A 131831 genome.wustl.edu 37 3 150387209 150387209 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152394.3 -1 validated p.R458Q 0.331 589 0% 124 47.6% 0 - probably_damaging(0.989) tolerated(0.38) neutral(0.457) NULL MED12L 116931 genome.wustl.edu 37 3 150873978 150873978 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053002.4 +1 reviewed p.R196Q 1.000 107 0% 63 47.6% 0 - possibly_damaging(0.596) tolerated(0.24) neutral(0.243) NULL MED12L 116931 genome.wustl.edu 37 3 150883693 150883693 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053002.4 +1 reviewed p.R473Q 1.000 393 0% 191 40.8% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL P2RY14 9934 genome.wustl.edu 37 3 150931532 150931532 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081455.1 -1 reviewed p.F191 0.674 571 0% 108 46.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR87 53836 genome.wustl.edu 37 3 151012745 151012745 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023915.3 -1 validated p.R97* 0.176 329 0% 88 31.8% 1 100% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like P2RY12 64805 genome.wustl.edu 37 3 151056273 151056273 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022788.3 -1 reviewed p.D121N 1.000 92 0% 30 50% 1 0% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_7tm_1,superfamily_SSF81321 P2RY12 64805 genome.wustl.edu 37 3 151056576 151056576 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022788.3 -1 reviewed p.D20Y 0.980 166 0% 35 45.7% 0 - benign(0.001) - - superfamily_SSF81321 IGSF10 285313 genome.wustl.edu 37 3 151162996 151162996 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178822.4 -1 validated p.E1591D 0.000 277 0% 266 48.9% 0 - benign(0.071) deleterious(0.02) neutral(0.388) NULL IGSF10 285313 genome.wustl.edu 37 3 151165241 151165241 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178822.4 -1 validated p.S843Y 0.209 346 0.3% 110 41.8% 0 - possibly_damaging(0.822) deleterious(0) deleterious(0.756) NULL IGSF10 285313 genome.wustl.edu 37 3 151166050 151166050 + Silent SNP G G A rs193019990 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178822.4 -1 validated p.V573 0.000 238 0% 131 46.6% 0 - - - - HMMPfam_I-set AADAC 13 genome.wustl.edu 37 3 151532028 151532028 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001086.2 +1 reviewed p.N26 0.000 56 0% 37 18.9% 0 - - - - NULL ARHGEF26 26084 genome.wustl.edu 37 3 153867221 153867221 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015595.3 +1 validated p.R438I 1.000 110 0% 58 34.5% 1 0% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) superfamily_DBL homology domain (DH-domain) ARHGEF26 26084 genome.wustl.edu 37 3 153870632 153870632 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015595.3 +1 validated p.K466N 1.000 116 0% 46 45.7% 2 100% probably_damaging(0.978) tolerated(0.3) neutral(0.449) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF26 26084 genome.wustl.edu 37 3 153912493 153912493 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015595.3 +1 validated p.K611Q 0.997 136 0% 68 45.6% 2 50% possibly_damaging(0.574) tolerated(0.15) neutral(0.438) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF26 26084 genome.wustl.edu 37 3 153972532 153972532 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015595.3 +1 validated p.R798G 0.577 339 0% 52 50% 6 66.6% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMSmart_SM00326,superfamily_SH3-domain GPR149 344758 genome.wustl.edu 37 3 154055687 154055687 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001038705.1 -1 provisional p.L666P 0.922 324 0% 188 42% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GPR149 344758 genome.wustl.edu 37 3 154147081 154147081 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001038705.1 -1 provisional p.S108 0.921 46 0% 29 34.5% 0 - - - - NULL PLCH1 23007 genome.wustl.edu 37 3 155314068 155314068 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130960.1 -1 validated p.R48Q 1.000 255 0% 98 49% 12 50% possibly_damaging(0.874) deleterious(0.04) deleterious(0.689) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like GMPS 8833 genome.wustl.edu 37 3 155632286 155632286 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003875.2 +1 reviewed p.R322I 1.000 204 0% 110 43.6% 81 44.4% benign(0.01) tolerated(0.08) neutral(0.300) superfamily_Adenine nucleotide alpha hydrolases-like KCNAB1 7881 genome.wustl.edu 37 3 155838469 155838469 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172160.2 +1 reviewed p.Q23H 0.028 55 0% 39 38.5% 0 - benign(0.253) deleterious(0) deleterious(0.471) NULL TIPARP 25976 genome.wustl.edu 37 3 156396336 156396336 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015508.4 +1 reviewed p.D284Y 1.000 36 0% 43 39.5% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCNL1 57018 genome.wustl.edu 37 3 156866359 156866359 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020307.2 -1 validated p.R418* 1.000 268 0% 77 45.5% 48 33.3% - - - NULL CCNL1 57018 genome.wustl.edu 37 3 156867164 156867164 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020307.2 -1 validated p.D382Y 1.000 357 0% 123 37.4% 43 25.5% possibly_damaging(0.861) tolerated(0.11) deleterious(0.605) NULL CCNL1 57018 genome.wustl.edu 37 3 156868148 156868148 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020307.2 -1 validated p.R233* 1.000 147 0% 46 50% 34 41.1% - - - HMMSmart_SM00385,superfamily_Cyclin-like VEPH1 79674 genome.wustl.edu 37 3 157131864 157131864 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024621.2 -1 validated p.I238V 0.997 293 0% 50 36% 1 0% benign(0) tolerated(1) - NULL SHOX2 6474 genome.wustl.edu 37 3 157820578 157820578 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006884.3 -1 reviewed p.T148 1.000 202 0% 102 52% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like RSRC1 51319 genome.wustl.edu 37 3 157839940 157839940 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016625.2 +1 provisional p.R16I 1.000 149 0% 77 41.6% 17 52.9% unknown(0) deleterious(0) - NULL RSRC1 51319 genome.wustl.edu 37 3 157920953 157920953 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016625.2 +1 provisional p.R138Q 0.326 274 0% 113 54% 32 56.2% unknown(0) deleterious(0) - NULL RSRC1 51319 genome.wustl.edu 37 3 158254943 158254943 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016625.2 +1 provisional p.S239A 1.000 123 0% 27 40.7% 44 56.8% benign(0.198) deleterious(0) neutral(0.464) NULL MLF1 4291 genome.wustl.edu 37 3 158289151 158289151 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000498592 +1 known p.P11S 0.000 13 0% 36 38.9% 7 57.1% possibly_damaging(0.771) tolerated(0.25) neutral(0.323) HMMPfam_Mlf1IP GFM1 85476 genome.wustl.edu 37 3 158364056 158364056 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024996.5 +1 reviewed p.D113Y 1.000 289 0% 224 47.3% 13 38.4% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_GTP_EFTU,superfamily_SSF52540 IFT80 57560 genome.wustl.edu 37 3 159986314 159986314 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020800.1 -1 validated p.L704V 0.997 114 0% 82 48.8% 15 46.6% possibly_damaging(0.794) deleterious(0) deleterious(0.742) NULL SMC4 10051 genome.wustl.edu 37 3 160148931 160148931 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002800.1 +1 validated p.L1018I 1.000 46 0% 66 37.9% 68 41.1% benign(0.067) tolerated(0.18) neutral(0.060) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC4 10051 genome.wustl.edu 37 3 160151506 160151506 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002800.1 +1 validated p.S1259L 1.000 82 0% 129 41.9% 42 54.7% benign(0.141) deleterious(0) neutral(0.457) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases KPNA4 3840 genome.wustl.edu 37 3 160243798 160243798 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002268.3 -1 reviewed p.R218 1.000 67 0% 107 44.9% 49 69.3% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat KPNA4 3840 genome.wustl.edu 37 3 160254612 160254612 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002268.3 -1 reviewed p.R29Q 1.000 149 0% 250 44% 41 46.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IBB PPM1L 151742 genome.wustl.edu 37 3 160679684 160679684 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139245.2 +1 provisional p.S187F 1.000 155 0% 76 40.8% 4 25% benign(0.159) tolerated(0.08) neutral(0.314) HMMSmart_SM00331,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PPM1L 151742 genome.wustl.edu 37 3 160786763 160786763 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139245.2 +1 provisional p.S301A 1.000 144 0% 48 33.3% 3 66.6% possibly_damaging(0.805) deleterious(0) deleterious(0.748) HMMSmart_SM00331,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C OTOL1 131149 genome.wustl.edu 37 3 161221388 161221388 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080440.1 +1 provisional p.K364N 0.976 238 0% 45 42.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like OTOL1 131149 genome.wustl.edu 37 3 161221492 161221492 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080440.1 +1 provisional p.R399Q 0.607 230 0% 64 40.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like SI 6476 genome.wustl.edu 37 3 164700175 164700175 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001041.3 -1 reviewed p.L1757F 0.020 362 0% 70 31.4% 0 - benign(0.001) tolerated(0.18) neutral(0.056) NULL SI 6476 genome.wustl.edu 37 3 164724704 164724704 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001041.3 -1 reviewed p.I1436L 0.003 157 0% 50 36% 0 - benign(0) tolerated(1) - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164776843 164776843 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001041.3 -1 reviewed p.A436T 0.000 287 0% 50 38% 0 - benign(0) tolerated(0.44) neutral(0.013) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164777015 164777015 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001041.3 -1 reviewed p.G407R 0.255 242 0% 37 48.6% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SLITRK3 22865 genome.wustl.edu 37 3 164906306 164906306 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014926.2 -1 validated p.E771D 0.049 169 0% 43 58.1% 0 - benign(0.002) tolerated(0.93) - NULL SLITRK3 22865 genome.wustl.edu 37 3 164906780 164906780 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014926.2 -1 validated p.E613D 0.998 106 0.9% 17 70.6% 0 - benign(0.011) tolerated(0.4) neutral(0.017) superfamily_SSF52058 ZBBX 79740 genome.wustl.edu 37 3 167016184 167016184 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024687.2 -1 validated p.R596S 0.986 377 0% 104 45.2% 0 - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL ZBBX 79740 genome.wustl.edu 37 3 167045832 167045832 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024687.2 -1 validated p.D254N 0.084 528 0% 88 42% 1 100% benign(0) tolerated(0.22) neutral(0.042) NULL WDR49 151790 genome.wustl.edu 37 3 167240235 167240235 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178824.3 -1 provisional p.P529H 0.106 215 0% 58 39.7% 0 - probably_damaging(0.999) tolerated(0.15) deleterious(0.732) superfamily_WD40 repeat-like LRRC31 79782 genome.wustl.edu 37 3 169557856 169557856 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024727.2 -1 validated p.L525I 0.083 281 0.7% 107 43% 1 100% benign(0.156) deleterious(0) neutral(0.459) NULL SKIL 6498 genome.wustl.edu 37 3 170078393 170078393 + Missense_Mutation SNP C C G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005414.3 +1 validated p.Q92E 1.000 56 0% 104 44.2% 10 20% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SLC7A14 57709 genome.wustl.edu 37 3 170216509 170216509 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020949.2 -1 validated p.I236V 0.999 89 0% 46 41.3% 0 - benign(0) tolerated(1) - HMMPfam_AA_permease SLC2A2 6514 genome.wustl.edu 37 3 170716177 170716177 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000340.1 -1 reviewed p.F393L 0.000 41 0% 12 50% 0 - benign(0.001) tolerated(0.66) neutral(0.003) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter TNIK 23043 genome.wustl.edu 37 3 170797312 170797312 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015028.2 -1 validated p.K1148T 1.000 314 0% 116 54.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CNH,HMMSmart_SM00036 TNIK 23043 genome.wustl.edu 37 3 170856158 170856158 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015028.2 -1 validated p.R477H 1.000 390 0% 143 38.5% 2 50% probably_damaging(0.989) tolerated(0.05) deleterious(0.785) NULL GHSR 2693 genome.wustl.edu 37 3 172165600 172165600 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198407.2 -1 reviewed p.E202K 1.000 43 0% 22 36.4% 0 - benign(0.17) tolerated(0.06) neutral(0.338) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TNFSF10 8743 genome.wustl.edu 37 3 172232743 172232743 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003810.2 -1 reviewed p.E60* 0.650 294 0% 94 39.4% 6 0% - - - NULL SPATA16 83893 genome.wustl.edu 37 3 172607461 172607461 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031955.5 -1 reviewed p.L537I 0.982 193 0% 113 42.5% 0 - benign(0.185) tolerated(0.5) neutral(0.027) NULL NLGN1 22871 genome.wustl.edu 37 3 173998849 173998849 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014932.2 +1 reviewed p.E743A 1.000 251 0% 18 44.4% 0 - possibly_damaging(0.786) deleterious(0.02) deleterious(0.677) NULL NAALADL2 254827 genome.wustl.edu 37 3 175181199 175181199 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207015.2 +1 validated p.V415 0.026 62 0% 55 50.9% 10 50% - - - superfamily_Transferrin receptor ectodomain apical domain,superfamily_Zn-dependent exopeptidases TBL1XR1 79718 genome.wustl.edu 37 3 176752059 176752059 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024665.4 -1 reviewed p.E393* 1.000 271 0% 109 44% 24 20.8% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 PIK3CA 5290 genome.wustl.edu 37 3 178916725 178916725 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006218.2 +1 reviewed p.R38C 1.000 47 0% 57 40.4% 11 45.4% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178916823 178916823 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006218.2 +1 reviewed p.F70 1.000 78 0% 74 36.5% 4 0% - - - HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178952018 178952018 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006218.2 +1 reviewed p.T1025S 1.000 155 0% 36 58.3% 17 47% probably_damaging(1) tolerated(0.83) deleterious(0.500) HMMSmart_PI3Kc,superfamily_Kinase_like MFN1 55669 genome.wustl.edu 37 3 179069714 179069714 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033540.2 +1 reviewed p.R47* 0.997 103 0% 108 46.3% 14 28.5% - - - NULL GNB4 59345 genome.wustl.edu 37 3 179123026 179123026 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021629.3 -1 reviewed p.D290N 1.000 236 0% 84 35.7% 0 - probably_damaging(0.978) tolerated(0.28) neutral(0.452) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 ACTL6A 86 genome.wustl.edu 37 3 179294017 179294017 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004301.3 +1 reviewed p.G163 0.965 454 0% 299 39.8% 62 46.7% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain USP13 8975 genome.wustl.edu 37 3 179399696 179399696 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003940.2 +1 validated p.N67H 1.000 271 0% 114 41.2% 0 - benign(0.106) tolerated(0.19) neutral(0.058) NULL PEX5L 51555 genome.wustl.edu 37 3 179593215 179593215 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016559.1 -1 provisional p.R186* 0.985 397 0% 167 40.1% 0 - - - - NULL TTC14 151613 genome.wustl.edu 37 3 180322127 180322127 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000462895 +1 known e4+1 0.000 55 0% 79 34.2% 0 - - - - - FXR1 8087 genome.wustl.edu 37 3 180671565 180671565 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005087.2 +1 reviewed p.K273Q 0.997 515 0% 330 47.3% 115 51.3% benign(0.015) tolerated(0.3) neutral(0.029) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) ATP11B 23200 genome.wustl.edu 37 3 182547477 182547477 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014616.1 +1 validated p.P84 0.906 94 0% 70 48.6% 4 0% - - - NULL ATP11B 23200 genome.wustl.edu 37 3 182553889 182553889 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014616.1 +1 validated p.R128* 1.000 318 0% 88 47.7% 6 16.6% - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653 ATP11B 23200 genome.wustl.edu 37 3 182563301 182563301 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014616.1 +1 validated p.E254* 1.000 64 0% 58 39.7% 8 25% - - - superfamily_SSF81653 ATP11B 23200 genome.wustl.edu 37 3 182583391 182583391 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014616.1 +1 validated p.L450V 0.000 103 0% 115 88.7% 5 80% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660 ATP11B 23200 genome.wustl.edu 37 3 182597360 182597360 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014616.1 +1 validated p.E777* 1.000 110 0% 74 51.4% 9 0% - - - superfamily_SSF56784 ATP11B 23200 genome.wustl.edu 37 3 182605448 182605448 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000498086 +1 known p.F731C 1.000 244 0% 144 43.1% 6 16.6% - - - NULL ATP11B 23200 genome.wustl.edu 37 3 182607238 182607238 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014616.1 +1 validated p.L962I 1.000 163 0% 155 51% 4 0% probably_damaging(0.974) tolerated(0.65) neutral(0.419) NULL DCUN1D1 54165 genome.wustl.edu 37 3 182683356 182683356 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020640.2 -1 validated p.K63 1.000 122 0% 127 51.2% 38 52.6% - - - NULL MCCC1 56922 genome.wustl.edu 37 3 182751858 182751858 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020166.3 -1 reviewed p.F534L 0.998 131 0% 155 12.3% 32 12.5% benign(0) tolerated(0.54) neutral(0.007) NULL MCCC1 56922 genome.wustl.edu 37 3 182789060 182789060 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020166.3 -1 reviewed p.E193K 0.184 195 0% 67 41.8% 16 37.5% benign(0.003) tolerated(0.41) neutral(0.015) HMMPfam_CPSase_L_D2,superfamily_SSF56059 MCCC1 56922 genome.wustl.edu 37 3 182790199 182790199 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020166.3 -1 reviewed p.F149C 1.000 112 0% 96 50% 17 52.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like MCF2L2 23101 genome.wustl.edu 37 3 182897875 182897875 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015078.2 -1 validated p.E1030A 0.951 106 0% 94 38.3% 0 - benign(0.022) tolerated(0.24) neutral(0.038) NULL MCF2L2 23101 genome.wustl.edu 37 3 182923939 182923939 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015078.2 -1 validated p.R926* 0.004 244 0% 100 52% 1 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like MCF2L2 23101 genome.wustl.edu 37 3 182925518 182925518 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015078.2 -1 validated p.R864* 0.971 376 0% 192 47.4% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KLHL6 89857 genome.wustl.edu 37 3 183212027 183212027 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130446.2 -1 validated p.S397L 0.994 177 0% 143 44.8% 1 0% possibly_damaging(0.786) tolerated(0.25) neutral(0.331) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL24 54800 genome.wustl.edu 37 3 183396927 183396927 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017644.3 +1 validated p.R552 1.000 72 0% 65 12.3% 17 17.6% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain YEATS2 55689 genome.wustl.edu 37 3 183508632 183508632 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000432781 +1 known p.E173K 0.475 106 0% 64 43.8% 39 35.8% - - - NULL ABCC5 10057 genome.wustl.edu 37 3 183706371 183706371 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005688.2 -1 reviewed p.V144 1.000 53 0% 28 42.9% 8 50% - - - NULL HTR3C 170572 genome.wustl.edu 37 3 183774718 183774718 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130770.2 +1 reviewed p.R149* 0.000 276 0% 110 47.3% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD EIF2B5 8893 genome.wustl.edu 37 3 183859757 183859757 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003907.2 +1 reviewed p.R401* 0.336 168 0% 65 46.2% 15 6.6% - - - superfamily_Trimer_LpxA_like ABCF3 55324 genome.wustl.edu 37 3 183906042 183906042 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018358.2 +1 validated p.L228P 1.000 170 0% 94 17% 45 13.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ALG3 10195 genome.wustl.edu 37 3 183960741 183960741 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000446569 -1 known p.R242C 0.004 53 0% 93 43% 44 61.3% - - - HMMPfam_ALG3 ECE2 9718 genome.wustl.edu 37 3 184005699 184005699 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014693.3 +1 validated p.F564 0.996 95 0% 43 37.2% 0 - - - - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" PSMD2 5708 genome.wustl.edu 37 3 184023648 184023648 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000432855 +1 known p.R5K 1.000 110 0% 87 43.7% 204 44.6% - - - NULL EIF4G1 1981 genome.wustl.edu 37 3 184038427 184038427 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182917.3 +1 reviewed p.R183* 1.000 73 0% 130 46.2% 69 23.1% - - - NULL EIF4G1 1981 genome.wustl.edu 37 3 184039456 184039456 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182917.3 +1 reviewed p.N362D 0.997 40 0% 62 38.7% 87 63.2% possibly_damaging(0.95) tolerated(0.49) neutral(0.404) NULL VPS8 23355 genome.wustl.edu 37 3 184587294 184587294 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009921.2 +1 validated p.R541Q 0.981 365 0% 61 42.6% 13 23% probably_damaging(0.992) tolerated(0.08) deleterious(0.748) NULL MAP3K13 9175 genome.wustl.edu 37 3 185181416 185181416 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004721.3 +1 reviewed p.E453* 1.000 130 0% 82 41.5% 0 - - - - NULL IGF2BP2 10644 genome.wustl.edu 37 3 185367281 185367281 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006548.4 -1 reviewed p.F501L 1.000 158 0% 159 48.4% 3 33.3% benign(0.086) deleterious(0.03) neutral(0.371) superfamily_Eukaryotic type KH-domain (KH-domain type I) AHSG 197 genome.wustl.edu 37 3 186338716 186338716 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001622.2 +1 reviewed p.V367 0.999 155 0% 21 52.4% 0 - - - - NULL HRG 3273 genome.wustl.edu 37 3 186389556 186389556 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000412.2 +1 reviewed p.R179Q 0.000 183 0% 52 30.8% 0 - probably_damaging(0.998) tolerated(0.12) deleterious(0.735) HMMSmart_SM00043,superfamily_Cystatin/monellin KNG1 3827 genome.wustl.edu 37 3 186445073 186445073 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102416.2 +1 reviewed p.T204 0.823 134 0% 183 39.9% 0 - - - - HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin ST6GAL1 6480 genome.wustl.edu 37 3 186760512 186760512 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003032.2 +1 reviewed p.K7N 1.000 214 0% 80 47.5% 16 37.5% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) NULL LEPREL1 55214 genome.wustl.edu 37 3 189688659 189688659 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018192.3 -1 validated p.D613 0.343 236 0% 131 49.6% 2 0% - - - HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 LEPREL1 55214 genome.wustl.edu 37 3 189706747 189706747 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018192.3 -1 validated p.E302K 1.000 103 0% 53 50.9% 2 100% probably_damaging(0.957) tolerated(0.21) neutral(0.445) superfamily_TPR-like OSTN 344901 genome.wustl.edu 37 3 190936670 190936670 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198184.1 +1 provisional p.K79N 1.000 231 0% 95 50.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ATP13A5 344905 genome.wustl.edu 37 3 193016935 193016935 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198505.2 -1 provisional p.M945L 1.000 75 0% 22 40.9% 0 - benign(0) tolerated(0.54) neutral(0.007) superfamily_SSF81665 ATP13A5 344905 genome.wustl.edu 37 3 193081101 193081101 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198505.2 -1 provisional p.S103N 1.000 139 0% 49 34.7% 0 - benign(0.234) tolerated(0.5) neutral(0.034) NULL ATP13A4 84239 genome.wustl.edu 37 3 193160206 193160206 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000437904 -1 known p.E46* 0.995 306 0% 137 32.8% 0 - benign(0) tolerated(0.51) neutral(0.009) NULL CPN2 1370 genome.wustl.edu 37 3 194062312 194062312 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080513.2 -1 validated p.T374A 0.484 67 0% 36 41.7% 0 - benign(0.029) tolerated(0.4) neutral(0.018) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like LRRC15 131578 genome.wustl.edu 37 3 194080802 194080802 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135057.2 -1 validated p.L330P 0.993 92 0% 91 46.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like GP5 2814 genome.wustl.edu 37 3 194118263 194118263 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004488.2 -1 validated p.S250L 0.011 26 0% 21 57.1% 0 - possibly_damaging(0.638) deleterious(0) deleterious(0.668) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 ATP13A3 79572 genome.wustl.edu 37 3 194180612 194180612 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024524.3 -1 validated p.K105T 0.812 156 0% 117 45.3% 13 30.7% benign(0.174) tolerated(0.56) neutral(0.022) NULL LSG1 55341 genome.wustl.edu 37 3 194366927 194366927 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018385.2 -1 reviewed p.R530Q 1.000 92 0% 64 42.2% 37 51.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LSG1 55341 genome.wustl.edu 37 3 194371635 194371635 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000437613 -1 known p.E199* 1.000 97 0% 109 42.2% 34 38.2% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases ACAP2 23527 genome.wustl.edu 37 3 195000152 195000152 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012287.5 -1 validated p.E748K 1.000 53 0% 93 38.7% 21 23.8% possibly_damaging(0.943) tolerated(0.09) deleterious(0.684) NULL LOC651714 651714 genome.wustl.edu 37 3 195345839 195345839 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_078298.1 +1 model NULL 0.397 186 0% 139 20.9% 4 0% - - - - MUC4 4585 genome.wustl.edu 37 3 195490450 195490450 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018406.5 -1 reviewed p.L4575 1.000 22 0% 15 46.7% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 MUC4 4585 genome.wustl.edu 37 3 195506816 195506816 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018406.5 -1 reviewed p.S3751P 0.947 8 0.000 143 0.343 0 - benign(0.421) - - NULL MUC4 4585 genome.wustl.edu 37 3 195516941 195516941 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018406.5 -1 reviewed p.E504* 0.001 243 0.4% 212 49.5% 0 - - - - NULL MUC4 4585 genome.wustl.edu 37 3 195518052 195518052 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018406.5 -1 reviewed p.M133I 0.000 590 0% 347 39.2% 0 - benign(0.024) tolerated(0.13) neutral(0.254) NULL OSTalpha 200931 genome.wustl.edu 37 3 195956790 195956790 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152672.5 +1 validated p.S213Y 1.000 145 0% 61 47.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LRRC33 375387 genome.wustl.edu 37 3 196388263 196388263 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198565.1 +1 provisional p.S583 0.000 50 0% 41 31.7% 2 0% - - - superfamily_SSF52058 PAK2 5062 genome.wustl.edu 37 3 196528890 196528890 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002577.4 +1 reviewed p.E94K 1.000 163 0% 280 43.6% 39 25.6% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_PBD,HMMSmart_PBD SENP5 205564 genome.wustl.edu 37 3 196612627 196612627 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152699.4 +1 validated p.R192K 1.000 50 0% 41 43.9% 8 62.5% possibly_damaging(0.775) deleterious(0) deleterious(0.733) NULL SENP5 205564 genome.wustl.edu 37 3 196650375 196650375 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152699.4 +1 validated p.I659V 1.000 255 0% 350 44% 4 100% possibly_damaging(0.435) deleterious(0.03) deleterious(0.506) HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases FYTTD1 84248 genome.wustl.edu 37 3 197501072 197501072 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032288.6 +1 validated p.R216I 1.000 342 0.3% 270 41.1% 36 50% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_FYTT RPL35A 6165 genome.wustl.edu 37 3 197678094 197678094 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000996.2 +1 reviewed p.A26T 1.000 188 0% 221 43.9% 3122 50.2% benign(0.006) tolerated(0.08) neutral(0.300) HMMPfam_Ribosomal_L35Ae LMLN 89782 genome.wustl.edu 37 3 197702920 197702920 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136049.2 +1 reviewed p.A123 1.000 63 0% 43 27.9% 0 - - - - "superfamily_Metalloproteases (""zincins"") catalytic domain" FAM157A 728262 genome.wustl.edu 37 3 197894586 197894586 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145248.1 +1 inferred p.E310* 0.000 71 0% 41 24.4% 1 0% - - - NULL ZNF732 654254 genome.wustl.edu 37 4 265585 265585 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137608.1 -1 provisional p.R354I 0.159 97 0% 74 44.6% 0 - benign(0.041) tolerated(0.42) neutral(0.017) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF48695,superfamily_SSF57667 ZNF721 170960 genome.wustl.edu 37 4 436861 436861 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133474.2 -1 validated p.K465N 0.032 134 0% 125 49.6% 11 45.4% possibly_damaging(0.839) tolerated(0.48) neutral(0.331) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MYL5 4636 genome.wustl.edu 37 4 672539 672539 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002477.1 +1 reviewed p.I32 1.000 11 0% 41 41.5% 14 28.5% - - - superfamily_EF-hand KIAA1530 57654 genome.wustl.edu 37 4 1343638 1343638 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020894.2 +1 validated p.K142T 0.999 12 0% 39 46.2% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL POLN 353497 genome.wustl.edu 37 4 2073817 2073817 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000253313 -1 known p.R590I 0.000 4 0.000 11 0.364 0 - possibly_damaging(0.681) deleterious(0) deleterious(0.688) NULL HAUS3 79441 genome.wustl.edu 37 4 2242323 2242323 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024511.5 -1 provisional p.I117M 0.998 70 0% 274 17.9% 11 27.2% probably_damaging(0.96) tolerated(0.17) neutral(0.462) NULL ZFYVE28 57732 genome.wustl.edu 37 4 2274994 2274994 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020972.2 -1 validated p.T743 0.332 58 0% 156 46.2% 1 0% - - - NULL ZFYVE28 57732 genome.wustl.edu 37 4 2307220 2307220 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020972.2 -1 validated p.E283* 1.000 13 0% 17 41.2% 2 0% - - - NULL ZFYVE28 57732 genome.wustl.edu 37 4 2341209 2341209 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020972.2 -1 validated p.F164 0.999 61 0% 28 46.4% 4 25% - - - NULL ADD1 118 genome.wustl.edu 37 4 2877672 2877672 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014189.2 +1 reviewed p.V10 1.000 137 0% 98 43.9% 30 43.3% - - - NULL HTT 3064 genome.wustl.edu 37 4 3190682 3190682 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002111.6 +1 reviewed p.L1744I 0.998 335 0% 369 45.8% 16 62.5% possibly_damaging(0.937) tolerated(0.32) neutral(0.407) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6043912 6043912 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099433.1 -1 validated p.K691Q 1.000 145 0% 172 45.3% 0 - possibly_damaging(0.922) tolerated(0.41) neutral(0.387) NULL WFS1 7466 genome.wustl.edu 37 4 6304159 6304159 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006005.3 +1 reviewed p.F879 1.000 7 0.000 10 0.500 93 39.7% - - - NULL KIAA0232 9778 genome.wustl.edu 37 4 6863012 6863012 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100590.1 +1 validated p.G301 0.001 53 0% 36 58.3% 6 33.3% - - - NULL KIAA0232 9778 genome.wustl.edu 37 4 6863933 6863933 + Silent SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100590.1 +1 validated p.G608 0.950 170 0% 86 18.6% 12 41.6% - - - NULL TADA2B 93624 genome.wustl.edu 37 4 7056094 7056094 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152293.2 +1 validated p.Y192 0.994 12 0% 19 52.6% 16 12.5% - - - NULL PSAPL1 768239 genome.wustl.edu 37 4 7435284 7435284 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001085382.1 -1 validated p.F441 0.329 44 0% 14 42.9% 0 - - - - HMMPfam_SapB_2,HMMSmart_SapB,superfamily_Saposin_like SORCS2 57537 genome.wustl.edu 37 4 7668883 7668883 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000507866 +1 known p.L335I 0.993 520 0% 151 44.4% 0 - - - - HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase SORCS2 57537 genome.wustl.edu 37 4 7736057 7736057 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000507866 +1 known p.R1056W 0.455 109 0% 46 54.3% 0 - - - - NULL METTL19 152992 genome.wustl.edu 37 4 8477724 8477724 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152544.1 +1 provisional p.S365* 0.000 33 0% 15 53.3% 21 47.6% - - - NULL ENSG00000219492 0 genome.wustl.edu 37 4 9386178 9386178 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000508324 -1 known p.L156I 0.000 161 0% 197 37.1% 0 - possibly_damaging(0.473) tolerated(0.33) neutral(0.180) superfamily_C2H2 and C2HC zinc fingers DRD5 1816 genome.wustl.edu 37 4 9784597 9784597 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000798.4 +1 reviewed p.L315R 1.000 36 0% 36 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF518B 85460 genome.wustl.edu 37 4 10446851 10446851 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053042.2 -1 validated p.E368* 1.000 90 0% 102 45.1% 15 73.3% - - - NULL ZNF518B 85460 genome.wustl.edu 37 4 10447097 10447097 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053042.2 -1 validated p.K286Q 0.826 106 0% 147 41.5% 14 57.1% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL RAB28 9364 genome.wustl.edu 37 4 13383183 13383183 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017979.2 -1 reviewed p.K143Q 1.000 178 0% 77 36.4% 25 56% benign(0.11) tolerated(0.06) neutral(0.331) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases BOD1L 259282 genome.wustl.edu 37 4 13578512 13578512 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000507943 -1 known p.T105M 0.052 289 0.3% 119 40.3% 51 25.4% - - - NULL BOD1L 259282 genome.wustl.edu 37 4 13602068 13602068 + Silent SNP G G A rs139854434 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148894.2 -1 validated p.F2152 0.011 93 1.1% 28 50% 11 72.7% - - - superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13603185 13603185 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148894.2 -1 validated p.S1780Y 0.013 232 0% 81 55.6% 23 43.4% probably_damaging(0.958) deleterious(0) deleterious(0.846) superfamily_SSF81995 CC2D2A 57545 genome.wustl.edu 37 4 15581669 15581669 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080522.2 +1 reviewed p.R1284C 1.000 140 0% 76 38.2% 6 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FAM200B 285550 genome.wustl.edu 37 4 15689841 15689841 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145191.1 +1 validated p.S414Y 1.000 34 0% 37 59.5% 1 100% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL CD38 952 genome.wustl.edu 37 4 15841654 15841654 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001775.2 +1 validated p.F222S 0.968 625 0% 546 13.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rib_hydrolayse,superfamily_ADP ribosyl cyclase-like ENSG00000251758 0 genome.wustl.edu 37 4 16010353 16010353 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000515949 -1 novel NULL 0.000 18 0% 14 28.6% 0 - - - - - TAPT1 202018 genome.wustl.edu 37 4 16188159 16188159 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000513782 -1 known p.R98* 0.732 123 0% 146 37.7% 14 64.2% - - - HMMPfam_DUF747 DCAF16 54876 genome.wustl.edu 37 4 17805494 17805494 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017741.3 -1 provisional p.R91* 0.991 76 0% 93 47.3% 39 43.5% - - - NULL LCORL 254251 genome.wustl.edu 37 4 17963530 17963530 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153686.7 -1 reviewed p.K142N 1.000 370 0% 68 33.8% 9 33.3% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL LCORL 254251 genome.wustl.edu 37 4 17974461 17974461 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153686.7 -1 reviewed p.D68Y 1.000 64 0% 26 65.4% 6 50% unknown(0) - - NULL SLIT2 9353 genome.wustl.edu 37 4 20526788 20526788 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004787.1 +1 provisional p.F485L 1.000 492 0% 324 43.8% 1 0% benign(0.041) deleterious(0.05) neutral(0.348) superfamily_L domain-like SLIT2 9353 genome.wustl.edu 37 4 20550744 20550744 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004787.1 +1 provisional p.R828* 1.000 445 0% 99 43.4% 1 0% - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like PACRGL 133015 genome.wustl.edu 37 4 20714465 20714465 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145048.3 +1 validated p.E141* 1.000 309 0% 82 43.9% 14 0% - - - HMMPfam_ParcG GPR125 166647 genome.wustl.edu 37 4 22403157 22403157 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145290.2 -1 validated p.K793T 1.000 125 0% 43 37.2% 21 52.3% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_7tm_2 PPARGC1A 10891 genome.wustl.edu 37 4 23814438 23814438 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013261.3 -1 reviewed p.R651C 1.000 371 0% 69 49.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_RNA-binding domain RBD PPARGC1A 10891 genome.wustl.edu 37 4 23814477 23814477 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013261.3 -1 reviewed p.E638K 1.000 306 0% 65 50.8% 0 - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL DHX15 1665 genome.wustl.edu 37 4 24538742 24538742 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001358.2 -1 reviewed p.K614R 1.000 279 0% 56 33.9% 187 41.7% possibly_damaging(0.827) tolerated(0.33) neutral(0.338) HMMPfam_HA2,superfamily_SSF52540 PI4K2B 55300 genome.wustl.edu 37 4 25258264 25258264 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018323.3 +1 validated p.R242 0.999 71 0% 121 37.2% 20 65% - - - HMMPfam_PI3_PI4_kinase ANAPC4 29945 genome.wustl.edu 37 4 25408837 25408837 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013367.2 +1 reviewed p.R465* 1.000 130 0% 65 30.8% 12 16.6% - - - NULL SLC34A2 10568 genome.wustl.edu 37 4 25673223 25673223 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006424.2 +1 reviewed p.T310A 0.995 283 0% 106 48.1% 8 75% benign(0.045) tolerated(0.39) neutral(0.018) NULL SEL1L3 23231 genome.wustl.edu 37 4 25821558 25821558 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015187.3 -1 validated p.F432C 0.917 122 0% 88 42% 51 50.9% benign(0.296) deleterious(0) deleterious(0.536) NULL ARAP2 116984 genome.wustl.edu 37 4 36134858 36134858 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015230.2 -1 reviewed p.V1139 1.000 302 0% 40 62.5% 3 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARAP2 116984 genome.wustl.edu 37 4 36230520 36230520 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015230.2 -1 reviewed p.E197* 0.000 99 0% 43 46.5% 2 0% - - - NULL DTHD1 401124 genome.wustl.edu 37 4 36296580 36296580 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136536.3 +1 validated p.K231T 0.948 303 0% 100 48% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL DTHD1 401124 genome.wustl.edu 37 4 36310064 36310064 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136536.3 +1 validated p.R392* 0.930 101 0% 61 41% 0 - - - - NULL PGM2 55276 genome.wustl.edu 37 4 37850190 37850190 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018290.3 +1 validated p.A444T 1.000 327 0% 97 41.2% 40 52.5% possibly_damaging(0.586) deleterious(0.05) deleterious(0.547) superfamily_A-D-PHexomutase_a/b/a-I/II/III TBC1D1 23216 genome.wustl.edu 37 4 38046004 38046004 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015173.2 +1 validated p.N479H 0.986 227 0% 193 43.5% 57 45.6% possibly_damaging(0.524) tolerated(0.54) neutral(0.184) NULL TBC1D1 23216 genome.wustl.edu 37 4 38091653 38091653 + Silent SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000510573 +1 known p.S405T 0.000 61 0% 41 43.9% 65 38.4% - - - NULL TLR10 81793 genome.wustl.edu 37 4 38776315 38776315 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017388.1 -1 reviewed p.M299I 0.986 164 0% 109 38.5% 0 - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) superfamily_SSF52058 TLR10 81793 genome.wustl.edu 37 4 38776835 38776835 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017388.1 -1 reviewed p.F126C 1.000 62 0% 41 58.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_SSF52058 TLR1 7096 genome.wustl.edu 37 4 38798301 38798301 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003263.3 -1 reviewed p.L718I 0.984 151 0% 88 45.5% 2 50% possibly_damaging(0.756) deleterious(0.03) deleterious(0.643) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain TLR6 10333 genome.wustl.edu 37 4 38828928 38828928 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006068.3 -1 validated p.L723I 0.877 130 0% 144 12.5% 0 - probably_damaging(0.985) tolerated(0.24) deleterious(0.469) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR WDR19 57728 genome.wustl.edu 37 4 39236493 39236493 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025132.3 +1 reviewed p.F787 1.000 156 0% 74 43.2% 16 50% - - - superfamily_TPR-like RFC1 5981 genome.wustl.edu 37 4 39304177 39304177 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002913.3 -1 reviewed p.K793N 1.000 209 0% 131 52.7% 17 23.5% possibly_damaging(0.493) tolerated(0.12) neutral(0.425) superfamily_SSF52540 RFC1 5981 genome.wustl.edu 37 4 39318546 39318546 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002913.3 -1 reviewed p.E398* 1.000 244 0% 200 43.5% 14 21.4% - - - NULL KLB 152831 genome.wustl.edu 37 4 39436111 39436111 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175737.3 +1 validated p.F369L 1.000 202 0% 115 41.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat UGDH 7358 genome.wustl.edu 37 4 39523018 39523018 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003359.3 -1 reviewed p.E39* 1.000 84 0% 74 39.2% 56 37.5% - - - HMMPfam_UDPG_MGDP_dh_N,superfamily_NAD(P)-bd PDS5A 23244 genome.wustl.edu 37 4 39863945 39863945 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100399.1 -1 reviewed p.L994V 0.837 169 0% 56 50% 56 58.9% benign(0) tolerated(0.14) neutral(0.249) superfamily_ARM repeat PDS5A 23244 genome.wustl.edu 37 4 39863948 39863948 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100399.1 -1 reviewed p.L993V 1.000 166 0% 54 44.4% 58 39.6% possibly_damaging(0.773) tolerated(0.42) neutral(0.301) superfamily_ARM repeat PDS5A 23244 genome.wustl.edu 37 4 39905793 39905793 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100399.1 -1 reviewed p.A418T 1.000 71 0% 106 61.3% 27 48.1% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_HEAT,superfamily_ARM repeat RBM47 54502 genome.wustl.edu 37 4 40438469 40438469 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098634.1 -1 validated p.K440T 1.000 180 0% 180 36.7% 27 33.3% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL ENSG00000207198 0 genome.wustl.edu 37 4 41116010 41116010 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000384469 +1 novel NULL 0.001 214 0% 148 48% 0 - - - - - BEND4 389206 genome.wustl.edu 37 4 42122295 42122295 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207406.3 -1 validated p.L388S 1.000 81 0% 81 44.4% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL BEND4 389206 genome.wustl.edu 37 4 42145990 42145990 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207406.3 -1 validated p.A170V 1.000 74 0% 77 40.3% 1 0% possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL ATP8A1 10396 genome.wustl.edu 37 4 42457333 42457333 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006095.2 -1 reviewed p.A933D 1.000 203 0% 95 53.7% 1 100% possibly_damaging(0.949) tolerated(0.52) neutral(0.402) NULL GRXCR1 389207 genome.wustl.edu 37 4 42965093 42965093 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080476.1 +1 provisional p.R190Q 0.954 305 0% 30 50% 0 - benign(0.374) tolerated(0.61) neutral(0.123) HMMPfam_Glutaredoxin,superfamily_Thiordxn-like_fd YIPF7 285525 genome.wustl.edu 37 4 44652021 44652021 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182592.2 -1 validated p.N57H 0.052 77 0% 82 58.5% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL GNPDA2 132789 genome.wustl.edu 37 4 44712972 44712972 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138335.1 -1 provisional p.E198* 1.000 112 0% 36 47.2% 14 21.4% - - - HMMPfam_Glucosamine_iso,superfamily_NagB/RpiA/CoA transferase-like GABRG1 2565 genome.wustl.edu 37 4 46053556 46053556 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173536.3 -1 reviewed p.V339A 1.000 297 0% 36 13.9% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA4 2557 genome.wustl.edu 37 4 46979629 46979629 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000809.2 -1 reviewed p.F98L 1.000 219 0% 57 38.6% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD ATP10D 57205 genome.wustl.edu 37 4 47538493 47538493 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020453.3 +1 validated p.F352Y 0.124 470 0.2% 173 33.5% 1 0% possibly_damaging(0.446) tolerated(1) neutral(0.146) HMMPfam_E1-E2_ATPase ATP10D 57205 genome.wustl.edu 37 4 47563079 47563079 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020453.3 +1 validated p.K885 0.999 201 0% 98 38.8% 2 0% - - - superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N CORIN 10699 genome.wustl.edu 37 4 47667169 47667169 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006587.2 -1 reviewed p.E490V 1.000 136 0% 66 54.5% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 NFXL1 152518 genome.wustl.edu 37 4 47907319 47907319 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152995.4 -1 validated p.E151* 1.000 250 0% 155 43.9% 3 33.3% - - - NULL CNGA1 1259 genome.wustl.edu 37 4 47944159 47944159 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142564.1 -1 reviewed p.K221N 1.000 117 0% 89 39.3% 1 0% possibly_damaging(0.801) tolerated(0.09) deleterious(0.598) NULL CNGA1 1259 genome.wustl.edu 37 4 47945230 47945230 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142564.1 -1 reviewed p.K208N 0.975 94 0% 224 42.4% 0 - benign(0) tolerated(0.3) neutral(0.029) NULL CNGA1 1259 genome.wustl.edu 37 4 47953438 47953438 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142564.1 -1 reviewed p.E125D 0.181 210 0% 100 44% 0 - possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL TXK 7294 genome.wustl.edu 37 4 48096150 48096150 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003328.2 -1 validated p.R218I 1.000 338 0% 98 46.9% 3 66.6% probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 TEC 7006 genome.wustl.edu 37 4 48172386 48172386 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000505452 -1 known p.E98* 1.000 120 0% 82 41.5% 3 66.6% - - - NULL ZAR1 326340 genome.wustl.edu 37 4 48495007 48495007 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175619.1 +1 provisional p.R370Q 0.996 107 0.9% 241 42.7% 10 70% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FRYL 285527 genome.wustl.edu 37 4 48542763 48542763 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015030.1 -1 validated p.N1968H 1.000 156 0.6% 44 40.9% 27 44.4% possibly_damaging(0.76) tolerated(0.31) neutral(0.308) superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48552602 48552602 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000507711 -1 known p.K1547T 0.000 115 0% 82 41.5% 0 - unknown(0) tolerated(0.38) - NULL FRYL 285527 genome.wustl.edu 37 4 48559609 48559609 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015030.1 -1 validated p.R1329Q 1.000 91 0% 81 51.9% 29 58.6% probably_damaging(0.973) tolerated(0.37) neutral(0.434) NULL FRYL 285527 genome.wustl.edu 37 4 48597671 48597671 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015030.1 -1 validated p.R395Q 1.000 110 0.9% 41 48.8% 6 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_ARM repeat SGCB 6443 genome.wustl.edu 37 4 52895947 52895947 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000232.4 -1 reviewed p.R109Q 1.000 162 0% 94 40.4% 36 63.8% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Sarcoglycan_1 SPATA18 132671 genome.wustl.edu 37 4 52926626 52926626 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145263.2 +1 provisional p.L43 0.998 130 0% 36 16.7% 4 0% - - - NULL SPATA18 132671 genome.wustl.edu 37 4 52945043 52945043 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145263.2 +1 provisional p.S388Y 0.999 484 0% 182 46.7% 6 100% probably_damaging(0.978) deleterious(0.03) deleterious(0.785) NULL LOC100288413 100288413 genome.wustl.edu 37 4 53611335 53611335 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342451.1 -1 model p.L118S 0.116 116 0% 90 47.8% 2 50% - - - NULL SCFD2 152579 genome.wustl.edu 37 4 54179878 54179878 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152540.3 -1 validated p.E354* 1.000 472 0% 96 44.8% 9 0% - - - superfamily_Sec1/munc18-like (SM) proteins FIP1L1 81608 genome.wustl.edu 37 4 54319224 54319224 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030917.3 +1 reviewed p.R475W 0.990 242 0% 86 55.8% 100 42% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LNX1 84708 genome.wustl.edu 37 4 54342949 54342949 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001126328.1 -1 reviewed p.P621 0.009 272 0% 68 39.7% 51 43.1% - - - superfamily_PDZ domain-like LNX1 84708 genome.wustl.edu 37 4 54347959 54347959 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001126328.1 -1 reviewed p.I471 1.000 60 0% 14 50% 33 51.5% - - - NULL CHIC2 26511 genome.wustl.edu 37 4 54915446 54915446 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012110.2 -1 reviewed p.S49Y 1.000 103 0% 60 45% 29 48.2% benign(0.186) deleterious(0.02) neutral(0.401) HMMPfam_Erf4 CHIC2 26511 genome.wustl.edu 37 4 54930447 54930447 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000510894 -1 known p.L7I 1.000 19 0% 16 62.5% 7 57.1% - - - NULL GSX2 170825 genome.wustl.edu 37 4 54967876 54967876 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133267.2 +1 validated p.E234D 1.000 88 0% 76 46.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like PDGFRA 5156 genome.wustl.edu 37 4 55133720 55133720 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006206.4 +1 reviewed p.E311D 1.000 92 0% 30 46.7% 3 0% benign(0.001) tolerated(0.3) neutral(0.029) NULL KIT 3815 genome.wustl.edu 37 4 55573326 55573326 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000222.2 +1 reviewed p.N330D 0.846 117 0% 120 42.5% 0 - benign(0) tolerated(0.78) neutral(0.001) HMMSmart_IG,superfamily_SSF48726 KDR 3791 genome.wustl.edu 37 4 55976728 55976728 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002253.2 -1 reviewed p.K366T 1.000 105 0% 51 35.3% 3 0% possibly_damaging(0.887) deleterious(0) deleterious(0.791) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CLOCK 9575 genome.wustl.edu 37 4 56345848 56345848 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004898.2 -1 reviewed p.F22 1.000 437 0% 145 42.8% 4 100% - - - NULL PDCL2 132954 genome.wustl.edu 37 4 56428674 56428674 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152401.2 -1 reviewed p.Y156 1.000 153 0% 98 36.7% 0 - - - - HMMPfam_Phosducin,superfamily_Thiordxn-like_fd CEP135 9662 genome.wustl.edu 37 4 56818327 56818327 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025009.3 +1 validated p.N11H 1.000 41 0% 44 52.3% 2 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL CEP135 9662 genome.wustl.edu 37 4 56823401 56823401 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025009.3 +1 validated p.R162I 1.000 200 0% 66 40.9% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CEP135 9662 genome.wustl.edu 37 4 56858128 56858128 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025009.3 +1 validated p.S629Y 1.000 47 0% 41 43.9% 1 100% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL CEP135 9662 genome.wustl.edu 37 4 56884001 56884001 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025009.3 +1 validated p.S997L 0.983 55 0% 34 50% 5 0% possibly_damaging(0.659) tolerated(0.31) neutral(0.260) NULL KIAA1211 57482 genome.wustl.edu 37 4 57179420 57179420 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020722.1 +1 validated p.E138K 1.000 144 0% 90 52.2% 16 43.7% unknown(0) deleterious(0) - NULL KIAA1211 57482 genome.wustl.edu 37 4 57181931 57181931 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020722.1 +1 validated p.E755K 0.002 85 0% 40 30% 27 55.5% probably_damaging(0.991) tolerated(0.08) deleterious(0.744) NULL AASDH 132949 genome.wustl.edu 37 4 57219673 57219673 + Silent SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181806.2 -1 validated p.A491 0.016 77 0% 71 42.3% 2 50% - - - superfamily_Acetyl-CoA synthetase-like SRP72 6731 genome.wustl.edu 37 4 57340275 57340275 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006947.3 +1 validated p.R137Q 1.000 160 0% 121 41.3% 87 48.2% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) superfamily_SSF48452 HOPX 84525 genome.wustl.edu 37 4 57514964 57514964 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145460.1 -1 reviewed e4-1 1.000 35 0% 20 55% 0 - - - - - HOPX 84525 genome.wustl.edu 37 4 57516883 57516883 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145460.1 -1 reviewed p.F98 0.000 84 0% 60 40% 0 - - - - NULL LOC644578 644578 genome.wustl.edu 37 4 64216397 64216397 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_927694.2 +1 model p.L244I 1.000 67 0% 67 35.8% 0 - - - - "HMMPfam_La,HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" EPHA5 2044 genome.wustl.edu 37 4 66218787 66218787 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004439.5 -1 reviewed p.E757D 0.999 167 0% 41 39% 0 - possibly_damaging(0.863) deleterious(0) deleterious(0.778) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) STAP1 26228 genome.wustl.edu 37 4 68472019 68472019 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012108.2 +1 reviewed p.E278* 0.995 181 0% 121 41.3% 1 0% - - - NULL UBA6 55236 genome.wustl.edu 37 4 68514788 68514788 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018227.5 -1 validated p.W416R 1.000 69 0% 86 43% 10 30% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_Activating enzymes of the ubiquitin-like proteins UBA6 55236 genome.wustl.edu 37 4 68536260 68536260 + Silent SNP G G A rs140398587 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018227.5 -1 validated p.F199 0.425 152 0.7% 142 50% 10 20% - - - HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins TMPRSS11F 389208 genome.wustl.edu 37 4 68934446 68934446 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207407.2 -1 validated p.E215D 0.827 105 0% 15 26.7% 0 - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys TMPRSS11F 389208 genome.wustl.edu 37 4 68964699 68964699 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207407.2 -1 validated p.Q23 0.892 108 0% 27 55.6% 0 - - - - NULL UGT2B17 7367 genome.wustl.edu 37 4 69426320 69426320 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077.3 -1 reviewed p.I314V 1.000 592 0% 148 36.5% 0 - benign(0) tolerated(1) - HMMPfam_UDPGT,superfamily_SSF53756 UGT2B17 7367 genome.wustl.edu 37 4 69434027 69434027 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077.3 -1 reviewed p.S59L 0.005 143 0% 75 42.7% 0 - possibly_damaging(0.656) deleterious(0.01) deleterious(0.637) HMMPfam_UDPGT,superfamily_SSF53756 UGT2B15 7366 genome.wustl.edu 37 4 69535816 69535816 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001076.2 -1 validated p.R174Q 0.901 252 0% 104 49% 0 - probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69681867 69681867 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001075.4 +1 validated p.E44* 0.456 148 0% 36 44.4% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69682379 69682379 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001075.4 +1 validated p.L214 0.002 151 0% 59 37.3% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B11 10720 genome.wustl.edu 37 4 69870835 69870835 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000381096 -1 known p.M443I 0.977 216 0% 45 40% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B7 7364 genome.wustl.edu 37 4 69962910 69962910 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001074.2 +1 validated p.F224 0.000 197 0% 127 29.9% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B11 10720 genome.wustl.edu 37 4 70080027 70080027 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001073.1 -1 provisional p.K138N 0.357 224 0% 49 14.3% 0 - benign(0.002) tolerated(0.23) neutral(0.042) HMMPfam_UDPGT,superfamily_SSF53756 UGT2B11 10720 genome.wustl.edu 37 4 70080140 70080140 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001073.1 -1 provisional p.R101* 0.000 218 0% 68 10.3% 0 - - - - HMMPfam_UDPGT,superfamily_SSF53756 UGT2B28 54490 genome.wustl.edu 37 4 70160262 70160262 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053039.1 +1 provisional p.V442A 0.024 164 0% 26 30.8% 0 - benign(0) tolerated(0.61) neutral(0.004) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A2 574537 genome.wustl.edu 37 4 70504707 70504707 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105677.1 -1 inferred p.R210 1.000 125 0% 25 56% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A2 574537 genome.wustl.edu 37 4 70505286 70505286 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105677.1 -1 inferred p.E17* 0.000 202 0% 47 46.8% 0 - - - - NULL UGT2A1 10941 genome.wustl.edu 37 4 70512737 70512737 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006798.2 -1 validated p.R209I 0.979 132 0% 30 36.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SULT1E1 6783 genome.wustl.edu 37 4 70707773 70707773 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005420.2 -1 reviewed p.F275C 1.000 185 0% 186 45.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases SULT1E1 6783 genome.wustl.edu 37 4 70715228 70715228 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005420.2 -1 reviewed p.F141L 0.053 68 0% 28 57.1% 0 - benign(0.019) deleterious(0.01) neutral(0.407) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases FDCSP 260436 genome.wustl.edu 37 4 71099778 71099778 + Silent SNP C C T rs192079267 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152997.2 +1 validated p.F44 0.006 207 0% 51 41.2% 2 0% - - - NULL CSN3 1448 genome.wustl.edu 37 4 71115128 71115128 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005212.2 +1 validated p.T167 0.000 88 0% 39 46.2% 0 - - - - HMMPfam_Casein_kappa MUC7 4589 genome.wustl.edu 37 4 71347534 71347534 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145006.1 +1 reviewed p.R358Q 0.000 293 0% 128 26.6% 0 - probably_damaging(0.982) - - NULL SLC4A4 8671 genome.wustl.edu 37 4 72306476 72306476 + Silent SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134742.1 +1 reviewed p.V317 0.940 231 0% 97 46.4% 2 100% - - - HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr GC 2638 genome.wustl.edu 37 4 72611898 72611898 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000583.2 -1 reviewed p.L474M 0.000 68 0% 80 36.2% 0 - benign(0.229) deleterious(0) neutral(0.468) NULL NPFFR2 10886 genome.wustl.edu 37 4 73013271 73013271 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004885.2 +1 reviewed p.F437L 1.000 104 0% 32 56.2% 0 - benign(0.176) tolerated(0.1) neutral(0.302) superfamily_Family A G protein-coupled receptor-like ADAMTS3 9508 genome.wustl.edu 37 4 73185097 73185097 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014243.1 -1 reviewed p.R435H 1.000 97 0% 25 36% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS3 9508 genome.wustl.edu 37 4 73433106 73433106 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014243.1 -1 reviewed p.E28* 1.000 133 0% 132 40.9% 0 - - - - HMMPfam_Pep_M12B_propep ANKRD17 26057 genome.wustl.edu 37 4 73985994 73985994 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032217.3 -1 reviewed p.L1304I 1.000 256 0% 66 36.4% 27 44.4% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD17 26057 genome.wustl.edu 37 4 74010527 74010527 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032217.3 -1 reviewed p.R631I 1.000 131 0% 62 54.8% 29 34.4% possibly_damaging(0.874) tolerated(0.09) deleterious(0.636) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ALB 213 genome.wustl.edu 37 4 74272369 74272369 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000477.5 +1 reviewed p.Y54F 0.994 404 0% 220 50% 0 - benign(0.006) tolerated(0.41) neutral(0.015) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ALB 213 genome.wustl.edu 37 4 74279272 74279272 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000477.5 +1 reviewed p.P327S 0.000 154 0% 49 42.9% 0 - benign(0.001) tolerated(0.92) - superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ALB 213 genome.wustl.edu 37 4 74281975 74281975 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000511370 +1 known p.R243* 0.000 176 0% 125 38.4% 0 - - - - PatternScan_ALBUMIN,superfamily_Serum albumin-like AFM 173 genome.wustl.edu 37 4 74349659 74349659 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001133.2 +1 reviewed p.E30D 0.100 58 0% 55 45.5% 0 - benign(0) tolerated(0.68) neutral(0.002) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 IL8 3576 genome.wustl.edu 37 4 74607378 74607378 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000584.2 +1 reviewed p.A62T 0.000 100 0% 45 51.1% 8 50% benign(0.011) tolerated(0.27) neutral(0.034) HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines,PatternScan_SMALL_CYTOKINES_CXC CXCL1 2919 genome.wustl.edu 37 4 74735635 74735635 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001511.2 +1 validated p.K79N 0.983 127 0% 99 45.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC MTHFD2L 441024 genome.wustl.edu 37 4 75040313 75040313 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144978.1 +1 provisional p.G78 0.997 120 0% 44 43.2% 2 0% - - - HMMPfam_THF_DHG_CYH,superfamily_Aminoacid dehydrogenase-like N-terminal domain MTHFD2L 441024 genome.wustl.edu 37 4 75147244 75147244 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144978.1 +1 provisional p.L303* 0.995 231 0% 54 55.6% 3 33.3% - - - HMMPfam_THF_DHG_CYH_C,superfamily_NAD(P)-binding Rossmann-fold domains BTC 685 genome.wustl.edu 37 4 75681098 75681098 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000512743 -1 known p.S63L 1.000 320 0% 94 50% 2 50% - - - NULL RCHY1 25898 genome.wustl.edu 37 4 76434118 76434118 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015436.2 -1 reviewed p.T80A 0.959 172 0% 64 42.2% 28 39.2% benign(0) tolerated(0.19) neutral(0.050) HMMPfam_zf-CHY THAP6 152815 genome.wustl.edu 37 4 76452207 76452207 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144721.4 +1 validated p.L151R 1.000 74 0% 68 51.5% 5 80% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL THAP6 152815 genome.wustl.edu 37 4 76452235 76452235 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144721.4 +1 validated p.G160 1.000 93 0% 89 36% 5 40% - - - NULL CDKL2 8999 genome.wustl.edu 37 4 76523348 76523348 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003948.3 -1 reviewed p.V311 0.996 38 0% 95 48.4% 0 - - - - superfamily_Protein kinase-like (PK-like) CDKL2 8999 genome.wustl.edu 37 4 76532519 76532519 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003948.3 -1 reviewed p.E130D 0.998 80 0% 78 44.9% 0 - possibly_damaging(0.877) deleterious(0) deleterious(0.786) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase USO1 8615 genome.wustl.edu 37 4 76695903 76695903 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003715.2 +1 reviewed p.R171* 1.000 101 0% 89 47.2% 36 55.5% - - - NULL PPEF2 5470 genome.wustl.edu 37 4 76787372 76787372 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006239.2 -1 reviewed p.K630N 0.101 340 0% 120 39.2% 0 - benign(0.025) tolerated(0.07) neutral(0.320) superfamily_Metallo-dependent phosphatases SDAD1 55153 genome.wustl.edu 37 4 76886947 76886947 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018115.2 -1 validated p.A358 0.994 193 0% 63 34.9% 33 39.3% - - - superfamily_ARM repeat CXCL10 3627 genome.wustl.edu 37 4 76943548 76943548 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001565.2 -1 reviewed p.K83N 0.956 384 0% 158 13.9% 35 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 NUP54 53371 genome.wustl.edu 37 4 77057388 77057388 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017426.2 -1 reviewed p.N158T 1.000 123 0% 94 43.6% 18 44.4% benign(0.003) tolerated(0.68) neutral(0.002) NULL CCDC158 339965 genome.wustl.edu 37 4 77305285 77305285 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042784.1 -1 validated p.E228* 1.000 98 0% 63 38.1% 0 - - - - NULL SHROOM3 57619 genome.wustl.edu 37 4 77661801 77661801 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020859.3 +1 validated p.F825 0.000 23 0% 27 22.2% 10 60% - - - NULL SHROOM3 57619 genome.wustl.edu 37 4 77700114 77700114 + Silent SNP G G T rs187465619 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020859.3 +1 validated p.V1925 1.000 123 0% 32 46.9% 38 31.5% - - - HMMPfam_ASD2 GK2 2712 genome.wustl.edu 37 4 80329176 80329176 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033214.2 -1 validated p.I60S 1.000 371 0% 209 41.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FGGY_N,superfamily_SSF53067 ANTXR2 118429 genome.wustl.edu 37 4 80940126 80940126 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145794.1 -1 reviewed p.L291I 1.000 109 0% 83 34.9% 3 33.3% benign(0.008) tolerated(0.61) neutral(0.004) HMMPfam_Anth_Ig LIN54 132660 genome.wustl.edu 37 4 83860829 83860829 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194282.2 -1 validated p.R435W 1.000 538 0% 163 51.5% 5 60% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL HPSE 10855 genome.wustl.edu 37 4 84222231 84222231 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098540.1 -1 validated p.L452 0.997 202 0% 132 37.1% 1 0% - - - NULL HPSE 10855 genome.wustl.edu 37 4 84227368 84227368 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098540.1 -1 validated p.F398 0.361 263 0% 91 48.4% 1 100% - - - superfamily_(Trans)glycosidases HPSE 10855 genome.wustl.edu 37 4 84232011 84232011 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098540.1 -1 validated p.F236V 1.000 121 0% 110 44.5% 0 - benign(0.03) tolerated(0.49) neutral(0.012) HMMPfam_Glyco_hydro_79n,superfamily_(Trans)glycosidases HPSE 10855 genome.wustl.edu 37 4 84240580 84240580 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098540.1 -1 validated p.K139R 0.000 252 0% 275 44.7% 0 - benign(0) tolerated(0.56) neutral(0.006) HMMPfam_Glyco_hydro_79n,superfamily_(Trans)glycosidases HELQ 113510 genome.wustl.edu 37 4 84339284 84339284 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133636.2 -1 validated p.E1009* 1.000 93 0% 119 12.6% 5 0% - - - NULL HELQ 113510 genome.wustl.edu 37 4 84350853 84350853 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133636.2 -1 validated p.F781C 1.000 126 0% 106 50% 3 33.3% possibly_damaging(0.719) deleterious(0) deleterious(0.705) NULL HELQ 113510 genome.wustl.edu 37 4 84358098 84358098 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133636.2 -1 validated p.L654R 0.900 221 0% 140 40.7% 3 66.6% benign(0.369) deleterious(0.01) deleterious(0.523) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases HELQ 113510 genome.wustl.edu 37 4 84369974 84369974 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133636.2 -1 validated p.L385V 1.000 85 0% 99 50.5% 1 0% possibly_damaging(0.849) tolerated(0.91) neutral(0.326) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM175A 84142 genome.wustl.edu 37 4 84393378 84393378 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139076.2 -1 validated p.K93N 1.000 60 0% 133 19.5% 8 50% possibly_damaging(0.753) deleterious(0.03) deleterious(0.641) NULL CDS1 1040 genome.wustl.edu 37 4 85538809 85538809 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001263.3 +1 reviewed p.L145 0.021 222 0% 135 49.6% 13 53.8% - - - HMMPfam_CTP_transf_1 WDFY3 23001 genome.wustl.edu 37 4 85699690 85699690 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014991.4 -1 reviewed p.S1495* 1.000 287 0% 62 38.7% 4 25% - - - NULL PTPN13 5783 genome.wustl.edu 37 4 87655927 87655927 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080685.2 +1 reviewed p.R684* 1.000 283 0% 71 36.6% 2 0% - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 SLC10A6 345274 genome.wustl.edu 37 4 87770102 87770102 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_197965.2 -1 validated p.R56Q 0.000 39 0% 23 69.6% 0 - benign(0.002) tolerated(0.42) neutral(0.014) HMMPfam_SBF AFF1 4299 genome.wustl.edu 37 4 88036213 88036213 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005935.2 +1 validated p.K736R 0.001 80 0% 27 44.4% 4 0% unknown(0) tolerated(1) - HMMPfam_AF-4 KLHL8 57563 genome.wustl.edu 37 4 88084715 88084715 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020803.3 -1 validated p.R607* 1.000 194 0% 108 46.3% 5 100% - - - NULL KLHL8 57563 genome.wustl.edu 37 4 88091294 88091294 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020803.3 -1 validated p.E492* 1.000 224 0% 69 27.5% 10 10% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL8 57563 genome.wustl.edu 37 4 88106885 88106885 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020803.3 -1 validated p.M95L 1.000 67 1.5% 25 40% 3 33.3% possibly_damaging(0.754) deleterious(0) deleterious(0.723) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB SPARCL1 8404 genome.wustl.edu 37 4 88415319 88415319 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128310.1 -1 validated p.V211 0.001 451 0% 238 46.6% 31 0% - - - NULL DSPP 1834 genome.wustl.edu 37 4 88534064 88534064 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014208.3 +1 reviewed p.S242 0.135 253 0% 133 46.6% 0 - - - - NULL DSPP 1834 genome.wustl.edu 37 4 88536645 88536645 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014208.3 +1 reviewed p.S944N 0.996 941 0.2% 188 42.6% 0 - unknown(0) - - NULL DSPP 1834 genome.wustl.edu 37 4 88537398 88537398 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014208.3 +1 reviewed p.S1195I 0.306 724 0.3% 119 40.3% 0 - unknown(0) - - NULL DSPP 1834 genome.wustl.edu 37 4 88537488 88537488 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014208.3 +1 reviewed p.S1225N 1.000 659 0% 105 41% 0 - unknown(0) - - NULL DMP1 1758 genome.wustl.edu 37 4 88583651 88583651 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004407.3 +1 reviewed p.E241* 0.024 137 0% 26 46.2% 0 - - - - HMMPfam_DMP1 IBSP 3381 genome.wustl.edu 37 4 88732557 88732557 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004967.3 +1 reviewed p.D150G 0.984 245 0% 67 46.3% 0 - possibly_damaging(0.798) deleterious(0.01) deleterious(0.706) HMMPfam_BSP_II MEPE 56955 genome.wustl.edu 37 4 88767456 88767456 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020203.3 +1 validated p.S479Y 0.000 48 0% 21 23.8% 0 - benign(0.001) tolerated(0.21) neutral(0.044) NULL ABCG2 9429 genome.wustl.edu 37 4 89034656 89034656 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004827.2 -1 reviewed p.K331N 0.070 200 0% 163 38.7% 0 - benign(0.002) tolerated(0.39) neutral(0.016) NULL ABCG2 9429 genome.wustl.edu 37 4 89052262 89052262 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004827.2 -1 reviewed p.I161S 0.996 797 0% 134 47% 1 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases PPM1K 152926 genome.wustl.edu 37 4 89199550 89199550 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152542.3 -1 validated p.D62E 1.000 170 0% 66 51.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HERC6 55008 genome.wustl.edu 37 4 89363508 89363508 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017912.3 +1 validated p.L989I 0.080 196 0% 66 22.7% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC5 51191 genome.wustl.edu 37 4 89397029 89397029 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016323.2 +1 reviewed p.L477R 0.060 109 0% 202 43.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HERC3 8916 genome.wustl.edu 37 4 89601316 89601316 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014606.1 +1 provisional p.E757* 1.000 189 0% 118 44.9% 5 40% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain FAM13A 10144 genome.wustl.edu 37 4 89652526 89652526 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014883.2 -1 validated p.R966Q 1.000 50 0% 39 46.2% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM13A 10144 genome.wustl.edu 37 4 89859188 89859188 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000509094 -1 known p.K270N 0.000 43 0% 40 50% 0 - benign(0.008) - - NULL FAM13A 10144 genome.wustl.edu 37 4 89859189 89859189 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000509094 -1 known p.K270T 0.000 43 0% 39 48.7% 0 - benign(0) - - NULL TIGD2 166815 genome.wustl.edu 37 4 90034798 90034798 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145715.2 +1 reviewed p.L225I 1.000 42 0% 62 14.5% 13 7.6% probably_damaging(0.999) tolerated(0.3) deleterious(0.519) HMMPfam_DDE TMSB4XP8 7117 genome.wustl.edu 37 4 91760064 91760064 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183049.2 -1 validated p.G42D 0.998 43 0% 24 29.2% 5208 0% benign(0.001) - - HMMPfam_Thymosin,HMMSmart_THY GRID2 2895 genome.wustl.edu 37 4 94159636 94159636 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001510.2 +1 validated p.R414* 1.000 132 0% 21 52.4% 0 - - - - superfamily_SSF53822 GRID2 2895 genome.wustl.edu 37 4 94376978 94376978 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001510.2 +1 validated p.A571T 1.000 361 0% 72 29.2% 0 - probably_damaging(0.966) tolerated(0.08) deleterious(0.708) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 BMPR1B 658 genome.wustl.edu 37 4 96073798 96073798 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001203.2 +1 reviewed p.I419M 0.438 97 0% 31 48.4% 12 58.3% benign(0.015) deleterious(0.03) neutral(0.365) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase UNC5C 8633 genome.wustl.edu 37 4 96123919 96123919 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003728.2 -1 reviewed p.R700Q 1.000 158 0% 44 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UNC5C 8633 genome.wustl.edu 37 4 96140360 96140360 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003728.2 -1 reviewed p.P469S 1.000 473 0% 107 34.6% 0 - probably_damaging(0.998) tolerated(0.37) deleterious(0.493) NULL PDHA2 5161 genome.wustl.edu 37 4 96761547 96761547 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005390.4 +1 validated p.Q82H 1.000 100 0% 43 51.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_E1_dh,superfamily_SSF52518 PDHA2 5161 genome.wustl.edu 37 4 96761743 96761743 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005390.4 +1 validated p.G148* 1.000 131 0% 66 36.4% 0 - - - - HMMPfam_E1_dh,superfamily_SSF52518 PDHA2 5161 genome.wustl.edu 37 4 96762427 96762427 + Missense_Mutation SNP C C T rs17024795 byCluster;byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005390.4 +1 validated p.R376C 1.000 126 0% 36 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52518 C4orf37 285555 genome.wustl.edu 37 4 98865070 98865070 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174952.2 -1 validated p.R341I 0.008 164 0% 52 9.6% 0 - benign(0.031) deleterious(0.01) neutral(0.407) NULL C4orf37 285555 genome.wustl.edu 37 4 98902465 98902465 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174952.2 -1 validated p.F206C 1.000 411 0% 130 56.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TSPAN5 10098 genome.wustl.edu 37 4 99399860 99399860 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005723.3 -1 reviewed p.F184L 0.997 148 0% 81 43.2% 12 0% benign(0.004) tolerated(0.39) neutral(0.016) superfamily_Tetraspanin,HMMPfam_Tetraspannin ADH5 128 genome.wustl.edu 37 4 99997954 99997954 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000671.3 -1 reviewed p.I155 1.000 106 0% 69 15.9% 262 6.4% - - - superfamily_GroES-like,HMMPfam_ADH_N ADH1C 126 genome.wustl.edu 37 4 100260758 100260758 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000669.3 -1 reviewed p.F360C 1.000 120 0% 101 42.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GroES-like ADH1C 126 genome.wustl.edu 37 4 100266091 100266091 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000669.3 -1 reviewed p.S165 0.544 167 0.6% 45 35.6% 1 100% - - - superfamily_GroES-like ADH7 131 genome.wustl.edu 37 4 100349052 100349052 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000673.4 -1 reviewed p.E160K 1.000 319 0% 50 32% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_GroES_like,HMMPfam_ADH_N EMCN 51705 genome.wustl.edu 37 4 101344505 101344505 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016242.3 -1 validated p.P158T 0.000 502 0% 72 41.7% 0 - benign(0.15) tolerated(0.12) neutral(0.274) HMMPfam_Endomucin SLC39A8 64116 genome.wustl.edu 37 4 103228665 103228665 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135146.1 -1 reviewed p.K160N 1.000 170 0% 51 58.8% 18 55.5% possibly_damaging(0.76) tolerated(0.15) deleterious(0.522) HMMPfam_Zip SLC9B1 150159 genome.wustl.edu 37 4 103831601 103831601 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139173.2 -1 reviewed p.E361* 0.949 29 0% 25 48% 0 - - - - HMMPfam_Na_H_Exchanger SLC9B2 133308 genome.wustl.edu 37 4 103949935 103949935 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178833.4 -1 validated p.S454Y 1.000 58 0% 18 38.9% 3 33.3% possibly_damaging(0.95) deleterious(0) deleterious(0.838) HMMPfam_Na_H_Exchanger SLC9B2 133308 genome.wustl.edu 37 4 103988745 103988745 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000508136 -1 known p.S104L 0.002 186 0% 99 43.4% 3 33.3% benign(0.122) deleterious(0.01) neutral(0.416) superfamily_NAD(P)-binding Rossmann-fold domains BDH2 56898 genome.wustl.edu 37 4 104003252 104003252 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020139.3 -1 validated p.L224V 0.672 233 0% 90 51.1% 92 38% benign(0.168) deleterious(0) neutral(0.460) superfamily_NAD(P)-binding Rossmann-fold domains CENPE 1062 genome.wustl.edu 37 4 104029996 104029996 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001813.2 -1 validated p.R2659C 0.386 309 0% 124 34.7% 32 40.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CENPE 1062 genome.wustl.edu 37 4 104070372 104070372 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001813.2 -1 validated p.S1197Y 0.011 195 0% 129 38.8% 4 50% possibly_damaging(0.952) tolerated(0.92) neutral(0.396) NULL TET2 54790 genome.wustl.edu 37 4 106155474 106155474 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127208.1 +1 validated p.F125 0.917 120 0% 28 42.9% 1 0% - - - NULL TET2 54790 genome.wustl.edu 37 4 106156071 106156071 + Missense_Mutation SNP A A C rs35215495 byCluster;byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127208.1 +1 validated p.Q324H 0.001 258 0% 58 53.4% 4 50% possibly_damaging(0.437) deleterious(0) deleterious(0.587) NULL TET2 54790 genome.wustl.edu 37 4 106157375 106157375 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127208.1 +1 validated p.T759N 0.594 102 0% 68 33.8% 5 60% possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL TET2 54790 genome.wustl.edu 37 4 106157540 106157540 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127208.1 +1 validated p.R814H 0.225 71 0% 45 46.7% 3 0% benign(0) tolerated(0.07) neutral(0.319) NULL TET2 54790 genome.wustl.edu 37 4 106157965 106157965 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127208.1 +1 validated p.L956I 1.000 106 0% 26 50% 5 60% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TET2 54790 genome.wustl.edu 37 4 106196632 106196632 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127208.1 +1 validated p.P1655 0.346 259 0% 56 46.4% 7 28.5% - - - NULL PPA2 27068 genome.wustl.edu 37 4 106320208 106320208 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176869.2 -1 reviewed p.E257* 1.000 182 0% 96 42.7% 49 2% - - - HMMPfam_Pyrophosphatase,superfamily_Inorganic pyrophosphatase ARHGEF38 54848 genome.wustl.edu 37 4 106552100 106552100 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017700.1 +1 validated p.K185T 1.000 165 0% 72 40.3% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_RhoGEF,superfamily_DH-domain INTS12 57117 genome.wustl.edu 37 4 106614540 106614540 + Nonsense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142471.1 -1 validated p.L138* 0.984 472 0% 141 42.6% 14 21.4% - - - NULL TBCK 93627 genome.wustl.edu 37 4 107157567 107157567 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033115.3 -1 validated p.L381I 1.000 104 0% 30 36.7% 4 50% possibly_damaging(0.896) deleterious(0.01) deleterious(0.759) superfamily_RabGAP_TBC LEF1 51176 genome.wustl.edu 37 4 109088804 109088804 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016269.4 -1 reviewed p.E40D 1.000 55 0% 66 43.9% 81 41.9% probably_damaging(0.974) tolerated(0.14) deleterious(0.665) HMMPfam_CTNNB1_binding AGXT2L1 64850 genome.wustl.edu 37 4 109672126 109672126 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031279.3 -1 validated p.I223L 1.000 113 0% 69 50.7% 0 - benign(0.004) tolerated(0.63) neutral(0.004) HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases AGXT2L1 64850 genome.wustl.edu 37 4 109680977 109680977 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031279.3 -1 validated p.I88T 1.000 166 0% 125 44% 0 - benign(0.408) deleterious(0.01) deleterious(0.538) HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases SEC24B 10427 genome.wustl.edu 37 4 110445982 110445982 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006323.2 +1 reviewed p.Q839H 0.310 139 0% 162 39.5% 17 35.2% benign(0.002) tolerated(0.26) neutral(0.034) HMMPfam_Sec23_trunk,superfamily_vWA-like,superfamily_beta-sandwich domain of Sec23/24 GAR1 54433 genome.wustl.edu 37 4 110740179 110740179 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018983.3 +1 reviewed p.E131G 1.000 201 0% 174 42% 37 43.2% possibly_damaging(0.839) deleterious(0.01) deleterious(0.726) HMMPfam_Gar1 LRIT3 345193 genome.wustl.edu 37 4 110772982 110772982 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198506.2 +1 validated p.E102* 0.998 138 0% 38 44.7% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LRIT3 345193 genome.wustl.edu 37 4 110773055 110773055 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198506.2 +1 validated p.D126A 1.000 92 0% 23 43.5% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LRIT3 345193 genome.wustl.edu 37 4 110790809 110790809 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198506.2 +1 validated p.E257* 1.000 159 0% 77 40.3% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin EGF 1950 genome.wustl.edu 37 4 110932475 110932475 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001963.4 +1 reviewed p.R1163Q 0.000 42 0% 19 36.8% 0 - benign(0.005) tolerated(0.33) neutral(0.024) NULL ENPEP 2028 genome.wustl.edu 37 4 111430812 111430812 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001977.3 +1 validated p.K348T 1.000 146 0% 116 40.5% 0 - possibly_damaging(0.487) deleterious(0.04) deleterious(0.511) "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" ALPK1 80216 genome.wustl.edu 37 4 113345108 113345108 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102406.1 +1 validated p.L162V 0.096 327 0% 97 39.2% 4 50% possibly_damaging(0.83) tolerated(0.19) neutral(0.365) NULL ALPK1 80216 genome.wustl.edu 37 4 113352013 113352013 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102406.1 +1 validated p.F437S 0.999 195 0% 77 46.8% 4 50% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ALPK1 80216 genome.wustl.edu 37 4 113352752 113352752 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102406.1 +1 validated p.F683L 0.000 95 0% 31 35.5% 1 0% benign(0.001) tolerated(0.07) neutral(0.319) NULL C4orf21 55345 genome.wustl.edu 37 4 113482133 113482133 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000505019 -1 known p.V1572 0.000 266 0.4% 240 46.3% 1 0% - - - NULL C4orf21 55345 genome.wustl.edu 37 4 113508527 113508527 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000505019 -1 known p.S1229F 0.031 187 0% 58 37.9% 0 - benign(0.055) deleterious(0) neutral(0.448) NULL C4orf21 55345 genome.wustl.edu 37 4 113539642 113539642 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000505019 -1 known p.S519Y 0.000 181 0% 144 40.3% 2 50% possibly_damaging(0.745) deleterious(0.02) deleterious(0.657) NULL ANK2 287 genome.wustl.edu 37 4 114277614 114277614 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001148.4 +1 reviewed p.E2614* 0.933 244 0% 52 13.5% 0 - - - - NULL ANK2 287 genome.wustl.edu 37 4 114278087 114278087 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001148.4 +1 reviewed p.I2771 0.100 112 0% 23 56.5% 0 - - - - NULL ANK2 287 genome.wustl.edu 37 4 114278656 114278656 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001148.4 +1 reviewed p.S2961Y 0.996 237 0% 65 35.4% 0 - benign(0.019) - - NULL NDST4 64579 genome.wustl.edu 37 4 115769406 115769406 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022569.1 -1 provisional p.F635L 1.000 277 0% 325 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 TRAM1L1 133022 genome.wustl.edu 37 4 118005617 118005617 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152402.2 -1 validated p.V311 0.194 154 0% 162 45.7% 9 55.5% - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC METTL14 57721 genome.wustl.edu 37 4 119618401 119618401 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020961.2 +1 provisional p.L190I 1.000 67 0% 100 15% 11 9% probably_damaging(0.994) deleterious(0.05) deleterious(0.797) HMMPfam_MT-A70 SEC24D 9871 genome.wustl.edu 37 4 119673896 119673896 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014822.2 -1 reviewed p.D523E 1.000 146 0% 48 31.2% 40 47.5% probably_damaging(0.964) tolerated(0.1) deleterious(0.693) HMMPfam_Sec23_trunk,superfamily_vWA-like SEC24D 9871 genome.wustl.edu 37 4 119745899 119745899 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014822.2 -1 reviewed p.M42V 0.999 15 0.000 9 0.444 23 26% benign(0.031) tolerated(0.35) neutral(0.022) NULL SYNPO2 171024 genome.wustl.edu 37 4 119951207 119951207 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133477.2 +1 validated p.E426G 0.836 350 0% 108 51.9% 4 0% benign(0.001) deleterious(0) neutral(0.445) NULL SYNPO2 171024 genome.wustl.edu 37 4 119951718 119951718 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000504178 +1 known p.E548* 0.015 86 0% 42 11.9% 2 0% - - - NULL SYNPO2 171024 genome.wustl.edu 37 4 119952399 119952399 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000504178 +1 known p.R775C 0.022 151 0% 73 37% 1 0% - - - NULL SYNPO2 171024 genome.wustl.edu 37 4 119952400 119952400 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133477.2 +1 validated p.V824M 0.226 149 0% 71 53.5% 1 0% benign(0.313) tolerated(0.09) neutral(0.394) NULL SYNPO2 171024 genome.wustl.edu 37 4 119952980 119952980 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133477.2 +1 validated p.T1017M 0.048 110 0% 49 30.6% 2 0% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL USP53 54532 genome.wustl.edu 37 4 120193173 120193173 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019050.2 +1 validated p.E720* 0.986 31 0% 40 52.5% 12 8.3% - - - NULL C4orf3 401152 genome.wustl.edu 37 4 120225513 120225513 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000399075 -1 known p.Y30H 0.004 463 0.2% 278 46% 0 - possibly_damaging(0.819) - - NULL PDE5A 8654 genome.wustl.edu 37 4 120446754 120446754 + Missense_Mutation SNP G G A rs182361575 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083.3 -1 reviewed p.R577W 1.000 143 0% 28 39.3% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HD-domain/PDEase-like PRDM5 11107 genome.wustl.edu 37 4 121739566 121739566 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018699.2 -1 reviewed p.E198* 1.000 167 0% 94 51.1% 2 100% - - - superfamily_C2H2 and C2HC zinc fingers NDNF 79625 genome.wustl.edu 37 4 121958349 121958349 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024574.3 -1 validated p.S259 0.000 247 0% 64 45.3% 1 100% - - - HMMSmart_FN3,superfamily_FN_III-like NDNF 79625 genome.wustl.edu 37 4 121966889 121966889 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024574.3 -1 validated p.R35Q 1.000 56 0% 58 44.8% 0 - benign(0.069) deleterious(0.03) neutral(0.369) NULL TNIP3 79931 genome.wustl.edu 37 4 122075787 122075787 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128843.1 -1 validated p.E137D 0.997 356 0% 340 38.8% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL QRFPR 84109 genome.wustl.edu 37 4 122251587 122251587 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198179.2 -1 validated p.E297* 0.999 169 0% 47 46.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 QRFPR 84109 genome.wustl.edu 37 4 122254041 122254041 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198179.2 -1 validated p.K244N 1.000 237 0% 82 52.4% 0 - possibly_damaging(0.461) tolerated(0.11) neutral(0.422) HMMPfam_7tm_1,superfamily_SSF81321 EXOSC9 5393 genome.wustl.edu 37 4 122722639 122722639 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001034194.1 +1 validated p.E20D 1.000 34 0% 32 43.8% 29 37.9% benign(0.037) tolerated(0.12) neutral(0.263) NULL CCNA2 890 genome.wustl.edu 37 4 122743561 122743561 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001237.3 -1 validated p.F152V 1.000 119 0% 152 50.7% 33 48.4% benign(0.005) tolerated(0.54) neutral(0.007) NULL BBS7 55212 genome.wustl.edu 37 4 122747030 122747030 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176824.1 -1 reviewed p.F711L 1.000 151 0.7% 200 52.5% 3 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL BBS7 55212 genome.wustl.edu 37 4 122756435 122756435 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176824.1 -1 reviewed p.R459C 1.000 442 0% 140 45% 10 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TRPC3 7222 genome.wustl.edu 37 4 122824086 122824086 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130698.1 -1 validated p.R795Q 1.000 297 0% 65 41.5% 0 - benign(0.378) tolerated(0.41) neutral(0.136) NULL TRPC3 7222 genome.wustl.edu 37 4 122825576 122825576 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130698.1 -1 validated p.N718K 1.000 183 0% 53 41.5% 0 - possibly_damaging(0.68) deleterious(0.02) deleterious(0.625) HMMPfam_Ion_trans KIAA1109 84162 genome.wustl.edu 37 4 123156170 123156170 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015312.3 +1 reviewed p.I1189S 0.875 82 0% 118 35.6% 1 0% benign(0) tolerated(0.43) neutral(0.013) NULL KIAA1109 84162 genome.wustl.edu 37 4 123170766 123170766 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015312.3 +1 reviewed p.R1880Q 1.000 202 0% 60 46.7% 2 100% possibly_damaging(0.942) tolerated(0.18) neutral(0.443) NULL KIAA1109 84162 genome.wustl.edu 37 4 123175371 123175371 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015312.3 +1 reviewed p.D1982Y 1.000 156 0% 87 43.7% 5 40% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL KIAA1109 84162 genome.wustl.edu 37 4 123207750 123207750 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015312.3 +1 reviewed p.S3031* 1.000 266 0% 90 10% 10 0% - - - NULL ADAD1 132612 genome.wustl.edu 37 4 123305067 123305067 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139243.3 +1 validated p.L159F 1.000 216 0% 108 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like BBS12 166379 genome.wustl.edu 37 4 123664678 123664678 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152618.2 +1 reviewed p.F544C 0.895 199 0% 164 44.5% 10 90% possibly_damaging(0.941) deleterious(0.01) deleterious(0.792) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like SPATA5 166378 genome.wustl.edu 37 4 123848905 123848905 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145207.2 +1 validated p.K94Q 1.000 131 0% 120 51.7% 6 33.3% benign(0.057) deleterious(0.02) neutral(0.387) superfamily_ADC-like FAT4 79633 genome.wustl.edu 37 4 126240278 126240278 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024582.4 +1 validated p.E904D 1.000 68 0% 51 41.2% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126370496 126370496 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024582.4 +1 validated p.Q2775H 0.747 38 0% 25 40% 1 0% benign(0.422) tolerated(0.08) neutral(0.437) superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126370701 126370701 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024582.4 +1 validated p.R2844* 1.000 62 0% 26 42.3% 1 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126371731 126371731 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024582.4 +1 validated p.V3187A 1.000 42 0% 14 42.9% 7 14.2% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126372690 126372690 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024582.4 +1 validated p.G3507R 1.000 98 0% 38 52.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126373570 126373570 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024582.4 +1 validated p.S3800Y 0.908 99 0% 27 37% 4 50% possibly_damaging(0.931) tolerated(0.55) neutral(0.385) superfamily_EGF/Laminin FAT4 79633 genome.wustl.edu 37 4 126398357 126398357 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024582.4 +1 validated p.S4114Y 0.983 159 0.6% 88 40.9% 4 25% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 INTU 27152 genome.wustl.edu 37 4 128590286 128590286 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015693.3 +1 validated p.N356 1.000 160 0% 50 42% 3 66.6% - - - NULL SLC25A31 83447 genome.wustl.edu 37 4 128651923 128651923 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031291.2 +1 validated p.R75C 0.016 21 0.000 9 0.444 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Mitoch_carrier,HMMPfam_Mito_carr HSPA4L 22824 genome.wustl.edu 37 4 128743961 128743961 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014278.2 +1 provisional p.R617I 1.000 92 0% 58 43.1% 9 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_HSP70,superfamily_SSF100920 PLK4 10733 genome.wustl.edu 37 4 128807454 128807454 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014264.3 +1 reviewed p.R310I 1.000 42 0% 90 42.2% 12 50% possibly_damaging(0.878) tolerated(0.12) deleterious(0.603) superfamily_Kinase_like PHF17 79960 genome.wustl.edu 37 4 129793345 129793345 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199320.2 +1 validated p.K819N 0.830 82 0% 26 46.2% 24 41.6% probably_damaging(0.978) tolerated(0.68) neutral(0.422) NULL PABPC4L 132430 genome.wustl.edu 37 4 135121430 135121430 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114734.1 -1 validated p.E249* 0.834 120 0% 101 11.9% 5 20% - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PCDH18 54510 genome.wustl.edu 37 4 138450798 138450798 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019035.3 -1 reviewed p.E815D 1.000 232 0% 42 45.2% 11 36.3% probably_damaging(0.996) tolerated(0.4) deleterious(0.478) NULL PCDH18 54510 genome.wustl.edu 37 4 138452077 138452077 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019035.3 -1 reviewed p.S389Y 1.000 118 0% 53 41.5% 8 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SLC7A11 23657 genome.wustl.edu 37 4 139106302 139106302 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014331.3 -1 validated p.E296 0.989 128 0% 20 50% 1 100% - - - HMMPfam_AA_permease SLC7A11 23657 genome.wustl.edu 37 4 139140480 139140480 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014331.3 -1 validated p.D229G 1.000 148 0% 66 45.5% 1 0% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_AA_permease NAA15 80155 genome.wustl.edu 37 4 140306065 140306065 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_057175.3 +1 validated p.T745 0.076 75 0% 59 39% 18 44.4% - - - NULL SETD7 80854 genome.wustl.edu 37 4 140441447 140441447 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030648.2 -1 validated p.R249Q 1.000 115 0% 114 49.1% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MAML3 55534 genome.wustl.edu 37 4 141074206 141074206 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018717.4 -1 validated p.E92D 1.000 60 0% 21 33.3% 4 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_MamL-1 INPP4B 8821 genome.wustl.edu 37 4 143007359 143007359 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001101669.1 -1 reviewed p.L809I 1.000 122 0% 42 38.1% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL INPP4B 8821 genome.wustl.edu 37 4 143067025 143067025 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001101669.1 -1 reviewed p.S563* 0.001 463 0% 64 40.6% 0 - - - - NULL INPP4B 8821 genome.wustl.edu 37 4 143130163 143130163 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001101669.1 -1 reviewed p.E285* 1.000 126 0% 80 41.2% 0 - - - - NULL INPP4B 8821 genome.wustl.edu 37 4 143159104 143159104 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001101669.1 -1 reviewed p.R250Q 0.945 84 0% 48 41.7% 0 - benign(0.014) tolerated(0.18) neutral(0.057) NULL USP38 84640 genome.wustl.edu 37 4 144130761 144130761 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032557.5 +1 validated p.S483* 1.000 98 0% 41 34.1% 6 66.6% - - - HMMPfam_UCH,superfamily_Cysteine proteinases GAB1 2549 genome.wustl.edu 37 4 144336738 144336738 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207123.2 +1 reviewed p.D61Y 1.000 211 0% 132 42.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SMARCA5 8467 genome.wustl.edu 37 4 144445525 144445525 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003601.2 +1 reviewed p.R142Q 1.000 82 0% 71 39.4% 36 47.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52540 SMARCA5 8467 genome.wustl.edu 37 4 144467954 144467954 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003601.2 +1 reviewed p.D849A 1.000 185 0% 56 28.6% 132 46.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SANT,superfamily_Homeodomain_like,superfamily_SSF52540 SMARCA5 8467 genome.wustl.edu 37 4 144474309 144474309 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003601.2 +1 reviewed p.R1044Q 1.000 261 0% 90 43.3% 246 47.5% benign(0.029) tolerated(0.23) neutral(0.043) NULL FREM3 166752 genome.wustl.edu 37 4 144618816 144618816 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000329798 -1 known p.E1005K 0.997 116 0% 58 46.6% 0 - possibly_damaging(0.659) tolerated(0.27) neutral(0.266) NULL ABCE1 6059 genome.wustl.edu 37 4 146031299 146031299 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040876.1 +1 reviewed p.S150 0.972 58 0% 43 34.9% 29 48.2% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCE1 6059 genome.wustl.edu 37 4 146038505 146038505 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040876.1 +1 reviewed p.C287 1.000 299 0% 112 39.3% 21 23.8% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases OTUD4 54726 genome.wustl.edu 37 4 146058959 146058959 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102653.1 -1 reviewed p.E925* 1.000 125 0% 109 45% 12 25% - - - NULL OTUD4 54726 genome.wustl.edu 37 4 146059262 146059262 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102653.1 -1 reviewed p.E824* 1.000 78 0% 39 41% 8 75% - - - NULL SLC10A7 84068 genome.wustl.edu 37 4 147204409 147204409 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029998.3 -1 validated p.S261L 1.000 67 0% 28 50% 4 0% benign(0) tolerated(1) - NULL POU4F2 5458 genome.wustl.edu 37 4 147561190 147561190 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004575.2 +1 validated p.A154T 1.000 327 0.3% 81 42% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL POU4F2 5458 genome.wustl.edu 37 4 147561909 147561909 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004575.2 +1 validated p.F393L 1.000 47 0% 20 45% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 TMEM184C 55751 genome.wustl.edu 37 4 148545217 148545217 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018241.2 +1 validated p.L87I 1.000 204 0% 313 45.7% 12 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF300 PRMT10 90826 genome.wustl.edu 37 4 148563980 148563980 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138364.2 -1 provisional p.R719 0.217 118 0% 81 44.4% 13 53.8% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases DCLK2 166614 genome.wustl.edu 37 4 151141906 151141906 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040260.2 +1 validated p.L370F 0.896 207 0% 130 40.8% 1 0% benign(0.141) tolerated(0.07) neutral(0.331) superfamily_Protein kinase-like (PK-like) DCLK2 166614 genome.wustl.edu 37 4 151168773 151168773 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040260.2 +1 validated p.E599D 1.000 17 0% 54 37% 1 0% possibly_damaging(0.463) tolerated(0.13) neutral(0.404) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LRBA 987 genome.wustl.edu 37 4 151271169 151271169 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006726.2 -1 validated p.S2457* 1.000 152 0% 96 16.7% 43 0% - - - HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like LRBA 987 genome.wustl.edu 37 4 151509256 151509256 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006726.2 -1 validated p.E2103K 1.000 84 0% 39 48.7% 26 30.7% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_PH domain-like LRBA 987 genome.wustl.edu 37 4 151749588 151749588 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006726.2 -1 validated p.E1639K 1.000 424 0% 71 59.2% 20 30% probably_damaging(0.995) tolerated(0.21) deleterious(0.502) superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151773328 151773328 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006726.2 -1 validated p.G1178 0.000 118 0% 71 45.1% 6 50% - - - superfamily_ARM repeat PRSS48 345062 genome.wustl.edu 37 4 152204388 152204388 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183375.2 +1 provisional p.E201* 0.249 253 0% 64 43.8% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys FBXW7 55294 genome.wustl.edu 37 4 153244184 153244184 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033632.2 -1 reviewed p.R658Q 1.000 282 0% 64 46.9% 8 25% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMSmart_SM00320 FBXW7 55294 genome.wustl.edu 37 4 153253775 153253775 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033632.2 -1 reviewed p.L320I 1.000 150 0% 24 37.5% 6 0% benign(0.023) tolerated(0.29) neutral(0.030) HMMPfam_F-box,HMMSmart_SM00256,superfamily_WD40 repeat-like,superfamily_F-box domain FBXW7 55294 genome.wustl.edu 37 4 153259071 153259071 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033632.2 -1 reviewed p.E248D 1.000 304 0.3% 86 53.5% 7 57.1% benign(0.01) tolerated(0.29) neutral(0.030) superfamily_WD40 repeat-like TMEM154 201799 genome.wustl.edu 37 4 153573830 153573830 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152680.1 -1 provisional p.R105I 0.002 186 0% 286 46.5% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TIGD4 201798 genome.wustl.edu 37 4 153691638 153691638 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145720.2 -1 reviewed p.D173E 1.000 38 0% 86 24.4% 0 - benign(0.001) tolerated(0.16) neutral(0.059) NULL TIGD4 201798 genome.wustl.edu 37 4 153691681 153691681 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145720.2 -1 reviewed p.S159L 0.949 27 3.7% 55 45.5% 0 - possibly_damaging(0.837) tolerated(0.74) neutral(0.321) NULL FHDC1 85462 genome.wustl.edu 37 4 153897017 153897017 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033393.2 +1 validated p.D858E 0.000 15 0% 16 37.5% 7 28.5% benign(0.229) tolerated(0.26) neutral(0.057) NULL KIAA0922 23240 genome.wustl.edu 37 4 154502001 154502001 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015196.3 +1 validated p.L228 0.978 404 0.2% 374 44.4% 2 50% - - - NULL KIAA0922 23240 genome.wustl.edu 37 4 154504810 154504810 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015196.3 +1 validated p.S349Y 1.000 202 0% 139 46% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0922 23240 genome.wustl.edu 37 4 154506758 154506758 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015196.3 +1 validated p.L435 0.999 187 0% 99 45.5% 4 50% - - - NULL KIAA0922 23240 genome.wustl.edu 37 4 154507436 154507436 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015196.3 +1 validated p.D462N 1.000 233 0% 168 47% 1 0% benign(0.002) tolerated(0.83) neutral(0.001) NULL TLR2 7097 genome.wustl.edu 37 4 154624565 154624565 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003264.3 +1 reviewed p.D169A 1.000 98 0% 69 44.9% 5 60% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) superfamily_SSF52058 DCHS2 54798 genome.wustl.edu 37 4 155161967 155161967 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017639.3 -1 validated p.P1906S 1.000 194 0% 37 54.1% 0 - probably_damaging(0.978) tolerated(0.1) deleterious(0.707) HMMPfam_Cadherin,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155191073 155191073 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017639.3 -1 validated p.L1731I 0.906 76 0% 35 28.6% 0 - benign(0.028) tolerated(0.26) neutral(0.036) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155253923 155253923 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017639.3 -1 validated p.R647Q 0.629 57 0% 61 31.1% 1 0% probably_damaging(0.988) tolerated(0.6) neutral(0.442) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155254107 155254107 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017639.3 -1 validated p.E586K 1.000 109 0% 38 26.3% 0 - possibly_damaging(0.903) tolerated(0.12) deleterious(0.619) superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155287473 155287473 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017639.3 -1 validated p.E195K 1.000 185 0% 36 63.9% 2 100% probably_damaging(0.999) tolerated(0.37) deleterious(0.509) HMMPfam_Cadherin,superfamily_Cadherin-like FGA 2243 genome.wustl.edu 37 4 155506776 155506776 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000508.3 -1 reviewed p.K602T 0.223 190 0% 48 52.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL LRAT 9227 genome.wustl.edu 37 4 155665754 155665754 + Silent SNP C C A rs61750456 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004744.3 +1 reviewed p.V92 0.884 75 0% 35 42.9% 2 50% - - - NULL RBM46 166863 genome.wustl.edu 37 4 155719112 155719112 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144979.3 +1 validated p.R101* 1.000 320 0% 225 41.3% 0 - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RBM46 166863 genome.wustl.edu 37 4 155720468 155720468 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144979.3 +1 validated p.S385Y 1.000 98 0% 40 45% 0 - possibly_damaging(0.91) deleterious(0) deleterious(0.807) NULL NPY2R 4887 genome.wustl.edu 37 4 156135876 156135876 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000910.2 +1 provisional p.R262Q 1.000 254 0% 61 39.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GUCY1A3 2982 genome.wustl.edu 37 4 156632182 156632182 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000856.4 +1 validated p.H289N 1.000 80 0% 18 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HNOBA GUCY1A3 2982 genome.wustl.edu 37 4 156643194 156643194 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000856.4 +1 validated p.R574Q 1.000 578 0% 56 44.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase GUCY1B3 2983 genome.wustl.edu 37 4 156725862 156725862 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000857.2 +1 validated p.E558* 1.000 181 0% 46 58.7% 2 0% - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain GLRB 2743 genome.wustl.edu 37 4 158091772 158091772 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000824.4 +1 reviewed p.A462 0.998 280 0% 77 15.6% 19 5.2% - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GRIA2 2891 genome.wustl.edu 37 4 158262549 158262549 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000826.3 +1 reviewed p.L660I 1.000 263 0% 41 39% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 FAM198B 51313 genome.wustl.edu 37 4 159092389 159092389 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031700.2 -1 validated p.Y47D 1.000 31 0.000 8 0.625 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM144 55314 genome.wustl.edu 37 4 159138544 159138544 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018342.4 +1 validated p.N102D 1.000 386 0.3% 82 52.4% 2 50% possibly_damaging(0.95) deleterious(0.03) deleterious(0.758) HMMPfam_DUF1632 RXFP1 59350 genome.wustl.edu 37 4 159533502 159533502 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021634.2 +1 provisional p.S223Y 1.000 114 0% 185 43.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_L domain-like RXFP1 59350 genome.wustl.edu 37 4 159568347 159568347 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021634.2 +1 provisional p.F584V 1.000 48 0% 49 42.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPID 5481 genome.wustl.edu 37 4 159640344 159640344 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005038.2 -1 reviewed p.N107K 1.000 158 0% 222 39.6% 87 42.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like RAPGEF2 9693 genome.wustl.edu 37 4 160251115 160251115 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014247.2 +1 validated p.R258* 1.000 170 0% 86 52.3% 1 100% - - - superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160253611 160253611 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014247.2 +1 validated p.E472* 1.000 79 0% 64 40.6% 5 40% - - - superfamily_PDZ,superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160264190 160264190 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014247.2 +1 validated p.K832T 1.000 151 0% 135 46.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160273927 160273927 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014247.2 +1 validated p.S1158L 1.000 179 0.6% 149 40.9% 6 33.3% benign(0.253) tolerated(0.1) neutral(0.312) NULL RAPGEF2 9693 genome.wustl.edu 37 4 160274803 160274803 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014247.2 +1 validated p.D1258A 0.997 84 0% 55 49.1% 2 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL MARCH1 55016 genome.wustl.edu 37 4 164506906 164506906 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017923.3 -1 validated p.R123 0.987 196 0.5% 27 37% 2 0% - - - NULL TRIM75 391714 genome.wustl.edu 37 4 165980780 165980780 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000322402 +1 known p.L161V 0.001 111 0% 94 50% 0 - - - - NULL MSMO1 6307 genome.wustl.edu 37 4 166263025 166263025 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006745.3 +1 reviewed p.R270Q 0.008 174 0% 73 47.9% 38 28.9% benign(0.086) tolerated(0.12) neutral(0.267) NULL CPE 1363 genome.wustl.edu 37 4 166416799 166416799 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001873.2 +1 reviewed p.K434N 1.000 153 0% 81 43.2% 49 57.1% probably_damaging(0.96) tolerated(0.66) neutral(0.406) HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain ANXA10 11199 genome.wustl.edu 37 4 169102845 169102845 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007193.3 +1 reviewed p.R246* 0.988 340 0% 560 46.6% 0 - - - - superfamily_Annexin DDX60 55601 genome.wustl.edu 37 4 169197322 169197322 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017631.5 -1 validated p.T663 0.004 223 0% 144 38.9% 3 0% - - - NULL DDX60L 91351 genome.wustl.edu 37 4 169336896 169336896 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012967.1 -1 validated p.E927 0.010 169 0% 70 40% 3 66.6% - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60L 91351 genome.wustl.edu 37 4 169379109 169379109 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012967.1 -1 validated p.E219D 0.012 155 0% 143 42% 3 33.3% possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL PALLD 23022 genome.wustl.edu 37 4 169632924 169632924 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016081.3 +1 reviewed p.A605V 0.106 235 0% 79 44.3% 5 40% benign(0) tolerated(0.29) neutral(0.029) NULL NEK1 4750 genome.wustl.edu 37 4 170321696 170321696 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012224.1 -1 validated p.F1202L 1.000 110 0% 109 95.4% 4 100% benign(0.054) tolerated(0.15) neutral(0.244) NULL NEK1 4750 genome.wustl.edu 37 4 170476874 170476874 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012224.1 -1 validated p.N520S 0.997 121 0% 66 33.3% 0 - benign(0.002) tolerated(0.37) neutral(0.019) NULL NEK1 4750 genome.wustl.edu 37 4 170506511 170506511 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012224.1 -1 validated p.L266I 1.000 113 0% 84 36.9% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Protein kinase-like (PK-like) C4orf27 54969 genome.wustl.edu 37 4 170669943 170669943 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017867.2 -1 validated p.K150T 1.000 86 0% 123 45.5% 11 9% benign(0.038) tolerated(0.26) neutral(0.036) HMMPfam_DUF2228 MFAP3L 9848 genome.wustl.edu 37 4 170912544 170912544 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021647.6 -1 validated p.Y405 0.775 382 0% 159 42.1% 0 - - - - NULL GALNTL6 442117 genome.wustl.edu 37 4 173873375 173873375 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001034845.2 +1 validated p.P446H 1.000 71 0% 21 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ricin B-like lectins MORF4 10934 genome.wustl.edu 37 4 174537324 174537324 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006792.2 -1 validated p.I157M 1.000 604 0% 162 45.1% 0 - - - - HMMPfam_MRG GLRA3 8001 genome.wustl.edu 37 4 175649825 175649825 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006529.2 -1 validated p.R98C 1.000 98 0% 44 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like ADAM29 11086 genome.wustl.edu 37 4 175898347 175898347 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130703.1 +1 reviewed p.E557D 0.323 157 0% 35 54.3% 0 - benign(0.032) tolerated(0.34) neutral(0.025) HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM29 11086 genome.wustl.edu 37 4 175898474 175898474 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130703.1 +1 reviewed p.D600Y 1.000 164 0% 44 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00608 WDR17 116966 genome.wustl.edu 37 4 177041140 177041140 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170710.4 +1 reviewed p.D168Y 0.982 158 0% 82 36.6% 0 - possibly_damaging(0.623) deleterious(0.03) deleterious(0.582) HMMSmart_WD40,superfamily_Amine_DH_B_like WDR17 116966 genome.wustl.edu 37 4 177071068 177071068 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170710.4 +1 reviewed p.L694M 1.000 107 0.9% 73 53.4% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL WDR17 116966 genome.wustl.edu 37 4 177071649 177071649 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170710.4 +1 reviewed p.L761V 0.982 118 0% 82 43.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SPATA4 132851 genome.wustl.edu 37 4 177114186 177114186 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144644.2 -1 provisional p.I130 0.998 56 0% 102 33.3% 0 - - - - HMMPfam_DUF1042 ASB5 140458 genome.wustl.edu 37 4 177138097 177138097 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080874.2 -1 reviewed p.S245N 0.672 302 0% 122 48.4% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NEIL3 55247 genome.wustl.edu 37 4 178257299 178257299 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018248.2 +1 validated p.K151E 1.000 132 0% 70 48.6% 7 57.1% benign(0) tolerated(1) - superfamily_N-terminal domain of MutM-like DNA repair proteins ODZ3 55714 genome.wustl.edu 37 4 183549948 183549948 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080477.1 +1 provisional p.F298L 1.000 86 0% 35 40% 2 0% benign(0.001) tolerated(1) - HMMPfam_Ten_N ODZ3 55714 genome.wustl.edu 37 4 183652202 183652202 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080477.1 +1 provisional p.F959 0.991 297 0.3% 146 49.3% 1 100% - - - superfamily_ConA_like_lec_gl ODZ3 55714 genome.wustl.edu 37 4 183673037 183673037 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080477.1 +1 provisional p.I1238M 0.998 89 0% 36 50% 0 - possibly_damaging(0.7) deleterious(0) deleterious(0.696) superfamily_ConA_like_lec_gl,superfamily_SSF101898 ODZ3 55714 genome.wustl.edu 37 4 183714188 183714188 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080477.1 +1 provisional p.P2121 0.988 50 0% 63 39.7% 1 0% - - - NULL ODZ3 55714 genome.wustl.edu 37 4 183714274 183714274 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080477.1 +1 provisional p.R2150Q 1.000 88 1.1% 81 49.4% 1 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_RHS_repeat ODZ3 55714 genome.wustl.edu 37 4 183714393 183714393 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080477.1 +1 provisional p.R2190W 0.771 99 1% 104 45.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL WWC2 80014 genome.wustl.edu 37 4 184182396 184182396 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024949.5 +1 validated p.P540 1.000 116 0% 92 46.7% 9 44.4% - - - NULL TRAPPC11 60684 genome.wustl.edu 37 4 184603955 184603955 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021942.4 +1 validated p.R395I 1.000 108 0% 139 48.2% 3 66.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TRAPPC11 60684 genome.wustl.edu 37 4 184615841 184615841 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021942.4 +1 validated p.V865I 0.999 105 1% 105 35.2% 8 12.5% benign(0.001) tolerated(0.34) neutral(0.023) NULL TRAPPC11 60684 genome.wustl.edu 37 4 184627969 184627969 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021942.4 +1 validated p.S1022* 0.986 133 0% 99 54.5% 16 12.5% - - - HMMPfam_DUF1683 ENPP6 133121 genome.wustl.edu 37 4 185012350 185012350 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153343.3 -1 validated p.L435I 0.005 69 0% 26 42.3% 0 - unknown(0) tolerated(0.17) - NULL ENPP6 133121 genome.wustl.edu 37 4 185045377 185045377 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153343.3 -1 validated p.Y157C 1.000 164 0% 94 42.6% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP6 133121 genome.wustl.edu 37 4 185138817 185138817 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153343.3 -1 validated p.E52D 1.000 78 0% 52 30.8% 0 - benign(0) tolerated(0.47) neutral(0.011) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP6 133121 genome.wustl.edu 37 4 185138823 185138823 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153343.3 -1 validated p.F50L 0.997 77 0% 54 59.3% 0 - probably_damaging(0.999) tolerated(0.71) deleterious(0.492) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core CASP3 836 genome.wustl.edu 37 4 185553062 185553062 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004346.3 -1 reviewed p.F114V 1.000 131 0% 190 44.7% 38 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C14,HMMSmart_SM00115,PatternScan_CASPASE_HIS,superfamily_Caspase-like CCDC111 201973 genome.wustl.edu 37 4 185582935 185582935 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152683.2 +1 validated p.L96I 1.000 52 0% 92 47.8% 2 50% probably_damaging(1) tolerated(0.36) deleterious(0.520) NULL MLF1IP 79682 genome.wustl.edu 37 4 185616486 185616486 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024629.3 -1 validated p.R405* 0.955 111 0% 92 41.3% 133 45.1% - - - NULL MLF1IP 79682 genome.wustl.edu 37 4 185623263 185623263 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024629.3 -1 validated p.L302M 0.963 169 0% 226 42% 128 50% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL ACSL1 2180 genome.wustl.edu 37 4 185724638 185724638 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001995.2 -1 reviewed p.R11* 1.000 150 0% 68 45.6% 9 33.3% - - - NULL SLC25A4 291 genome.wustl.edu 37 4 186066073 186066073 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001151.3 +1 reviewed p.F89 0.999 78 0% 103 35.9% 103 43.6% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A4 291 genome.wustl.edu 37 4 186066382 186066382 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001151.3 +1 reviewed p.F192 0.987 19 0% 33 33.3% 123 39.8% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr KIAA1430 57587 genome.wustl.edu 37 4 186112079 186112079 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020827.1 -1 validated p.S91Y 0.002 197 0% 387 46% 15 26.6% possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL SNX25 83891 genome.wustl.edu 37 4 186283084 186283084 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031953.2 +1 validated p.I722 1.000 67 0% 70 42.9% 19 31.5% - - - HMMPfam_Nexin_C UFSP2 55325 genome.wustl.edu 37 4 186336327 186336327 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000511485 -1 known p.A136T 1.000 145 0% 101 38.6% 22 22.7% - - - NULL C4orf47 441054 genome.wustl.edu 37 4 186357438 186357438 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114357.1 +1 predicted p.G153 1.000 65 0% 131 51.9% 1 100% - - - NULL CCDC110 256309 genome.wustl.edu 37 4 186379559 186379559 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152775.3 -1 validated p.E728* 1.000 84 0% 163 47.9% 0 - - - - NULL CCDC110 256309 genome.wustl.edu 37 4 186380662 186380662 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152775.3 -1 validated p.E360A 0.971 135 0% 290 44.1% 0 - possibly_damaging(0.677) deleterious(0.05) deleterious(0.587) NULL SORBS2 8470 genome.wustl.edu 37 4 186533063 186533063 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021069.4 -1 reviewed p.R985 1.000 356 0% 242 45% 111 54% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain SORBS2 8470 genome.wustl.edu 37 4 186544524 186544524 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021069.4 -1 reviewed p.E683K 0.989 207 0% 204 41.7% 0 - possibly_damaging(0.454) tolerated(0.45) neutral(0.161) NULL F11 2160 genome.wustl.edu 37 4 187194256 187194256 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000128.3 +1 reviewed p.E84* 1.000 109 0% 49 53.1% 0 - - - - HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 F11 2160 genome.wustl.edu 37 4 187201170 187201170 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000128.3 +1 reviewed p.L254I 1.000 83 0% 53 39.6% 0 - possibly_damaging(0.946) tolerated(0.29) neutral(0.419) HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 FAT1 2195 genome.wustl.edu 37 4 187509973 187509973 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005245.3 -1 reviewed p.E4514* 1.000 148 0% 87 40.2% 73 71.2% - - - NULL FAT1 2195 genome.wustl.edu 37 4 187539828 187539828 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005245.3 -1 reviewed p.D2638N 1.000 64 0% 55 56.4% 16 31.2% possibly_damaging(0.697) tolerated(0.34) neutral(0.273) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187584594 187584594 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005245.3 -1 reviewed p.E1147* 0.999 166 0% 175 46.9% 4 50% - - - HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187628202 187628202 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005245.3 -1 reviewed p.F927C 0.997 89 0% 98 42.9% 5 40% probably_damaging(1) tolerated(0.18) deleterious(0.556) superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like SDHA 6389 genome.wustl.edu 37 5 233681 233681 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004168.2 +1 reviewed p.R329* 1.000 151 0% 133 48.9% 122 3.2% - - - HMMPfam_FAD_binding_2,superfamily_FAD/NAD(P)-binding domain,superfamily_Succinate dehydrogenase/fumarate reductase flavoprotein catalytic domain AHRR 57491 genome.wustl.edu 37 5 434588 434588 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020731.3 +1 reviewed p.S600Y 0.001 61 0% 36 52.8% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL C5orf55 116349 genome.wustl.edu 37 5 442836 442836 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138464.2 -1 validated p.N34 0.009 29 0% 40 47.5% 15 60% - - - NULL TRIP13 9319 genome.wustl.edu 37 5 916037 916037 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004237.3 +1 reviewed p.S384 0.245 166 0% 85 40% 30 46.6% - - - HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC6A19 340024 genome.wustl.edu 37 5 1216685 1216685 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000452116 +1 known p.E270* 1.000 38 0% 53 49.1% 0 - - - - NULL SLC6A19 340024 genome.wustl.edu 37 5 1216840 1216840 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000452116 +1 known p.A321 0.000 22 0% 31 51.6% 0 - - - - NULL TERT 7015 genome.wustl.edu 37 5 1264629 1264629 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198253.2 -1 reviewed p.D911 0.000 29 0% 18 44.4% 9 44.4% - - - NULL LOC100288833 100288833 genome.wustl.edu 37 5 2755246 2755246 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342504.1 -1 model p.E77K 0.000 4 0.000 46 0.522 0 - unknown(0) - - NULL ADAMTS16 170690 genome.wustl.edu 37 5 5306692 5306692 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139056.2 +1 reviewed p.R1088* 0.924 37 0% 71 49.3% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat KIAA0947 23379 genome.wustl.edu 37 5 5461768 5461768 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015325.1 +1 validated p.S774Y 0.003 303 0% 166 47.6% 4 75% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SRD5A1 6715 genome.wustl.edu 37 5 6668359 6668359 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001047.2 +1 validated p.I253S 0.319 76 0% 250 11.6% 15 6.6% benign(0.015) tolerated(0.06) neutral(0.323) HMMPfam_Steroid_dh ADCY2 108 genome.wustl.edu 37 5 7766897 7766897 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020546.2 +1 reviewed p.A731V 0.763 225 0% 91 46.2% 1 0% benign(0) tolerated(0.41) neutral(0.015) NULL ADCY2 108 genome.wustl.edu 37 5 7789781 7789781 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020546.2 +1 reviewed p.F832L 1.000 88 0% 152 40.8% 2 50% possibly_damaging(0.531) tolerated(0.21) neutral(0.223) NULL FASTKD3 79072 genome.wustl.edu 37 5 7866989 7866989 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024091.2 -1 validated p.F403C 0.017 55 0% 79 20.3% 5 40% possibly_damaging(0.569) tolerated(0.24) neutral(0.233) NULL SEMA5A 9037 genome.wustl.edu 37 5 9136715 9136715 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003966.2 -1 reviewed p.Q500H 1.000 172 0% 48 45.8% 5 20% probably_damaging(0.955) tolerated(0.17) neutral(0.458) HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold DNAH5 1767 genome.wustl.edu 37 5 13700959 13700959 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001369.2 -1 reviewed p.G4505C 1.000 191 0% 50 38% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13701534 13701534 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001369.2 -1 reviewed p.I4450 0.900 65 0% 37 29.7% 0 - - - - HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13716744 13716744 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001369.2 -1 reviewed p.R4254I 1.000 177 0% 108 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13754320 13754320 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001369.2 -1 reviewed p.R3516I 1.000 134 0% 43 37.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL DNAH5 1767 genome.wustl.edu 37 5 13776642 13776642 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001369.2 -1 reviewed p.E3093D 1.000 191 0% 20 40% 0 - benign(0.023) tolerated(0.22) neutral(0.043) superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13777373 13777373 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001369.2 -1 reviewed p.D3015Y 1.000 323 0% 73 39.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13841848 13841848 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001369.2 -1 reviewed p.E1813* 1.000 225 0% 88 39.8% 0 - - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13870998 13870998 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001369.2 -1 reviewed p.E1238* 1.000 212 0% 58 39.7% 0 - - - - superfamily_Spectrin DNAH5 1767 genome.wustl.edu 37 5 13928247 13928247 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001369.2 -1 reviewed p.R78Q 1.000 220 0% 102 41.2% 0 - benign(0.299) tolerated(0.62) neutral(0.097) NULL FAM105B 90268 genome.wustl.edu 37 5 14673809 14673809 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138348.4 +1 validated p.H71N 1.000 150 0% 223 43% 1 0% benign(0.006) tolerated(0.29) neutral(0.029) NULL FAM105B 90268 genome.wustl.edu 37 5 14693049 14693049 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000506417 +1 known p.S49G 0.309 182 0% 61 54.1% 15 33.3% - - - NULL MARCH11 441061 genome.wustl.edu 37 5 16177854 16177854 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102562.1 -1 provisional p.K225T 1.000 59 0% 106 47.2% 0 - benign(0.081) deleterious(0.02) neutral(0.389) NULL MYO10 4651 genome.wustl.edu 37 5 16681504 16681504 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012334.2 -1 validated p.E1433G 1.000 135 0% 134 41.8% 38 65.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 MYO10 4651 genome.wustl.edu 37 5 16701512 16701512 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012334.2 -1 validated p.E998K 1.000 68 0% 21 42.9% 47 46.8% benign(0.291) tolerated(0.53) neutral(0.097) NULL MYO10 4651 genome.wustl.edu 37 5 16701654 16701654 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012334.2 -1 validated p.I950 0.988 75 0% 36 16.7% 52 3.8% - - - NULL CDH12 1010 genome.wustl.edu 37 5 21975477 21975477 + Missense_Mutation SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004061.3 -1 reviewed p.D83E 1.000 151 0% 23 30.4% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH12 1010 genome.wustl.edu 37 5 22078677 22078677 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004061.3 -1 reviewed p.E37K 1.000 151 0% 28 42.9% 0 - benign(0.007) tolerated(0.48) neutral(0.011) NULL PRDM9 56979 genome.wustl.edu 37 5 23521146 23521146 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020227.2 +1 provisional p.A122 0.000 109 0% 98 52% 0 - - - - NULL CDH10 1008 genome.wustl.edu 37 5 24487881 24487881 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006727.2 -1 reviewed p.S753* 1.000 181 0% 49 44.9% 0 - - - - HMMPfam_Cadherin_C CDH10 1008 genome.wustl.edu 37 5 24511518 24511518 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006727.2 -1 reviewed p.R307Q 1.000 203 0% 45 46.7% 0 - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH10 1008 genome.wustl.edu 37 5 24537669 24537669 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006727.2 -1 reviewed p.R116* 1.000 184 0% 31 58.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PDZD2 23037 genome.wustl.edu 37 5 32088820 32088820 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178140.2 +1 reviewed p.S1756G 0.000 143 0% 82 43.9% 0 - benign(0.054) deleterious(0) neutral(0.448) NULL ZFR 51663 genome.wustl.edu 37 5 32379271 32379271 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016107.3 -1 validated p.L929I 1.000 68 0% 51 43.1% 44 52.2% possibly_damaging(0.942) tolerated(0.09) deleterious(0.683) HMMPfam_DZF,HMMSmart_DZF ZFR 51663 genome.wustl.edu 37 5 32388771 32388771 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016107.3 -1 validated p.R718C 1.000 114 0% 76 48.7% 70 44.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZFR 51663 genome.wustl.edu 37 5 32404116 32404116 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016107.3 -1 validated p.S373 0.552 408 0.2% 145 51% 33 63.6% - - - HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2 NPR3 4883 genome.wustl.edu 37 5 32724845 32724845 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000908.2 +1 validated p.M271V 1.000 351 0% 106 41.5% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I NPR3 4883 genome.wustl.edu 37 5 32774917 32774917 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000908.2 +1 validated p.I388S 1.000 235 0% 142 13.4% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ADAMTS12 81792 genome.wustl.edu 37 5 33576216 33576216 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030955.2 -1 reviewed p.Y1305 0.013 327 0% 62 53.2% 2 0% - - - NULL ADAMTS12 81792 genome.wustl.edu 37 5 33576290 33576290 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030955.2 -1 reviewed p.S1281T 0.000 348 0% 89 41.6% 1 0% possibly_damaging(0.844) tolerated(0.21) neutral(0.367) NULL ADAMTS12 81792 genome.wustl.edu 37 5 33624433 33624433 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030955.2 -1 reviewed p.I682 0.029 103 0% 27 51.9% 0 - - - - NULL ADAMTS12 81792 genome.wustl.edu 37 5 33683142 33683142 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030955.2 -1 reviewed p.I299T 1.000 155 0% 26 38.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS12 81792 genome.wustl.edu 37 5 33881323 33881323 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030955.2 -1 reviewed p.K130N 0.997 155 0% 32 28.1% 0 - possibly_damaging(0.803) tolerated(0.22) neutral(0.344) HMMPfam_Pep_M12B_propep TTC23L 153657 genome.wustl.edu 37 5 34845699 34845699 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144725.3 +1 validated p.A59V 0.000 138 0% 95 42.1% 0 - benign(0) tolerated(0.45) neutral(0.012) NULL BRIX1 55299 genome.wustl.edu 37 5 34918520 34918520 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018321.3 +1 validated p.N71H 1.000 34 0% 117 47.9% 46 47.8% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Brix AGXT2 64902 genome.wustl.edu 37 5 35035333 35035333 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031900.3 -1 reviewed p.S192Y 1.000 159 0% 69 59.4% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major SPEF2 79925 genome.wustl.edu 37 5 35641775 35641775 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024867.3 +1 validated p.T135N 0.800 71 0% 27 48.1% 3 66.6% possibly_damaging(0.465) tolerated(0.49) neutral(0.164) HMMPfam_DUF1042 SPEF2 79925 genome.wustl.edu 37 5 35759770 35759770 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024867.3 +1 validated p.R1190Q 0.668 80 0% 63 47.6% 1 100% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL SPEF2 79925 genome.wustl.edu 37 5 35793427 35793427 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024867.3 +1 validated p.F1574C 0.000 170 0% 55 41.8% 0 - probably_damaging(0.973) tolerated(0.18) deleterious(0.471) NULL IL7R 3575 genome.wustl.edu 37 5 35867526 35867526 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002185.2 +1 reviewed p.K114Q 0.002 111 0% 34 41.2% 0 - possibly_damaging(0.93) deleterious(0.02) deleterious(0.760) NULL IL7R 3575 genome.wustl.edu 37 5 35874597 35874597 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002185.2 +1 reviewed p.F251L 0.996 384 0% 141 41.1% 0 - benign(0) tolerated(0.76) neutral(0.001) NULL IL7R 3575 genome.wustl.edu 37 5 35876194 35876194 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002185.2 +1 reviewed p.P329H 0.200 130 0% 76 50% 1 0% possibly_damaging(0.701) deleterious(0) deleterious(0.697) NULL UGT3A1 133688 genome.wustl.edu 37 5 35954517 35954517 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152404.3 -1 validated p.Q453H 0.239 151 0% 30 53.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase LMBRD2 92255 genome.wustl.edu 37 5 36105249 36105249 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007527.1 -1 validated p.E650K 1.000 284 0% 41 31.7% 5 60% benign(0.028) tolerated(0.34) neutral(0.025) NULL LMBRD2 92255 genome.wustl.edu 37 5 36122400 36122400 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007527.1 -1 validated p.F368I 1.000 75 0% 69 44.9% 6 33.3% benign(0) tolerated(0.69) neutral(0.002) HMMPfam_LMBR1 NADKD1 133686 genome.wustl.edu 37 5 36225693 36225693 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001085411.1 -1 validated p.V171F 1.000 321 0% 103 49.5% 21 52.3% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_NAD_kinase,superfamily_NAD kinase (Pfam 01513) NIPBL 25836 genome.wustl.edu 37 5 37036581 37036581 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133433.3 +1 reviewed p.S1988Y 1.000 21 0% 22 68.2% 25 64% benign(0.137) deleterious(0) neutral(0.456) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37044790 37044790 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133433.3 +1 reviewed p.Q2101P 1.000 73 0% 80 47.5% 27 29.6% possibly_damaging(0.739) tolerated(0.05) deleterious(0.616) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37049318 37049318 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133433.3 +1 reviewed p.F2290C 1.000 222 0% 82 52.4% 40 45% probably_damaging(1) tolerated(0.24) deleterious(0.537) superfamily_ARM repeat C5orf42 65250 genome.wustl.edu 37 5 37125426 37125426 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023073.3 -1 predicted p.E1804* 0.996 489 0% 299 38.8% 12 41.6% - - - NULL C5orf42 65250 genome.wustl.edu 37 5 37180205 37180205 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023073.3 -1 predicted p.K764T 0.370 73 0% 96 47.9% 1 0% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) NULL C5orf42 65250 genome.wustl.edu 37 5 37186482 37186482 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023073.3 -1 predicted p.F246 0.982 80 0% 88 40.9% 2 50% - - - NULL C5orf42 65250 genome.wustl.edu 37 5 37198893 37198893 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023073.3 -1 predicted p.L76F 0.998 144 0% 73 43.8% 2 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL GDNF 2668 genome.wustl.edu 37 5 37816190 37816190 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000514.2 -1 reviewed p.F67V 1.000 138 0% 86 51.2% 1 0% possibly_damaging(0.894) deleterious(0) deleterious(0.796) NULL LIFR 3977 genome.wustl.edu 37 5 38530694 38530694 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127671.1 -1 reviewed p.R19I 0.002 392 0% 80 33.8% 0 - possibly_damaging(0.922) deleterious(0.03) deleterious(0.736) NULL RICTOR 253260 genome.wustl.edu 37 5 38945110 38945110 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152756.3 -1 validated p.V1565A 1.000 85 0% 50 52% 2 100% probably_damaging(0.974) tolerated(0.12) deleterious(0.676) superfamily_ARM repeat RICTOR 253260 genome.wustl.edu 37 5 38945790 38945790 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152756.3 -1 validated p.S1479Y 1.000 117 0% 47 34% 3 66.6% possibly_damaging(0.509) deleterious(0) deleterious(0.615) superfamily_ARM repeat C9 735 genome.wustl.edu 37 5 39285310 39285310 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001737.3 -1 reviewed p.N557 0.000 86 0% 35 34.3% 0 - - - - NULL C9 735 genome.wustl.edu 37 5 39288904 39288904 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001737.3 -1 reviewed p.M522I 0.575 314 0% 54 51.9% 0 - benign(0) tolerated(0.82) neutral(0.001) superfamily_SSF57196 DAB2 1601 genome.wustl.edu 37 5 39382955 39382955 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001343.2 -1 validated p.S369L 0.838 224 0% 52 42.3% 4 25% benign(0) tolerated(0.21) neutral(0.044) NULL TTC33 23548 genome.wustl.edu 37 5 40716488 40716488 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012382.2 -1 validated p.R183M 0.187 165 0.6% 101 34.7% 10 10% benign(0.029) deleterious(0.01) neutral(0.407) NULL TTC33 23548 genome.wustl.edu 37 5 40716593 40716593 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012382.2 -1 validated p.R148Q 1.000 79 0% 72 50% 3 66.6% probably_damaging(0.99) tolerated(0.18) deleterious(0.497) HMMSmart_SM00028,superfamily_TPR-like TTC33 23548 genome.wustl.edu 37 5 40728533 40728533 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012382.2 -1 validated p.E117* 1.000 56 0% 66 22.7% 7 14.2% - - - superfamily_TPR-like CARD6 84674 genome.wustl.edu 37 5 40843455 40843455 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032587.3 +1 reviewed p.A162V 0.003 67 0% 52 34.6% 4 50% benign(0.007) deleterious(0.02) neutral(0.383) NULL CARD6 84674 genome.wustl.edu 37 5 40852400 40852400 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032587.3 +1 reviewed p.P322 0.004 135 0% 77 45.5% 6 50% - - - NULL HEATR7B2 133558 genome.wustl.edu 37 5 41000444 41000444 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173489.4 -1 validated p.D1454Y 1.000 79 0% 18 38.9% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41019077 41019077 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173489.4 -1 validated p.L829I 1.000 347 0% 85 32.9% 0 - probably_damaging(0.993) tolerated(0.77) neutral(0.451) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41049411 41049411 + Missense_Mutation SNP G G A rs189991991 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173489.4 -1 validated p.S491L 0.949 258 0% 56 46.4% 0 - probably_damaging(0.959) tolerated(0.13) deleterious(0.655) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41054893 41054893 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173489.4 -1 validated p.I361 0.000 284 0% 97 38.1% 0 - - - - superfamily_ARM repeat C6 729 genome.wustl.edu 37 5 41181573 41181573 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000065.2 -1 reviewed p.S272* 0.000 281 0% 84 48.8% 0 - - - - NULL OXCT1 5019 genome.wustl.edu 37 5 41794170 41794170 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000436.3 -1 reviewed p.D395N 0.553 74 0% 44 38.6% 78 57.6% benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_CoA_trans,superfamily_SSF100950 C5orf51 285636 genome.wustl.edu 37 5 41909964 41909964 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175921.4 +1 validated p.I108M 0.999 77 0% 50 48% 6 50% possibly_damaging(0.685) tolerated(0.32) neutral(0.269) NULL FBXO4 26272 genome.wustl.edu 37 5 41929935 41929935 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012176.2 +1 reviewed p.E188* 1.000 383 0% 315 42.9% 8 37.5% - - - NULL GHR 2690 genome.wustl.edu 37 5 42718726 42718726 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000163.2 +1 reviewed p.S373P 0.964 97 0% 59 57.6% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL NIM1 167359 genome.wustl.edu 37 5 43246106 43246106 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153361.2 +1 provisional p.R77* 1.000 185 0% 52 48.1% 1 100% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C5orf34 375444 genome.wustl.edu 37 5 43509425 43509425 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000306862 -1 known p.R6Q 0.232 143 0% 160 43.1% 0 - benign(0.005) tolerated(0.24) neutral(0.037) NULL FGF10 2255 genome.wustl.edu 37 5 44388693 44388693 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004465.1 -1 reviewed p.S31F 1.000 97 0% 39 33.3% 0 - benign(0.195) deleterious(0.04) neutral(0.367) NULL HCN1 348980 genome.wustl.edu 37 5 45267314 45267314 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021072.2 -1 validated p.R554* 0.998 189 0% 59 45.8% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding HCN1 348980 genome.wustl.edu 37 5 45645327 45645327 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021072.2 -1 validated p.R270Q 1.000 89 0% 14 57.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 EMB 133418 genome.wustl.edu 37 5 49695699 49695699 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198449.2 -1 reviewed p.R320 1.000 224 0% 78 43.6% 3 66.6% - - - NULL PARP8 79668 genome.wustl.edu 37 5 50123843 50123843 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024615.3 +1 validated p.S681 1.000 316 0% 117 40.2% 23 34.7% - - - superfamily_ADP-ribosylation PARP8 79668 genome.wustl.edu 37 5 50124204 50124204 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024615.3 +1 validated p.N717D 1.000 398 0% 142 45.1% 38 50% benign(0.297) tolerated(0.53) neutral(0.100) HMMPfam_PARP,superfamily_ADP-ribosylation ITGA1 3672 genome.wustl.edu 37 5 52161623 52161623 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181501.1 +1 reviewed p.R199I 0.614 119 0% 58 41.4% 6 0% benign(0.031) deleterious(0.04) neutral(0.350) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF69318 ITGA2 3673 genome.wustl.edu 37 5 52351367 52351367 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002203.3 +1 reviewed e8-1 1.000 88 0% 21 42.9% 0 - - - - - ITGA2 3673 genome.wustl.edu 37 5 52351403 52351403 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002203.3 +1 reviewed p.R272Q 0.371 123 0% 25 52% 0 - benign(0.141) tolerated(0.34) neutral(0.035) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain ITGA2 3673 genome.wustl.edu 37 5 52355822 52355822 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002203.3 +1 reviewed p.R431I 1.000 156 0% 21 28.6% 0 - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) superfamily_Integrin alpha N-terminal domain ITGA2 3673 genome.wustl.edu 37 5 52369005 52369005 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002203.3 +1 reviewed p.L829 1.000 186 0% 41 36.6% 0 - - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains ITGA2 3673 genome.wustl.edu 37 5 52377428 52377428 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002203.3 +1 reviewed p.D1016Y 1.000 287 0.3% 69 50.7% 1 100% possibly_damaging(0.918) tolerated(0.08) deleterious(0.668) HMMPfam_Integrin_alpha2,superfamily_Integrin domains FST 10468 genome.wustl.edu 37 5 52781787 52781787 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013409.1 +1 reviewed p.S320L 0.998 95 0% 82 45.1% 0 - benign(0.002) deleterious(0.03) neutral(0.364) NULL NDUFS4 4724 genome.wustl.edu 37 5 52856535 52856535 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002495.2 +1 reviewed p.W15R 0.397 184 0% 38 36.8% 72 44.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GZMK 3003 genome.wustl.edu 37 5 54320574 54320574 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002104.2 +1 reviewed p.V51I 0.000 126 0% 39 38.5% 2 0% benign(0) tolerated(1) - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases GZMA 3001 genome.wustl.edu 37 5 54403644 54403644 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006144.3 +1 reviewed p.L80I 1.000 214 0% 97 40.2% 9 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases GZMA 3001 genome.wustl.edu 37 5 54404199 54404199 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006144.3 +1 reviewed p.R202* 0.000 96 0% 40 55% 10 0% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases DHX29 54505 genome.wustl.edu 37 5 54557225 54557225 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019030.2 -1 validated p.L1311I 1.000 67 0% 62 41.9% 42 33.3% benign(0.014) tolerated(1) neutral(0.001) NULL DHX29 54505 genome.wustl.edu 37 5 54570457 54570457 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019030.2 -1 validated p.R892I 1.000 41 0% 59 66.1% 18 88.8% probably_damaging(0.976) tolerated(0.07) deleterious(0.737) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 DHX29 54505 genome.wustl.edu 37 5 54579354 54579354 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019030.2 -1 validated p.P548S 0.998 194 0% 144 45.8% 17 35.2% benign(0.047) tolerated(1) neutral(0.003) superfamily_SSF52540 SKIV2L2 23517 genome.wustl.edu 37 5 54642883 54642883 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015360.4 +1 validated p.R384I 1.000 107 0% 105 35.2% 17 41.1% probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_SSF52540 SKIV2L2 23517 genome.wustl.edu 37 5 54674149 54674149 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015360.4 +1 validated p.K606N 1.000 50 0% 61 42.6% 23 52.1% benign(0) tolerated(0.42) neutral(0.014) NULL PPAP2A 8611 genome.wustl.edu 37 5 54763889 54763889 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176895.1 -1 reviewed p.K101T 1.000 201 0% 109 45.9% 27 25.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase DDX4 54514 genome.wustl.edu 37 5 55034777 55034777 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024415.2 +1 validated e1-1 0.073 89 0% 184 40.2% 0 - - - - - DDX4 54514 genome.wustl.edu 37 5 55083779 55083779 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024415.2 +1 validated p.R375* 1.000 211 0% 91 39.6% 0 - - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX4 54514 genome.wustl.edu 37 5 55086459 55086459 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024415.2 +1 validated p.R410* 1.000 292 0% 166 43.4% 0 - - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases IL31RA 133396 genome.wustl.edu 37 5 55212563 55212563 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139017.4 +1 validated p.I637S 1.000 124 0% 117 53.8% 0 - possibly_damaging(0.811) deleterious(0) deleterious(0.750) NULL MAP3K1 4214 genome.wustl.edu 37 5 56170989 56170989 + Missense_Mutation SNP C C A rs56095529 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005921.1 +1 validated p.S606Y 0.979 176 0% 33 57.6% 7 57.1% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MAP3K1 4214 genome.wustl.edu 37 5 56178423 56178423 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005921.1 +1 validated p.I1132M 0.831 139 0% 45 44.4% 15 46.6% benign(0.001) tolerated(0.27) neutral(0.034) NULL SETD9 133383 genome.wustl.edu 37 5 56207237 56207237 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153706.3 +1 validated p.E114* 1.000 120 0% 122 41.8% 1 0% - - - NULL PLK2 10769 genome.wustl.edu 37 5 57752839 57752839 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006622.2 -1 validated p.F363L 1.000 48 0% 92 20.7% 18 5.5% unknown(0) deleterious(0) - superfamily_Kinase_like PDE4D 5144 genome.wustl.edu 37 5 58289203 58289203 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001104631.1 -1 validated p.F337L 1.000 109 0% 46 34.8% 0 - possibly_damaging(0.81) deleterious(0.01) deleterious(0.711) NULL PDE4D 5144 genome.wustl.edu 37 5 58511670 58511670 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001104631.1 -1 validated p.R194* 1.000 96 0% 17 23.5% 1 100% - - - NULL ZSWIM6 57688 genome.wustl.edu 37 5 60768589 60768589 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020928.1 +1 provisional p.D253A 1.000 261 0% 43 34.9% 3 33.3% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_SWIM KIF2A 3796 genome.wustl.edu 37 5 61649145 61649145 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098511.1 +1 validated p.Q167H 1.000 59 0% 107 24.3% 28 42.8% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL LRRC70 100130733 genome.wustl.edu 37 5 61876140 61876140 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181506.4 +1 validated p.N292I 1.000 50 0% 21 38.1% 0 - probably_damaging(0.991) tolerated(0.12) deleterious(0.705) HMMPfam_LRR_1,superfamily_SSF52058 RNF180 285671 genome.wustl.edu 37 5 63626135 63626135 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113561.1 +1 validated p.F494S 1.000 103 0% 132 34.1% 2 50% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_RING/U-box RGS7BP 401190 genome.wustl.edu 37 5 63894202 63894202 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029875.1 +1 provisional p.E208* 1.000 125 0% 50 48% 0 - - - - NULL ADAMTS6 11174 genome.wustl.edu 37 5 64520823 64520823 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_197941.2 -1 reviewed p.R707* 1.000 174 0% 46 45.7% 0 - - - - NULL ADAMTS6 11174 genome.wustl.edu 37 5 64748743 64748743 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_197941.2 -1 reviewed p.F212V 1.000 220 0% 79 43% 2 0% benign(0) tolerated(0.5) neutral(0.010) NULL PPWD1 23398 genome.wustl.edu 37 5 64872843 64872843 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015342.2 +1 validated p.F369 0.988 208 0% 110 40% 11 45.4% - - - superfamily_WD40_like TRIM23 373 genome.wustl.edu 37 5 64905164 64905164 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001656.3 -1 reviewed p.K317T 1.000 276 0.4% 64 40.6% 14 28.5% benign(0.039) deleterious(0) neutral(0.447) HMMSmart_SM00502 SGTB 54557 genome.wustl.edu 37 5 64976532 64976532 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019072.2 -1 validated p.K190T 1.000 428 0% 281 43.4% 1 0% possibly_damaging(0.829) deleterious(0.01) deleterious(0.720) superfamily_SSF48452 NLN 57486 genome.wustl.edu 37 5 65073308 65073308 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020726.3 +1 provisional p.S169P 1.000 119 0% 76 46.1% 23 78.2% possibly_damaging(0.797) tolerated(0.27) neutral(0.333) superfamily_SSF55486 ERBB2IP 55914 genome.wustl.edu 37 5 65334238 65334238 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018695.2 +1 reviewed p.E412* 1.000 145 0.7% 70 41.4% 11 18.1% - - - superfamily_SSF52058 ERBB2IP 55914 genome.wustl.edu 37 5 65350337 65350337 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018695.2 +1 reviewed p.R1064Q 1.000 280 0% 65 41.5% 28 57.1% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL SREK1 140890 genome.wustl.edu 37 5 65460688 65460688 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077199.1 +1 validated p.S322A 1.000 174 0% 96 46.9% 31 51.6% unknown(0) tolerated(0.18) - superfamily_SSF54928 MAST4 375449 genome.wustl.edu 37 5 66426063 66426063 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015183.2 +1 validated p.E402* 1.000 129 0% 41 41.5% 2 50% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CD180 4064 genome.wustl.edu 37 5 66479672 66479672 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005582.2 -1 validated p.F333 0.165 129 0% 65 52.3% 2 50% - - - superfamily_L domain-like CD180 4064 genome.wustl.edu 37 5 66481815 66481815 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005582.2 -1 validated p.N41H 0.998 146 0% 153 42.5% 1 100% benign(0.006) tolerated(0.06) neutral(0.323) superfamily_L domain-like PIK3R1 5295 genome.wustl.edu 37 5 67588951 67588951 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181523.1 +1 reviewed p.R348* 1.000 105 0% 83 45.8% 56 64.2% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PIK3R1 5295 genome.wustl.edu 37 5 67589618 67589618 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181523.1 +1 reviewed p.R461* 0.484 30 0% 81 40.7% 37 10.8% - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67590426 67590426 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181523.1 +1 reviewed p.E496 1.000 91 0% 67 47.8% 49 34.6% - - - NULL MRPS36 92259 genome.wustl.edu 37 5 68524152 68524152 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033281.5 +1 validated p.K78Q 1.000 151 0% 145 44.1% 66 42.4% possibly_damaging(0.951) deleterious(0) deleterious(0.839) NULL CDK7 1022 genome.wustl.edu 37 5 68551312 68551312 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001799.3 +1 validated p.S85Y 1.000 56 0% 158 42.4% 25 52% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RAD17 5884 genome.wustl.edu 37 5 68669760 68669760 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133339.1 +1 reviewed p.R49I 1.000 80 0% 115 47% 12 66.6% possibly_damaging(0.843) tolerated(0.06) deleterious(0.645) NULL MARVELD2 153562 genome.wustl.edu 37 5 68736287 68736287 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001038603.2 +1 validated p.R505I 1.000 49 0% 128 44.5% 13 53.8% possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMPfam_Occludin_ELL OCLN 100506658 genome.wustl.edu 37 5 70378639 70378639 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000515515 -1 known p.G84 0.999 75 0% 43 90.7% 3 0% - - - NULL BDP1 55814 genome.wustl.edu 37 5 70798550 70798550 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018429.2 +1 reviewed p.L725I 0.000 110 0% 103 42.7% 3 66.6% benign(0.099) tolerated(0.17) neutral(0.067) NULL BDP1 55814 genome.wustl.edu 37 5 70808146 70808146 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018429.2 +1 reviewed p.H1380N 0.002 58 0% 68 41.2% 0 - benign(0.016) deleterious(0) neutral(0.445) NULL BDP1 55814 genome.wustl.edu 37 5 70845256 70845256 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018429.2 +1 reviewed p.V2273G 0.264 61 0% 161 45.3% 6 83.3% probably_damaging(0.996) tolerated(0.06) deleterious(0.784) NULL MAP1B 4131 genome.wustl.edu 37 5 71490492 71490492 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005909.3 +1 validated p.F437C 1.000 270 0% 99 44.4% 6 66.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL MAP1B 4131 genome.wustl.edu 37 5 71491402 71491402 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005909.3 +1 validated p.K740N 1.000 58 0% 76 39.5% 10 30% unknown(0) tolerated(0.36) - NULL FCHO2 115548 genome.wustl.edu 37 5 72333014 72333014 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138782.2 +1 validated p.I296V 1.000 37 0% 106 42.5% 6 66.6% benign(0.002) tolerated(0.34) neutral(0.023) NULL TMEM171 134285 genome.wustl.edu 37 5 72427423 72427423 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173490.6 +1 validated p.I281L 0.999 232 0% 119 46.2% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL RGNEF 64283 genome.wustl.edu 37 5 73163704 73163704 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080479.2 +1 reviewed p.S719Y 0.980 222 0% 69 43.5% 5 20% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL RGNEF 64283 genome.wustl.edu 37 5 73181688 73181688 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080479.2 +1 reviewed p.E1023 1.000 83 0% 58 48.3% 8 37.5% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) HEXB 3074 genome.wustl.edu 37 5 73992830 73992830 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000521.3 +1 reviewed p.N190D 1.000 183 0% 200 39.5% 64 42.1% benign(0.262) deleterious(0.01) neutral(0.433) HMMPfam_Glyco_hydro_20b,superfamily_beta-N-acetylhexosaminidase-like domain GFM2 84340 genome.wustl.edu 37 5 74043556 74043556 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032380.3 -1 reviewed p.R190Q 1.000 220 0% 113 42.5% 11 72.7% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD31 256006 genome.wustl.edu 37 5 74387115 74387115 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000274361 -1 known p.Y1758H 0.037 170 0% 65 15.4% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL ANKRD31 256006 genome.wustl.edu 37 5 74442447 74442447 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000274361 -1 known p.F930C 0.000 37 0% 12 58.3% 0 - possibly_damaging(0.915) - - superfamily_ANK POC5 134359 genome.wustl.edu 37 5 74988260 74988260 + Missense_Mutation SNP G G T rs146386463 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099271.1 -1 validated p.F252L 1.000 142 0% 63 49.2% 26 46.1% possibly_damaging(0.94) tolerated(0.06) deleterious(0.708) NULL POC5 134359 genome.wustl.edu 37 5 75008207 75008207 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152408.2 -1 validated p.M1I 0.000 110 0% 98 39.8% 0 - benign(0.006) - - NULL WDR41 55255 genome.wustl.edu 37 5 76732214 76732214 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018268.2 -1 validated p.F367V 1.000 303 0% 117 45.3% 44 61.3% possibly_damaging(0.87) deleterious(0) deleterious(0.782) superfamily_WD40_like AP3B1 8546 genome.wustl.edu 37 5 77316567 77316567 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003664.3 -1 reviewed p.E981* 1.000 168 0% 93 36.6% 37 10.8% - - - NULL AP3B1 8546 genome.wustl.edu 37 5 77423877 77423877 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003664.3 -1 reviewed p.R649* 0.996 123 0% 30 50% 22 4.5% - - - NULL AP3B1 8546 genome.wustl.edu 37 5 77452157 77452157 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003664.3 -1 reviewed p.K466N 1.000 149 0% 121 40.5% 18 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Adaptin_N,superfamily_ARM repeat DMGDH 29958 genome.wustl.edu 37 5 78322308 78322308 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013391.2 -1 reviewed p.F710C 1.000 124 0% 51 39.2% 1 0% possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) HMMPfam_GCV_T,superfamily_Aminomethyltransferase folate-binding domain JMY 133746 genome.wustl.edu 37 5 78586054 78586054 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152405.4 +1 validated p.L439 0.962 120 0% 77 48.1% 6 33.3% - - - NULL JMY 133746 genome.wustl.edu 37 5 78610533 78610533 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152405.4 +1 validated p.D840N 0.062 13 0.000 9 0.556 3 33.3% benign(0.009) tolerated(0.75) neutral(0.002) NULL HOMER1 9456 genome.wustl.edu 37 5 78752720 78752720 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004272.3 -1 validated p.N43H 1.000 159 0% 81 50.6% 13 30.7% unknown(0) tolerated(0.06) - HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like CMYA5 202333 genome.wustl.edu 37 5 79025046 79025046 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153610.3 +1 validated p.R153I 0.765 288 0% 83 39.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CMYA5 202333 genome.wustl.edu 37 5 79025319 79025319 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153610.3 +1 validated p.F244C 0.997 98 0% 25 32% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CMYA5 202333 genome.wustl.edu 37 5 79027035 79027035 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153610.3 +1 validated p.I816S 0.003 162 0% 24 45.8% 0 - benign(0.271) deleterious(0.01) neutral(0.435) NULL CMYA5 202333 genome.wustl.edu 37 5 79028075 79028075 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153610.3 +1 validated p.E1163* 0.257 118 0.8% 23 47.8% 0 - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79032923 79032923 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153610.3 +1 validated p.K2779E 0.183 249 0% 54 40.7% 0 - benign(0.039) tolerated(0.05) neutral(0.347) NULL SPZ1 84654 genome.wustl.edu 37 5 79617200 79617200 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032567.3 +1 validated p.K389R 0.000 28 0% 56 48.2% 0 - possibly_damaging(0.555) tolerated(0.36) neutral(0.209) NULL ZFYVE16 9765 genome.wustl.edu 37 5 79743945 79743945 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105251.1 +1 validated p.S942Y 0.982 159 0% 105 43.8% 7 28.5% possibly_damaging(0.806) deleterious(0.03) deleterious(0.668) NULL ZFYVE16 9765 genome.wustl.edu 37 5 79746309 79746309 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105251.1 +1 validated p.E1096K 1.000 142 0% 103 30.1% 8 37.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DHFR 1719 genome.wustl.edu 37 5 79924971 79924971 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000791.3 -1 reviewed p.L167I 0.131 64 0% 100 42% 26 46.1% benign(0.003) tolerated(0.05) neutral(0.345) HMMPfam_DHFR_1,superfamily_Dihydrofolate reductases DHFR 1719 genome.wustl.edu 37 5 79924972 79924972 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000511032 -1 known p.S128A 0.134 62 0% 101 46.5% 26 38.4% unknown(0) - - NULL MSH3 4437 genome.wustl.edu 37 5 80063801 80063801 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002439.3 +1 reviewed p.K649T 0.443 115 0% 98 18.4% 8 0% benign(0.097) tolerated(0.3) neutral(0.036) HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III CKMT2 1160 genome.wustl.edu 37 5 80550220 80550220 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099735.1 +1 reviewed p.F119 1.000 120 0% 85 37.6% 4 0% - - - HMMPfam_ATP-gua_PtransN,superfamily_ATP-gua_Ptrans ACOT12 134526 genome.wustl.edu 37 5 80655779 80655779 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130767.2 -1 validated p.R147* 0.994 240 0% 218 45.4% 0 - - - - NULL VCAN 1462 genome.wustl.edu 37 5 82815255 82815255 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004385.4 +1 reviewed p.R377K 0.948 126 0% 68 45.6% 0 - benign(0.024) tolerated(0.23) neutral(0.043) NULL VCAN 1462 genome.wustl.edu 37 5 82817945 82817945 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004385.4 +1 reviewed p.D1274N 0.995 110 0% 38 50% 3 0% probably_damaging(0.987) deleterious(0.03) deleterious(0.801) NULL VCAN 1462 genome.wustl.edu 37 5 82875883 82875883 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004385.4 +1 reviewed p.R3322I 1.000 144 0% 38 36.8% 23 43.4% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain HAPLN1 1404 genome.wustl.edu 37 5 82940305 82940305 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001884.3 -1 validated p.P218T 1.000 32 0% 28 28.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like EDIL3 10085 genome.wustl.edu 37 5 83259122 83259122 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005711.3 -1 reviewed p.F399V 1.000 230 0% 35 60% 2 0% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like RASA1 5921 genome.wustl.edu 37 5 86649000 86649000 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002890.1 +1 reviewed p.R427Q 1.000 94 0% 26 46.2% 12 66.6% possibly_damaging(0.938) tolerated(0.08) deleterious(0.683) HMMSmart_SM00252,superfamily_SH2 domain CETN3 1070 genome.wustl.edu 37 5 89695217 89695217 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004365.2 -1 reviewed p.R140* 1.000 468 0% 125 45.6% 49 36.7% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 LYSMD3 116068 genome.wustl.edu 37 5 89814746 89814746 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198273.1 -1 validated p.E271* 1.000 194 0% 107 52.3% 8 25% - - - NULL LYSMD3 116068 genome.wustl.edu 37 5 89815201 89815201 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198273.1 -1 validated p.E119G 1.000 137 0% 78 43.6% 8 75% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL GPR98 84059 genome.wustl.edu 37 5 89971991 89971991 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032119.3 +1 reviewed p.S1803Y 1.000 78 0% 51 43.1% 0 - possibly_damaging(0.942) tolerated(0.38) neutral(0.405) HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90055241 90055241 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032119.3 +1 reviewed p.E3986* 1.000 507 0% 204 48% 1 100% - - - HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90449037 90449037 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032119.3 +1 reviewed e89-1 1.000 89 1.1% 53 47.2% 5 80% - - - - KIAA0825 285600 genome.wustl.edu 37 5 93739298 93739298 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145678.1 -1 validated p.T955A 0.967 138 0% 76 36.8% 0 - benign(0.026) tolerated(0.09) neutral(0.297) NULL KIAA0825 285600 genome.wustl.edu 37 5 93809006 93809006 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145678.1 -1 validated p.K482N 1.000 302 0% 222 43.2% 0 - possibly_damaging(0.926) tolerated(0.16) neutral(0.434) NULL KIAA0825 285600 genome.wustl.edu 37 5 93856291 93856291 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145678.1 -1 validated p.K211T 0.968 221 0% 146 47.3% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL MCTP1 79772 genome.wustl.edu 37 5 94043253 94043253 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024717.4 -1 validated p.K983R 1.000 383 0% 56 35.7% 0 - probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL MCTP1 79772 genome.wustl.edu 37 5 94206163 94206163 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024717.4 -1 validated p.E759* 1.000 303 0% 118 41.5% 0 - - - - NULL FAM81B 153643 genome.wustl.edu 37 5 94756012 94756012 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152548.2 +1 validated p.R188* 0.939 72 0% 58 41.4% 1 0% - - - NULL FAM81B 153643 genome.wustl.edu 37 5 94782336 94782336 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152548.2 +1 validated p.L322I 0.009 28 0% 22 45.5% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL TTC37 9652 genome.wustl.edu 37 5 94852694 94852694 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014639.2 -1 provisional p.R788C 1.000 175 0% 29 65.5% 15 86.6% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) superfamily_Prenyl_trans TTC37 9652 genome.wustl.edu 37 5 94876477 94876477 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014639.2 -1 provisional p.E154* 0.002 354 0% 84 33.3% 11 0% - - - superfamily_SSF48452 ELL2 22936 genome.wustl.edu 37 5 95234288 95234288 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012081.5 -1 validated p.S394Y 1.000 76 0% 124 41.1% 1 0% unknown(0) deleterious(0.04) - NULL PCSK1 5122 genome.wustl.edu 37 5 95728867 95728867 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000439.4 -1 reviewed p.F700L 0.998 227 0% 124 46% 1 0% benign(0) tolerated(0.84) neutral(0.001) NULL CAST 831 genome.wustl.edu 37 5 96073590 96073590 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001750.5 +1 reviewed p.T246N 0.998 305 0% 90 42.2% 20 10% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_Calpain_inhib LNPEP 4012 genome.wustl.edu 37 5 96363494 96363494 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005575.2 +1 reviewed p.F974L 1.000 234 0% 139 46% 11 45.4% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL CHD1 1105 genome.wustl.edu 37 5 98208173 98208173 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001270.2 -1 reviewed p.E1220* 1.000 81 0% 76 88.2% 7 85.7% - - - superfamily_Homeodomain-like CHD1 1105 genome.wustl.edu 37 5 98235283 98235283 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001270.2 -1 reviewed p.H329R 1.000 133 0% 190 48.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases SLCO4C1 353189 genome.wustl.edu 37 5 101597620 101597620 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_180991.4 -1 validated p.L339 0.997 128 0% 40 35% 0 - - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter PAM 5066 genome.wustl.edu 37 5 102296861 102296861 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000919.3 +1 reviewed e13-1 1.000 110 0% 47 38.3% 0 - - - - - PAM 5066 genome.wustl.edu 37 5 102309950 102309950 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000919.3 +1 reviewed p.Q431H 0.969 214 0% 36 47.2% 53 43.3% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL PPIP5K2 23262 genome.wustl.edu 37 5 102537303 102537303 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015216.2 +1 provisional p.E1213* 0.960 127 0% 80 13.8% 18 11.1% - - - NULL NUDT12 83594 genome.wustl.edu 37 5 102890452 102890452 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031438.2 -1 validated p.F356C 1.000 81 0% 16 50% 6 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_NUDIX,superfamily_Nudix,PatternScan_NUDIX EFNA5 1946 genome.wustl.edu 37 5 107006303 107006303 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001962.2 -1 reviewed p.V4 1.000 43 0% 38 55.3% 6 83.3% - - - NULL FER 2241 genome.wustl.edu 37 5 108171491 108171491 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005246.2 +1 reviewed p.K155T 1.000 65 0% 69 40.6% 0 - probably_damaging(0.96) deleterious(0.02) deleterious(0.786) NULL FER 2241 genome.wustl.edu 37 5 108203514 108203514 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005246.2 +1 reviewed p.M176I 1.000 141 0% 36 44.4% 3 66.6% - - - NULL FER 2241 genome.wustl.edu 37 5 108380480 108380480 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005246.2 +1 reviewed p.F605L 1.000 123 0% 89 42.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) WDR36 134430 genome.wustl.edu 37 5 110446590 110446590 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139281.2 +1 reviewed p.K571N 0.990 68 0% 16 37.5% 6 66.6% possibly_damaging(0.94) tolerated(0.24) neutral(0.422) superfamily_WD40_like CAMK4 814 genome.wustl.edu 37 5 110712565 110712565 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001744.3 +1 reviewed p.L104R 1.000 95 0% 25 32% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase EPB41L4A 64097 genome.wustl.edu 37 5 111754691 111754691 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022140.3 -1 validated p.L16V 1.000 85 0% 63 36.5% 3 33.3% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_FERM_N,HMMSmart_SM00295,superfamily_Ubiquitin-like APC 324 genome.wustl.edu 37 5 112177049 112177049 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000038.4 +1 reviewed p.R1920* 0.823 330 0.3% 131 37.4% 7 28.5% - - - NULL APC 324 genome.wustl.edu 37 5 112177793 112177793 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000038.4 +1 reviewed p.L2168I 1.000 38 0% 39 61.5% 9 44.4% benign(0.001) deleterious(0.05) neutral(0.345) NULL DCP2 167227 genome.wustl.edu 37 5 112346470 112346470 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000513585 +1 known p.S337A 0.993 198 0% 249 47.4% 9 55.5% - - - NULL TSSK1B 83942 genome.wustl.edu 37 5 112769636 112769636 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032028.3 -1 validated p.E301K 0.590 146 0% 47 36.2% 0 - benign(0.002) tolerated(0.18) neutral(0.056) superfamily_Protein kinase-like (PK-like) TSSK1B 83942 genome.wustl.edu 37 5 112769886 112769886 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032028.3 -1 validated p.D217 0.589 132 0% 35 48.6% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase YTHDC2 64848 genome.wustl.edu 37 5 112862360 112862360 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022828.3 +1 validated p.E185K 1.000 83 0% 50 30% 2 0% benign(0) tolerated(0.43) neutral(0.013) NULL YTHDC2 64848 genome.wustl.edu 37 5 112874845 112874845 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022828.3 +1 validated p.E393* 1.000 17 0% 66 37.9% 6 33.3% - - - NULL YTHDC2 64848 genome.wustl.edu 37 5 112902844 112902844 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022828.3 +1 validated p.E966D 1.000 653 0% 79 10.1% 9 0% possibly_damaging(0.861) tolerated(0.5) neutral(0.343) HMMPfam_DUF1605 YTHDC2 64848 genome.wustl.edu 37 5 112917346 112917346 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022828.3 +1 validated p.N1196T 1.000 78 0% 25 56% 8 12.5% benign(0) tolerated(0.39) neutral(0.016) NULL TRIM36 55521 genome.wustl.edu 37 5 114462356 114462356 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018700.3 -1 reviewed p.V677 0.051 304 0% 198 43.4% 8 87.5% - - - NULL TRIM36 55521 genome.wustl.edu 37 5 114473237 114473237 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018700.3 -1 reviewed p.S315* 1.000 209 0% 146 46.6% 6 0% - - - NULL TRIM36 55521 genome.wustl.edu 37 5 114499237 114499237 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018700.3 -1 reviewed p.K92N 1.000 141 0% 135 45.2% 4 25% possibly_damaging(0.663) deleterious(0.01) deleterious(0.640) HMMSmart_SM00184,superfamily_RING/U-box TICAM2 353376 genome.wustl.edu 37 5 114916621 114916621 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021649.5 -1 validated p.I111 1.000 169 0.6% 104 49% 6 0% - - - superfamily_TIR CDO1 1036 genome.wustl.edu 37 5 115151936 115151936 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001801.2 -1 validated p.F53 1.000 152 0% 24 54.2% 0 - - - - HMMPfam_CDO_I,superfamily_RmlC-like cupins AQPEP 206338 genome.wustl.edu 37 5 115361747 115361747 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173800.4 +1 validated p.K969Q 0.953 148 0% 40 22.5% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SEMA6A 57556 genome.wustl.edu 37 5 115783188 115783188 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000515129 -1 known p.R253Q 0.986 124 0% 43 46.5% 4 100% - - - NULL SEMA6A 57556 genome.wustl.edu 37 5 115815880 115815880 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020796.3 -1 validated p.P396 0.001 162 0% 28 28.6% 1 100% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6A 57556 genome.wustl.edu 37 5 115818196 115818196 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020796.3 -1 validated p.Q346 1.000 117 0% 28 67.9% 2 0% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6A 57556 genome.wustl.edu 37 5 115831156 115831156 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020796.3 -1 validated p.F133L 1.000 214 0% 103 42.7% 1 100% probably_damaging(0.998) tolerated(0.25) deleterious(0.511) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain DMXL1 1657 genome.wustl.edu 37 5 118451959 118451959 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005509.4 +1 validated p.S224Y 1.000 103 0% 142 40.1% 18 22.2% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DMXL1 1657 genome.wustl.edu 37 5 118506828 118506828 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005509.4 +1 validated p.E2114D 0.997 121 0% 67 46.3% 7 42.8% benign(0.011) tolerated(0.13) neutral(0.253) NULL HSD17B4 3295 genome.wustl.edu 37 5 118835117 118835117 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000414.2 +1 reviewed p.D360Y 0.908 140 0% 56 44.6% 53 43.3% benign(0.405) deleterious(0.01) deleterious(0.536) superfamily_SSF54637 HSD17B4 3295 genome.wustl.edu 37 5 118872202 118872202 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000414.2 +1 reviewed p.E693A 1.000 217 0% 24 33.3% 178 43.2% benign(0.031) tolerated(0.4) neutral(0.018) HMMPfam_SCP2,superfamily_SCP2 LOX 4015 genome.wustl.edu 37 5 121411168 121411168 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002317.5 -1 reviewed p.K270R 1.000 194 0% 124 46.8% 42 33.3% benign(0.176) tolerated(0.15) neutral(0.257) HMMPfam_Lysyl_oxidase SNCAIP 9627 genome.wustl.edu 37 5 121739487 121739487 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005460.2 +1 reviewed e2-1 1.000 443 0% 86 9.3% 0 - - - - - SNCAIP 9627 genome.wustl.edu 37 5 121761156 121761156 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005460.2 +1 reviewed p.S371Y 0.999 68 0% 31 38.7% 5 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_ANK,superfamily_ANK SNCAIP 9627 genome.wustl.edu 37 5 121787135 121787135 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005460.2 +1 reviewed p.R865* 0.990 98 0% 36 47.2% 3 0% - - - NULL PRDM6 93166 genome.wustl.edu 37 5 122516014 122516014 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136239.1 +1 validated p.F557S 1.000 194 0% 71 47.9% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CSNK1G3 1456 genome.wustl.edu 37 5 122940461 122940461 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001044723.1 +1 validated p.T409N 1.000 121 0% 23 34.8% 26 46.1% possibly_damaging(0.95) tolerated(0.1) deleterious(0.680) NULL ZNF608 57507 genome.wustl.edu 37 5 123983585 123983585 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020747.2 -1 validated p.K831R 1.000 148 0% 105 45.7% 3 66.6% probably_damaging(0.971) tolerated(0.65) neutral(0.416) NULL GRAMD3 65983 genome.wustl.edu 37 5 125819171 125819171 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023927.2 +1 validated p.F251C 1.000 304 0% 104 43.3% 10 80% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ALDH7A1 501 genome.wustl.edu 37 5 125885920 125885920 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001182.3 -1 reviewed p.T461 1.000 165 0% 136 39% 108 53.7% - - - HMMPfam_Aldedh,superfamily_ALDH-like LMNB1 4001 genome.wustl.edu 37 5 126141372 126141372 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005573.2 +1 reviewed p.K209T 1.000 189 0% 214 43.9% 264 48.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament MEGF10 84466 genome.wustl.edu 37 5 126746240 126746240 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032446.2 +1 validated p.L359 0.305 125 0% 39 41% 0 - - - - HMMSmart_SM00180,superfamily_EGF/Laminin MEGF10 84466 genome.wustl.edu 37 5 126753401 126753401 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032446.2 +1 validated p.S401Y 1.000 260 0% 46 43.5% 0 - benign(0.313) deleterious(0) deleterious(0.542) HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin MEGF10 84466 genome.wustl.edu 37 5 126774147 126774147 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032446.2 +1 validated p.H707 1.000 66 0% 22 45.5% 0 - - - - superfamily_EGF/Laminin CTXN3 613212 genome.wustl.edu 37 5 126993333 126993333 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001048252.2 +1 validated p.F40L 1.000 194 0.5% 51 21.6% 0 - benign(0.219) tolerated(0.15) neutral(0.263) NULL FBN2 2201 genome.wustl.edu 37 5 127597531 127597531 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001999.3 -1 reviewed p.E2754G 0.999 362 0% 92 43.5% 84 44% benign(0.291) deleterious(0.02) deleterious(0.473) NULL FBN2 2201 genome.wustl.edu 37 5 127626514 127626514 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001999.3 -1 reviewed p.F2119V 1.000 212 0% 60 53.3% 23 34.7% benign(0.114) tolerated(0.5) neutral(0.019) HMMPfam_TB,superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases FBN2 2201 genome.wustl.edu 37 5 127641568 127641568 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001999.3 -1 reviewed p.R1832H 1.000 142 0% 47 38.3% 27 51.8% probably_damaging(0.976) tolerated(0.08) deleterious(0.718) PatternScan_ASX_HYDROXYL,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 127674667 127674667 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001999.3 -1 reviewed p.E1144K 1.000 112 0% 46 45.7% 21 33.3% benign(0.03) tolerated(0.11) neutral(0.273) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,superfamily_EGF/Laminin SLC27A6 28965 genome.wustl.edu 37 5 128365290 128365290 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017372.1 +1 reviewed p.M525L 1.000 137 0% 36 52.8% 3 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_SSF56801 ISOC1 51015 genome.wustl.edu 37 5 128448558 128448558 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016048.2 +1 validated p.R254Q 1.000 181 0% 20 30% 67 53.7% benign(0.067) tolerated(0.71) neutral(0.006) HMMPfam_Isochorismatase,superfamily_Iscrsm_hydrolase CHSY3 337876 genome.wustl.edu 37 5 129520174 129520174 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175856.4 +1 validated p.G447R 1.000 85 0% 27 37% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_CHGN RAPGEF6 51735 genome.wustl.edu 37 5 130797632 130797632 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016340.5 -1 validated p.R877H 1.000 137 0% 94 50% 1 100% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF RAPGEF6 51735 genome.wustl.edu 37 5 130841146 130841146 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016340.5 -1 validated p.L338 1.000 208 0% 155 38.1% 1 100% - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like FNIP1 96459 genome.wustl.edu 37 5 131013480 131013480 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133372.2 -1 validated p.K479Q 1.000 124 0% 79 49.4% 7 57.1% benign(0.043) tolerated(0.15) neutral(0.243) NULL FNIP1 96459 genome.wustl.edu 37 5 131014836 131014836 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000513722 -1 known p.E206* 1.000 128 0% 64 35.9% 8 50% probably_damaging(0.997) tolerated(0.05) deleterious(0.811) NULL FNIP1 96459 genome.wustl.edu 37 5 131042209 131042209 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133372.2 -1 validated p.F270C 1.000 295 0% 61 41% 5 20% possibly_damaging(0.929) deleterious(0.03) deleterious(0.740) NULL ACSL6 23305 genome.wustl.edu 37 5 131298314 131298314 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009185.1 -1 validated p.E591K 1.000 206 0% 114 39.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_SSF56801 SLC22A5 6584 genome.wustl.edu 37 5 131719914 131719914 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003060.3 +1 reviewed p.K191N 0.010 351 0% 163 55.2% 7 57.1% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RAD50 10111 genome.wustl.edu 37 5 131953889 131953889 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005732.3 +1 reviewed p.R1098W 0.047 169 0% 175 40.6% 29 41.3% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF3A 11127 genome.wustl.edu 37 5 132052650 132052650 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007054.5 -1 validated p.E215K 1.000 176 0% 79 45.6% 5 40% benign(0.004) tolerated(0.42) neutral(0.014) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF3A 11127 genome.wustl.edu 37 5 132061829 132061829 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007054.5 -1 validated p.Q167 1.000 149 0% 124 48.4% 8 62.5% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases GDF9 2661 genome.wustl.edu 37 5 132197428 132197428 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005260.3 -1 reviewed p.I406 1.000 98 0% 61 36.1% 2 50% - - - HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 UQCRQ 27089 genome.wustl.edu 37 5 132203179 132203179 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014402.4 +1 reviewed e2-1 1.000 137 0% 346 41% 5 40% - - - - HSPA4 3308 genome.wustl.edu 37 5 132427048 132427048 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002154.3 +1 validated p.Q514 0.998 293 0% 165 50.3% 182 47.2% - - - HMMPfam_HSP70,superfamily_SSF100920 MIR1289-2 100302134 genome.wustl.edu 37 5 132763309 132763309 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000408360 -1 known NULL 0.000 143 0% 62 30.6% 0 - - - - - C5orf15 56951 genome.wustl.edu 37 5 133292564 133292564 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020199.2 -1 validated p.D262Y 1.000 92 0% 63 42.9% 48 43.7% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL C5orf15 56951 genome.wustl.edu 37 5 133292644 133292644 + Missense_Mutation SNP C C T rs187246788 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020199.2 -1 validated p.G235D 1.000 124 0% 80 48.7% 57 57.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SEC24A 10802 genome.wustl.edu 37 5 134050739 134050739 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021982.1 +1 validated p.A918V 0.999 75 0% 139 34.5% 17 58.8% benign(0) tolerated(0.49) neutral(0.011) HMMPfam_Sec23_helical,superfamily_Helical domain of Sec23/24 DDX46 9879 genome.wustl.edu 37 5 134117736 134117736 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014829.2 +1 reviewed p.F335L 0.995 63 0% 61 42.6% 41 39% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_SSF52540 PITX1 5307 genome.wustl.edu 37 5 134364975 134364975 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002653.4 -1 reviewed p.R147C 1.000 28 0% 14 50% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_HOX,superfamily_Homeodomain_like LOC153328 153328 genome.wustl.edu 37 5 135223762 135223762 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145282.4 +1 validated p.L155I 0.002 171 0% 68 47.1% 1 0% benign(0.001) tolerated(0.07) neutral(0.319) NULL FBXL21 26223 genome.wustl.edu 37 5 135277071 135277071 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012159.4 +1 validated p.R339Q 0.998 131 0% 91 40.7% 0 - probably_damaging(0.991) tolerated(0.15) deleterious(0.685) superfamily_RNI-like LECT2 3950 genome.wustl.edu 37 5 135283002 135283002 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000512872 -1 known p.Q74P 0.004 97 0% 104 45.2% 0 - - - - NULL TGFBI 7045 genome.wustl.edu 37 5 135383035 135383035 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000358.2 +1 reviewed p.D233N 1.000 107 0% 35 40% 41 19.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain TGFBI 7045 genome.wustl.edu 37 5 135390545 135390545 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000514554 +1 known p.S186* 1.000 199 0% 215 36.3% 33 12.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain TGFBI 7045 genome.wustl.edu 37 5 135390546 135390546 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000358.2 +1 reviewed p.R469H 1.000 197 0% 214 35% 33 12.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain TGFBI 7045 genome.wustl.edu 37 5 135396585 135396585 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000514554 +1 known p.W340R 0.998 84 0% 30 53.3% 83 25.3% - - - HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain SMAD5 4090 genome.wustl.edu 37 5 135489569 135489569 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000398807 +1 known p.K40N 1.000 309 0% 71 36.6% 13 46.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD MH1 domain TRPC7 57113 genome.wustl.edu 37 5 135561853 135561853 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000513104 -1 known p.L711I 1.000 179 0% 151 45.7% 0 - benign(0.006) tolerated(0.75) neutral(0.002) NULL SPOCK1 6695 genome.wustl.edu 37 5 136448205 136448205 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004598.3 -1 reviewed p.S131 0.684 127 0% 40 50% 2 0% - - - superfamily_SSF100895 FAM13B 51306 genome.wustl.edu 37 5 137289150 137289150 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016603.2 -1 validated p.R553* 1.000 370 0.5% 230 44.3% 13 7.6% - - - NULL FAM13B 51306 genome.wustl.edu 37 5 137342825 137342825 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016603.2 -1 validated p.L234 1.000 205 0% 267 47.6% 10 80% - - - NULL BRD8 10902 genome.wustl.edu 37 5 137492934 137492934 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006696.3 -1 reviewed p.R940H 1.000 191 0.5% 125 51.2% 93 46.2% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL KDM3B 51780 genome.wustl.edu 37 5 137762735 137762735 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016604.3 +1 validated p.R1495* 1.000 79 0% 53 41.5% 24 12.5% - - - superfamily_Clavaminate synthase-like REEP2 51308 genome.wustl.edu 37 5 137780137 137780137 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000512126 +1 known p.S110L 0.969 102 0% 92 35.9% 2 0% - - - HMMPfam_TB2_DP1_HVA22 HSPA9 3313 genome.wustl.edu 37 5 137893121 137893121 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000512328 -1 known p.E88* 1.000 330 0% 200 43.5% 319 45.1% benign(0.358) deleterious(0) deleterious(0.558) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain SIL1 64374 genome.wustl.edu 37 5 138362520 138362520 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037633.1 -1 reviewed p.A205 0.701 154 0% 64 48.4% 34 64.7% - - - superfamily_ARM-type_fold SIL1 64374 genome.wustl.edu 37 5 138362593 138362593 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037633.1 -1 reviewed p.D181G 1.000 185 0% 69 46.4% 69 36.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold PSD2 84249 genome.wustl.edu 37 5 139197112 139197112 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032289.2 +1 provisional p.D355N 1.000 71 0% 39 28.2% 1 100% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain SLC4A9 83697 genome.wustl.edu 37 5 139745523 139745523 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031467.2 +1 validated p.F605L 1.000 473 0% 367 41.7% 0 - benign(0.006) tolerated(1) - HMMPfam_HCO3_cotransp ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139876302 139876302 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020690.4 +1 reviewed p.D815Y 1.000 80 0% 56 41.1% 6 0% possibly_damaging(0.928) deleterious(0) deleterious(0.820) superfamily_ANK ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139887381 139887381 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020690.4 +1 reviewed p.K1188T 1.000 58 0% 43 44.2% 14 14.2% possibly_damaging(0.837) deleterious(0.01) deleterious(0.725) superfamily_ANK ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139917081 139917081 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020690.4 +1 reviewed p.G2379* 1.000 228 0% 59 45.8% 66 18.1% - - - NULL HARS2 23438 genome.wustl.edu 37 5 140075702 140075702 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012208.2 +1 reviewed p.R216 0.993 218 0% 206 46.1% 43 51.1% - - - HMMPfam_tRNA-synt_2b,superfamily_SSF55681 PCDHA1 56147 genome.wustl.edu 37 5 140166824 140166824 + Missense_Mutation SNP G G A rs143010606 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018900.2 +1 reviewed p.E317K 1.000 76 0% 104 43.3% 1 100% benign(0.008) tolerated(0.2) neutral(0.049) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA1 56147 genome.wustl.edu 37 5 140168275 140168275 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031410.1 +1 reviewed p.S800 0.939 57 0% 82 37.8% 0 - - - - NULL PCDHA3 56145 genome.wustl.edu 37 5 140181332 140181332 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018906.2 +1 reviewed p.R184G 0.296 62 0% 119 49.6% 1 0% benign(0.055) deleterious(0.03) neutral(0.368) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA3 56145 genome.wustl.edu 37 5 140181584 140181584 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018906.2 +1 reviewed p.D268N 1.000 57 0% 79 53.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140201910 140201910 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018908.2 +1 reviewed p.N184D 0.000 48 0% 132 48.5% 2 100% benign(0.005) tolerated(0.67) neutral(0.003) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140202322 140202322 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018908.2 +1 reviewed p.A321V 0.990 28 0% 59 39% 2 0% benign(0.077) deleterious(0.03) neutral(0.370) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140203133 140203133 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018908.2 +1 reviewed p.A591 0.622 44 0% 20 35% 2 0% - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140208418 140208418 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018909.2 +1 reviewed p.E248K 0.002 50 0% 98 43.9% 1 0% benign(0.002) tolerated(1) - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140221151 140221151 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018911.2 +1 reviewed p.G82D 1.000 74 0% 69 40.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140249397 140249397 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018902.3 +1 reviewed p.D237N 1.000 15 0% 50 42% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140250842 140250842 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018902.3 +1 reviewed p.T718 0.015 35 0% 33 42.4% 0 - - - - NULL PCDHA12 56137 genome.wustl.edu 37 5 140255883 140255883 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018903.2 +1 reviewed p.E276K 0.959 49 0% 106 49.1% 1 100% benign(0.022) tolerated(0.06) neutral(0.324) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140262717 140262717 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018904.2 +1 reviewed p.A288 0.000 84 0% 75 44% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140347791 140347791 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018899.5 +1 reviewed p.E480D 0.996 29 0% 30 53.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140348856 140348856 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018899.5 +1 reviewed p.Q835H 1.000 100 0% 83 39.8% 2 0% benign(0.146) tolerated(0.55) neutral(0.019) NULL PCDHB1 29930 genome.wustl.edu 37 5 140431959 140431959 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013340.2 +1 reviewed p.R302* 0.432 104 0% 69 79.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB1 29930 genome.wustl.edu 37 5 140432577 140432577 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013340.2 +1 reviewed p.N508H 1.000 103 0% 93 38.7% 0 - possibly_damaging(0.715) deleterious(0) deleterious(0.704) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB1 29930 genome.wustl.edu 37 5 140433224 140433224 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013340.2 +1 reviewed p.K723N 0.157 116 0% 167 45.5% 0 - possibly_damaging(0.919) tolerated(0.26) neutral(0.403) NULL PCDHB2 56133 genome.wustl.edu 37 5 140474938 140474938 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018936.2 +1 reviewed p.L188 0.000 58 0% 33 39.4% 47 51% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB5 26167 genome.wustl.edu 37 5 140515167 140515167 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015669.2 +1 reviewed p.D51Y 1.000 97 0% 56 55.4% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB5 26167 genome.wustl.edu 37 5 140516886 140516886 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015669.2 +1 reviewed p.R624C 0.999 33 0.000 9 0.667 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140530918 140530918 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018939.2 +1 reviewed p.E360D 0.001 195 0% 109 46.8% 1 0% benign(0.006) tolerated(0.43) neutral(0.013) HMMPfam_Cadherin,superfamily_Cadherin PCDHB7 56129 genome.wustl.edu 37 5 140553937 140553937 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018940.2 +1 reviewed p.N507 0.996 75 0% 46 47.8% 8 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB8 56128 genome.wustl.edu 37 5 140557961 140557961 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019120.2 +1 reviewed p.E116K 0.003 145 0% 240 15% 48 18.7% benign(0.002) tolerated(0.2) neutral(0.049) HMMSmart_CA,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140563321 140563321 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020957.1 +1 reviewed p.S396L 0.026 71 0% 78 42.3% 19 21% possibly_damaging(0.738) deleterious(0) deleterious(0.715) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140572768 140572768 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018930.3 +1 reviewed p.L215M 0.017 77 0% 80 46.3% 15 13.3% benign(0.138) tolerated(0.13) neutral(0.264) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140590773 140590773 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018932.3 +1 reviewed p.K765T 0.965 66 0% 114 46.5% 6 66.6% benign(0.229) tolerated(0.29) neutral(0.052) NULL PCDHB13 56123 genome.wustl.edu 37 5 140594777 140594777 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018933.2 +1 reviewed p.A361V 0.000 240 0% 122 43.4% 19 94.7% benign(0.01) deleterious(0.04) neutral(0.349) HMMPfam_Cadherin,superfamily_Cadherin PCDHB14 56122 genome.wustl.edu 37 5 140603450 140603450 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018934.2 +1 reviewed p.D125Y 0.999 61 0% 134 38.1% 9 88.8% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB14 56122 genome.wustl.edu 37 5 140604658 140604658 + Silent SNP C C T rs192565798 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018934.2 +1 reviewed p.F527 0.742 59 0% 22 54.5% 20 80% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB18 54660 genome.wustl.edu 37 5 140615462 140615462 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000274705 +1 known p.D393Y 1.000 65 0% 43 51.2% 1 0% - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB18 54660 genome.wustl.edu 37 5 140616346 140616346 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000274705 +1 known p.S687 0.011 96 0% 79 43% 0 - - - - NULL PCDHB15 56121 genome.wustl.edu 37 5 140625361 140625361 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018935.2 +1 reviewed p.E72G 0.000 39 0% 55 43.6% 0 - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Cadherin_2,superfamily_Cadherin PCDHGB1 56104 genome.wustl.edu 37 5 140730393 140730393 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018922.2 +1 reviewed p.P189Q 0.889 73 0% 97 40.2% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140744763 140744763 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018918.2 +1 reviewed p.S289L 0.000 20 0% 62 41.9% 0 - benign(0.002) tolerated(0.35) neutral(0.021) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140745113 140745113 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018918.2 +1 reviewed p.T406A 1.000 64 0% 101 42.6% 1 0% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140751091 140751091 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018924.2 +1 reviewed p.G377E 0.720 53 0% 106 44.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140752350 140752350 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018924.2 +1 reviewed p.P797T 0.003 68 0% 156 40.4% 0 - - - - NULL PCDHGB4 8641 genome.wustl.edu 37 5 140767506 140767506 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003736.2 +1 reviewed p.L19F 0.007 83 0% 65 30.8% 9 0% benign(0.104) tolerated(0.5) neutral(0.018) NULL PCDHGB4 8641 genome.wustl.edu 37 5 140767985 140767985 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003736.2 +1 reviewed p.F178L 0.305 76 0% 102 48% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140768139 140768139 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003736.2 +1 reviewed p.V230I 0.058 33 0% 46 39.1% 0 - benign(0.001) tolerated(0.78) neutral(0.001) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140768353 140768353 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003736.2 +1 reviewed p.V301G 0.000 54 0% 107 47.7% 0 - benign(0.025) deleterious(0) neutral(0.446) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140773919 140773919 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032088.1 +1 reviewed p.V513 0.542 66 0% 65 55.4% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140783359 140783359 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018921.2 +1 reviewed p.K280N 0.555 29 0% 92 46.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140784780 140784780 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018921.2 +1 reviewed p.S754Y 0.898 83 0% 80 52.5% 0 - - - - NULL PCDHGB6 56100 genome.wustl.edu 37 5 140788661 140788661 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018926.2 +1 reviewed p.T298A 0.012 56 0% 97 42.3% 2 0% possibly_damaging(0.894) deleterious(0.01) deleterious(0.758) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140794314 140794314 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018913.2 +1 reviewed p.F524 0.009 115 0% 115 39.1% 1 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140794681 140794681 + Missense_Mutation SNP G G A rs186848544 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018913.2 +1 reviewed p.V647I 0.942 40 0% 13 38.5% 3 0% possibly_damaging(0.544) tolerated(0.2) neutral(0.233) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140800929 140800929 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018914.2 +1 reviewed p.F45 0.005 32 0% 19 47.4% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140811893 140811893 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003735.2 +1 reviewed p.E523K 0.996 81 0% 65 44.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC3 5098 genome.wustl.edu 37 5 140857002 140857002 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002588.2 +1 reviewed p.L440R 0.003 173 0% 182 48.9% 7 42.8% possibly_damaging(0.902) tolerated(0.43) neutral(0.370) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DIAPH1 1729 genome.wustl.edu 37 5 140913969 140913969 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005219.4 -1 reviewed p.K838N 1.000 294 0% 435 12.9% 49 14.2% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) RELL2 285613 genome.wustl.edu 37 5 141019529 141019529 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130029.1 +1 validated p.E182 0.999 15 0% 11 36.4% 7 14.2% - - - NULL PCDH12 51294 genome.wustl.edu 37 5 141335544 141335544 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016580.2 -1 reviewed p.D625Y 1.000 162 0% 64 40.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH12 51294 genome.wustl.edu 37 5 141336282 141336282 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016580.2 -1 reviewed p.D379Y 0.000 269 0% 108 46.3% 1 0% possibly_damaging(0.502) deleterious(0.04) deleterious(0.516) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin NR3C1 2908 genome.wustl.edu 37 5 142661537 142661537 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024094.1 -1 reviewed p.E752K 1.000 162 0% 72 47.2% 0 - unknown(0) deleterious(0) - HMMPfam_Hormone_recep,superfamily_Str_ncl_receptor NR3C1 2908 genome.wustl.edu 37 5 142680226 142680226 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024094.1 -1 reviewed p.T525M 0.279 289 0% 80 11.3% 1 0% benign(0.022) tolerated(0.09) neutral(0.297) NULL NR3C1 2908 genome.wustl.edu 37 5 142780280 142780280 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024094.1 -1 reviewed p.S42Y 0.996 28 0% 56 37.5% 0 - benign(0.315) tolerated(0.05) neutral(0.444) HMMPfam_GCR NR3C1 2908 genome.wustl.edu 37 5 142780282 142780282 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024094.1 -1 reviewed p.V41 0.677 29 0% 56 28.6% 0 - - - - HMMPfam_GCR SH3RF2 153769 genome.wustl.edu 37 5 145439781 145439781 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152550.3 +1 validated p.I636 0.001 107 0% 34 38.2% 13 23% - - - NULL RBM27 54439 genome.wustl.edu 37 5 145613012 145613012 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018989.1 +1 validated e7-1 1.000 238 0% 181 39.8% 2 100% - - - - RBM27 54439 genome.wustl.edu 37 5 145665559 145665559 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018989.1 +1 validated p.E1050A 1.000 168 0% 118 40.7% 28 42.8% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL GPR151 134391 genome.wustl.edu 37 5 145894947 145894947 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194251.2 -1 provisional p.R244C 1.000 81 0% 96 41.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 PPP2R2B 5521 genome.wustl.edu 37 5 145979966 145979966 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181676.2 -1 reviewed p.S286L 1.000 279 0% 81 46.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like JAKMIP2 9832 genome.wustl.edu 37 5 147015821 147015821 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014790.3 -1 provisional p.Q547H 1.000 209 0% 88 46.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL JAKMIP2 9832 genome.wustl.edu 37 5 147019324 147019324 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014790.3 -1 provisional e9-1 1.000 219 0% 117 48.7% 0 - - - - - JAKMIP2 9832 genome.wustl.edu 37 5 147028027 147028027 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014790.3 -1 provisional p.R283I 1.000 334 0.3% 151 11.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL JAKMIP2 9832 genome.wustl.edu 37 5 147030085 147030085 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014790.3 -1 provisional p.R218M 1.000 171 0% 51 41.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL JAKMIP2 9832 genome.wustl.edu 37 5 147040983 147040983 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014790.3 -1 provisional p.T52N 1.000 128 0% 17 35.3% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL SPINK5 11005 genome.wustl.edu 37 5 147465984 147465984 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127698.1 +1 reviewed p.F100C 0.192 421 0% 99 69.7% 0 - probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors SPINK5 11005 genome.wustl.edu 37 5 147516549 147516549 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127698.1 +1 reviewed p.E1094K 0.001 166 0% 61 42.6% 2 50% benign(0.001) tolerated(1) - NULL FBXO38 81545 genome.wustl.edu 37 5 147813282 147813282 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_205836.1 +1 validated p.K947E 1.000 160 0% 129 45.7% 17 64.7% possibly_damaging(0.891) deleterious(0) deleterious(0.795) NULL HTR4 3360 genome.wustl.edu 37 5 147902897 147902897 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040173.2 -1 reviewed p.I122 1.000 142 0.7% 39 53.8% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 ADRB2 154 genome.wustl.edu 37 5 148206726 148206726 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000024.5 +1 reviewed p.S111F 0.997 226 0% 113 51.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SH3TC2 79628 genome.wustl.edu 37 5 148417971 148417971 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024577.3 -1 reviewed p.E296D 1.000 185 0% 70 34.3% 0 - benign(0.003) tolerated(0.2) neutral(0.049) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ABLIM3 22885 genome.wustl.edu 37 5 148630012 148630012 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014945.2 +1 validated p.P578S 1.000 322 0% 127 49.6% 0 - benign(0.003) tolerated(0.1) neutral(0.286) NULL AFAP1L1 134265 genome.wustl.edu 37 5 148709336 148709336 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152406.2 +1 validated p.L640 1.000 146 0% 73 47.9% 0 - - - - NULL PCYOX1L 78991 genome.wustl.edu 37 5 148748061 148748061 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024028.3 +1 validated p.L443 1.000 47 0% 37 35.1% 4 50% - - - HMMPfam_Prenylcys_lyase,superfamily_FAD/NAD(P)-binding domain PDE6A 5145 genome.wustl.edu 37 5 149245769 149245769 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000440.2 -1 reviewed p.V774 0.683 200 0% 115 45.2% 0 - - - - HMMPfam_PDEase_I,superfamily_SSF109604 PDE6A 5145 genome.wustl.edu 37 5 149278013 149278013 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000440.2 -1 reviewed p.M440I 1.000 277 0% 223 43.5% 0 - benign(0.218) tolerated(0.47) neutral(0.033) HMMSmart_GAF,superfamily_SSF55781 TIGD6 81789 genome.wustl.edu 37 5 149374728 149374728 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030953.2 -1 validated p.D395G 0.005 157 0% 94 41.5% 8 25% benign(0.001) tolerated(0.07) neutral(0.319) NULL CD74 972 genome.wustl.edu 37 5 149784247 149784247 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001025159.1 -1 validated p.P207 0.001 80 0% 35 42.9% 918 0.2% - - - superfamily_Thyroglobulin type-1 domain,HMMPfam_MHCassoc_trimer,superfamily_Class II MHC-associated invariant chain ectoplasmic trimerization domain NDST1 3340 genome.wustl.edu 37 5 149919666 149919666 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001543.4 +1 validated p.L530P 1.000 123 0% 49 34.7% 19 47.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SYNPO 11346 genome.wustl.edu 37 5 150027925 150027925 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007286.5 +1 validated p.L30I 0.807 87 0% 43 48.8% 5 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SYNPO 11346 genome.wustl.edu 37 5 150028685 150028685 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007286.5 +1 validated p.R283Q 0.963 42 0% 30 43.3% 1 0% benign(0.005) tolerated(0.85) neutral(0.001) NULL ZNF300 91975 genome.wustl.edu 37 5 150275300 150275300 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052860.2 -1 reviewed p.A501S 1.000 190 0% 33 15.2% 0 - probably_damaging(0.978) tolerated(0.07) deleterious(0.740) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCDC69 26112 genome.wustl.edu 37 5 150565607 150565607 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015621.2 -1 validated p.R158 0.990 215 0% 139 48.2% 3 0% - - - NULL FAT2 2196 genome.wustl.edu 37 5 150889600 150889600 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001447.2 -1 reviewed p.H4014R 0.080 133 0% 61 36.1% 0 - benign(0.273) tolerated(0.35) neutral(0.050) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin FAT2 2196 genome.wustl.edu 37 5 150922794 150922794 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001447.2 -1 reviewed p.D2632Y 0.995 190 0% 80 31.2% 1 100% probably_damaging(0.955) deleterious(0.01) deleterious(0.804) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150923132 150923132 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001447.2 -1 reviewed p.T2519N 1.000 140 0% 71 40.8% 0 - probably_damaging(0.996) tolerated(0.37) deleterious(0.481) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150925609 150925609 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001447.2 -1 reviewed p.E1693D 1.000 126 0% 98 48% 0 - probably_damaging(0.963) tolerated(0.38) neutral(0.423) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150925785 150925785 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001447.2 -1 reviewed p.Q1635K 1.000 236 0% 75 12% 0 - probably_damaging(0.958) tolerated(1) neutral(0.402) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150929031 150929031 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001447.2 -1 reviewed p.F1538 0.997 77 0% 39 20.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150945901 150945901 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001447.2 -1 reviewed p.E864D 0.986 118 0% 87 43.7% 0 - benign(0) tolerated(1) - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150946748 150946748 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001447.2 -1 reviewed p.S582L 0.001 82 0% 115 43.5% 0 - benign(0.032) tolerated(0.74) neutral(0.003) HMMPfam_Cadherin,superfamily_Cadherin-like GLRA1 2741 genome.wustl.edu 37 5 151304089 151304089 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000171.3 -1 reviewed p.R8* 1.000 394 0% 163 40.5% 0 - - - - NULL NMUR2 56923 genome.wustl.edu 37 5 151784202 151784202 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020167.4 -1 reviewed p.S158N 1.000 65 0% 28 39.3% 0 - possibly_damaging(0.786) deleterious(0) deleterious(0.739) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM114A2 10827 genome.wustl.edu 37 5 153406023 153406023 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018691.2 -1 validated p.L283F 1.000 181 0% 57 56.1% 7 42.8% possibly_damaging(0.885) deleterious(0.04) deleterious(0.695) NULL FAM114A2 10827 genome.wustl.edu 37 5 153414430 153414430 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018691.2 -1 validated p.K28N 0.909 247 0% 105 42.9% 9 55.5% benign(0.167) deleterious(0.03) neutral(0.380) NULL LARP1 23367 genome.wustl.edu 37 5 154193632 154193632 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015315.3 +1 validated p.S1012 0.601 65 0% 33 48.5% 42 40.4% - - - NULL GEMIN5 25929 genome.wustl.edu 37 5 154278114 154278114 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015465.3 -1 validated p.I1077 0.000 70 0% 22 36.4% 25 52% - - - NULL GEMIN5 25929 genome.wustl.edu 37 5 154287276 154287276 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015465.3 -1 validated p.S757L 0.000 377 0% 347 45.5% 12 50% benign(0) tolerated(0.23) neutral(0.042) NULL KIF4B 285643 genome.wustl.edu 37 5 154394568 154394568 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099293.1 +1 provisional p.E383D 0.697 154 0% 171 37.4% 0 - benign(0.03) tolerated(0.26) neutral(0.036) NULL KIF4B 285643 genome.wustl.edu 37 5 154396833 154396833 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099293.1 +1 provisional p.S1138 0.056 260 0% 160 46.3% 0 - - - - NULL TIMD4 91937 genome.wustl.edu 37 5 156349148 156349148 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138379.2 -1 validated p.F325C 0.054 253 0% 87 46% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL HAVCR1 26762 genome.wustl.edu 37 5 156476060 156476060 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099414.1 -1 reviewed p.S257Y 0.000 934 0% 249 38.2% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL HAVCR1 26762 genome.wustl.edu 37 5 156479517 156479517 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099414.1 -1 reviewed p.T176 0.000 844 0% 307 42.7% 0 - - - - NULL HAVCR2 84868 genome.wustl.edu 37 5 156515982 156515982 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032782.3 -1 validated p.S228Y 0.414 210 0% 291 42.3% 1 0% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL SOX30 11063 genome.wustl.edu 37 5 157073788 157073788 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178424.1 -1 reviewed p.R415Q 1.000 183 0% 111 50.5% 0 - possibly_damaging(0.776) tolerated(0.1) deleterious(0.576) NULL THG1L 54974 genome.wustl.edu 37 5 157162885 157162885 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017872.3 +1 provisional p.F190L 1.000 66 0% 191 49.7% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Thg1 UBLCP1 134510 genome.wustl.edu 37 5 158710265 158710265 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145049.3 +1 validated p.E283* 1.000 185 0% 109 46.8% 18 5.5% - - - HMMPfam_NIF,superfamily_HAD-like PWWP2A 114825 genome.wustl.edu 37 5 159521000 159521000 + Silent SNP C C T rs188529751 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130864.1 -1 validated p.P219 1.000 209 0% 166 14.5% 7 14.2% - - - NULL C1QTNF2 114898 genome.wustl.edu 37 5 159776466 159776466 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031908.4 -1 validated p.C234 0.198 79 0% 50 56% 2 0% - - - HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like ATP10B 23120 genome.wustl.edu 37 5 159996531 159996531 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025153.2 -1 validated p.L1304I 1.000 262 0% 21 42.9% 5 80% benign(0.032) tolerated(0.24) neutral(0.039) NULL ATP10B 23120 genome.wustl.edu 37 5 160076231 160076231 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025153.2 -1 validated p.N236 0.981 270 0% 91 51.6% 3 0% - - - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A GABRB2 2561 genome.wustl.edu 37 5 160973383 160973383 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021911.2 -1 reviewed p.E38 1.000 73 0% 102 47.1% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA6 2559 genome.wustl.edu 37 5 161119083 161119083 + Silent SNP C C T rs148840190 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000811.2 +1 reviewed p.F321 0.981 291 0% 108 48.1% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA1 2554 genome.wustl.edu 37 5 161317931 161317931 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000806.5 +1 reviewed p.F244S 1.000 204 0% 89 37.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA1 2554 genome.wustl.edu 37 5 161324184 161324184 + Missense_Mutation SNP C C G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000806.5 +1 reviewed p.T376S 1.000 135 0% 65 49.2% 0 - benign(0.058) tolerated(0.49) neutral(0.014) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRG2 2566 genome.wustl.edu 37 5 161495013 161495013 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198903.2 +1 reviewed p.S3L 1.000 69 0% 36 47.2% 0 - benign(0.002) deleterious(0.02) neutral(0.383) NULL GABRG2 2566 genome.wustl.edu 37 5 161520894 161520894 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198903.2 +1 reviewed p.V56 1.000 299 0% 55 49.1% 0 - - - - NULL CCNG1 900 genome.wustl.edu 37 5 162868208 162868208 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004060.3 +1 reviewed p.T130M 1.000 207 0% 157 40.8% 253 55.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like HMMR 3161 genome.wustl.edu 37 5 162891799 162891799 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142556.1 +1 reviewed p.S72 0.000 198 0% 180 51.7% 15 40% - - - NULL HMMR 3161 genome.wustl.edu 37 5 162900204 162900204 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142556.1 +1 reviewed p.K224Q 0.979 74 0% 73 45.2% 16 50% probably_damaging(0.996) tolerated(0.27) deleterious(0.495) NULL MAT2B 27430 genome.wustl.edu 37 5 162945236 162945236 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013283.3 +1 reviewed p.R291I 0.375 164 0% 90 37.8% 58 43.1% benign(0.044) tolerated(0.33) neutral(0.026) HMMPfam_RmlD_sub_bind,superfamily_NAD(P)-binding Rossmann-fold domains MAT2B 27430 genome.wustl.edu 37 5 162945299 162945299 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013283.3 +1 reviewed p.R312Q 0.999 227 0% 113 35.4% 65 43% possibly_damaging(0.844) tolerated(0.38) neutral(0.341) HMMPfam_RmlD_sub_bind,superfamily_NAD(P)-binding Rossmann-fold domains ODZ2 57451 genome.wustl.edu 37 5 167303142 167303142 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122679.1 +1 inferred p.F218L 1.000 464 0% 70 47.1% 0 - benign(0.037) deleterious(0.01) neutral(0.408) HMMPfam_Ten_N RARS 5917 genome.wustl.edu 37 5 167937606 167937606 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002887.3 +1 reviewed p.S456L 0.998 80 0% 76 46.1% 107 40.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase SLIT3 6586 genome.wustl.edu 37 5 168149967 168149967 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003062.2 -1 validated p.T794 1.000 185 0% 118 45.8% 1 0% - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like CCDC99 54908 genome.wustl.edu 37 5 169026135 169026135 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017785.4 +1 validated p.D432E 1.000 42 0% 30 36.7% 30 30% probably_damaging(0.999) tolerated(0.52) deleterious(0.499) NULL DOCK2 1794 genome.wustl.edu 37 5 169098091 169098091 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004946.2 +1 validated p.E78D 1.000 161 0% 52 19.2% 0 - possibly_damaging(0.512) deleterious(0.05) deleterious(0.517) NULL DOCK2 1794 genome.wustl.edu 37 5 169141087 169141087 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004946.2 +1 validated p.R572Q 1.000 61 0% 21 33.3% 1 0% probably_damaging(0.987) tolerated(0.19) deleterious(0.486) NULL FAM196B 100131897 genome.wustl.edu 37 5 169308421 169308421 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001129891.1 -1 predicted p.D458Y 1.000 318 0% 38 42.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM196B 100131897 genome.wustl.edu 37 5 169309749 169309749 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001129891.1 -1 predicted p.R385M 0.002 250 0% 47 44.7% 0 - benign(0.345) deleterious(0.01) deleterious(0.515) NULL DOCK2 1794 genome.wustl.edu 37 5 169494647 169494647 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004946.2 +1 validated p.I1534S 1.000 467 0% 100 35% 5 0% probably_damaging(0.994) deleterious(0.05) deleterious(0.797) NULL GABRP 2568 genome.wustl.edu 37 5 170216233 170216233 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014211.2 +1 reviewed p.L52I 1.000 138 0% 43 34.9% 5 20% possibly_damaging(0.754) tolerated(0.65) neutral(0.281) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like RANBP17 64901 genome.wustl.edu 37 5 170343498 170343498 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022897.2 +1 provisional p.S288 1.000 177 0% 35 48.6% 2 0% - - - superfamily_ARM repeat FBXW11 23291 genome.wustl.edu 37 5 171295779 171295779 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012300.2 -1 reviewed p.R497W 1.000 174 0.6% 64 29.7% 25 32% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FBXW11 23291 genome.wustl.edu 37 5 171326047 171326047 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012300.2 -1 reviewed p.F204 1.000 242 0.4% 74 14.9% 17 17.6% - - - superfamily_F-box domain DUSP1 1843 genome.wustl.edu 37 5 172197162 172197162 + Splice_Site SNP A A G rs112267987 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004417.3 -1 reviewed e2+2 1.000 27 0% 12 75% 3 100% - - - - RPL26L1 51121 genome.wustl.edu 37 5 172395521 172395521 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016093.2 +1 reviewed p.K76N 1.000 111 0% 66 28.8% 124 42.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_KOW,HMMSmart_SM00739,superfamily_Translation proteins SH3-like domain CREBRF 153222 genome.wustl.edu 37 5 172517341 172517341 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153607.2 +1 validated p.Q53H 1.000 99 0% 78 33.3% 2 0% possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL CREBRF 153222 genome.wustl.edu 37 5 172517849 172517849 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153607.2 +1 validated p.E223* 0.999 135 0% 87 43.7% 1 0% - - - NULL BNIP1 662 genome.wustl.edu 37 5 172573954 172573954 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013979.2 +1 reviewed p.R57I 1.000 69 0% 48 47.9% 11 54.5% possibly_damaging(0.741) tolerated(0.12) deleterious(0.532) NULL C5orf47 133491 genome.wustl.edu 37 5 173426715 173426715 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144954.1 +1 validated p.N142D 0.784 209 0% 78 42.3% 0 - probably_damaging(0.984) tolerated(0.18) deleterious(0.486) NULL DRD1 1812 genome.wustl.edu 37 5 174869831 174869831 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000794.3 -1 reviewed p.P91H 1.000 93 0% 37 48.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CLTB 1212 genome.wustl.edu 37 5 175819819 175819819 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000310418 -1 known p.R216C 1.000 329 0% 67 50.7% 298 41.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Clathrin_lg_ch,PatternScan_CLATHRIN_LIGHT_CHN_2 CDHR2 54825 genome.wustl.edu 37 5 176004534 176004534 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017675.4 +1 reviewed p.R443 0.000 66 0% 29 48.3% 0 - - - - HMMSmart_CA,superfamily_Cadherin GPRIN1 114787 genome.wustl.edu 37 5 176025771 176025771 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052899.2 -1 validated p.P355 0.020 6 0.000 19 0.263 5 60% - - - NULL ZNF346 23567 genome.wustl.edu 37 5 176468873 176468873 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012279.2 +1 reviewed e3+2 1.000 41 0% 49 36.7% 0 - - - - - ZNF346 23567 genome.wustl.edu 37 5 176471435 176471435 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012279.2 +1 reviewed p.N140D 1.000 145 0% 65 60% 16 56.2% probably_damaging(0.994) tolerated(0.19) deleterious(0.502) HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 NSD1 64324 genome.wustl.edu 37 5 176637697 176637697 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022455.4 +1 reviewed p.S766L 0.911 149 0% 84 40.5% 9 55.5% possibly_damaging(0.812) deleterious(0) deleterious(0.750) NULL NSD1 64324 genome.wustl.edu 37 5 176700767 176700767 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022455.4 +1 reviewed p.P1868 0.012 131 0% 106 40.6% 28 46.4% - - - superfamily_Tudor/PWWP/MBT,superfamily_SET domain PRELID1 27166 genome.wustl.edu 37 5 176732884 176732884 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013237.2 +1 provisional p.R111* 1.000 191 0% 240 42.1% 188 10.1% - - - HMMPfam_PRELI PRELID1 27166 genome.wustl.edu 37 5 176733102 176733102 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013237.2 +1 provisional p.F146V 1.000 167 0% 228 35.5% 139 0.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PRELI FAM153C 653316 genome.wustl.edu 37 5 177457621 177457621 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000511189 +1 known p.E10K 0.000 256 0% 179 51.4% 0 - possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL CLK4 57396 genome.wustl.edu 37 5 178045649 178045649 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020666.2 -1 reviewed p.R98* 0.509 157 0% 69 56.5% 10 40% - - - NULL ZNF354B 117608 genome.wustl.edu 37 5 178309732 178309732 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_058230.2 +1 validated p.M93I 0.001 39 0% 44 40.9% 13 53.8% benign(0.011) tolerated(0.33) neutral(0.025) NULL ZFP2 80108 genome.wustl.edu 37 5 178358915 178358915 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030613.2 +1 provisional p.L201F 0.681 61 0% 73 52.1% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178392553 178392553 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182594.2 +1 validated p.P383H 1.000 106 0% 117 35% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178392574 178392574 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182594.2 +1 validated p.G390V 1.000 105 0% 129 42.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GRM6 2916 genome.wustl.edu 37 5 178416330 178416330 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000843.3 -1 reviewed p.E363D 1.000 48 0% 57 40.4% 0 - benign(0) tolerated(0.98) - HMMPfam_ANF_receptor,superfamily_SSF53822 GRM6 2916 genome.wustl.edu 37 5 178418532 178418532 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000843.3 -1 reviewed p.K250N 1.000 48 0% 57 36.8% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_ANF_receptor,superfamily_SSF53822 ZNF879 345462 genome.wustl.edu 37 5 178455038 178455038 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136116.1 +1 provisional p.L56I 0.908 88 0% 70 12.9% 4 25% unknown(0) - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF879 345462 genome.wustl.edu 37 5 178459520 178459520 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136116.1 +1 provisional p.L191I 0.895 68 0% 96 32.3% 3 0% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) superfamily_C2H2 and C2HC zinc fingers ZNF879 345462 genome.wustl.edu 37 5 178460262 178460262 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136116.1 +1 provisional p.S438Y 0.045 56 0% 90 41.1% 2 100% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ADAMTS2 9509 genome.wustl.edu 37 5 178540959 178540959 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014244.2 -1 reviewed p.R1182Q 0.904 655 0% 422 41.5% 3 0% benign(0.059) tolerated(0.27) neutral(0.038) NULL ENSG00000251657 0 genome.wustl.edu 37 5 178951976 178951976 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000506689 -1 known NULL 0.003 6 0.000 17 0.588 0 - - - - - CANX 821 genome.wustl.edu 37 5 179142899 179142899 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000508787 +1 known e4-1 0.009 11 0% 25 36% 1 100% - - - - TBC1D9B 23061 genome.wustl.edu 37 5 179292319 179292319 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198868.2 -1 validated p.R1003* 0.269 82 0% 89 41.6% 142 29.5% - - - NULL TBC1D9B 23061 genome.wustl.edu 37 5 179318572 179318572 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198868.2 -1 validated p.R284Q 0.998 57 0% 24 50% 60 55% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL RNF130 55819 genome.wustl.edu 37 5 179405213 179405213 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018434.4 -1 reviewed p.L280I 0.998 229 0% 132 47% 248 44.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 MIR340 442908 genome.wustl.edu 37 5 179442309 179442309 + RNA SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000362125 -1 known NULL 1.000 196 0% 133 46.6% 0 - - - - - RASGEF1C 255426 genome.wustl.edu 37 5 179546391 179546391 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175062.3 -1 validated p.E288K 1.000 134 0% 43 41.9% 1 0% possibly_damaging(0.599) deleterious(0) deleterious(0.652) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF FLT4 2324 genome.wustl.edu 37 5 180047230 180047230 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182925.4 -1 reviewed p.E829K 1.000 4 0.000 24 0.333 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL OR2Y1 134083 genome.wustl.edu 37 5 180166292 180166292 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001657.1 -1 provisional p.Y256C 0.000 133 0% 60 50% 0 - probably_damaging(0.993) tolerated(0.11) deleterious(0.722) HMMPfam_7tm_1,superfamily_SSF81321 ZFP62 643836 genome.wustl.edu 37 5 180276541 180276541 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152283.4 -1 validated p.K592E 1.000 161 0% 136 47.8% 25 52% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR2V2 285659 genome.wustl.edu 37 5 180582705 180582705 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206880.1 +1 provisional p.A255T 0.677 206 0% 108 44.4% 0 - probably_damaging(0.999) tolerated(0.25) deleterious(0.527) HMMPfam_7tm_1,superfamily_SSF81321 IRF4 3662 genome.wustl.edu 37 6 401715 401715 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002460.2 +1 validated p.R346Q 1.000 29 0% 36 63.9% 0 - benign(0.242) tolerated(0.29) neutral(0.054) superfamily_SMAD/FHA domain,HMMPfam_IRF-3 EXOC2 55770 genome.wustl.edu 37 6 619531 619531 + Silent SNP C C T rs192548095 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018303.4 -1 reviewed p.S145 0.825 265 0% 213 46.5% 10 60% - - - NULL FOXF2 2295 genome.wustl.edu 37 6 1395012 1395012 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001452.1 +1 reviewed p.S418F 1.000 151 0% 225 44% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL GMDS 2762 genome.wustl.edu 37 6 1930454 1930454 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001500.2 -1 validated p.F218 1.000 190 0.5% 63 50.8% 83 34.9% - - - HMMPfam_Epimerase,superfamily_NAD(P)-bd GMDS 2762 genome.wustl.edu 37 6 1961161 1961161 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001500.2 -1 validated p.G129R 1.000 146 0% 51 45.1% 89 38.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Epimerase,superfamily_NAD(P)-bd MYLK4 340156 genome.wustl.edu 37 6 2685565 2685565 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012418.3 -1 validated p.F170 0.931 114 0% 34 38.2% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SERPINB9 5272 genome.wustl.edu 37 6 2900754 2900754 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004155.4 -1 validated p.S31Y 1.000 313 0% 90 40% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB6 5269 genome.wustl.edu 37 6 2948924 2948924 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004568.4 -1 validated p.E247* 0.892 135 0% 83 34.9% 74 12.1% - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin TUBB2B 347733 genome.wustl.edu 37 6 3225015 3225015 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178012.4 -1 reviewed p.F436 0.954 35 0% 35 31.4% 2 0% - - - NULL FAM50B 26240 genome.wustl.edu 37 6 3850189 3850189 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012135.1 +1 provisional p.R48 0.998 37 0% 13 61.5% 14 92.8% - - - NULL FAM217A 222826 genome.wustl.edu 37 6 4074896 4074896 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173563.1 -1 predicted e2-1 1.000 64 0% 123 51.2% 0 - - - - - CDYL 9425 genome.wustl.edu 37 6 4716006 4716006 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_026590.1 +1 reviewed NULL 0.003 60 0% 65 47.7% 0 - - - - - LOC100287622 100287622 genome.wustl.edu 37 6 5999313 5999313 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342600.1 +1 model p.R76* 1.000 230 0.4% 70 45.7% 21 61.9% possibly_damaging(0.658) tolerated(0.06) deleterious(0.555) NULL NRN1 51299 genome.wustl.edu 37 6 6002729 6002729 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016588.2 -1 reviewed p.A19 0.968 67 0% 18 27.8% 10 50% - - - NULL CAGE1 285782 genome.wustl.edu 37 6 7373701 7373701 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_205864.2 -1 validated p.E315* 0.988 271 0% 411 42.6% 0 - - - - NULL DSP 1832 genome.wustl.edu 37 6 7571679 7571679 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004415.2 +1 reviewed p.E589* 1.000 123 0% 95 36.8% 4 25% - - - NULL DSP 1832 genome.wustl.edu 37 6 7579784 7579784 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004415.2 +1 reviewed p.E1121* 1.000 79 0% 80 38.8% 7 57.1% - - - NULL DSP 1832 genome.wustl.edu 37 6 7579791 7579791 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004415.2 +1 reviewed p.R1123I 0.993 76 0% 78 44.9% 6 50% probably_damaging(0.995) tolerated(0.05) deleterious(0.803) NULL DSP 1832 genome.wustl.edu 37 6 7584869 7584869 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004415.2 +1 reviewed p.K2458N 0.965 122 0% 116 40.5% 17 64.7% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Plectin,HMMSmart_SM00250 DSP 1832 genome.wustl.edu 37 6 7585737 7585737 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004415.2 +1 reviewed p.E2748K 1.000 38 0% 20 40% 30 56.6% possibly_damaging(0.941) deleterious(0.02) deleterious(0.770) HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat BMP6 654 genome.wustl.edu 37 6 7879306 7879306 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001718.4 +1 reviewed e5-1 1.000 108 0% 88 39.8% 0 - - - - - SLC35B3 51000 genome.wustl.edu 37 6 8430112 8430112 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142540.1 -1 validated p.I94M 0.999 58 0% 46 50% 10 70% benign(0.048) tolerated(0.07) neutral(0.322) HMMPfam_UAA TFAP2A 7020 genome.wustl.edu 37 6 10410388 10410388 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003220.2 -1 reviewed p.V76I 1.000 53 0% 22 40.9% 0 - possibly_damaging(0.946) deleterious(0.03) deleterious(0.754) NULL TFAP2A 7020 genome.wustl.edu 37 6 10415208 10415208 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003220.2 -1 reviewed p.K4T 1.000 326 0% 83 43.4% 0 - benign(0) - - NULL GCNT2 2651 genome.wustl.edu 37 6 10529868 10529868 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145649.4 +1 reviewed p.S242A 0.661 70 0% 80 31.2% 12 58.3% benign(0.045) tolerated(0.51) neutral(0.011) HMMPfam_Branch GCNT2 2651 genome.wustl.edu 37 6 10586680 10586680 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145655.3 +1 reviewed p.A153V 0.977 75 0% 61 39.3% 0 - benign(0.018) deleterious(0.02) neutral(0.384) HMMPfam_Branch MAK 4117 genome.wustl.edu 37 6 10770458 10770458 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005906.3 -1 reviewed p.L535I 0.972 204 0% 105 41% 0 - benign(0.174) tolerated(0.41) neutral(0.031) NULL MAK 4117 genome.wustl.edu 37 6 10791909 10791909 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005906.3 -1 reviewed p.R439W 0.990 41 0% 38 36.8% 1 0% possibly_damaging(0.66) deleterious(0) deleterious(0.677) NULL GCM2 9247 genome.wustl.edu 37 6 10874513 10874513 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004752.3 -1 reviewed p.S412 0.000 175 0% 93 43% 0 - - - - NULL LOC100288888 100288888 genome.wustl.edu 37 6 10882041 10882041 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342614.1 +1 model p.L165 0.000 28 0.000 6 0.667 0 - - - - NULL SYCP2L 221711 genome.wustl.edu 37 6 10912935 10912935 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040274.2 +1 validated p.E316D 0.994 222 0% 116 39.7% 0 - benign(0.189) tolerated(0.05) neutral(0.363) NULL SYCP2L 221711 genome.wustl.edu 37 6 10924736 10924736 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040274.2 +1 validated p.E360D 0.000 121 0% 127 37% 0 - benign(0.003) tolerated(1) - NULL ADTRP 84830 genome.wustl.edu 37 6 11766569 11766569 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143948.1 -1 validated p.R128* 0.891 215 0% 79 38% 0 - - - - HMMPfam_Far-17a_AIG1 TBC1D7 51256 genome.wustl.edu 37 6 13327073 13327073 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143964.1 -1 validated p.R20C 1.000 89 0% 200 40% 33 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ypt/Rab-GAP domain of gyp1p GFOD1 54438 genome.wustl.edu 37 6 13470205 13470205 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033069.2 -1 predicted p.R103I 0.000 146 0% 165 49.7% 1 100% unknown(0) - - NULL GFOD1 54438 genome.wustl.edu 37 6 13470327 13470327 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033069.2 -1 predicted p.N62 0.000 87 0% 113 44.2% 0 - - - - NULL SIRT5 23408 genome.wustl.edu 37 6 13595737 13595737 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012241.3 +1 reviewed p.S168 1.000 452 0% 384 43.5% 14 28.5% - - - HMMPfam_SIR2,superfamily_DHS-like NAD/FAD-binding domain NOL7 51406 genome.wustl.edu 37 6 13618354 13618354 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016167.3 +1 provisional p.Q161H 0.891 81 0% 124 43.5% 173 47.9% probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL RANBP9 10048 genome.wustl.edu 37 6 13642738 13642738 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005493.2 -1 reviewed p.E400* 1.000 161 0% 68 48.5% 15 0% - - - NULL RNF182 221687 genome.wustl.edu 37 6 13977624 13977624 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152737.3 +1 validated p.T92P 1.000 206 0% 43 48.8% 0 - benign(0.208) tolerated(0.05) neutral(0.365) NULL JARID2 3720 genome.wustl.edu 37 6 15501454 15501454 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004973.2 +1 reviewed p.F754 0.995 45 0% 16 56.2% 24 45.8% - - - NULL JARID2 3720 genome.wustl.edu 37 6 15507580 15507580 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004973.2 +1 reviewed p.H888 0.303 131 0% 76 28.9% 19 47.3% - - - HMMSmart_SM00558 CAP2 10486 genome.wustl.edu 37 6 17421882 17421882 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006366.2 +1 reviewed p.C32 0.176 270 0.7% 73 49.3% 4 0% - - - HMMPfam_CAP_N NUP153 9972 genome.wustl.edu 37 6 17637421 17637421 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005124.2 -1 reviewed p.E809D 1.000 122 0% 62 41.9% 31 41.9% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1 NUP153 9972 genome.wustl.edu 37 6 17637957 17637957 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005124.2 -1 reviewed p.A631T 0.369 248 0% 101 47.5% 23 21.7% benign(0) tolerated(0.83) neutral(0.001) HMMPfam_Nup153 NUP153 9972 genome.wustl.edu 37 6 17706608 17706608 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005124.2 -1 reviewed p.G4E 0.971 21 0% 16 56.2% 2 50% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL KIF13A 63971 genome.wustl.edu 37 6 17780964 17780964 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000358380 -1 known p.N675S 0.695 190 0% 182 47.3% 9 33.3% - - - NULL KIF13A 63971 genome.wustl.edu 37 6 17797027 17797027 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022113.4 -1 validated p.E939* 1.000 88 0% 34 38.2% 2 0% - - - NULL KDM1B 221656 genome.wustl.edu 37 6 18197817 18197817 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153042.3 +1 validated e8-1 1.000 87 0% 116 49.1% 0 - - - - - DEK 7913 genome.wustl.edu 37 6 18226453 18226453 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003472.3 -1 reviewed p.T356 1.000 41 0% 101 50.5% 143 50.3% - - - HMMPfam_DEK_C,superfamily_DEK C-terminal domain DEK 7913 genome.wustl.edu 37 6 18249888 18249888 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003472.3 -1 reviewed p.E252D 1.000 87 0% 252 47.6% 146 41% unknown(0) tolerated(0.58) - NULL PRL 5617 genome.wustl.edu 37 6 22287740 22287740 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000948.4 -1 validated p.R192H 0.241 242 0% 142 46.5% 0 - probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_Hormone_1,superfamily_4-helical cytokines GPLD1 2822 genome.wustl.edu 37 6 24467453 24467453 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001503.2 -1 reviewed p.R199* 0.004 203 0% 165 45.5% 0 - - - - NULL GPLD1 2822 genome.wustl.edu 37 6 24473820 24473820 + Missense_Mutation SNP A A C rs112936717 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_177483.1 -1 reviewed p.F173V 0.000 115 0% 105 41.9% 0 - possibly_damaging(0.782) tolerated(0.14) deleterious(0.542) NULL FAM65B 9750 genome.wustl.edu 37 6 24843448 24843448 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014722.2 -1 validated p.R521Q 0.005 254 0% 117 42.7% 0 - benign(0.001) tolerated(0.48) neutral(0.011) NULL SCGN 10590 genome.wustl.edu 37 6 25701477 25701477 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006998.3 +1 reviewed p.L249I 1.000 251 0% 61 52.5% 0 - benign(0.252) tolerated(1) neutral(0.026) HMMSmart_SM00054,superfamily_EF-hand SLC17A3 10786 genome.wustl.edu 37 6 25862484 25862484 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098486.1 -1 validated p.A94S 0.000 136 0% 35 11.4% 0 - probably_damaging(0.974) tolerated(0.84) neutral(0.416) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC17A2 10246 genome.wustl.edu 37 6 25921430 25921430 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005835.2 -1 validated p.R151W 0.691 242 0% 117 49.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HIST1H2BB 3018 genome.wustl.edu 37 6 26043673 26043673 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021062.2 -1 reviewed p.F71 1.000 356 0% 162 46.9% 0 - - - - HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold HIST1H2AE 3012 genome.wustl.edu 37 6 26217493 26217493 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021052.2 +1 reviewed p.L97 1.000 183 0% 56 41.1% 7 71.4% - - - HMMSmart_SM00414,superfamily_Histone-fold BTN2A2 10385 genome.wustl.edu 37 6 26390390 26390390 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006995.3 +1 reviewed p.K294N 0.001 275 0% 187 49.2% 8 62.5% benign(0.007) tolerated(0.45) neutral(0.012) NULL BTN3A3 10384 genome.wustl.edu 37 6 26445941 26445941 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006994.4 +1 validated p.S148Y 0.863 193 0% 101 51.5% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48726 ZNF322 79692 genome.wustl.edu 37 6 26638262 26638262 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024639.3 -1 validated p.R174* 1.000 361 0% 173 13.9% 5 60% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PRSS16 10279 genome.wustl.edu 37 6 27220721 27220721 + Silent SNP C C T rs191407230 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000475106 +1 known p.R160W 0.983 288 0% 85 44.7% 8 37.5% - - - HMMPfam_Peptidase_S28 POM121L2 94026 genome.wustl.edu 37 6 27279091 27279091 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000444565 -1 known p.K287Q 0.075 105 0% 81 45.7% 0 - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) NULL POM121L2 94026 genome.wustl.edu 37 6 27279369 27279369 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000444565 -1 known p.S194L 0.005 248 0% 118 28.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF391 346157 genome.wustl.edu 37 6 27368259 27368259 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001076781.1 +1 validated p.S37Y 0.080 152 0% 82 45.1% 2 0% probably_damaging(0.962) deleterious(0.03) deleterious(0.770) NULL ZNF165 7718 genome.wustl.edu 37 6 28056407 28056407 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003447.3 +1 reviewed p.R206I 0.031 42 0% 60 58.3% 7 57.1% possibly_damaging(0.677) tolerated(0.06) deleterious(0.564) NULL ZNF165 7718 genome.wustl.edu 37 6 28056527 28056527 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003447.3 +1 reviewed p.R246I 0.000 62 0% 71 50.7% 11 63.6% benign(0.121) tolerated(0.4) neutral(0.026) NULL ZNF165 7718 genome.wustl.edu 37 6 28056533 28056533 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003447.3 +1 reviewed p.S248L 0.063 63 0% 74 41.9% 11 36.3% possibly_damaging(0.494) tolerated(0.42) neutral(0.179) NULL PGBD1 84547 genome.wustl.edu 37 6 28269816 28269816 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032507.3 +1 reviewed p.V729L 0.736 259 0% 59 45.8% 2 0% possibly_damaging(0.636) deleterious(0.01) deleterious(0.628) NULL ZSCAN12 9753 genome.wustl.edu 37 6 28359154 28359154 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000361028 -1 known p.E305K 0.001 358 0% 114 48.2% 1 100% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN12 9753 genome.wustl.edu 37 6 28366171 28366171 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000361028 -1 known p.T4 0.306 144 0% 163 41.1% 0 - - - - NULL SCAND3 114821 genome.wustl.edu 37 6 28540923 28540923 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052923.1 -1 provisional p.L915I 1.000 109 0.9% 73 45.2% 2 50% benign(0.388) deleterious(0.01) deleterious(0.530) NULL SCAND3 114821 genome.wustl.edu 37 6 28541039 28541039 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052923.1 -1 provisional p.R876Q 1.000 188 0% 105 44.8% 0 - possibly_damaging(0.867) tolerated(0.07) deleterious(0.655) NULL OR2J3 442186 genome.wustl.edu 37 6 29080183 29080183 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005216.2 +1 validated p.C172 0.157 103 0% 29 51.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR12D3 81797 genome.wustl.edu 37 6 29236373 29236373 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000396806 -1 known p.L272I 0.000 33 0% 15 53.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR12D3 81797 genome.wustl.edu 37 6 29236405 29236405 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000396806 -1 known p.G261E 0.002 44 0% 17 52.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5V1 81696 genome.wustl.edu 37 6 29323536 29323536 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030876.5 -1 validated p.A146V 0.001 113 0% 19 57.9% 0 - possibly_damaging(0.572) tolerated(1) neutral(0.196) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GABBR1 2550 genome.wustl.edu 37 6 29580340 29580340 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001470.2 -1 reviewed p.E540K 1.000 130 0% 45 48.9% 2 100% possibly_damaging(0.868) tolerated(0.38) neutral(0.355) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GABBR1 2550 genome.wustl.edu 37 6 29589891 29589891 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001470.2 -1 reviewed p.K352T 1.000 106 0% 59 45.8% 2 0% benign(0.378) tolerated(0.1) neutral(0.407) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I PPP1R10 5514 genome.wustl.edu 37 6 30574312 30574312 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002714.2 -1 reviewed p.E189D 1.000 122 0% 54 48.1% 35 57.1% benign(0.004) tolerated(0.43) neutral(0.013) NULL MDC1 9656 genome.wustl.edu 37 6 30672794 30672794 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014641.2 -1 reviewed p.S1389Y 0.000 191 0% 172 48.8% 8 37.5% benign(0.019) deleterious(0.03) neutral(0.365) NULL DPCR1 135656 genome.wustl.edu 37 6 30919216 30919216 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000462446 +1 known p.E992A 0.000 853 0% 311 45.7% 0 - probably_damaging(0.977) tolerated(0.59) neutral(0.423) NULL HLA-B 3106 genome.wustl.edu 37 6 31324474 31324474 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005514.6 -1 reviewed p.S112R 1.000 32 0% 17 70.6% 184 1% probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain TNXB 7148 genome.wustl.edu 37 6 32056669 32056669 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019105.6 -1 reviewed p.D891G 0.053 81 0% 33 12.1% 0 - possibly_damaging(0.86) tolerated(0.18) neutral(0.389) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HLA-DQA1 3117 genome.wustl.edu 37 6 32609159 32609159 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002122.3 +1 reviewed p.F52C 0.999 413 0% 107 46.7% 69 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MHC_II_alpha,superfamily_MHC_I/II-like_Ag-recog PSMB8 5696 genome.wustl.edu 37 6 32808814 32808814 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148919.3 -1 reviewed p.M251I 1.000 188 0% 102 38.2% 30 3.3% benign(0.006) tolerated(0.59) neutral(0.004) HMMPfam_Proteasome,superfamily_SSF56235 PSMB9 5698 genome.wustl.edu 37 6 32827297 32827297 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002800.4 +1 reviewed p.F216L 1.000 394 0.3% 110 40.9% 31 0% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) TAPBP 6892 genome.wustl.edu 37 6 33272136 33272136 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003190.4 -1 reviewed p.R383Q 0.885 40 0% 21 57.1% 56 39.2% probably_damaging(1) tolerated(0.35) deleterious(0.520) HMMPfam_C1-set,superfamily_SSF48726 MLN 4295 genome.wustl.edu 37 6 33766893 33766893 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002418.2 -1 reviewed p.E75K 0.000 170 0% 252 48.8% 0 - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Motilin_assoc UHRF1BP1 54887 genome.wustl.edu 37 6 34826285 34826285 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017754.3 +1 validated p.F718V 1.000 125 0% 92 47.8% 4 25% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ANKS1A 23294 genome.wustl.edu 37 6 34952894 34952894 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015245.2 +1 validated p.D350Y 0.982 177 0% 81 44.4% 3 0% possibly_damaging(0.562) deleterious(0.01) deleterious(0.598) NULL ZNF76 7629 genome.wustl.edu 37 6 35258428 35258428 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003427.3 +1 provisional p.R187Q 1.000 149 0% 52 53.8% 28 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LHFPL5 222662 genome.wustl.edu 37 6 35773722 35773722 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182548.3 +1 reviewed p.R92I 0.880 225 0% 117 17.9% 0 - benign(0.001) tolerated(0.46) neutral(0.012) HMMPfam_L_HGMIC_fpl SLC26A8 116369 genome.wustl.edu 37 6 35927290 35927290 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052961.2 -1 reviewed p.G604* 0.000 152 0% 96 41.7% 0 - - - - HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa MAPK14 1432 genome.wustl.edu 37 6 36063827 36063827 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139012.2 +1 reviewed p.K249T 1.000 373 0% 242 46.3% 10 30% benign(0.182) tolerated(0.44) neutral(0.029) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PNPLA1 285848 genome.wustl.edu 37 6 36275459 36275459 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145716.1 +1 validated p.S436L 0.000 100 0% 85 51.8% 0 - benign(0.003) deleterious(0) neutral(0.445) NULL C6orf222 389384 genome.wustl.edu 37 6 36287346 36287346 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010903.4 -1 validated p.F570L 0.310 80 0% 50 52% 0 - benign(0.004) tolerated(0.62) neutral(0.004) NULL PI16 221476 genome.wustl.edu 37 6 36929307 36929307 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153370.2 +1 validated p.I158 0.050 69 0% 53 47.2% 0 - - - - HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like RNF8 9025 genome.wustl.edu 37 6 37336764 37336764 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003958.3 +1 reviewed p.F249L 0.139 98 0% 60 46.7% 40 37.5% benign(0.009) tolerated(0.11) neutral(0.272) NULL ZFAND3 60685 genome.wustl.edu 37 6 38029538 38029538 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000373389 +1 known p.E71K 0.845 135 0% 42 47.6% 45 51.1% - - - NULL BTBD9 114781 genome.wustl.edu 37 6 38312862 38312862 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099272.1 -1 reviewed p.R388* 1.000 114 0% 82 45.1% 1 100% - - - HMMPfam_F5_F8_type_C,superfamily_Gal_bind_like DNAH8 1769 genome.wustl.edu 37 6 38704975 38704975 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.E82* 1.000 184 0% 65 53.8% 0 - - - - NULL DNAH8 1769 genome.wustl.edu 37 6 38750909 38750909 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.H580Y 0.971 272 0% 38 57.9% 0 - benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_DHC_N1 DNAH8 1769 genome.wustl.edu 37 6 38805718 38805718 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.A1239T 1.000 429 0% 162 33.3% 0 - benign(0.001) tolerated(0.33) neutral(0.024) NULL DNAH8 1769 genome.wustl.edu 37 6 38810249 38810249 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.K1307N 1.000 239 0% 98 45.9% 0 - benign(0.212) tolerated(0.27) neutral(0.054) HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38813482 38813482 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.E1443* 0.993 176 0% 94 55.3% 0 - - - - HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38818089 38818089 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.E1537D 1.000 215 0% 62 37.1% 0 - possibly_damaging(0.523) tolerated(0.2) neutral(0.225) HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38825477 38825477 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.I1756L 1.000 289 0% 184 11.4% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL DNAH8 1769 genome.wustl.edu 37 6 38881726 38881726 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.E3104K 1.000 267 0% 85 40% 0 - benign(0) tolerated(0.91) - NULL DNAH8 1769 genome.wustl.edu 37 6 38903405 38903405 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.V3615A 1.000 96 0% 100 37% 0 - probably_damaging(0.986) deleterious(0.03) deleterious(0.799) NULL DNAH8 1769 genome.wustl.edu 37 6 38950135 38950135 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001371.2 +1 validated p.F4066C 1.000 390 0% 153 47.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy KCNK17 89822 genome.wustl.edu 37 6 39271779 39271779 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031460.3 -1 reviewed p.F214 0.946 154 0% 35 57.1% 0 - - - - HMMPfam_Ion_trans_2,superfamily_SSF81324 KCNK16 83795 genome.wustl.edu 37 6 39282878 39282878 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032115.3 -1 reviewed p.A277V 0.000 87 0% 122 45.1% 0 - unknown(0) tolerated(0.15) - NULL KCNK16 83795 genome.wustl.edu 37 6 39284593 39284593 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135105.1 -1 reviewed p.T209I 1.000 48 0% 20 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans_2,superfamily_SSF81324 KCNK16 83795 genome.wustl.edu 37 6 39290201 39290201 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135105.1 -1 reviewed p.A39V 0.994 32 0% 10 50% 0 - possibly_damaging(0.77) tolerated(0.58) neutral(0.291) superfamily_SSF81324 TREML2 79865 genome.wustl.edu 37 6 41168911 41168911 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000373108 -1 known p.G5S 0.946 75 0% 31 29% 0 - - - - NULL TRERF1 55809 genome.wustl.edu 37 6 42231146 42231146 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033502.2 -1 reviewed p.S599Y 0.885 92 0% 38 31.6% 0 - possibly_damaging(0.832) tolerated(0.19) neutral(0.366) NULL UBR2 23304 genome.wustl.edu 37 6 42541552 42541552 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015255.2 +1 reviewed p.G53 0.967 127 0% 76 44.7% 2 50% - - - NULL UBR2 23304 genome.wustl.edu 37 6 42607986 42607986 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015255.2 +1 reviewed p.K633T 1.000 253 0% 169 45% 9 66.6% benign(0.003) tolerated(0.06) neutral(0.323) NULL KIAA0240 23506 genome.wustl.edu 37 6 42797069 42797069 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015349.1 +1 validated p.I333S 0.997 159 0% 106 46.2% 3 66.6% benign(0.039) deleterious(0) neutral(0.447) NULL LOC100287530 100287530 genome.wustl.edu 37 6 42891948 42891948 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342598.1 -1 model p.S75 0.000 28 0% 27 33.3% 0 - - - - NULL PPP2R5D 5528 genome.wustl.edu 37 6 42974719 42974719 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000470467 +1 known p.R51C 0.911 80 0% 80 47.5% 64 46.8% - - - HMMPfam_B56 RRP36 88745 genome.wustl.edu 37 6 42996900 42996900 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033112.2 +1 provisional p.F238L 1.000 60 0% 39 33.3% 124 51.6% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_DUF947 SLC22A7 10864 genome.wustl.edu 37 6 43268934 43268934 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153320.2 +1 reviewed p.Y297H 0.900 315 0% 118 56.8% 0 - benign(0.016) tolerated(0.19) neutral(0.050) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ZNF318 24149 genome.wustl.edu 37 6 43316087 43316087 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014345.2 -1 validated p.S1016L 0.005 393 0% 196 48.5% 5 80% possibly_damaging(0.923) deleterious(0.01) deleterious(0.778) NULL RSPH9 221421 genome.wustl.edu 37 6 43638717 43638717 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000372165 +1 known p.R305K 0.000 33 0% 26 38.5% 1 0% unknown(0) - - NULL NFKBIE 4794 genome.wustl.edu 37 6 44228214 44228214 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004556.2 -1 validated p.R391W 0.989 186 0% 145 42.8% 18 22.2% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SPATS1 221409 genome.wustl.edu 37 6 44337803 44337803 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145026.3 +1 validated p.K237N 0.992 141 0% 308 43.8% 0 - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) NULL RUNX2 860 genome.wustl.edu 37 6 45399653 45399653 + Frame_Shift_Del DEL T T - novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024630.3 +1 reviewed p.N228fs 0.998 - - - - - - - - - superfamily_P53_like_DNA_bnd,HMMPfam_Runt RCAN2 10231 genome.wustl.edu 37 6 46293151 46293151 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005822.2 -1 validated p.V22 1.000 150 0% 63 31.7% 1 0% - - - HMMPfam_Calcipressin TDRD6 221400 genome.wustl.edu 37 6 46661708 46661708 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010870.2 +1 validated p.S1948Y 0.058 250 0% 129 45.7% 0 - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL PLA2G7 7941 genome.wustl.edu 37 6 46684166 46684166 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005084.3 -1 reviewed p.L111I 0.999 350 0% 153 49% 1 0% possibly_damaging(0.803) tolerated(0.11) deleterious(0.574) HMMPfam_PAF-AH_p_II,superfamily_SSF53474 MEP1A 4224 genome.wustl.edu 37 6 46787435 46787435 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005588.2 +1 validated p.L184I 0.002 683 0% 82 43.9% 0 - benign(0.004) tolerated(0.62) neutral(0.004) HMMPfam_Astacin,HMMSmart_ZnMc,superfamily_SSF55486 GPR116 221395 genome.wustl.edu 37 6 46824603 46824603 + Splice_Site SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098518.1 -1 validated e17+1 1.000 150 0% 148 39.9% 0 - - - - - GPR116 221395 genome.wustl.edu 37 6 46839601 46839601 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098518.1 -1 validated p.K464Q 0.304 399 0% 85 47.1% 0 - benign(0.004) tolerated(0.21) neutral(0.044) superfamily_Immunoglobulin GPR110 266977 genome.wustl.edu 37 6 46988506 46988506 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153840.2 -1 validated p.R191I 0.006 277 0% 94 36.2% 0 - possibly_damaging(0.806) tolerated(0.05) deleterious(0.649) HMMPfam_SEA,superfamily_SEA domain TNFRSF21 27242 genome.wustl.edu 37 6 47251903 47251903 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014452.3 -1 reviewed p.Q338 0.994 229 0% 126 45.2% 27 51.8% - - - NULL GPR111 222611 genome.wustl.edu 37 6 47649914 47649914 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153839.6 +1 validated p.A472V 0.989 203 0.5% 67 37.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_2 GPR115 221393 genome.wustl.edu 37 6 47682676 47682676 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153838.3 +1 validated p.P565 0.995 169 0% 78 43.6% 0 - - - - HMMPfam_7tm_2 PTCHD4 442213 genome.wustl.edu 37 6 47846512 47846512 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013732.3 -1 validated p.L673I 1.000 128 0% 37 45.9% 0 - benign(0.003) deleterious(0.01) neutral(0.406) HMMPfam_Patched,superfamily_SSF82866 PTCHD4 442213 genome.wustl.edu 37 6 47846660 47846660 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013732.3 -1 validated p.F623L 1.000 136 0% 39 43.6% 0 - possibly_damaging(0.559) tolerated(0.34) neutral(0.213) HMMPfam_Patched,superfamily_SSF82866 PTCHD4 442213 genome.wustl.edu 37 6 47846804 47846804 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013732.3 -1 validated p.I575 1.000 114 0% 33 48.5% 0 - - - - HMMPfam_Patched CENPQ 55166 genome.wustl.edu 37 6 49456143 49456143 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018132.3 +1 validated p.L186M 0.018 77 0% 93 58.1% 16 37.5% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL CRISP2 7180 genome.wustl.edu 37 6 49660590 49660590 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142407.1 -1 validated p.L210I 0.004 187 0% 44 50% 0 - benign(0.012) tolerated(0.18) neutral(0.057) HMMPfam_Crisp TFAP2D 83741 genome.wustl.edu 37 6 50683133 50683133 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172238.3 +1 validated p.N115S 1.000 371 0% 101 35.6% 0 - benign(0.253) tolerated(0.45) neutral(0.038) NULL EFHC1 114327 genome.wustl.edu 37 6 52343939 52343939 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018100.3 +1 reviewed p.I461 1.000 216 0% 58 43.1% 15 60% - - - HMMSmart_SM00676,HMMPfam_DUF1126 EFHC1 114327 genome.wustl.edu 37 6 52355035 52355035 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018100.3 +1 reviewed p.R580C 0.001 225 0% 61 49.2% 19 42.1% probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_efhand,superfamily_EF-hand TRAM2 9697 genome.wustl.edu 37 6 52368059 52368059 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012288.3 -1 reviewed p.E350A 1.000 172 0% 166 44% 5 40% probably_damaging(0.982) tolerated(0.14) deleterious(0.676) NULL ICK 22858 genome.wustl.edu 37 6 52876592 52876592 + Nonsense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014920.3 -1 reviewed p.Y489* 1.000 96 0% 37 45.9% 11 27.2% - - - NULL LRRC1 55227 genome.wustl.edu 37 6 53764614 53764614 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018214.4 +1 validated p.E238* 1.000 271 0% 248 41.1% 13 15.3% - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like LRRC1 55227 genome.wustl.edu 37 6 53778706 53778706 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018214.4 +1 validated p.R349W 1.000 73 0% 19 42.1% 16 18.7% probably_damaging(0.991) tolerated(0.18) deleterious(0.500) HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like MLIP 90523 genome.wustl.edu 37 6 53989351 53989351 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138569.2 +1 validated p.E100D 0.004 103 0% 43 39.5% 0 - benign(0.021) tolerated(0.08) neutral(0.301) NULL TINAG 27283 genome.wustl.edu 37 6 54191636 54191636 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014464.3 +1 validated p.M182I 1.000 203 0% 77 51.9% 0 - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) superfamily_Cysteine proteinases TINAG 27283 genome.wustl.edu 37 6 54212284 54212284 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014464.3 +1 validated p.D290N 0.997 165 0.6% 19 31.6% 0 - possibly_damaging(0.494) deleterious(0.01) deleterious(0.570) HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases HCRTR2 3062 genome.wustl.edu 37 6 55128616 55128616 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001526.3 +1 reviewed p.R253Q 1.000 134 0% 52 50% 0 - benign(0.004) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_SSF81321 HCRTR2 3062 genome.wustl.edu 37 6 55145210 55145210 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001526.3 +1 reviewed p.A358V 1.000 325 0% 116 50% 0 - probably_damaging(0.966) deleterious(0.01) deleterious(0.814) HMMPfam_7tm_1,superfamily_SSF81321 HCRTR2 3062 genome.wustl.edu 37 6 55147036 55147036 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001526.3 +1 reviewed p.E373D 1.000 89 0% 30 36.7% 0 - benign(0.096) tolerated(0.12) neutral(0.268) superfamily_SSF81321 GFRAL 389400 genome.wustl.edu 37 6 55223712 55223712 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207410.2 +1 validated p.K243T 0.986 215 0% 17 52.9% 0 - probably_damaging(0.976) tolerated(0.15) deleterious(0.659) HMMPfam_GDNF,superfamily_SSF110035 BMP5 653 genome.wustl.edu 37 6 55638996 55638996 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021073.2 -1 reviewed p.G293E 1.000 224 0% 41 41.5% 0 - possibly_damaging(0.881) deleterious(0.05) deleterious(0.689) HMMPfam_TGFb_propeptide COL21A1 81578 genome.wustl.edu 37 6 55924986 55924986 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030820.3 -1 reviewed p.R813I 1.000 77 0% 20 60% 2 50% benign(0.019) tolerated(0.2) neutral(0.050) NULL COL21A1 81578 genome.wustl.edu 37 6 56032933 56032933 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030820.3 -1 reviewed p.E397* 1.000 171 0% 82 53.7% 3 33.3% - - - HMMSmart_SM00210 COL21A1 81578 genome.wustl.edu 37 6 56033044 56033044 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030820.3 -1 reviewed p.D360Y 0.917 176 0% 77 53.2% 2 100% benign(0.029) tolerated(0.06) neutral(0.324) HMMSmart_SM00210 COL21A1 81578 genome.wustl.edu 37 6 56035610 56035610 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030820.3 -1 reviewed p.R288I 1.000 128 0% 129 34.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00210 COL21A1 81578 genome.wustl.edu 37 6 56044911 56044911 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030820.3 -1 reviewed p.P35 0.352 66 0% 28 35.7% 1 0% - - - HMMSmart_SM00327,superfamily_vWA-like DST 667 genome.wustl.edu 37 6 56330936 56330936 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015548.4 -1 reviewed p.R4920C 1.000 236 0% 83 38.6% 134 32% probably_damaging(1) - - HMMPfam_GAS2,HMMSmart_SM00243 DST 667 genome.wustl.edu 37 6 56340980 56340980 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015548.4 -1 reviewed p.I4654 0.550 224 0% 80 55% 53 66% - - - HMMPfam_Spectrin,HMMSmart_SM00150 DST 667 genome.wustl.edu 37 6 56401726 56401726 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015548.4 -1 reviewed p.E2918* 1.000 208 0% 105 35.2% 13 23% - - - HMMPfam_Spectrin,HMMSmart_SM00150 DST 667 genome.wustl.edu 37 6 56464965 56464965 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015548.4 -1 reviewed p.L1243I 1.000 259 0% 68 39.7% 0 - probably_damaging(0.979) - - HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56469027 56469027 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000370769 -1 known p.E3256* 0.958 88 0% 44 31.8% 0 - - - - NULL DST 667 genome.wustl.edu 37 6 56481246 56481246 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001723.5 -1 reviewed p.S2340Y 0.998 113 0% 66 42.4% 1 100% benign(0.016) deleterious(0.01) neutral(0.406) HMMPfam_Plectin,HMMSmart_PLEC DST 667 genome.wustl.edu 37 6 56765400 56765400 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000370754 -1 known p.R79Q 0.994 47 0% 59 47.5% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain PHF3 23469 genome.wustl.edu 37 6 64408241 64408241 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015153.2 +1 provisional p.D937Y 1.000 78 0% 43 41.9% 11 45.4% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510 PHF3 23469 genome.wustl.edu 37 6 64422254 64422254 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015153.2 +1 provisional p.E1590D 0.716 75 0% 34 32.4% 26 69.2% probably_damaging(0.973) deleterious(0) deleterious(0.859) NULL EYS 346007 genome.wustl.edu 37 6 64436444 64436444 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142800.1 -1 reviewed p.F2734C 1.000 102 0% 51 41.2% 0 - probably_damaging(0.997) - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EYS 346007 genome.wustl.edu 37 6 64694365 64694365 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000398580 -1 known p.S94L 0.716 232 0% 27 40.7% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 65301089 65301089 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142800.1 -1 reviewed p.A1557 1.000 66 0% 10 40% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 65622436 65622436 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142800.1 -1 reviewed p.R861I 0.978 155 0% 93 40.9% 0 - possibly_damaging(0.681) - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin EYS 346007 genome.wustl.edu 37 6 65622579 65622579 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142800.1 -1 reviewed p.C813 1.000 126 0% 73 42.5% 0 - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin EYS 346007 genome.wustl.edu 37 6 66005878 66005878 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142800.1 -1 reviewed p.R634I 0.001 286 0% 33 45.5% 0 - unknown(0) - - NULL BAI3 577 genome.wustl.edu 37 6 69348730 69348730 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001704.2 +1 reviewed p.C55R 1.000 74 0% 97 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BAI3 577 genome.wustl.edu 37 6 69949041 69949041 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001704.2 +1 reviewed p.I913L 1.000 211 0% 44 40.9% 0 - benign(0.34) deleterious(0) deleterious(0.552) HMMPfam_7tm_2 BAI3 577 genome.wustl.edu 37 6 70042872 70042872 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001704.2 +1 reviewed p.L1054I 1.000 218 0% 94 38.3% 0 - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) HMMPfam_7tm_2 BAI3 577 genome.wustl.edu 37 6 70071009 70071009 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001704.2 +1 reviewed p.Y1282H 1.000 100 0% 20 40% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BAI3 577 genome.wustl.edu 37 6 70071364 70071364 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001704.2 +1 reviewed p.R1400I 1.000 126 0% 26 38.5% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL BAI3 577 genome.wustl.edu 37 6 70098650 70098650 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001704.2 +1 reviewed p.Y1479C 1.000 234 0% 38 42.1% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL LMBRD1 55788 genome.wustl.edu 37 6 70451712 70451712 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018368.3 -1 reviewed p.V177 1.000 120 0% 166 47.6% 12 50% - - - HMMPfam_LMBR1 COL19A1 1310 genome.wustl.edu 37 6 70608916 70608916 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001858.4 +1 reviewed e2+2 1.000 77 0% 120 40% 0 - - - - - COL19A1 1310 genome.wustl.edu 37 6 70916862 70916862 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001858.4 +1 reviewed p.P1105T 1.000 37 0% 18 55.6% 0 - probably_damaging(0.959) tolerated(0.52) neutral(0.411) NULL COL9A1 1297 genome.wustl.edu 37 6 70993224 70993224 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000370499 -1 known p.E262* 0.000 18 0% 20 45% 0 - - - - NULL COL9A1 1297 genome.wustl.edu 37 6 71004007 71004007 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001851.4 -1 reviewed p.V187M 0.996 137 0% 45 46.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_TSPN,superfamily_ConA_like_lec_gl COL9A1 1297 genome.wustl.edu 37 6 71004056 71004056 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001851.4 -1 reviewed p.S170 0.028 111 0% 48 45.8% 0 - - - - HMMSmart_TSPN,superfamily_ConA_like_lec_gl COL9A1 1297 genome.wustl.edu 37 6 71004213 71004213 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001851.4 -1 reviewed p.R118Q 1.000 110 0% 51 56.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_TSPN,superfamily_ConA_like_lec_gl COL9A1 1297 genome.wustl.edu 37 6 71011774 71011774 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001851.4 -1 reviewed p.K6N 1.000 68 0% 36 11.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL FAM135A 57579 genome.wustl.edu 37 6 71234323 71234323 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000418814 +1 known p.Q512H 1.000 29 0% 26 38.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SMAP1 60682 genome.wustl.edu 37 6 71464750 71464750 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001044305.1 +1 reviewed p.R107Q 1.000 78 0% 38 42.1% 35 42.8% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain RIMS1 22999 genome.wustl.edu 37 6 72806727 72806727 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014989.4 +1 reviewed p.G107 0.221 228 0% 77 41.6% 0 - - - - superfamily_FYVE/PHD zinc finger RIMS1 22999 genome.wustl.edu 37 6 72889594 72889594 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014989.4 +1 reviewed p.S263Y 1.000 18 0% 38 57.9% 0 - possibly_damaging(0.819) tolerated(0.05) deleterious(0.655) NULL RIMS1 22999 genome.wustl.edu 37 6 72892850 72892850 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014989.4 +1 reviewed p.K559R 1.000 6 0.000 7 0.571 0 - probably_damaging(0.971) tolerated(0.38) neutral(0.430) NULL RIMS1 22999 genome.wustl.edu 37 6 72960724 72960724 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014989.4 +1 reviewed p.E825* 1.000 141 0.7% 77 37.7% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RIMS1 22999 genome.wustl.edu 37 6 72961033 72961033 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014989.4 +1 reviewed p.R887Q 1.000 97 0% 27 51.9% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL RIMS1 22999 genome.wustl.edu 37 6 72962530 72962530 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014989.4 +1 reviewed p.P922H 1.000 344 0% 54 31.5% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL KCNQ5 56479 genome.wustl.edu 37 6 73787128 73787128 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019842.3 +1 reviewed p.L234I 1.000 210 0% 58 41.4% 0 - possibly_damaging(0.895) tolerated(0.22) neutral(0.395) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels DDX43 55510 genome.wustl.edu 37 6 74118991 74118991 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018665.2 +1 reviewed p.K400N 0.988 223 0% 230 45.2% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) PatternScan_DEAD_ATP_HELICASE,HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 COL12A1 1303 genome.wustl.edu 37 6 75797452 75797452 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004370.5 -1 reviewed p.E3008K 1.000 147 0% 62 37.1% 38 18.4% unknown(0) - - NULL COL12A1 1303 genome.wustl.edu 37 6 75864236 75864236 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004370.5 -1 reviewed p.K1154T 1.000 124 0% 30 23.3% 4 50% benign(0.001) - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL12A1 1303 genome.wustl.edu 37 6 75899393 75899393 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004370.5 -1 reviewed p.R178I 1.000 140 0% 45 48.9% 1 0% probably_damaging(1) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like TMEM30A 55754 genome.wustl.edu 37 6 75965984 75965984 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018247.3 -1 validated p.R307Q 1.000 121 0% 52 32.7% 137 43.7% possibly_damaging(0.727) tolerated(0.21) neutral(0.308) HMMPfam_CDC50 FILIP1 27145 genome.wustl.edu 37 6 76023855 76023855 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015687.2 -1 validated p.V565L 1.000 311 0% 187 39% 5 80% benign(0.071) tolerated(0.2) neutral(0.054) NULL FILIP1 27145 genome.wustl.edu 37 6 76024398 76024398 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015687.2 -1 validated p.R384* 1.000 403 0% 228 44.7% 7 42.8% - - - HMMPfam_CortBP2 FILIP1 27145 genome.wustl.edu 37 6 76072502 76072502 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015687.2 -1 validated p.E136D 0.923 80 0% 63 33.3% 4 75% benign(0) tolerated(0.37) neutral(0.019) HMMPfam_CortBP2 SENP6 26054 genome.wustl.edu 37 6 76343433 76343433 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015571.2 +1 validated p.K115T 1.000 42 0% 37 40.5% 27 51.8% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL MYO6 4646 genome.wustl.edu 37 6 76558136 76558136 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004999.3 +1 reviewed p.T322 0.983 177 0% 98 44.9% 25 52% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases PHIP 55023 genome.wustl.edu 37 6 79665344 79665344 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017934.5 -1 validated p.L1280V 0.160 68 0% 70 50% 9 44.4% possibly_damaging(0.72) tolerated(0.5) neutral(0.271) superfamily_Bromodomain LCA5 167691 genome.wustl.edu 37 6 80202352 80202352 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122769.2 -1 reviewed p.E291* 1.000 72 0% 101 38.6% 0 - - - - NULL TTK 7272 genome.wustl.edu 37 6 80749505 80749505 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003318.4 +1 reviewed p.I741M 1.000 101 0% 31 48.4% 31 48.3% benign(0.073) tolerated(0.07) neutral(0.324) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase IBTK 25998 genome.wustl.edu 37 6 82909918 82909918 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015525.2 -1 reviewed p.R989C 1.000 303 0.3% 158 51.9% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IBTK 25998 genome.wustl.edu 37 6 82923995 82923995 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015525.2 -1 reviewed p.R718I 1.000 300 0% 238 44.1% 9 0% benign(0.422) deleterious(0.01) deleterious(0.542) HMMSmart_SM00225 IBTK 25998 genome.wustl.edu 37 6 82924320 82924320 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015525.2 -1 reviewed p.E610* 1.000 104 0% 99 46.5% 7 0% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB IBTK 25998 genome.wustl.edu 37 6 82927730 82927730 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015525.2 -1 reviewed p.E458G 1.000 405 0.2% 194 39.7% 6 83.3% probably_damaging(1) tolerated(0.17) deleterious(0.559) superfamily_RCC1/BLIP-II DOPEY1 23033 genome.wustl.edu 37 6 83829501 83829501 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015018.2 +1 validated p.R305S 1.000 126 0% 81 44.4% 2 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_Dopey_N DOPEY1 23033 genome.wustl.edu 37 6 83839056 83839056 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015018.2 +1 validated p.N724H 0.998 132 0% 59 32.2% 1 100% benign(0.115) tolerated(0.08) neutral(0.309) NULL DOPEY1 23033 genome.wustl.edu 37 6 83848134 83848134 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015018.2 +1 validated p.S1458Y 1.000 64 0% 37 48.6% 3 66.6% probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL DOPEY1 23033 genome.wustl.edu 37 6 83848346 83848346 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015018.2 +1 validated p.L1529I 1.000 97 0% 48 41.7% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DOPEY1 23033 genome.wustl.edu 37 6 83877857 83877857 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015018.2 +1 validated p.D2457Y 1.000 77 0% 36 47.2% 28 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNAP91 9892 genome.wustl.edu 37 6 84302258 84302258 + Splice_Site SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014841.2 -1 validated e20-1 1.000 51 0% 30 36.7% 0 - - - - - SNAP91 9892 genome.wustl.edu 37 6 84303209 84303209 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014841.2 -1 validated p.D562Y 1.000 118 0% 69 50.7% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL KIAA1009 22832 genome.wustl.edu 37 6 84836166 84836166 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014895.2 -1 validated p.F1312 0.053 422 0% 198 43.4% 16 37.5% - - - NULL KIAA1009 22832 genome.wustl.edu 37 6 84859327 84859327 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014895.2 -1 validated p.S1242Y 1.000 321 0% 64 34.4% 12 41.6% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL SNX14 57231 genome.wustl.edu 37 6 86239919 86239919 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153816.3 -1 reviewed p.E629* 1.000 135 0% 86 31.4% 13 7.6% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain SNX14 57231 genome.wustl.edu 37 6 86253399 86253399 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153816.3 -1 reviewed p.I396M 1.000 42 0% 94 50% 13 76.9% possibly_damaging(0.437) tolerated(0.34) neutral(0.165) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS SNX14 57231 genome.wustl.edu 37 6 86267769 86267769 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153816.3 -1 reviewed p.P187S 1.000 177 0% 191 40.3% 7 0% benign(0.015) tolerated(0.05) neutral(0.346) HMMPfam_PXA,HMMSmart_SM00313 SYNCRIP 10492 genome.wustl.edu 37 6 86329085 86329085 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006372.4 -1 validated p.I353M 1.000 243 0% 213 45.1% 211 51.6% possibly_damaging(0.822) tolerated(0.11) deleterious(0.583) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SYNCRIP 10492 genome.wustl.edu 37 6 86333812 86333812 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006372.4 -1 validated p.R229C 1.000 159 0% 129 33.3% 134 37.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HTR1E 3354 genome.wustl.edu 37 6 87725941 87725941 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000865.2 +1 validated p.L297M 0.963 170 0% 77 49.4% 0 - probably_damaging(0.999) tolerated(0.46) deleterious(0.502) HMMPfam_7tm_1,superfamily_SSF81321 ZNF292 23036 genome.wustl.edu 37 6 87967172 87967172 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015021.1 +1 validated p.F1275 0.833 184 0% 85 45.9% 13 30.7% - - - NULL ZNF292 23036 genome.wustl.edu 37 6 87967728 87967728 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015021.1 +1 validated p.R1461C 1.000 86 0% 31 32.3% 12 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF292 23036 genome.wustl.edu 37 6 87969052 87969052 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015021.1 +1 validated p.F1902C 1.000 29 0% 10 70% 12 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF292 23036 genome.wustl.edu 37 6 87970209 87970209 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015021.1 +1 validated p.H2288N 1.000 44 0% 26 46.2% 12 50% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL RARS2 57038 genome.wustl.edu 37 6 88231220 88231220 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020320.3 -1 reviewed p.R333* 0.999 237 0% 172 43% 40 30% - - - HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase SPACA1 81833 genome.wustl.edu 37 6 88776024 88776024 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030960.2 +1 reviewed p.D286Y 1.000 137 0% 113 47.8% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL RNGTT 8732 genome.wustl.edu 37 6 89324108 89324108 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003800.3 -1 validated p.K505Q 1.000 519 0% 214 40.2% 13 53.8% possibly_damaging(0.934) deleterious(0.04) deleterious(0.729) HMMPfam_mRNA_cap_C,superfamily_Nucleic acid-binding proteins MDN1 23195 genome.wustl.edu 37 6 90357851 90357851 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014611.1 -1 provisional p.V5432A 1.000 273 0% 166 50.6% 24 58.3% unknown(0) tolerated(0.13) - HMMSmart_SM00327,superfamily_vWA-like MDN1 23195 genome.wustl.edu 37 6 90365651 90365651 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014611.1 -1 provisional p.R5108C 1.000 99 0% 30 43.3% 19 26.3% unknown(0) deleterious(0) - NULL MDN1 23195 genome.wustl.edu 37 6 90374243 90374243 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014611.1 -1 provisional p.F4733 1.000 253 0% 178 42.1% 21 57.1% - - - NULL MDN1 23195 genome.wustl.edu 37 6 90408732 90408732 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014611.1 -1 provisional p.S3007Y 0.505 53 0% 42 57.1% 4 50% benign(0.179) tolerated(1) neutral(0.017) NULL MDN1 23195 genome.wustl.edu 37 6 90428536 90428536 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014611.1 -1 provisional p.A2091T 1.000 192 0% 60 48.3% 1 0% probably_damaging(0.994) tolerated(0.61) neutral(0.456) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90450000 90450000 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014611.1 -1 provisional p.R1516C 1.000 243 0% 155 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases GJA10 84694 genome.wustl.edu 37 6 90604484 90604484 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032602.1 +1 validated p.R99 0.992 315 0% 129 48.8% 0 - - - - HMMPfam_Connexin LOC100129711 100129711 genome.wustl.edu 37 6 90661480 90661480 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001715261.1 +1 model p.E70* 1.000 184 0% 56 53.6% 2 0% probably_damaging(0.967) tolerated(0.07) deleterious(0.728) NULL FHL5 9457 genome.wustl.edu 37 6 97051543 97051543 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020482.4 +1 reviewed p.K18N 1.000 221 0% 68 44.1% 0 - benign(0.111) deleterious(0.03) neutral(0.373) superfamily_SSF57716 MMS22L 253714 genome.wustl.edu 37 6 97613213 97613213 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198468.2 -1 predicted p.L1044I 0.029 389 0.3% 31 35.5% 8 62.5% benign(0.253) tolerated(0.51) neutral(0.035) NULL FBXL4 26235 genome.wustl.edu 37 6 99374767 99374767 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012160.3 -1 reviewed p.N33T 1.000 344 0% 160 38.8% 7 57.1% benign(0) tolerated(0.43) neutral(0.013) NULL PNISR 25957 genome.wustl.edu 37 6 99848946 99848946 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015491.1 -1 validated p.R630C 1.000 304 0% 243 45.3% 55 52.7% possibly_damaging(0.936) deleterious(0.02) deleterious(0.764) NULL PNISR 25957 genome.wustl.edu 37 6 99856109 99856109 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015491.1 -1 validated p.E238K 1.000 128 0% 80 51.2% 32 46.8% benign(0.224) deleterious(0) neutral(0.467) NULL CCNC 892 genome.wustl.edu 37 6 99999759 99999759 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005190.3 -1 reviewed p.F120C 1.000 45 0% 33 45.5% 73 47.9% probably_damaging(0.958) deleterious(0.03) deleterious(0.766) HMMSmart_SM00385,superfamily_Cyclin-like PRDM13 59336 genome.wustl.edu 37 6 100056651 100056651 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021620.3 +1 validated p.S60L 1.000 20 0% 28 42.9% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMSmart_SET MCHR2 84539 genome.wustl.edu 37 6 100368963 100368963 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040179.1 -1 validated p.I292 1.000 510 0.2% 133 45.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ASCC3 10973 genome.wustl.edu 37 6 101037618 101037618 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006828.2 -1 validated p.T1814 0.891 76 0% 45 53.3% 26 61.5% - - - HMMPfam_Sec63,HMMSmart_SEC63 ASCC3 10973 genome.wustl.edu 37 6 101090484 101090484 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006828.2 -1 validated p.L1292I 1.000 173 0% 64 37.5% 12 50% probably_damaging(0.995) tolerated(0.14) deleterious(0.707) superfamily_SSF52540 ASCC3 10973 genome.wustl.edu 37 6 101100728 101100728 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006828.2 -1 validated p.V954G 1.000 112 0% 61 36.1% 12 50% benign(0.353) deleterious(0) deleterious(0.556) NULL ASCC3 10973 genome.wustl.edu 37 6 101296418 101296418 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006828.2 -1 validated p.R136Q 0.997 73 1.4% 32 53.1% 8 50% benign(0.07) tolerated(0.65) neutral(0.008) NULL GRIK2 2898 genome.wustl.edu 37 6 102376391 102376391 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021956.4 +1 reviewed p.A657T 1.000 421 0% 50 52% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II HACE1 57531 genome.wustl.edu 37 6 105297081 105297081 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020771.3 -1 validated p.G88* 1.000 128 0% 114 50.9% 4 50% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POPDC3 64208 genome.wustl.edu 37 6 105609758 105609758 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022361.4 -1 reviewed p.K9N 0.843 96 0% 142 47.9% 0 - benign(0.071) tolerated(0.41) neutral(0.020) NULL POPDC3 64208 genome.wustl.edu 37 6 105609851 105609851 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_024539.1 -1 validated NULL 0.001 38 0% 62 46.8% 0 - - - - - PRDM1 639 genome.wustl.edu 37 6 106553555 106553555 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001198.3 +1 reviewed p.D507G 1.000 20 0% 12 33.3% 2 100% benign(0.024) deleterious(0) neutral(0.446) NULL LOC100287304 100287304 genome.wustl.edu 37 6 106553754 106553754 + Nonstop_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342660.1 -1 model p.*224L 0.912 45 0% 22 40.9% 3 33.3% - - - NULL RTN4IP1 84816 genome.wustl.edu 37 6 107019897 107019897 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032730.4 -1 reviewed p.G389* 1.000 168 0% 165 49.1% 3 33.3% - - - NULL BEND3 57673 genome.wustl.edu 37 6 107420472 107420472 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080450.2 -1 validated p.F6L 1.000 220 0% 420 42.4% 2 50% benign(0) tolerated(0.82) neutral(0.001) NULL SOBP 55084 genome.wustl.edu 37 6 107908371 107908371 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018013.3 +1 validated p.E221K 1.000 110 0% 24 37.5% 0 - possibly_damaging(0.664) tolerated(0.06) deleterious(0.557) NULL SOBP 55084 genome.wustl.edu 37 6 107956461 107956461 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018013.3 +1 validated p.N805D 1.000 19 0% 10 60% 0 - possibly_damaging(0.643) tolerated(0.21) neutral(0.270) NULL SEC63 11231 genome.wustl.edu 37 6 108197808 108197808 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007214.4 -1 reviewed p.S665F 1.000 290 0% 134 44.8% 76 1.3% benign(0.104) deleterious(0) neutral(0.453) HMMPfam_Sec63,HMMSmart_SEC63 SEC63 11231 genome.wustl.edu 37 6 108197813 108197813 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007214.4 -1 reviewed p.L663 0.998 265 0% 123 45.5% 74 86.4% - - - HMMPfam_Sec63,HMMSmart_SEC63 SEC63 11231 genome.wustl.edu 37 6 108214703 108214703 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007214.4 -1 reviewed p.N553D 1.000 393 0% 241 38.2% 34 0% benign(0.29) tolerated(0.63) neutral(0.093) HMMSmart_SEC63 SEC63 11231 genome.wustl.edu 37 6 108215092 108215092 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007214.4 -1 reviewed p.E484* 1.000 86 0% 35 45.7% 46 0% - - - HMMPfam_Sec63,HMMSmart_SEC63 NR2E1 7101 genome.wustl.edu 37 6 108508564 108508564 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003269.3 +1 validated p.S352Y 1.000 339 0% 199 35.2% 0 - possibly_damaging(0.92) tolerated(0.81) neutral(0.371) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain ARMC2 84071 genome.wustl.edu 37 6 109274314 109274314 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032131.4 +1 validated p.E559* 1.000 186 0% 142 49.3% 0 - - - - superfamily_ARM-type_fold CEP57L1 285753 genome.wustl.edu 37 6 109467997 109467997 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083535.1 +1 validated p.I66S 1.000 54 0% 41 51.2% 7 42.8% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL PPIL6 285755 genome.wustl.edu 37 6 109748160 109748160 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173672.4 -1 validated p.F174C 1.000 207 0% 203 49.3% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like AKD1 221264 genome.wustl.edu 37 6 109827994 109827994 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000470564 -1 known p.S335L 0.459 45 0% 103 45.6% 0 - - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases AKD1 221264 genome.wustl.edu 37 6 109871483 109871483 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145128.2 -1 provisional p.R925I 0.777 267 0% 186 47.3% 0 - possibly_damaging(0.918) tolerated(0.2) neutral(0.417) NULL DDO 8528 genome.wustl.edu 37 6 110729610 110729610 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003649.2 -1 reviewed p.E98* 0.998 182 0% 165 44.2% 0 - - - - HMMPfam_DAO,superfamily_Nucleotide-binding domain RPF2 84154 genome.wustl.edu 37 6 111310216 111310216 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000454951 +1 known p.N9H 0.501 179 0% 249 46.2% 0 - possibly_damaging(0.886) - - HMMPfam_Brix REV3L 5980 genome.wustl.edu 37 6 111632449 111632449 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002912.3 -1 validated p.S2873Y 1.000 163 0% 190 40% 32 53.1% possibly_damaging(0.756) deleterious(0.01) deleterious(0.685) HMMPfam_DNA_pol_B,superfamily_DNA/RNA polymerases REV3L 5980 genome.wustl.edu 37 6 111726690 111726690 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002912.3 -1 validated p.R183Q 1.000 135 0% 65 52.3% 1 100% probably_damaging(0.999) - - superfamily_Ribonuclease H-like WISP3 8838 genome.wustl.edu 37 6 112382254 112382254 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198239.1 +1 reviewed p.E55* 0.007 296 0% 37 43.2% 0 - - - - NULL LAMA4 3910 genome.wustl.edu 37 6 112441603 112441603 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105206.1 -1 reviewed p.E1516D 1.000 207 0.5% 50 44% 2 0% probably_damaging(0.994) tolerated(0.76) neutral(0.453) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LAMA4 3910 genome.wustl.edu 37 6 112454030 112454030 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105206.1 -1 reviewed p.F1253L 0.998 171 0% 38 52.6% 2 0% benign(0.002) tolerated(0.61) neutral(0.004) superfamily_Concanavalin A-like lectins/glucanases LOC100128588 100128588 genome.wustl.edu 37 6 112647526 112647526 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001723020.1 -1 model p.I142 0.961 32 0% 30 53.3% 0 - - - - NULL LOC100128588 100128588 genome.wustl.edu 37 6 112647703 112647703 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001723020.1 -1 model p.D83E 0.998 26 0% 26 38.5% 0 - - - - NULL FRK 2444 genome.wustl.edu 37 6 116381388 116381388 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002031.2 -1 reviewed p.I29 0.713 127 0% 29 48.3% 1 0% - - - NULL DSE 29940 genome.wustl.edu 37 6 116758435 116758435 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080976.1 +1 reviewed p.L935R 0.999 48 0% 19 68.4% 3 33.3% probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL BET3L 100128327 genome.wustl.edu 37 6 116818143 116818143 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001139444.2 -1 validated p.E174K 0.999 643 0% 137 39.4% 0 - unknown(0) tolerated(0.14) - NULL FAM26E 254228 genome.wustl.edu 37 6 116833089 116833089 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153711.2 +1 validated p.F77C 1.000 75 0% 17 29.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RWDD1 51389 genome.wustl.edu 37 6 116910146 116910146 + Nonsense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015952.2 +1 validated p.K138* 1.000 41 0% 29 37.9% 74 29.7% - - - NULL RSPH4A 345895 genome.wustl.edu 37 6 116938279 116938279 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010892.2 +1 reviewed p.D165N 0.000 173 0% 110 48.2% 2 50% benign(0.008) deleterious(0) neutral(0.445) NULL GPRC6A 222545 genome.wustl.edu 37 6 117128027 117128027 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148963.2 -1 validated p.F281L 0.907 166 0% 46 58.7% 0 - probably_damaging(0.953) tolerated(0.25) neutral(0.433) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I RFX6 222546 genome.wustl.edu 37 6 117198958 117198958 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173560.2 +1 validated e2-1 1.000 45 0% 55 38.2% 0 - - - - - RFX6 222546 genome.wustl.edu 37 6 117243297 117243297 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173560.2 +1 validated p.E474* 1.000 154 0% 90 41.1% 0 - - - - NULL RFX6 222546 genome.wustl.edu 37 6 117243304 117243304 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173560.2 +1 validated p.R476I 1.000 154 0.6% 88 50% 0 - possibly_damaging(0.846) tolerated(0.31) neutral(0.352) NULL RFX6 222546 genome.wustl.edu 37 6 117252617 117252617 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173560.2 +1 validated p.S912Y 1.000 180 0% 41 41.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ROS1 6098 genome.wustl.edu 37 6 117662296 117662296 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002944.2 -1 reviewed e30+2 0.988 168 0% 45 37.8% 0 - - - - - ROS1 6098 genome.wustl.edu 37 6 117715847 117715847 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002944.2 -1 reviewed p.R304I 1.000 124 0% 56 32.1% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_SSF63825 ROS1 6098 genome.wustl.edu 37 6 117737435 117737435 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002944.2 -1 reviewed p.C72R 0.975 175 0% 43 37.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ROS1 6098 genome.wustl.edu 37 6 117746808 117746808 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002944.2 -1 reviewed p.I4 0.854 110 0% 42 31% 0 - - - - NULL CEP85L 387119 genome.wustl.edu 37 6 118886793 118886793 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042475.2 -1 validated p.N307H 1.000 139 0% 71 39.4% 3 66.6% probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL FAM184A 79632 genome.wustl.edu 37 6 119338003 119338003 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024581.4 -1 validated p.S480Y 0.999 230 0% 290 45.2% 1 0% probably_damaging(0.955) deleterious(0.02) deleterious(0.782) NULL C6orf170 221322 genome.wustl.edu 37 6 121602694 121602694 + Frame_Shift_Del DEL T T - novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152730.4 -1 validated p.N535fs 0.997 - - - - - - - - - NULL SERINC1 57515 genome.wustl.edu 37 6 122775306 122775306 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020755.2 -1 provisional p.T147 1.000 45 0% 39 53.8% 50 44% - - - HMMPfam_Serinc SMPDL3A 10924 genome.wustl.edu 37 6 123130270 123130270 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006714.3 +1 validated p.A360V 1.000 98 0% 111 43.2% 4 50% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) NULL TRDN 10345 genome.wustl.edu 37 6 123577012 123577012 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006073.2 -1 validated p.V636F 0.741 31 0% 32 40.6% 0 - unknown(0) deleterious(0) - NULL TRDN 10345 genome.wustl.edu 37 6 123592306 123592306 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006073.2 -1 validated p.K566N 1.000 159 0% 57 31.6% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL TRDN 10345 genome.wustl.edu 37 6 123869681 123869681 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006073.2 -1 validated p.I103 1.000 157 0% 48 52.1% 0 - - - - HMMPfam_Triadin RNF217 154214 genome.wustl.edu 37 6 125404022 125404022 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152553.2 +1 provisional p.I269M 1.000 255 0% 99 40.4% 6 83.3% possibly_damaging(0.598) deleterious(0.01) deleterious(0.613) NULL TPD52L1 7164 genome.wustl.edu 37 6 125541215 125541215 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000392484 +1 known e2-2 0.127 151 0% 43 37.2% 0 - - - - - TRMT11 60487 genome.wustl.edu 37 6 126359982 126359982 + Nonstop_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031712.2 +1 validated p.*464W 0.968 90 0% 47 40.4% 8 25% - - - NULL LOC100287918 100287918 genome.wustl.edu 37 6 127981416 127981416 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342669.1 +1 model p.I152S 0.992 122 0% 78 16.7% 0 - - - - NULL THEMIS 387357 genome.wustl.edu 37 6 128040917 128040917 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010923.2 -1 reviewed p.D604N 0.698 518 0% 41 53.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL THEMIS 387357 genome.wustl.edu 37 6 128135026 128135026 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010923.2 -1 reviewed p.D254Y 1.000 198 0% 56 16.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL THEMIS 387357 genome.wustl.edu 37 6 128150743 128150743 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010923.2 -1 reviewed p.R196I 1.000 156 0% 135 47.4% 0 - probably_damaging(0.975) tolerated(0.19) neutral(0.466) NULL PTPRK 5796 genome.wustl.edu 37 6 128403714 128403714 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135648.1 -1 validated p.N549H 1.000 306 0.3% 26 34.6% 18 50% benign(0.006) tolerated(0.07) neutral(0.319) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PTPRK 5796 genome.wustl.edu 37 6 128643330 128643330 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135648.1 -1 validated p.G117* 0.969 260 0% 40 25% 10 10% - - - HMMPfam_MAM,HMMSmart_MAM PTPRK 5796 genome.wustl.edu 37 6 128718777 128718777 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135648.1 -1 validated p.D53N 1.000 139 0% 74 48.6% 13 46.1% benign(0.003) tolerated(0.45) neutral(0.012) HMMPfam_MAM,HMMSmart_MAM LAMA2 3908 genome.wustl.edu 37 6 129380932 129380932 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000426.3 +1 reviewed p.R96K 1.000 260 0.4% 91 46.2% 0 - benign(0.072) tolerated(0.07) neutral(0.324) HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like LAMA2 3908 genome.wustl.edu 37 6 129636697 129636697 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000426.3 +1 reviewed p.V1211A 0.000 201 0% 94 43.6% 1 0% benign(0) tolerated(0.49) neutral(0.011) superfamily_ConA_like_lec_gl LAMA2 3908 genome.wustl.edu 37 6 129712699 129712699 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000426.3 +1 reviewed p.R1712I 1.000 100 0% 86 38.4% 0 - benign(0.027) deleterious(0.05) neutral(0.347) superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I LAMA2 3908 genome.wustl.edu 37 6 129759863 129759863 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000426.3 +1 reviewed p.R2014I 0.407 103 0% 36 30.6% 0 - possibly_damaging(0.92) tolerated(0.07) deleterious(0.690) superfamily_ConA_like_lec_gl ARHGAP18 93663 genome.wustl.edu 37 6 129920427 129920427 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033515.2 -1 validated p.K549N 1.000 225 0% 154 43.5% 10 30% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL ARHGAP18 93663 genome.wustl.edu 37 6 129929168 129929168 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033515.2 -1 validated p.F384L 1.000 32 0% 27 40.7% 8 62.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP TMEM244 253582 genome.wustl.edu 37 6 130152480 130152480 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010876.1 -1 provisional p.S124L 0.000 69 0% 38 52.6% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL TMEM244 253582 genome.wustl.edu 37 6 130154728 130154728 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010876.1 -1 provisional p.L66I 0.992 198 0% 67 46.3% 0 - possibly_damaging(0.875) tolerated(0.25) neutral(0.377) NULL SAMD3 154075 genome.wustl.edu 37 6 130475988 130475988 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017373.2 -1 validated p.F335L 0.929 87 0% 79 43% 0 - probably_damaging(0.998) tolerated(0.43) deleterious(0.488) NULL SAMD3 154075 genome.wustl.edu 37 6 130476130 130476130 + Nonsense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000437477 -1 known p.Y34* 1.000 238 0% 168 39.9% 0 - possibly_damaging(0.441) deleterious(0.04) deleterious(0.493) NULL TMEM200A 114801 genome.wustl.edu 37 6 130762056 130762056 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052913.2 +1 provisional p.I163 1.000 139 0% 34 41.2% 9 0% - - - NULL MED23 9439 genome.wustl.edu 37 6 131911567 131911567 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004830.2 -1 reviewed p.V1234 0.006 51 0% 55 47.3% 12 25% - - - NULL OR2A4 79541 genome.wustl.edu 37 6 132022023 132022023 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030908.1 -1 provisional p.I173M 0.000 258 0% 195 25.6% 0 - possibly_damaging(0.613) deleterious(0.01) deleterious(0.618) HMMPfam_7tm_1,superfamily_SSF81321 CTAGE9 643854 genome.wustl.edu 37 6 132030398 132030398 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145659.1 -1 provisional p.P587L 0.000 1065 0.1% 441 15% 4 0% benign(0.017) tolerated(0.06) neutral(0.323) NULL ENPP3 5169 genome.wustl.edu 37 6 132059281 132059281 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005021.3 +1 reviewed p.D760Y 1.000 156 0% 101 61.4% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_NUC,superfamily_SSF54060 ENPP1 5167 genome.wustl.edu 37 6 132182832 132182832 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006208.2 +1 reviewed p.K338T 0.824 122 0% 97 48.5% 2 0% possibly_damaging(0.736) tolerated(0.34) neutral(0.292) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP1 5167 genome.wustl.edu 37 6 132190590 132190590 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006208.2 +1 reviewed p.R456* 1.000 76 0% 52 53.8% 1 0% - - - HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core TAAR9 134860 genome.wustl.edu 37 6 132859727 132859727 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175057.3 +1 reviewed p.F100C 1.000 652 0% 98 55.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TAAR6 319100 genome.wustl.edu 37 6 132892124 132892124 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175067.1 +1 reviewed p.L222I 0.000 124 0% 55 45.5% 0 - benign(0.077) tolerated(0.39) neutral(0.021) HMMPfam_7tm_1,superfamily_SSF81321 TAAR5 9038 genome.wustl.edu 37 6 132910453 132910453 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003967.2 -1 validated p.L125I 0.306 343 0% 92 48.9% 0 - probably_damaging(0.959) deleterious(0.03) deleterious(0.767) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 TCF21 6943 genome.wustl.edu 37 6 134210615 134210615 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003206.3 +1 reviewed p.S27L 1.000 69 0% 41 31.7% 0 - benign(0.147) deleterious(0.04) neutral(0.362) NULL TBPL1 9519 genome.wustl.edu 37 6 134305528 134305528 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004865.2 +1 reviewed p.D99E 1.000 76 0% 44 40.9% 47 48.9% benign(0) tolerated(0.32) neutral(0.024) HMMPfam_TBP,superfamily_TATA-box binding protein-like TBPL1 9519 genome.wustl.edu 37 6 134305784 134305784 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004865.2 +1 reviewed p.F152L 1.000 93 0% 51 39.2% 50 52% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TBP,superfamily_TATA-box binding protein-like HBS1L 10767 genome.wustl.edu 37 6 135363201 135363201 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006620.3 -1 reviewed p.Y58C 1.000 181 0% 105 43.8% 19 47.3% benign(0) tolerated(0.15) neutral(0.241) HMMPfam_DUF1916,superfamily_HBS1-like domain BCLAF1 9774 genome.wustl.edu 37 6 136582522 136582522 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014739.2 -1 reviewed p.K880Q 1.000 646 0% 175 24% 111 49.5% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL BCLAF1 9774 genome.wustl.edu 37 6 136590683 136590683 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014739.2 -1 reviewed p.R704I 1.000 213 0% 70 11.4% 80 47.5% benign(0.006) deleterious(0.03) neutral(0.364) NULL BCLAF1 9774 genome.wustl.edu 37 6 136596815 136596815 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014739.2 -1 reviewed p.R569 1.000 187 0% 36 44.4% 79 44.3% - - - NULL BCLAF1 9774 genome.wustl.edu 37 6 136597401 136597401 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014739.2 -1 reviewed p.K421T 1.000 357 0% 125 17.6% 72 0% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL MAP3K5 4217 genome.wustl.edu 37 6 136913424 136913424 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005923.3 -1 reviewed p.D1038Y 1.000 75 0% 90 38.9% 4 0% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL MAP3K5 4217 genome.wustl.edu 37 6 136944051 136944051 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005923.3 -1 reviewed p.Y695 0.765 307 0.3% 148 14.2% 1 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase KIAA1244 57221 genome.wustl.edu 37 6 138559660 138559660 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020340.4 +1 validated p.T145 0.097 180 0% 24 41.7% 4 25% - - - NULL NHSL1 57224 genome.wustl.edu 37 6 138754047 138754047 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144060.1 -1 validated p.L479I 0.000 185 0% 61 44.3% 7 14.2% benign(0.041) tolerated(0.39) neutral(0.018) NULL ECT2L 345930 genome.wustl.edu 37 6 139159557 139159557 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077706.1 +1 validated p.R83H 1.000 154 0% 152 41.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383 GPR126 57211 genome.wustl.edu 37 6 142691640 142691640 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198569.2 +1 reviewed p.S260Y 0.792 213 0% 100 43% 1 0% benign(0.003) deleterious(0.04) neutral(0.349) superfamily_ConA_like_lec_gl GPR126 57211 genome.wustl.edu 37 6 142714135 142714135 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198569.2 +1 reviewed p.I453 1.000 113 0% 50 42% 1 0% - - - NULL GPR126 57211 genome.wustl.edu 37 6 142732441 142732441 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198569.2 +1 reviewed e18-1 0.976 270 0.4% 23 39.1% 0 - - - - - AIG1 51390 genome.wustl.edu 37 6 143605276 143605276 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016108.2 +1 validated p.I143 1.000 342 0% 54 40.7% 20 30% - - - HMMPfam_Far-17a_AIG1 UTRN 7402 genome.wustl.edu 37 6 144747467 144747467 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007124.2 +1 reviewed p.T150 0.004 125 0% 28 53.6% 1 0% - - - superfamily_Calponin-homology UTRN 7402 genome.wustl.edu 37 6 144759926 144759926 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007124.2 +1 reviewed p.Q429 1.000 81 0% 59 18.6% 2 0% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144768444 144768444 + Missense_Mutation SNP G G A rs181231692 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007124.2 +1 reviewed p.R571Q 1.000 189 0% 101 44.6% 2 50% probably_damaging(0.961) tolerated(0.31) neutral(0.431) HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144779923 144779923 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007124.2 +1 reviewed p.E768* 0.993 58 0% 44 38.6% 3 0% - - - HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 145051561 145051561 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007124.2 +1 reviewed p.F2626L 1.000 96 0% 32 56.2% 8 25% probably_damaging(0.973) tolerated(0.06) deleterious(0.738) HMMSmart_SPEC,superfamily_Spectrin FBXO30 84085 genome.wustl.edu 37 6 146127038 146127038 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032145.4 -1 reviewed p.A168 0.995 317 0% 101 51.5% 11 45.4% - - - NULL SHPRH 257218 genome.wustl.edu 37 6 146266555 146266555 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042683.2 -1 validated p.Y514D 1.000 197 0% 64 10.9% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases GRM1 2911 genome.wustl.edu 37 6 146719939 146719939 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000838.3 +1 reviewed p.W588* 1.000 180 0% 41 61% 1 0% - - - NULL ADGB 79747 genome.wustl.edu 37 6 146993501 146993501 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024694.3 +1 provisional p.E329* 0.987 84 0% 43 48.8% 0 - - - - HMMSmart_SM00230 ADGB 79747 genome.wustl.edu 37 6 146997466 146997466 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024694.3 +1 provisional p.D369N 0.890 177 0% 48 41.7% 0 - possibly_damaging(0.84) deleterious(0) deleterious(0.766) HMMSmart_SM00230 ADGB 79747 genome.wustl.edu 37 6 147022192 147022192 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024694.3 +1 provisional p.K565Q 0.000 307 0% 41 46.3% 0 - benign(0.071) tolerated(0.1) neutral(0.291) HMMSmart_SM00230 ADGB 79747 genome.wustl.edu 37 6 147061647 147061647 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024694.3 +1 provisional p.D981Y 1.000 124 0% 92 46.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADGB 79747 genome.wustl.edu 37 6 147106789 147106789 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024694.3 +1 provisional p.K1419T 0.261 270 0% 72 44.4% 0 - possibly_damaging(0.605) - - NULL TAB2 23118 genome.wustl.edu 37 6 149700040 149700040 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015093.4 +1 reviewed p.L330R 1.000 213 0% 97 30.9% 31 35.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SUMO4 387082 genome.wustl.edu 37 6 149721744 149721744 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002255.1 +1 reviewed p.P73S 1.000 107 0% 70 50% 0 - possibly_damaging(0.791) deleterious(0) deleterious(0.741) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 LATS1 9113 genome.wustl.edu 37 6 150001395 150001395 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004690.2 -1 reviewed p.R737* 1.000 161 0% 90 46.7% 6 16.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LATS1 9113 genome.wustl.edu 37 6 150005526 150005526 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004690.2 -1 reviewed p.R233S 1.000 279 0% 75 42.7% 12 83.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL RAET1G 353091 genome.wustl.edu 37 6 150240291 150240291 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001788.2 -1 provisional p.E173D 0.001 601 0.2% 417 40.8% 0 - benign(0.187) tolerated(0.34) neutral(0.041) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain ULBP3 79465 genome.wustl.edu 37 6 150386730 150386730 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024518.1 -1 provisional p.F144 0.000 100 0% 78 52.6% 7 57.1% - - - HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain PLEKHG1 57480 genome.wustl.edu 37 6 151055145 151055145 + Nonsense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029884.1 +1 provisional p.K110* 1.000 35 2.9% 40 47.5% 17 58.8% - - - superfamily_DBL homology domain (DH-domain) PLEKHG1 57480 genome.wustl.edu 37 6 151055190 151055190 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029884.1 +1 provisional p.E125K 0.989 32 0% 41 41.5% 20 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) PLEKHG1 57480 genome.wustl.edu 37 6 151152788 151152788 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029884.1 +1 provisional p.K847N 1.000 73 0% 31 41.9% 24 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTHFD1L 25902 genome.wustl.edu 37 6 151293131 151293131 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015440.3 +1 validated p.G688S 1.000 257 0% 124 48.4% 33 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP12 9590 genome.wustl.edu 37 6 151671320 151671320 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005100.3 +1 reviewed p.S598 0.070 90 0% 48 45.8% 17 82.3% - - - NULL AKAP12 9590 genome.wustl.edu 37 6 151674413 151674413 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005100.3 +1 reviewed p.D1629 0.000 250 0% 118 44.9% 26 46.1% - - - NULL C6orf211 79624 genome.wustl.edu 37 6 151789810 151789810 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024573.1 +1 predicted p.F297 0.890 170 0% 199 48.7% 52 53.8% - - - HMMPfam_DUF89,superfamily_DUF89 C6orf97 80129 genome.wustl.edu 37 6 151859218 151859218 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025059.3 +1 validated p.V75 0.022 77 0% 34 44.1% 4 25% - - - NULL C6orf97 80129 genome.wustl.edu 37 6 151865752 151865752 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025059.3 +1 validated p.K163N 0.011 146 0% 129 52.7% 1 100% benign(0.167) tolerated(0.14) neutral(0.265) NULL C6orf97 80129 genome.wustl.edu 37 6 151936783 151936783 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025059.3 +1 validated p.S639Y 0.759 153 0% 98 36.7% 4 50% possibly_damaging(0.843) deleterious(0.03) deleterious(0.688) NULL SYNE1 23345 genome.wustl.edu 37 6 152529205 152529205 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182961.2 -1 reviewed p.R7576C 1.000 357 0.6% 62 38.7% 2 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152642914 152642914 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182961.2 -1 reviewed p.T5342M 1.000 214 0% 257 39.7% 0 - probably_damaging(1) - - NULL SYNE1 23345 genome.wustl.edu 37 6 152647133 152647133 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182961.2 -1 reviewed p.S5133L 1.000 211 0% 267 45.7% 0 - benign(0.08) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152651599 152651599 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182961.2 -1 reviewed p.R4741C 0.984 157 0% 63 38.1% 0 - probably_damaging(1) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152680545 152680545 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182961.2 -1 reviewed p.E3450* 0.497 147 0% 75 64% 0 - - - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152697632 152697632 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182961.2 -1 reviewed p.R3070* 0.988 300 0.3% 151 12.6% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152737763 152737763 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182961.2 -1 reviewed p.L1937 0.750 282 0% 128 47.7% 0 - - - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152765634 152765634 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182961.2 -1 reviewed p.S1250Y 0.879 152 0% 183 50.8% 0 - benign(0.355) tolerated(0.06) neutral(0.435) NULL SYNE1 23345 genome.wustl.edu 37 6 152786535 152786535 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182961.2 -1 reviewed p.L597R 1.000 207 0% 56 44.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Spectrin repeat FBXO5 26271 genome.wustl.edu 37 6 153294181 153294181 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012177.3 -1 reviewed p.T303 0.180 207 0% 150 14% 46 10.8% - - - NULL FBXO5 26271 genome.wustl.edu 37 6 153296497 153296497 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012177.3 -1 reviewed p.Q121 0.123 252 0% 230 42.2% 35 45.7% - - - NULL RGS17 26575 genome.wustl.edu 37 6 153332860 153332860 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012419.4 -1 reviewed p.R161I 1.000 54 0% 59 42.4% 0 - possibly_damaging(0.782) deleterious(0) deleterious(0.738) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam OPRM1 4988 genome.wustl.edu 37 6 154412384 154412384 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145279.1 +1 reviewed p.T407M 0.762 301 0% 75 45.3% 0 - possibly_damaging(0.825) tolerated(0.09) deleterious(0.609) HMMPfam_7tm_1,superfamily_SSF81321 TIAM2 26230 genome.wustl.edu 37 6 155578154 155578154 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012454.3 +1 reviewed p.D1669N 0.989 131 0% 92 47.8% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZDHHC14 79683 genome.wustl.edu 37 6 157963675 157963675 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024630.2 +1 provisional p.F102L 1.000 76 1.3% 35 17.1% 3 33.3% benign(0.014) tolerated(0.21) neutral(0.044) NULL TULP4 56995 genome.wustl.edu 37 6 158922735 158922735 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020245.3 +1 validated p.E680D 1.000 95 0% 51 11.8% 3 0% benign(0) tolerated(0.56) neutral(0.006) NULL TULP4 56995 genome.wustl.edu 37 6 158924662 158924662 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020245.3 +1 validated p.E1323K 1.000 31 0% 42 47.6% 7 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYTL3 94120 genome.wustl.edu 37 6 159084311 159084311 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009991.2 +1 validated p.E4G 0.120 51 0% 38 39.5% 2 100% possibly_damaging(0.614) tolerated(0.28) neutral(0.244) NULL TAGAP 117289 genome.wustl.edu 37 6 159457603 159457603 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_054114.3 -1 reviewed p.F484L 0.543 52 0% 53 52.8% 0 - probably_damaging(0.991) tolerated(1) neutral(0.444) NULL TAGAP 117289 genome.wustl.edu 37 6 159461820 159461820 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_054114.3 -1 reviewed p.L174 1.000 292 0% 90 11.1% 1 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP FNDC1 84624 genome.wustl.edu 37 6 159657300 159657300 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032532.2 +1 validated p.K1341Q 1.000 104 0% 163 14.7% 6 0% unknown(0) deleterious(0) - NULL FNDC1 84624 genome.wustl.edu 37 6 159687209 159687209 + Missense_Mutation SNP G G A rs143447403 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032532.2 +1 validated p.R1793Q 0.655 490 0% 111 37.8% 8 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TCP1 6950 genome.wustl.edu 37 6 160206482 160206482 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030752.2 -1 reviewed p.E142* 1.000 200 0% 200 44.5% 178 9.5% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase IGF2R 3482 genome.wustl.edu 37 6 160485885 160485885 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000876.2 +1 reviewed p.R1356Q 0.872 417 0% 215 39.5% 40 47.5% probably_damaging(0.97) tolerated(0.36) neutral(0.432) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A2 6582 genome.wustl.edu 37 6 160645760 160645760 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003058.2 -1 reviewed p.I526 0.964 268 0% 70 41.4% 0 - - - - superfamily_MFS general substrate transporter SLC22A2 6582 genome.wustl.edu 37 6 160662570 160662570 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003058.2 -1 reviewed p.I479 0.997 105 0% 24 58.3% 0 - - - - superfamily_MFS general substrate transporter SLC22A3 6581 genome.wustl.edu 37 6 160829948 160829948 + Nonsense_Mutation SNP T T G rs188005276 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021977.2 +1 reviewed p.Y284* 1.000 301 0% 73 50.7% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A3 6581 genome.wustl.edu 37 6 160857811 160857811 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021977.2 +1 reviewed e6-1 1.000 130 0% 132 42.4% 0 - - - - - LPA 4018 genome.wustl.edu 37 6 161014997 161014997 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005577.2 -1 reviewed p.P1208T 0.103 254 0% 92 41.3% 0 - benign(0.026) deleterious(0.01) neutral(0.407) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like PLG 5340 genome.wustl.edu 37 6 161173150 161173150 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000301.3 +1 reviewed p.T710N 0.031 108 0% 76 40.8% 0 - possibly_damaging(0.746) tolerated(0.06) deleterious(0.597) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MAP3K4 4216 genome.wustl.edu 37 6 161470088 161470088 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005922.2 +1 reviewed p.E262K 1.000 114 0% 64 46.9% 6 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL MAP3K4 4216 genome.wustl.edu 37 6 161529779 161529779 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005922.2 +1 reviewed p.R1375Q 0.979 217 0% 122 25.4% 30 36.6% probably_damaging(1) tolerated(0.39) deleterious(0.516) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PDE10A 10846 genome.wustl.edu 37 6 165746585 165746585 + Nonsense_Mutation SNP G G A rs141939882 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130690.1 -1 validated p.R767* 0.002 115 0% 70 57.1% 1 0% - - - superfamily_SSF109604 PDE10A 10846 genome.wustl.edu 37 6 165863801 165863801 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130690.1 -1 validated p.I92T 1.000 244 0% 157 43.9% 0 - benign(0.03) tolerated(0.09) neutral(0.298) superfamily_SSF55781 T 6862 genome.wustl.edu 37 6 166578155 166578155 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003181.2 -1 reviewed e5-1 1.000 37 0% 70 50% 0 - - - - - RPS6KA2 6196 genome.wustl.edu 37 6 166831828 166831828 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001006932.1 -1 reviewed p.F616C 0.997 31 0% 39 41% 15 33.3% benign(0) tolerated(0.17) neutral(0.059) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CCR6 1235 genome.wustl.edu 37 6 167550249 167550249 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004367.5 +1 reviewed p.I177 0.971 82 0% 70 50% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 UNC93A 54346 genome.wustl.edu 37 6 167717600 167717600 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018974.3 +1 validated p.F273L 1.000 122 0% 78 41% 1 0% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) superfamily_MFS_gen_substrate_transporter UNC93A 54346 genome.wustl.edu 37 6 167721349 167721349 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018974.3 +1 validated p.F353L 0.006 147 0% 25 56% 0 - benign(0) tolerated(1) - superfamily_MFS_gen_substrate_transporter MLLT4 4301 genome.wustl.edu 37 6 168265427 168265427 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040001.1 +1 validated e2+1 1.000 274 0% 94 37.2% 0 - - - - - MLLT4 4301 genome.wustl.edu 37 6 168317819 168317819 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040001.1 +1 validated p.N864 0.957 154 0% 152 46.1% 14 78.5% - - - HMMPfam_DIL MLLT4 4301 genome.wustl.edu 37 6 168363231 168363231 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000507704 +1 known p.E133* 1.000 166 0% 75 36% 73 15% benign(0.299) deleterious(0.01) deleterious(0.498) NULL MLLT4 4301 genome.wustl.edu 37 6 168369850 168369850 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040001.1 +1 validated p.R1775W 0.002 204 0% 188 26.6% 62 48.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIF25 3834 genome.wustl.edu 37 6 168443325 168443325 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030615.2 +1 reviewed p.A305V 1.000 55 0% 48 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases C6orf70 55780 genome.wustl.edu 37 6 170169682 170169682 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018341.1 +1 validated p.R369I 0.998 80 0% 156 47.4% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM120B 84498 genome.wustl.edu 37 6 170627389 170627389 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032448.1 +1 provisional p.Y304S 1.000 26 0% 48 39.6% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM120B 84498 genome.wustl.edu 37 6 170700152 170700152 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032448.1 +1 provisional p.C848R 1.000 71 0% 63 42.9% 42 45.2% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PDGFA 5154 genome.wustl.edu 37 7 552080 552080 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002607.5 -1 reviewed p.S58Y 1.000 20 0.000 7 0.571 24 45.8% benign(0.134) deleterious(0.04) neutral(0.360) HMMPfam_PDGF_N HEATR2 54919 genome.wustl.edu 37 7 794232 794232 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017802.3 +1 validated p.R344H 1.000 54 0% 44 50% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat SUN1 23353 genome.wustl.edu 37 7 878594 878594 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130965.2 +1 reviewed p.S79 0.000 90 0% 78 43.6% 63 68.2% - - - HMMPfam_MRP COX19 90639 genome.wustl.edu 37 7 1012906 1012906 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031617.2 -1 validated p.E35D 0.999 42 0% 230 47.4% 8 37.5% benign(0.041) tolerated(0.43) neutral(0.016) HMMPfam_CHCH MICALL2 79778 genome.wustl.edu 37 7 1476463 1476463 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182924.3 -1 validated p.R836W 0.015 5 0.000 12 0.500 18 27.7% probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL CARD11 84433 genome.wustl.edu 37 7 2951848 2951848 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032415.3 -1 validated p.F1034 0.931 35 0% 98 48% 3 0% - - - superfamily_SSF52540 CARD11 84433 genome.wustl.edu 37 7 2979441 2979441 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032415.3 -1 validated p.L269R 1.000 269 0% 227 48.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SDK1 221935 genome.wustl.edu 37 7 4008942 4008942 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152744.3 +1 validated p.E534* 0.999 60 0% 33 24.2% 3 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SDK1 221935 genome.wustl.edu 37 7 4153063 4153063 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152744.3 +1 validated p.R1193C 0.974 53 0% 39 48.7% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PAPOLB 56903 genome.wustl.edu 37 7 4901057 4901057 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020144.4 -1 validated p.D129N 1.000 202 0% 191 40.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_NTP_transf_2,HMMPfam_PAP_central,superfamily_SSF81301 RBAK 57786 genome.wustl.edu 37 7 5112821 5112821 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000407184 +1 known p.F235C 0.001 82 0% 32 50% 0 - unknown(0) - - NULL TNRC18 84629 genome.wustl.edu 37 7 5352916 5352916 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080495.2 -1 provisional p.E2536K 0.966 8 0.000 13 0.462 14 50% benign(0.137) deleterious(0.03) neutral(0.376) NULL CCZ1 51622 genome.wustl.edu 37 7 5944724 5944724 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015622.5 +1 validated e7-1 1.000 111 0% 254 41.3% 0 - - - - - PMS2 5395 genome.wustl.edu 37 7 6026709 6026709 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000535.5 -1 reviewed p.R563 0.000 20 0% 74 35.1% 15 46.6% - - - NULL ZNF12 7559 genome.wustl.edu 37 7 6731682 6731682 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016265.3 -1 reviewed p.Y297 0.000 143 0% 132 13.6% 10 0% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100131257 100131257 genome.wustl.edu 37 7 7118103 7118103 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001716696.1 -1 model p.E367D 1.000 46 0% 15 46.7% 0 - - - - superfamily_C2H2 and C2HC zinc fingers LOC100131257 100131257 genome.wustl.edu 37 7 7118776 7118776 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001716696.1 -1 model p.K143T 0.709 38 0% 24 45.8% 0 - - - - superfamily_C2H2 and C2HC zinc fingers COL28A1 340267 genome.wustl.edu 37 7 7472316 7472316 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037763.2 -1 validated p.R626W 0.024 110 0% 40 47.5% 2 0% probably_damaging(0.967) deleterious(0.02) deleterious(0.792) NULL COL28A1 340267 genome.wustl.edu 37 7 7571264 7571264 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037763.2 -1 validated p.F132L 1.000 180 0% 55 49.1% 0 - possibly_damaging(0.797) deleterious(0.02) deleterious(0.682) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL28A1 340267 genome.wustl.edu 37 7 7572415 7572415 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037763.2 -1 validated p.S31* 0.042 274 0% 133 40.6% 0 - - - - NULL ICA1 3382 genome.wustl.edu 37 7 8258030 8258030 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004968.2 -1 reviewed p.C162R 1.000 265 0% 52 32.7% 69 52.1% benign(0.037) deleterious(0) neutral(0.447) HMMPfam_Arfaptin NXPH1 30010 genome.wustl.edu 37 7 8790900 8790900 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152745.2 +1 reviewed p.R106I 1.000 66 0% 31 48.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neurexophilin ARL4A 10124 genome.wustl.edu 37 7 12727950 12727950 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037164.1 +1 reviewed p.V24A 0.996 185 0% 205 35.1% 26 69.2% benign(0) tolerated(0.15) neutral(0.241) HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases ETV1 2115 genome.wustl.edu 37 7 13971183 13971183 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004956.4 -1 validated p.S249N 1.000 206 0% 92 54.3% 3 0% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_ETS_PEA3_N ETV1 2115 genome.wustl.edu 37 7 14026299 14026299 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004956.4 -1 validated p.D49Y 1.000 267 0.4% 136 45.6% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ETS_PEA3_N DGKB 1607 genome.wustl.edu 37 7 14378200 14378200 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004080.2 -1 reviewed p.K689Q 1.000 233 0% 54 33.3% 0 - benign(0.424) tolerated(0.23) neutral(0.179) HMMPfam_DAGK_acc,HMMSmart_SM00045 DGKB 1607 genome.wustl.edu 37 7 14733810 14733810 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004080.2 -1 reviewed p.E201* 1.000 140 0% 107 49.5% 0 - - - - HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand DGKB 1607 genome.wustl.edu 37 7 14880829 14880829 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004080.2 -1 reviewed p.K20N 1.000 133 0% 99 40.4% 0 - benign(0.024) deleterious(0.01) neutral(0.407) superfamily_EF-hand AGMO 392636 genome.wustl.edu 37 7 15470668 15470668 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004320.1 -1 provisional p.A159S 1.000 294 0% 71 47.9% 0 - possibly_damaging(0.932) tolerated(0.08) deleterious(0.678) HMMPfam_FA_hydroxylase AGMO 392636 genome.wustl.edu 37 7 15601422 15601422 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004320.1 -1 provisional p.R17C 0.829 193 0% 44 47.7% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL SNX13 23161 genome.wustl.edu 37 7 17879522 17879522 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015132.4 -1 reviewed p.R423C 1.000 245 0% 35 37.1% 13 38.4% benign(0.004) deleterious(0.02) neutral(0.383) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS SNX13 23161 genome.wustl.edu 37 7 17915406 17915406 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015132.4 -1 reviewed p.E150* 1.000 393 0% 152 43.4% 4 0% - - - HMMPfam_PXA,HMMSmart_SM00313 SNX13 23161 genome.wustl.edu 37 7 17937002 17937002 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015132.4 -1 reviewed p.F27C 1.000 110 0% 82 39% 1 0% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL PRPS1L1 221823 genome.wustl.edu 37 7 18066485 18066485 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175886.2 -1 reviewed p.E307D 1.000 183 0% 114 37.7% 0 - benign(0.368) tolerated(0.11) neutral(0.389) superfamily_PRTase-like HDAC9 9734 genome.wustl.edu 37 7 18688191 18688191 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178425.2 +1 reviewed p.R451Q 1.000 126 0% 24 33.3% 10 20% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL HDAC9 9734 genome.wustl.edu 37 7 18688267 18688267 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178425.2 +1 reviewed p.E476D 1.000 105 0% 23 30.4% 12 50% probably_damaging(0.971) tolerated(0.14) deleterious(0.662) NULL HDAC9 9734 genome.wustl.edu 37 7 18801793 18801793 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178425.2 +1 reviewed p.R686Q 1.000 136 0% 24 50% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Hist_deacetyl,superfamily_SSF52768 HDAC9 9734 genome.wustl.edu 37 7 18914205 18914205 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178425.2 +1 reviewed p.K930T 1.000 202 0% 13 38.5% 2 0% probably_damaging(0.99) tolerated(0.25) deleterious(0.478) HMMPfam_Hist_deacetyl,superfamily_SSF52768 MACC1 346389 genome.wustl.edu 37 7 20199399 20199399 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182762.3 -1 validated p.L195F 0.994 103 0% 43 27.9% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MACC1 346389 genome.wustl.edu 37 7 20199589 20199589 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182762.3 -1 validated p.R132I 0.970 82 0% 38 44.7% 6 50% possibly_damaging(0.805) tolerated(0.12) deleterious(0.564) NULL ITGB8 3696 genome.wustl.edu 37 7 20418898 20418898 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002214.2 +1 reviewed p.E205K 0.245 146 0.7% 106 48.1% 17 41.1% benign(0.122) tolerated(0.18) neutral(0.066) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like ABCB5 340273 genome.wustl.edu 37 7 20682911 20682911 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000404938 +1 known p.R140Q 0.993 221 0% 93 47.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB5 340273 genome.wustl.edu 37 7 20721258 20721258 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178559.5 +1 validated p.R168Q 0.842 143 0% 78 44.9% 0 - benign(0.001) tolerated(0.18) neutral(0.056) superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB5 340273 genome.wustl.edu 37 7 20795203 20795203 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178559.5 +1 validated p.R799* 0.911 84 0% 61 39.3% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SP4 6671 genome.wustl.edu 37 7 21516880 21516880 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003112.3 +1 validated p.R621Q 1.000 360 0% 81 13.6% 5 0% possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL DNAH11 8701 genome.wustl.edu 37 7 21627806 21627806 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003777.3 +1 reviewed p.E612A 0.998 225 0% 103 37.9% 0 - benign(0.002) tolerated(0.32) neutral(0.024) HMMPfam_DHC_N1 DNAH11 8701 genome.wustl.edu 37 7 21654762 21654762 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003777.3 +1 reviewed p.E1295* 1.000 322 0% 91 46.2% 1 0% - - - NULL DNAH11 8701 genome.wustl.edu 37 7 21677307 21677307 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003777.3 +1 reviewed p.D1607Y 1.000 152 0% 85 49.4% 1 100% probably_damaging(0.956) tolerated(0.25) neutral(0.436) HMMPfam_DHC_N2 DNAH11 8701 genome.wustl.edu 37 7 21778324 21778324 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003777.3 +1 reviewed p.L2558I 1.000 128 0% 77 51.9% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21778398 21778398 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003777.3 +1 reviewed p.I2582 0.526 143 0% 74 37.8% 2 0% - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases CDCA7L 55536 genome.wustl.edu 37 7 21945913 21945913 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018719.4 -1 validated p.T305 0.010 34 0% 41 46.3% 51 54.9% - - - NULL CDCA7L 55536 genome.wustl.edu 37 7 21948001 21948001 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018719.4 -1 validated p.R143Q 0.993 108 0% 134 41.8% 82 54.8% possibly_damaging(0.951) deleterious(0) deleterious(0.839) NULL KLHL7 55975 genome.wustl.edu 37 7 23183577 23183577 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031710.2 +1 reviewed p.F242L 1.000 300 0% 116 46.6% 30 30% benign(0.336) deleterious(0.02) deleterious(0.489) HMMPfam_BACK GPNMB 10457 genome.wustl.edu 37 7 23300387 23300387 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005340.1 +1 reviewed p.S338Y 0.111 163 0% 120 44.2% 22 0% possibly_damaging(0.848) deleterious(0.04) deleterious(0.674) HMMSmart_SM00089 IGF2BP3 10643 genome.wustl.edu 37 7 23353260 23353260 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006547.2 -1 reviewed p.I470L 1.000 236 0% 160 46.9% 0 - possibly_damaging(0.928) deleterious(0.01) deleterious(0.781) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) C7orf46 340277 genome.wustl.edu 37 7 23724180 23724180 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199136.3 +1 validated p.R43I 0.775 161 0% 144 52.8% 12 58.3% benign(0.202) deleterious(0.01) neutral(0.425) NULL MPP6 51678 genome.wustl.edu 37 7 24663324 24663324 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016447.2 +1 provisional p.S13L 0.999 169 0% 64 45.3% 0 - benign(0.008) deleterious(0.02) neutral(0.383) HMMSmart_SM00569,HMMPfam_L27 MPP6 51678 genome.wustl.edu 37 7 24681340 24681340 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016447.2 +1 provisional p.H41 0.971 136 0% 138 42.8% 4 25% - - - HMMSmart_SM00569,HMMPfam_L27 MPP6 51678 genome.wustl.edu 37 7 24705234 24705234 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016447.2 +1 provisional p.A271T 0.996 242 0% 51 47.1% 3 66.6% benign(0.034) tolerated(0.22) neutral(0.044) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 OSBPL3 26031 genome.wustl.edu 37 7 24874001 24874001 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000409452 -1 known p.H617R 0.000 18 0% 10 60% 2 100% unknown(0) - - NULL C7orf31 136895 genome.wustl.edu 37 7 25182304 25182304 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138811.3 -1 validated p.L272I 0.923 84 0% 149 36.9% 5 40% possibly_damaging(0.945) tolerated(0.08) deleterious(0.690) NULL HOXA5 3202 genome.wustl.edu 37 7 27183130 27183130 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019102.2 -1 reviewed p.Q33* 1.000 43 0% 63 39.7% 0 - - - - NULL HOXA9 3205 genome.wustl.edu 37 7 27203433 27203433 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152739.3 -1 reviewed p.A203V 1.000 78 0% 186 42.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Homeodomain_like HOXA9 3205 genome.wustl.edu 37 7 27209184 27209184 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000354032 -1 known p.E28* 1.000 12 0% 21 52.4% 1 0% - - - NULL HOXA11 3207 genome.wustl.edu 37 7 27224066 27224066 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005523.5 -1 reviewed p.A233V 1.000 4 0.000 7 0.714 5 0% benign(0.382) tolerated(0.08) neutral(0.422) superfamily_Homeodomain-like HOXA13 3209 genome.wustl.edu 37 7 27237978 27237978 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000522.4 -1 reviewed p.E336* 1.000 86 0% 334 43.4% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like CPVL 54504 genome.wustl.edu 37 7 29035428 29035428 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019029.2 -1 reviewed p.R464Q 0.999 101 0% 105 39% 19 36.8% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases CPVL 54504 genome.wustl.edu 37 7 29152361 29152361 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019029.2 -1 reviewed p.T83P 0.998 97 0% 49 49% 5 60% benign(0.408) tolerated(0.16) neutral(0.192) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases WIPF3 644150 genome.wustl.edu 37 7 29927727 29927727 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000242140 +1 known p.A381 0.848 60 0% 45 44.4% 5 40% - - - NULL FKBP14 55033 genome.wustl.edu 37 7 30066078 30066078 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017946.2 -1 validated p.S16Y 0.000 73 0% 129 44.2% 13 23% benign(0.046) tolerated(1) neutral(0.003) superfamily_FKBP-like GGCT 79017 genome.wustl.edu 37 7 30538620 30538620 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000433390 -1 known p.K13N 0.006 177 0% 213 44.6% 2 50% unknown(0) deleterious(0) - NULL FAM188B 84182 genome.wustl.edu 37 7 30915152 30915152 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032222.2 +1 validated p.V618I 1.000 337 0% 136 19.1% 7 28.5% probably_damaging(0.992) tolerated(0.08) deleterious(0.748) NULL AQP1 358 genome.wustl.edu 37 7 30951534 30951534 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198098.2 +1 reviewed p.E4K 1.000 17 0% 17 52.9% 3 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_MIP,superfamily_Aquaporin-like ADCYAP1R1 117 genome.wustl.edu 37 7 31123755 31123755 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001118.3 +1 reviewed e6-1 0.998 408 0% 188 48.9% 0 - - - - - CCDC129 223075 genome.wustl.edu 37 7 31682319 31682319 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194300.2 +1 validated p.Q445H 0.000 100 0% 28 50% 0 - possibly_damaging(0.855) deleterious(0.01) deleterious(0.736) NULL FKBP9 11328 genome.wustl.edu 37 7 33014331 33014331 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007270.3 +1 validated p.F108 0.252 175 0% 70 40% 71 38% - - - HMMPfam_FKBP_C,superfamily_SSF54534 NT5C3 51251 genome.wustl.edu 37 7 33057070 33057070 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002010.1 -1 reviewed p.F230C 1.000 101 0% 90 54.4% 45 51.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UMPH-1,superfamily_HAD-like NT5C3 51251 genome.wustl.edu 37 7 33057195 33057195 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002010.1 -1 reviewed p.F188L 1.000 148 0% 112 44.6% 51 56.8% benign(0.109) tolerated(0.38) neutral(0.026) HMMPfam_UMPH-1,superfamily_HAD-like BBS9 27241 genome.wustl.edu 37 7 33217124 33217124 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198428.2 +1 reviewed p.C121 1.000 155 0% 120 49.2% 7 57.1% - - - NULL BBS9 27241 genome.wustl.edu 37 7 33384198 33384198 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198428.2 +1 reviewed p.A427 0.188 480 0.2% 175 42.9% 2 50% - - - NULL BMPER 168667 genome.wustl.edu 37 7 33946463 33946463 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133468.3 +1 validated p.V56A 0.906 96 0% 174 42.5% 0 - benign(0.048) tolerated(0.15) neutral(0.244) HMMSmart_VWC BMPER 168667 genome.wustl.edu 37 7 34091518 34091518 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133468.3 +1 validated p.R241Q 1.000 308 0% 65 44.6% 0 - benign(0.055) tolerated(0.15) neutral(0.244) HMMPfam_VWC,HMMSmart_VWC BMPER 168667 genome.wustl.edu 37 7 34182865 34182865 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133468.3 +1 validated p.E590A 1.000 236 0% 83 34.9% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_C8 NPSR1 387129 genome.wustl.edu 37 7 34724253 34724253 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207173.1 +1 reviewed p.K79N 1.000 315 0% 159 44.7% 0 - benign(0.024) deleterious(0.01) neutral(0.407) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NPSR1 387129 genome.wustl.edu 37 7 34888192 34888192 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207173.1 +1 reviewed p.I314 1.000 337 0% 124 41.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like EEPD1 80820 genome.wustl.edu 37 7 36278601 36278601 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030636.2 +1 validated p.L296F 1.000 190 0% 221 50.7% 19 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Exo_endo_phos,superfamily_DNase I-like AOAH 313 genome.wustl.edu 37 7 36588256 36588256 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001637.3 -1 reviewed p.I365 0.106 174 0% 59 39% 1 0% - - - HMMPfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type ELMO1 9844 genome.wustl.edu 37 7 37272719 37272719 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014800.9 -1 reviewed p.S177L 1.000 76 0% 42 42.9% 1 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_ARM repeat GPR141 353345 genome.wustl.edu 37 7 37780724 37780724 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181791.1 +1 provisional p.F243L 0.919 638 0% 109 44% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 TXNDC3 51314 genome.wustl.edu 37 7 37903064 37903064 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016616.4 +1 reviewed p.Q152* 0.542 221 0% 93 49.5% 1 0% - - - NULL TXNDC3 51314 genome.wustl.edu 37 7 37907312 37907312 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016616.4 +1 reviewed p.F210 0.998 236 0% 81 49.4% 0 - - - - superfamily_NDK TXNDC3 51314 genome.wustl.edu 37 7 37936662 37936662 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016616.4 +1 reviewed p.N579D 0.000 78 0% 32 62.5% 0 - benign(0.005) tolerated(0.42) neutral(0.014) HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK TRGV9 6983 genome.wustl.edu 37 7 38356866 38356866 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000444775 -1 known p.R40C 0.985 124 0% 95 51.6% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 AMPH 273 genome.wustl.edu 37 7 38530740 38530740 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001635.2 -1 reviewed p.C102W 1.000 140 0% 29 41.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_BAR,HMMSmart_SM00721 VPS41 27072 genome.wustl.edu 37 7 38783071 38783071 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014396.3 -1 reviewed p.E685K 1.000 210 0% 136 47.1% 42 38% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat VPS41 27072 genome.wustl.edu 37 7 38902155 38902155 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014396.3 -1 reviewed p.K79M 1.000 110 0% 46 39.1% 12 50% possibly_damaging(0.819) tolerated(0.09) deleterious(0.606) superfamily_WD40 repeat-like POU6F2 11281 genome.wustl.edu 37 7 39379354 39379354 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007252.3 +1 reviewed p.P209S 0.998 81 0% 31 64.5% 0 - unknown(0) tolerated(0.28) - NULL RALA 5898 genome.wustl.edu 37 7 39745749 39745749 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005402.2 +1 reviewed p.R176* 1.000 75 0% 148 47.3% 83 51.8% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000249078 0 genome.wustl.edu 37 7 39894158 39894158 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000507268 +1 known NULL 0.771 435 0% 512 47.1% 27 0% - - - - CDK13 8621 genome.wustl.edu 37 7 40027854 40027854 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003718.4 +1 reviewed p.D623A 1.000 54 0% 39 46.2% 20 60% possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) NULL CDK13 8621 genome.wustl.edu 37 7 40041532 40041532 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003718.4 +1 reviewed p.E752G 1.000 57 0% 51 47.1% 8 62.5% possibly_damaging(0.666) deleterious(0) deleterious(0.680) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CDK13 8621 genome.wustl.edu 37 7 40132606 40132606 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003718.4 +1 reviewed p.S1153L 0.997 152 0% 75 45.3% 47 44.6% possibly_damaging(0.794) tolerated(0.1) deleterious(0.585) NULL CDK13 8621 genome.wustl.edu 37 7 40133988 40133988 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003718.4 +1 reviewed p.K1316N 0.999 177 0% 84 42.9% 44 47.7% probably_damaging(0.959) tolerated(0.05) deleterious(0.748) NULL CDK13 8621 genome.wustl.edu 37 7 40134134 40134134 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003718.4 +1 reviewed p.R1365Q 0.998 232 0% 118 38.1% 39 48.7% possibly_damaging(0.95) tolerated(0.13) deleterious(0.646) NULL C7orf10 79783 genome.wustl.edu 37 7 40789050 40789050 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024728.1 +1 provisional p.L365 0.000 325 0% 196 41.3% 2 50% - - - superfamily_CoA-Trfase_fam_III GLI3 2737 genome.wustl.edu 37 7 42262814 42262814 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000168.5 -1 reviewed p.K13N 1.000 232 0% 126 42.1% 0 - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL C7orf25 79020 genome.wustl.edu 37 7 42949761 42949761 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099858.1 -1 validated p.R305 0.692 115 0% 116 37.1% 28 39.2% - - - HMMPfam_DUF1308 HECW1 23072 genome.wustl.edu 37 7 43360256 43360256 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015052.3 +1 validated p.F125L 0.970 199 0% 191 41.9% 0 - probably_damaging(0.964) deleterious(0.01) deleterious(0.812) NULL HECW1 23072 genome.wustl.edu 37 7 43580814 43580814 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015052.3 +1 validated p.L1358I 1.000 251 0% 122 40.2% 0 - probably_damaging(0.993) tolerated(0.3) deleterious(0.479) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT STK17A 9263 genome.wustl.edu 37 7 43647873 43647873 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004760.2 +1 reviewed p.I146 1.000 104 0% 145 15.2% 24 8.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK17A 9263 genome.wustl.edu 37 7 43663355 43663355 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004760.2 +1 reviewed p.F263S 1.000 321 0% 142 50% 20 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MYL7 58498 genome.wustl.edu 37 7 44179077 44179077 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000446581 -1 known p.L84I 0.000 20 0% 30 43.3% 0 - unknown(0) deleterious(0.01) - superfamily_EF-hand NPC1L1 29881 genome.wustl.edu 37 7 44573450 44573450 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013389.2 -1 reviewed p.R723 1.000 13 0% 11 63.6% 0 - - - - HMMPfam_Patched,superfamily_SSF82866 NPC1L1 29881 genome.wustl.edu 37 7 44579768 44579768 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013389.2 -1 reviewed p.K76N 0.005 70 0% 50 48% 0 - benign(0.068) tolerated(0.3) neutral(0.033) NULL DDX56 54606 genome.wustl.edu 37 7 44613306 44613306 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019082.2 -1 reviewed p.I33S 1.000 14 0% 20 40% 53 35.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TMED4 222068 genome.wustl.edu 37 7 44621131 44621131 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182547.2 -1 provisional p.F102L 1.000 47 0% 49 44.9% 81 48.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_EMP24_GP25L MYO1G 64005 genome.wustl.edu 37 7 45004020 45004020 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033054.2 -1 validated p.V875 1.000 77 0% 87 49.4% 8 0% - - - HMMPfam_Myosin_TH1 TBRG4 9238 genome.wustl.edu 37 7 45141963 45141963 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004749.2 -1 validated p.F435C 0.038 54 0% 57 56.1% 69 30.4% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_FAST_1 IGFBP3 3486 genome.wustl.edu 37 7 45956251 45956251 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013398.1 -1 reviewed p.E222* 1.000 181 0% 115 48.7% 148 0.6% - - - HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain PKD1L1 168507 genome.wustl.edu 37 7 47852787 47852787 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000433506 -1 known p.R17C 0.000 225 0% 109 48.6% 0 - - - - NULL PKD1L1 168507 genome.wustl.edu 37 7 47873974 47873974 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138295.2 -1 reviewed p.S2046Y 0.025 283 0% 148 44.6% 0 - possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL SUN3 256979 genome.wustl.edu 37 7 48033985 48033985 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001030019.1 -1 validated p.T263N 1.000 268 0% 119 52.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sad1_UNC SUN3 256979 genome.wustl.edu 37 7 48046884 48046884 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001030019.1 -1 validated p.L124I 0.988 209 0% 134 46.3% 0 - benign(0.409) tolerated(0.13) neutral(0.385) NULL C7orf57 136288 genome.wustl.edu 37 7 48092408 48092408 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100159.1 +1 validated p.P239 0.000 58 0% 27 14.8% 0 - - - - NULL UPP1 7378 genome.wustl.edu 37 7 48146991 48146991 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003364.2 +1 validated p.Y227S 1.000 97 0% 21 66.7% 17 17.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases ABCA13 154664 genome.wustl.edu 37 7 48288848 48288848 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152701.3 +1 reviewed p.E635 0.004 75 0% 35 31.4% 0 - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48315060 48315060 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152701.3 +1 reviewed p.N1933H 0.077 38 0% 31 41.9% 0 - probably_damaging(0.979) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48316047 48316047 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152701.3 +1 reviewed p.D2262Y 0.011 17 0% 15 46.7% 0 - possibly_damaging(0.564) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48318337 48318337 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152701.3 +1 reviewed p.A2516T 0.002 49 0% 51 41.2% 0 - probably_damaging(0.957) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48377972 48377972 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152701.3 +1 reviewed p.R3375I 0.469 112 0% 68 32.4% 0 - benign(0) - - NULL ZPBP 11055 genome.wustl.edu 37 7 50057901 50057901 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007009.2 -1 validated p.D240Y 0.997 271 0% 47 38.3% 0 - probably_damaging(0.982) deleterious(0.03) deleterious(0.791) HMMPfam_Sp38 GRB10 2887 genome.wustl.edu 37 7 50685735 50685735 + Nonstop_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000428711 -1 known p.*109Y 0.000 110 0% 68 44.1% 0 - - - - NULL GRB10 2887 genome.wustl.edu 37 7 50685748 50685748 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000428711 -1 known p.S105Y 0.000 117 0% 80 15% 0 - unknown(0) - - NULL POM121L12 285877 genome.wustl.edu 37 7 53103695 53103695 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182595.3 +1 validated p.D111Y 0.000 13 0.000 6 0.667 0 - probably_damaging(0.97) tolerated(0.11) deleterious(0.684) NULL POM121L12 285877 genome.wustl.edu 37 7 53103782 53103782 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182595.3 +1 validated p.G140W 0.001 15 0.000 8 0.625 0 - possibly_damaging(0.784) deleterious(0.02) deleterious(0.676) NULL VSTM2A 222008 genome.wustl.edu 37 7 54610472 54610472 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182546.2 +1 validated p.L17V 0.074 109 0% 667 38.8% 0 - benign(0.38) deleterious(0.01) deleterious(0.527) NULL EGFR 1956 genome.wustl.edu 37 7 55259436 55259436 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005228.3 +1 reviewed p.R832C 1.000 159 0% 28 67.9% 5 40% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SEPT14 346288 genome.wustl.edu 37 7 55910781 55910781 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207366.2 -1 validated p.A138T 0.997 121 0% 180 40% 0 - benign(0.002) tolerated(0.22) neutral(0.042) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC441228 441228 genome.wustl.edu 37 7 56357950 56357950 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_016387.3 +1 model NULL 1.000 256 0% 175 44.6% 0 - - - - - LOC441228 441228 genome.wustl.edu 37 7 56359304 56359304 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_016387.3 +1 model NULL 0.001 48 0% 38 44.7% 0 - - - - - LOC100289196 100289196 genome.wustl.edu 37 7 56671228 56671228 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342722.1 +1 model p.K42N 0.997 40 0% 46 30.4% 1 0% - - - NULL ZNF479 90827 genome.wustl.edu 37 7 57188408 57188408 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033273.1 -1 provisional p.E238D 1.000 177 0% 99 43.4% 0 - benign(0.085) deleterious(0.04) neutral(0.355) superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57193728 57193728 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033273.1 -1 provisional p.P87S 0.374 429 0% 201 46.8% 0 - benign(0.077) tolerated(0.17) neutral(0.065) NULL ZNF716 441234 genome.wustl.edu 37 7 57529616 57529616 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342727.1 +1 model p.K400 0.802 44 0% 36 33.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF679 168417 genome.wustl.edu 37 7 63721288 63721288 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153363.2 +1 validated p.E81D 0.002 323 0% 162 46.9% 0 - benign(0.098) tolerated(0.08) neutral(0.307) NULL ZNF679 168417 genome.wustl.edu 37 7 63726958 63726958 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153363.2 +1 validated p.R316I 1.000 47 0% 28 42.9% 0 - benign(0.008) tolerated(0.29) neutral(0.029) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF107 51427 genome.wustl.edu 37 7 64167944 64167944 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013746.1 +1 validated p.F421C 0.900 44 0% 49 42.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF273 10793 genome.wustl.edu 37 7 64389223 64389223 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021148.2 +1 reviewed p.R506I 0.342 57 0% 59 50.8% 12 50% benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF117 51351 genome.wustl.edu 37 7 64439479 64439479 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015852.3 -1 validated p.R157I 0.857 81 0% 53 49.1% 4 25% benign(0.26) tolerated(0.07) neutral(0.346) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ERV3-1 2086 genome.wustl.edu 37 7 64451822 64451822 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007253.3 -1 reviewed p.E528G 0.469 168 0% 83 41% 9 66.6% possibly_damaging(0.662) deleterious(0.01) deleterious(0.640) NULL ERV3-1 2086 genome.wustl.edu 37 7 64452582 64452582 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007253.3 -1 reviewed p.L275V 0.673 192 0% 85 43.5% 6 66.6% possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL ZNF92 168374 genome.wustl.edu 37 7 64863354 64863354 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152626.2 +1 validated p.E109D 0.554 120 0% 81 58% 13 38.4% benign(0.016) tolerated(0.47) neutral(0.011) NULL ZNF92 168374 genome.wustl.edu 37 7 64864658 64864658 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152626.2 +1 validated p.K544R 1.000 39 0% 31 54.8% 13 53.8% probably_damaging(0.964) tolerated(0.07) deleterious(0.726) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers VKORC1L1 154807 genome.wustl.edu 37 7 65419231 65419231 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173517.3 +1 validated p.R159* 1.000 150 0% 62 48.4% 44 45.4% - - - HMMPfam_VKOR,HMMSmart_VKc TPST1 8460 genome.wustl.edu 37 7 65705856 65705856 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003596.3 +1 validated p.K148 1.000 49 0% 54 50% 13 61.5% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000230189 0 genome.wustl.edu 37 7 65946587 65946587 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000429320 -1 known NULL 0.674 6 0.000 8 0.500 0 - - - - - CALN1 83698 genome.wustl.edu 37 7 71868316 71868316 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031468.3 -1 validated p.E13D 1.000 111 0% 21 52.4% 0 - unknown(0) - - NULL FZD9 8326 genome.wustl.edu 37 7 72848926 72848926 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003508.2 +1 reviewed p.E197K 1.000 4 0.000 11 0.455 0 - benign(0.003) tolerated(0.77) neutral(0.001) NULL TBL2 26608 genome.wustl.edu 37 7 72985061 72985061 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012453.2 -1 reviewed p.E374K 0.999 22 0% 21 52.4% 53 35.8% benign(0.035) tolerated(0.5) neutral(0.012) HMMSmart_WD40,superfamily_WD40_like POM121C 100101267 genome.wustl.edu 37 7 75053498 75053498 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099415.1 -1 validated p.S294 0.000 326 0% 207 43.5% 32 31.2% - - - NULL SPDYE5 442590 genome.wustl.edu 37 7 75131244 75131244 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099435.2 +1 validated p.R333C 0.025 78 0% 100 48% 0 - - - - NULL STYXL1 51657 genome.wustl.edu 37 7 75633163 75633163 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016086.2 -1 validated p.D204N 0.003 93 0% 55 45.5% 41 36.5% benign(0.006) tolerated(0.61) neutral(0.004) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II LOC100288807 100288807 genome.wustl.edu 37 7 76163028 76163028 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342739.1 -1 model p.R571C 0.007 143 0% 155 50.3% 2 0% - - - NULL CCDC146 57639 genome.wustl.edu 37 7 76885729 76885729 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020879.2 +1 validated p.I196S 1.000 79 0% 70 57.1% 2 0% possibly_damaging(0.736) deleterious(0.01) deleterious(0.675) NULL CCDC146 57639 genome.wustl.edu 37 7 76908404 76908404 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020879.2 +1 validated p.A560 0.012 115 0% 70 40% 5 40% - - - NULL RSBN1L 222194 genome.wustl.edu 37 7 77325856 77325856 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198467.2 +1 validated p.E24* 0.980 21 0% 15 26.7% 5 80% - - - NULL RSBN1L 222194 genome.wustl.edu 37 7 77365791 77365791 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198467.2 +1 validated p.K217 1.000 118 0% 221 45.2% 5 0% - - - NULL PHTF2 57157 genome.wustl.edu 37 7 77549602 77549602 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127357.1 +1 validated p.K227N 1.000 58 0% 36 47.2% 7 57.1% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL PHTF2 57157 genome.wustl.edu 37 7 77569585 77569585 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127357.1 +1 validated p.F535C 1.000 446 0% 319 44.5% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAGI2 9863 genome.wustl.edu 37 7 77807393 77807393 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012301.3 -1 reviewed p.H780N 1.000 66 0% 17 47.1% 0 - probably_damaging(0.996) tolerated(0.14) deleterious(0.711) HMMPfam_PDZ,superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 77973208 77973208 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012301.3 -1 reviewed p.S432I 1.000 313 0% 85 45.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PDZ,superfamily_PDZ domain-like GNAT3 346562 genome.wustl.edu 37 7 80088112 80088112 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102386.1 -1 provisional p.K314Q 1.000 140 0% 82 41.5% 0 - possibly_damaging(0.479) tolerated(0.13) neutral(0.411) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CD36 948 genome.wustl.edu 37 7 80292313 80292313 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000072.3 +1 reviewed p.S146F 0.019 249 0% 143 44.1% 2 100% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_CD36 CACNA2D1 781 genome.wustl.edu 37 7 81594916 81594916 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000722.2 -1 reviewed p.T856 0.450 163 0% 27 55.6% 0 - - - - NULL CACNA2D1 781 genome.wustl.edu 37 7 81714154 81714154 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000722.2 -1 reviewed p.R197C 1.000 173 0% 96 40.6% 0 - probably_damaging(0.974) deleterious(0.04) deleterious(0.765) HMMPfam_VWA_N PCLO 27445 genome.wustl.edu 37 7 82545765 82545765 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033026.5 -1 validated p.R3846Q 1.000 646 0% 117 46.2% 4 75% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL PCLO 27445 genome.wustl.edu 37 7 82583837 82583837 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033026.5 -1 validated p.E2144 1.000 281 0% 65 53.8% 1 0% - - - NULL PCLO 27445 genome.wustl.edu 37 7 82584922 82584922 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033026.5 -1 validated p.E1783* 1.000 198 0% 69 33.3% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82764499 82764499 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033026.5 -1 validated p.E789D 0.767 750 0% 366 41% 0 - benign(0.026) - - NULL PCLO 27445 genome.wustl.edu 37 7 82784171 82784171 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033026.5 -1 validated p.E596* 1.000 205 0% 176 43.2% 2 100% - - - HMMPfam_zf-piccolo,superfamily_FYVE/PHD zinc finger PCLO 27445 genome.wustl.edu 37 7 82785221 82785221 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033026.5 -1 validated p.K246Q 0.931 265 0% 277 44.8% 0 - unknown(0) - - NULL PCLO 27445 genome.wustl.edu 37 7 82785303 82785303 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033026.5 -1 validated p.P218 0.003 416 0.2% 410 50% 0 - - - - NULL SEMA3E 9723 genome.wustl.edu 37 7 83026004 83026004 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012431.2 -1 reviewed p.E470* 1.000 203 0% 112 44.6% 2 0% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SEMA3E 9723 genome.wustl.edu 37 7 83035320 83035320 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012431.2 -1 reviewed p.A290V 0.998 190 0% 56 37.5% 9 0% probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SEMA3A 10371 genome.wustl.edu 37 7 83592651 83592651 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006080.2 -1 reviewed p.G577V 0.991 171 0% 58 65.5% 3 33.3% benign(0.021) tolerated(0.28) neutral(0.033) superfamily_SSF48726 KIAA1324L 222223 genome.wustl.edu 37 7 86539156 86539156 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142749.2 -1 validated p.Q777H 0.987 179 0% 38 52.6% 0 - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) superfamily_Mannose 6-phosphate receptor domain KIAA1324L 222223 genome.wustl.edu 37 7 86544093 86544093 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000423294 -1 known p.E520* 1.000 339 0% 102 38.2% 1 100% probably_damaging(0.975) tolerated(0.07) deleterious(0.736) superfamily_Growth factor receptor domain DMTF1 9988 genome.wustl.edu 37 7 86824045 86824045 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142327.1 +1 reviewed p.D692Y 1.000 186 0% 35 37.1% 9 44.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CROT 54677 genome.wustl.edu 37 7 86990850 86990850 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143935.1 +1 reviewed p.L157I 0.502 198 0% 75 34.7% 4 75% benign(0.032) tolerated(0.45) neutral(0.013) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases ABCB4 5244 genome.wustl.edu 37 7 87032585 87032585 + Nonsense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018849.2 -1 reviewed p.R1174* 0.621 183 0% 70 54.3% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB4 5244 genome.wustl.edu 37 7 87041263 87041263 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018849.2 -1 reviewed p.R957Q 1.000 82 0% 44 43.2% 0 - possibly_damaging(0.823) tolerated(0.09) deleterious(0.608) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB4 5244 genome.wustl.edu 37 7 87043015 87043015 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018849.2 -1 reviewed p.E901* 1.000 190 0% 92 41.3% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB4 5244 genome.wustl.edu 37 7 87047909 87047909 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018849.2 -1 reviewed p.N808Y 1.000 135 0% 47 44.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB4 5244 genome.wustl.edu 37 7 87083873 87083873 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018849.2 -1 reviewed p.I108F 1.000 48 0% 62 12.9% 0 - benign(0.023) tolerated(0.19) neutral(0.051) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB4 5244 genome.wustl.edu 37 7 87092212 87092212 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018849.2 -1 reviewed p.D50N 1.000 75 0% 42 38.1% 0 - benign(0.02) tolerated(0.87) neutral(0.002) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87180059 87180059 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000927.3 -1 reviewed p.I365 1.000 353 0% 157 47.8% 2 100% - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87190589 87190589 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000927.3 -1 reviewed p.E273* 1.000 148 0% 77 54.5% 2 0% - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87214997 87214997 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000927.3 -1 reviewed e3-1 1.000 116 0% 45 33.3% 0 - - - - - RUNDC3B 154661 genome.wustl.edu 37 7 87369112 87369112 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138290.2 +1 validated p.F172C 1.000 55 0% 47 48.9% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RUN,HMMSmart_SM00593 DBF4 10926 genome.wustl.edu 37 7 87514427 87514427 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006716.3 +1 validated p.S118* 1.000 118 0% 69 36.2% 18 44.4% - - - NULL STEAP4 79689 genome.wustl.edu 37 7 87911988 87911988 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024636.2 -1 validated p.R318* 0.216 50 0% 26 30.8% 0 - - - - HMMPfam_Ferric_reduct STEAP4 79689 genome.wustl.edu 37 7 87913353 87913353 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024636.2 -1 validated p.I78L 0.007 170 0% 71 45.1% 0 - benign(0.005) tolerated(0.06) neutral(0.323) HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains C7orf62 219557 genome.wustl.edu 37 7 88423588 88423588 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152706.2 -1 predicted p.F223L 0.705 266 0% 25 52% 0 - benign(0.001) tolerated(1) - NULL ZNF804B 219578 genome.wustl.edu 37 7 88965421 88965421 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181646.2 +1 provisional p.I1042T 0.770 94 0% 27 48.1% 0 - benign(0.006) tolerated(0.22) neutral(0.042) NULL STEAP1 26872 genome.wustl.edu 37 7 89793950 89793950 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012449.2 +1 reviewed p.L308I 0.923 128 0% 95 48.4% 21 57.1% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL C7orf63 79846 genome.wustl.edu 37 7 89937135 89937135 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039706.2 +1 validated p.F793L 0.997 161 0% 49 51% 1 0% probably_damaging(0.961) tolerated(0.07) deleterious(0.723) NULL GTPBP10 85865 genome.wustl.edu 37 7 89982136 89982136 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033107.2 +1 validated p.N14H 1.000 309 0% 163 40.5% 4 25% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) superfamily_Obg GTP-binding protein N-terminal domain CDK14 5218 genome.wustl.edu 37 7 90377084 90377084 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012395.2 +1 validated p.K135T 1.000 127 0% 136 44.9% 8 62.5% possibly_damaging(0.919) deleterious(0.02) deleterious(0.752) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase AKAP9 10142 genome.wustl.edu 37 7 91674508 91674508 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005751.4 +1 reviewed p.V1783 0.618 76 0% 17 29.4% 4 50% - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91709428 91709428 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005751.4 +1 reviewed p.E2661* 0.073 7 0.000 22 0.500 1 0% - - - NULL ENSG00000240720 0 genome.wustl.edu 37 7 91793307 91793307 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000430130 -1 known p.D404Y 1.000 55 0% 82 48.8% 0 - benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like ENSG00000240720 0 genome.wustl.edu 37 7 91793737 91793737 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000430130 -1 known p.E260D 1.000 19 0% 34 52.9% 0 - possibly_damaging(0.892) tolerated(0.11) deleterious(0.623) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like CDK6 1021 genome.wustl.edu 37 7 92247413 92247413 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145306.1 -1 reviewed p.I269 0.751 152 0% 47 48.9% 2 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SAMD9 54809 genome.wustl.edu 37 7 92732791 92732791 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017654.2 -1 validated p.E874* 0.818 39 0% 67 49.3% 2 0% - - - NULL SAMD9 54809 genome.wustl.edu 37 7 92732941 92732941 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017654.2 -1 validated p.R824* 0.704 53 0% 46 39.1% 0 - - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92762382 92762382 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152703.2 -1 validated p.S968Y 0.674 279 0.4% 33 45.5% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SAMD9L 219285 genome.wustl.edu 37 7 92763008 92763008 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152703.2 -1 validated p.K759N 0.824 291 0% 27 44.4% 1 0% probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL SAMD9L 219285 genome.wustl.edu 37 7 92763714 92763714 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152703.2 -1 validated p.E524A 0.987 101 0% 24 45.8% 0 - benign(0.079) tolerated(0.29) neutral(0.035) NULL SAMD9L 219285 genome.wustl.edu 37 7 92763983 92763983 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152703.2 -1 validated p.F434L 0.924 172 0% 34 26.5% 1 0% possibly_damaging(0.465) deleterious(0) deleterious(0.598) NULL SAMD9L 219285 genome.wustl.edu 37 7 92764304 92764304 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152703.2 -1 validated p.I327M 0.000 309 0% 62 50% 1 0% benign(0) deleterious(0.04) neutral(0.349) NULL SAMD9L 219285 genome.wustl.edu 37 7 92764936 92764936 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152703.2 -1 validated p.S117P 0.359 404 0% 101 19.8% 1 0% possibly_damaging(0.528) deleterious(0.03) deleterious(0.542) NULL CCDC132 55610 genome.wustl.edu 37 7 92881984 92881984 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017667.2 +1 validated p.R41* 1.000 109 0% 56 37.5% 4 0% - - - NULL CCDC132 55610 genome.wustl.edu 37 7 92923898 92923898 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017667.2 +1 validated p.R373C 1.000 72 0% 63 41.3% 10 60% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CCDC132 55610 genome.wustl.edu 37 7 92970744 92970744 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017667.2 +1 validated p.V688 0.736 268 0% 106 45.3% 15 60% - - - NULL BET1 10282 genome.wustl.edu 37 7 93628483 93628483 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005868.4 -1 reviewed p.S48Y 1.000 145 0% 116 36.2% 25 32% benign(0.074) tolerated(0.07) neutral(0.324) HMMPfam_SNARE,HMMSmart_SM00397 COL1A2 1278 genome.wustl.edu 37 7 94059651 94059651 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000089.3 +1 reviewed p.I1349 0.999 208 0% 80 50% 433 8.3% - - - HMMPfam_COLFI,HMMSmart_SM00038 CASD1 64921 genome.wustl.edu 37 7 94176473 94176473 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022900.4 +1 validated p.L567V 1.000 270 0% 134 44.8% 4 50% benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_Cas1p PPP1R9A 55607 genome.wustl.edu 37 7 94539466 94539466 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017650.2 +1 validated p.R14K 1.000 24 0% 27 37% 3 33.3% unknown(0) deleterious(0) - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94539496 94539496 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017650.2 +1 validated p.R24Q 1.000 28 0% 30 43.3% 2 100% unknown(0) tolerated(0.12) - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94539619 94539619 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017650.2 +1 validated p.R65I 1.000 31 0% 45 37.8% 0 - unknown(0) deleterious(0) - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94539735 94539735 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017650.2 +1 validated p.E104* 1.000 32 0% 64 51.6% 0 - - - - NULL PON1 5444 genome.wustl.edu 37 7 94931555 94931555 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000446.5 -1 reviewed p.I291L 0.802 116 0% 77 44.2% 0 - benign(0) tolerated(1) - superfamily_Calcium-dependent phosphotriesterase PON3 5446 genome.wustl.edu 37 7 94991715 94991715 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000940.2 -1 reviewed p.K289E 1.000 139 0% 40 52.5% 0 - - - - superfamily_Calcium-dependent phosphotriesterase DYNC1I1 1780 genome.wustl.edu 37 7 95457425 95457425 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004411.4 +1 validated p.L141R 1.000 889 0% 167 37.7% 0 - benign(0.17) deleterious(0) neutral(0.460) superfamily_WD40 repeat-like SLC25A13 10165 genome.wustl.edu 37 7 95814246 95814246 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014251.2 -1 reviewed p.V337 0.997 139 0% 91 52.7% 26 38.4% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A13 10165 genome.wustl.edu 37 7 95820501 95820501 + Missense_Mutation SNP G G A rs80338719 byCluster TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014251.2 -1 reviewed p.S225L 1.000 269 0% 103 35% 25 44% benign(0.123) deleterious(0) neutral(0.455) superfamily_SSF47473 SHFM1 7979 genome.wustl.edu 37 7 96324195 96324195 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006304.1 -1 reviewed p.G29S 1.000 485 0% 92 57.6% 1023 40.8% benign(0.226) tolerated(0.51) neutral(0.032) HMMPfam_DSS1_SEM1 LMTK2 22853 genome.wustl.edu 37 7 97821707 97821707 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014916.3 +1 reviewed p.D644Y 0.050 28 0% 49 36.7% 6 16.6% possibly_damaging(0.931) deleterious(0) deleterious(0.822) NULL BAIAP2L1 55971 genome.wustl.edu 37 7 97939785 97939785 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018842.4 -1 reviewed p.P309 0.018 121 0% 185 51.9% 26 26.9% - - - NULL TMEM130 222865 genome.wustl.edu 37 7 98449064 98449064 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134450.1 -1 validated p.K329T 0.248 186 0% 90 42.2% 5 0% benign(0.147) tolerated(0.05) neutral(0.358) superfamily_PKD domain TRRAP 8295 genome.wustl.edu 37 7 98479609 98479609 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003496.2 +1 validated p.K38Q 1.000 181 0% 371 48.2% 4 25% unknown(0) tolerated(0.09) - NULL TRRAP 8295 genome.wustl.edu 37 7 98479639 98479639 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003496.2 +1 validated p.N48H 1.000 171 0% 348 43.4% 4 50% unknown(0) tolerated(0.36) - NULL TRRAP 8295 genome.wustl.edu 37 7 98507684 98507684 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000456197 +1 known p.S167L 1.000 56 0% 45 42.2% 3 33.3% - - - superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98579409 98579409 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000456197 +1 known p.R2599Q 0.003 29 0% 14 57.1% 40 50% - - - HMMPfam_FAT,superfamily_ARM repeat,superfamily_Protein prenylyltransferase KPNA7 402569 genome.wustl.edu 37 7 98775641 98775641 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145715.1 -1 validated p.E456* 1.000 550 0% 196 49.5% 0 - - - - superfamily_ARM-type_fold ZNF789 285989 genome.wustl.edu 37 7 99084495 99084495 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_213603.2 +1 validated p.R221I 0.823 108 0% 103 42.7% 8 62.5% possibly_damaging(0.864) deleterious(0) deleterious(0.779) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF789 285989 genome.wustl.edu 37 7 99084983 99084983 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_213603.2 +1 validated p.L384I 0.046 158 0% 159 45.9% 13 53.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CYP3A4 1576 genome.wustl.edu 37 7 99355842 99355842 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017460.3 -1 reviewed p.K476E 0.352 177 0% 84 44% 0 - benign(0.024) tolerated(0.37) neutral(0.020) HMMPfam_p450,superfamily_Cytochrome P450 CYP3A4 1576 genome.wustl.edu 37 7 99358502 99358502 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017460.3 -1 reviewed p.M452I 1.000 623 0.2% 360 42.8% 0 - benign(0.014) tolerated(0.34) neutral(0.024) HMMPfam_p450,superfamily_Cytochrome P450 TRIM4 89122 genome.wustl.edu 37 7 99501222 99501222 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033017.2 -1 reviewed e5-1 1.000 116 0% 103 37.9% 5 100% - - - - ZNF3 7551 genome.wustl.edu 37 7 99672832 99672832 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032924.3 -1 validated p.K66T 0.998 227 0% 142 45.8% 23 52.1% possibly_damaging(0.793) tolerated(0.31) neutral(0.325) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZCWPW1 55063 genome.wustl.edu 37 7 99998874 99998874 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017984.3 -1 validated p.K570N 0.002 194 0% 42 57.1% 0 - possibly_damaging(0.903) - - NULL FBXO24 26261 genome.wustl.edu 37 7 100187668 100187668 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033506.2 +1 reviewed p.P36 0.788 52 0% 37 37.8% 0 - - - - superfamily_F-box domain FBXO24 26261 genome.wustl.edu 37 7 100192016 100192016 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033506.2 +1 reviewed p.K268N 1.000 48 0% 45 33.3% 0 - possibly_damaging(0.837) deleterious(0) deleterious(0.764) superfamily_RCC1/BLIP-II FBXO24 26261 genome.wustl.edu 37 7 100192793 100192793 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033506.2 +1 reviewed p.A341S 1.000 90 0% 50 40% 1 0% possibly_damaging(0.812) tolerated(0.14) deleterious(0.555) superfamily_RCC1/BLIP-II FBXO24 26261 genome.wustl.edu 37 7 100193271 100193271 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033506.2 +1 reviewed p.N383T 1.000 113 0% 96 41.7% 1 100% possibly_damaging(0.916) deleterious(0.04) deleterious(0.716) superfamily_RCC1/BLIP-II ZAN 7455 genome.wustl.edu 37 7 100336166 100336166 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003386.1 +1 reviewed p.K232 0.999 69 0% 83 50.6% 0 - - - - HMMPfam_MAM,HMMSmart_SM00137 ZAN 7455 genome.wustl.edu 37 7 100373384 100373384 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003386.1 +1 reviewed p.R2040S 0.000 107 0% 129 48.8% 0 - unknown(0) tolerated(0.86) - NULL ZAN 7455 genome.wustl.edu 37 7 100377078 100377078 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003386.1 +1 reviewed p.V2109 0.000 41 0% 29 37.9% 0 - unknown(0) tolerated(0.13) - NULL ZAN 7455 genome.wustl.edu 37 7 100386927 100386927 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003386.1 +1 reviewed p.P2438 0.598 166 0% 77 41.6% 0 - benign(0.049) tolerated(0.3) neutral(0.032) NULL MUC12 10071 genome.wustl.edu 37 7 100634997 100634997 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000379442 +1 known p.E528K 0.727 938 0% 447 30% 0 - unknown(0) - - NULL MUC12 10071 genome.wustl.edu 37 7 100639899 100639899 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000379442 +1 known p.T2162A 0.053 1042 0% 947 12.6% 0 - unknown(0) - - NULL MUC12 10071 genome.wustl.edu 37 7 100656367 100656367 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000379442 +1 known p.S5337 0.000 196 0% 66 47% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100675959 100675959 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040105.1 +1 provisional p.K421T 0.001 261 0% 192 47.9% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100678044 100678044 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040105.1 +1 provisional p.S1116Y 0.003 324 0.3% 241 36.1% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100681761 100681761 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040105.1 +1 provisional p.T2355I 0.001 184 0% 186 45.2% 0 - possibly_damaging(0.741) - - NULL MUC17 140453 genome.wustl.edu 37 7 100682595 100682595 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040105.1 +1 provisional p.T2633I 0.004 167 0% 185 43.2% 0 - probably_damaging(0.982) - - NULL MUC17 140453 genome.wustl.edu 37 7 100684768 100684768 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040105.1 +1 provisional p.A3357 0.001 164 0% 240 43.8% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100685396 100685396 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040105.1 +1 provisional p.R3567S 0.000 85 0% 132 47% 0 - probably_damaging(0.98) - - NULL SERPINE1 5054 genome.wustl.edu 37 7 100771699 100771699 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000602.3 +1 reviewed p.C9G 1.000 264 0% 45 42.2% 6 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MOGAT3 346606 genome.wustl.edu 37 7 100843789 100843789 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178176.2 -1 provisional p.F39 0.086 88 0% 119 44.5% 0 - - - - NULL RABL5 64792 genome.wustl.edu 37 7 100962340 100962340 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000430911 -1 known p.R15I 0.001 152 0% 139 45.3% 0 - unknown(0) - - NULL MYL10 93408 genome.wustl.edu 37 7 101267464 101267464 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138403.4 -1 validated p.Q53 1.000 96 0% 60 60% 0 - - - - NULL LOC100289561 100289561 genome.wustl.edu 37 7 102016391 102016391 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342746.1 +1 model p.S46Y 0.785 728 0% 409 41.1% 28 50% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) FBXL13 222235 genome.wustl.edu 37 7 102553597 102553597 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145032.3 -1 validated p.Q315P 0.727 154 0% 82 35.4% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMSmart_SM00367,superfamily_RNI-like NFE4 58160 genome.wustl.edu 37 7 102616628 102616628 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001085386.1 +1 reviewed p.Q169P 0.043 188 0% 49 14.3% 0 - - - - NULL DNAJC2 27000 genome.wustl.edu 37 7 102964084 102964084 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014377.1 -1 reviewed p.F227C 1.000 76 0% 166 47% 23 34.7% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL RELN 5649 genome.wustl.edu 37 7 103131232 103131232 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005045.3 -1 reviewed p.S3163Y 1.000 223 0% 85 49.4% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RELN 5649 genome.wustl.edu 37 7 103136237 103136237 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005045.3 -1 reviewed p.D3101G 1.000 554 0% 116 45.7% 1 0% possibly_damaging(0.485) tolerated(0.22) neutral(0.203) superfamily_Sialidase RELN 5649 genome.wustl.edu 37 7 103155784 103155784 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005045.3 -1 reviewed p.D2656G 1.000 72 0% 21 42.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Sialidase RELN 5649 genome.wustl.edu 37 7 103205953 103205953 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005045.3 -1 reviewed p.S1661Y 0.999 114 0% 34 52.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RELN 5649 genome.wustl.edu 37 7 103234132 103234132 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005045.3 -1 reviewed p.F1303L 1.000 201 0% 65 53.8% 0 - possibly_damaging(0.678) deleterious(0) deleterious(0.686) NULL RELN 5649 genome.wustl.edu 37 7 103294597 103294597 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005045.3 -1 reviewed p.K499N 1.000 518 0% 76 36.8% 0 - benign(0.304) tolerated(0.13) neutral(0.347) NULL RELN 5649 genome.wustl.edu 37 7 103301965 103301965 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005045.3 -1 reviewed p.V433 0.979 164 0% 42 52.4% 0 - - - - NULL RELN 5649 genome.wustl.edu 37 7 103341439 103341439 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005045.3 -1 reviewed p.R274C 1.000 169 0% 44 50% 0 - possibly_damaging(0.806) tolerated(0.06) deleterious(0.626) NULL RELN 5649 genome.wustl.edu 37 7 103363625 103363625 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005045.3 -1 reviewed p.L256R 0.999 107 0% 68 50% 0 - possibly_damaging(0.528) deleterious(0) deleterious(0.623) NULL LHFPL3 375612 genome.wustl.edu 37 7 104377356 104377356 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199000.2 +1 reviewed p.K227R 1.000 152 0% 36 50% 0 - possibly_damaging(0.58) tolerated(0.17) neutral(0.258) NULL MLL5 55904 genome.wustl.edu 37 7 104717562 104717562 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018682.3 +1 reviewed p.L307 0.995 233 0% 83 44.6% 9 44.4% - - - NULL MLL5 55904 genome.wustl.edu 37 7 104746993 104746993 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018682.3 +1 reviewed p.R874Q 1.000 155 0% 86 31.4% 5 0% unknown(0) deleterious(0.01) - NULL MLL5 55904 genome.wustl.edu 37 7 104747135 104747135 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018682.3 +1 reviewed p.E921D 0.998 183 0% 88 48.9% 4 75% unknown(0) deleterious(0.01) - NULL MLL5 55904 genome.wustl.edu 37 7 104747620 104747620 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018682.3 +1 reviewed p.S952Y 1.000 53 0% 127 37.8% 7 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MLL5 55904 genome.wustl.edu 37 7 104747884 104747884 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018682.3 +1 reviewed p.E994* 1.000 99 0% 88 38.6% 18 38.8% - - - NULL ATXN7L1 222255 genome.wustl.edu 37 7 105516933 105516933 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020725.1 -1 validated p.Q24H 1.000 95 0% 100 43% 1 100% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL CDHR3 222256 genome.wustl.edu 37 7 105664947 105664947 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152750.4 +1 validated p.L733I 0.961 340 0% 153 36.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CDHR3 222256 genome.wustl.edu 37 7 105669001 105669001 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000343407 +1 known p.E260K 0.584 118 0% 76 42.1% 0 - unknown(0) deleterious(0) - NULL PIK3CG 5294 genome.wustl.edu 37 7 106526602 106526602 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002649.2 +1 reviewed p.F965 1.000 202 0% 138 44.9% 1 0% - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) COG5 10466 genome.wustl.edu 37 7 106924173 106924173 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006348.3 -1 validated p.E471K 1.000 196 0% 135 48.9% 11 45.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SLC26A4 5172 genome.wustl.edu 37 7 107334850 107334850 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000441.1 +1 reviewed p.V422 0.994 247 0% 40 25% 1 0% - - - HMMPfam_Sulfate_transp SLC26A3 1811 genome.wustl.edu 37 7 107423262 107423262 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000111.2 -1 reviewed p.L431I 1.000 139 0% 47 38.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sulfate_transp LAMB1 3912 genome.wustl.edu 37 7 107571810 107571810 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002291.2 -1 reviewed p.F1510V 1.000 264 0% 229 43.2% 68 38.2% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL LAMB4 22798 genome.wustl.edu 37 7 107684324 107684324 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007356.2 -1 validated p.E1448 0.122 445 0% 276 46% 0 - - - - NULL LAMB4 22798 genome.wustl.edu 37 7 107696164 107696164 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007356.2 -1 validated p.N1223S 0.001 122 0% 70 44.3% 0 - benign(0.007) tolerated(0.42) neutral(0.014) NULL LAMB4 22798 genome.wustl.edu 37 7 107696272 107696272 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007356.2 -1 validated p.S1187Y 0.466 88 0% 71 36.6% 0 - possibly_damaging(0.886) tolerated(0.05) deleterious(0.692) NULL LAMB4 22798 genome.wustl.edu 37 7 107704399 107704399 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007356.2 -1 validated p.F956L 1.000 234 0% 88 46.6% 1 0% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin LAMB4 22798 genome.wustl.edu 37 7 107732123 107732123 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007356.2 -1 validated p.F550S 1.000 105 0% 52 48.1% 0 - possibly_damaging(0.912) deleterious(0.04) deleterious(0.712) HMMSmart_SM00180,superfamily_EGF/Laminin NRCAM 4897 genome.wustl.edu 37 7 107807483 107807483 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037132.1 -1 reviewed p.S1117P 1.000 115 0% 229 46.3% 2 100% benign(0) deleterious(0.02) neutral(0.383) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PNPLA8 50640 genome.wustl.edu 37 7 108137033 108137033 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015723.2 -1 provisional p.I540M 0.997 130 0% 91 49.5% 27 37% benign(0.193) tolerated(0.21) neutral(0.062) HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like THAP5 168451 genome.wustl.edu 37 7 108204963 108204963 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130475.1 -1 validated p.S287Y 0.846 133 0% 230 41.3% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DOCK4 9732 genome.wustl.edu 37 7 111512134 111512134 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014705.3 -1 reviewed p.N647H 1.000 66 0% 99 53.5% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL DOCK4 9732 genome.wustl.edu 37 7 111512549 111512549 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014705.3 -1 reviewed p.E606* 1.000 170 0.6% 176 43.2% 0 - - - - NULL DOCK4 9732 genome.wustl.edu 37 7 111584867 111584867 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000445943 -1 known p.S269L 0.119 301 0% 134 45.5% 0 - - - - NULL C7orf60 154743 genome.wustl.edu 37 7 112462269 112462269 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152556.2 -1 validated p.F250V 1.000 90 0% 41 36.6% 5 40% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113519907 113519907 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002711.3 -1 reviewed p.E414* 0.063 194 0% 41 48.8% 0 - - - - NULL FOXP2 93986 genome.wustl.edu 37 7 114298185 114298185 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148898.2 +1 reviewed p.P469H 1.000 155 0% 33 24.2% 0 - possibly_damaging(0.598) deleterious(0.01) deleterious(0.613) NULL TFEC 22797 genome.wustl.edu 37 7 115581945 115581945 + Splice_Site SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012252.2 -1 validated e6+2 1.000 188 0% 45 40% 0 - - - - - TFEC 22797 genome.wustl.edu 37 7 115582093 115582093 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012252.2 -1 validated p.D173Y 1.000 256 0% 67 41.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain MET 4233 genome.wustl.edu 37 7 116371806 116371806 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127500.1 +1 reviewed p.L429V 1.000 320 0% 50 46% 4 50% possibly_damaging(0.934) deleterious(0.01) deleterious(0.786) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema CAPZA2 830 genome.wustl.edu 37 7 116544373 116544373 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006136.2 +1 reviewed p.R121I 1.000 161 0% 77 50.6% 82 43.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F-actin_cap_A,superfamily_Subunits of heterodimeric actin filament capping protein Capz WNT2 7472 genome.wustl.edu 37 7 116955202 116955202 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003391.2 -1 reviewed p.F171L 0.998 168 0% 81 42% 12 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_wnt,HMMSmart_SM00097 ASZ1 136991 genome.wustl.edu 37 7 117007450 117007450 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130768.2 -1 validated p.D411N 1.000 98 0% 77 46.8% 0 - benign(0.103) tolerated(0.07) neutral(0.327) NULL ASZ1 136991 genome.wustl.edu 37 7 117008576 117008576 + RNA SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_023315.1 -1 validated NULL 0.018 58 0% 34 50% 0 - - - - - ASZ1 136991 genome.wustl.edu 37 7 117021076 117021076 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130768.2 -1 validated p.E312* 1.000 180 0% 41 53.7% 0 - - - - superfamily_SAM_homology,HMMPfam_SAM_2 CFTR 1080 genome.wustl.edu 37 7 117232586 117232586 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000492.3 +1 reviewed p.A789S 0.000 86 0% 46 41.3% 0 - benign(0) tolerated(0.7) neutral(0.002) NULL CTTNBP2 83992 genome.wustl.edu 37 7 117432674 117432674 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033427.2 -1 reviewed p.L192 0.158 606 0% 198 44.4% 2 0% - - - HMMPfam_CortBP2 KCND2 3751 genome.wustl.edu 37 7 119914938 119914938 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012281.2 +1 reviewed p.F84L 0.989 27 0% 34 44.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCND2 3751 genome.wustl.edu 37 7 119915338 119915338 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012281.2 +1 reviewed p.E218* 1.000 78 0% 68 44.1% 0 - - - - superfamily_Voltage-gated potassium channels KCND2 3751 genome.wustl.edu 37 7 120385963 120385963 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012281.2 +1 reviewed p.R533* 0.236 128 0% 16 43.8% 0 - - - - NULL TSPAN12 23554 genome.wustl.edu 37 7 120446662 120446662 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012338.3 -1 reviewed p.E185* 1.000 88 0% 50 40% 6 16.6% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin ING3 54556 genome.wustl.edu 37 7 120609222 120609222 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019071.2 +1 reviewed p.S291* 1.000 122 0% 36 44.4% 4 0% - - - NULL C7orf58 79974 genome.wustl.edu 37 7 120629922 120629922 + Nonsense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024913.4 +1 validated p.K83* 0.937 118 0% 43 30.2% 2 0% - - - NULL C7orf58 79974 genome.wustl.edu 37 7 120780957 120780957 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024913.4 +1 validated p.K592N 0.998 112 0% 18 61.1% 0 - benign(0.018) tolerated(0.37) neutral(0.019) NULL FAM3C 10447 genome.wustl.edu 37 7 121018994 121018994 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040020.1 -1 reviewed p.K30Q 1.000 58 0% 28 46.4% 35 45.7% possibly_damaging(0.849) tolerated(0.38) neutral(0.344) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121608078 121608078 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002851.2 +1 reviewed p.I66M 1.000 118 0% 57 45.6% 0 - possibly_damaging(0.92) deleterious(0) deleterious(0.816) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase PTPRZ1 5803 genome.wustl.edu 37 7 121623864 121623864 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002851.2 +1 reviewed p.I255 1.000 163 0% 146 44.5% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase PTPRZ1 5803 genome.wustl.edu 37 7 121624030 121624030 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002851.2 +1 reviewed p.F263V 1.000 243 0% 283 45.2% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase PTPRZ1 5803 genome.wustl.edu 37 7 121651425 121651425 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002851.2 +1 reviewed p.L775 1.000 313 0% 55 40% 0 - - - - NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652624 121652624 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002851.2 +1 reviewed p.S1175Y 0.999 301 0% 153 45.8% 0 - possibly_damaging(0.63) deleterious(0) deleterious(0.664) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121681022 121681022 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002851.2 +1 reviewed p.V1930 0.510 30 0.000 4 1.000 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II AASS 10157 genome.wustl.edu 37 7 121766507 121766507 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005763.3 -1 reviewed p.R132C 1.000 281 0% 80 32.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AlaDh_PNT_N,superfamily_Formate/glycerate dehydrogenase catalytic domain-like CADPS2 93664 genome.wustl.edu 37 7 122028792 122028792 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000397721 -1 known p.Q606* 1.000 180 0% 31 45.2% 5 0% - - - NULL CADPS2 93664 genome.wustl.edu 37 7 122303554 122303554 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017954.10 -1 reviewed p.E175* 1.000 217 0% 51 45.1% 1 0% - - - NULL RNF133 168433 genome.wustl.edu 37 7 122338487 122338487 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139175.1 -1 reviewed p.E162D 1.000 114 0% 50 42% 1 100% possibly_damaging(0.868) tolerated(0.12) deleterious(0.598) HMMPfam_PA,superfamily_SSF52025 RNF148 378925 genome.wustl.edu 37 7 122342489 122342489 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198085.1 -1 validated p.E106K 1.000 209 0% 30 33.3% 0 - benign(0.031) tolerated(0.41) neutral(0.017) HMMPfam_PA,superfamily_SSF52025 SLC13A1 6561 genome.wustl.edu 37 7 122787340 122787340 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022444.3 -1 validated p.R229* 1.000 539 0% 38 50% 0 - - - - HMMPfam_Na_sulph_symp IQUB 154865 genome.wustl.edu 37 7 123092880 123092880 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178827.4 -1 validated p.D765Y 0.001 308 0% 118 43.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL IQUB 154865 genome.wustl.edu 37 7 123152263 123152263 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178827.4 -1 validated p.E44 0.000 292 0% 69 53.6% 0 - - - - NULL LMOD2 442721 genome.wustl.edu 37 7 123302466 123302466 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207163.1 +1 validated p.E276K 1.000 131 0% 29 48.3% 0 - possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMPfam_Tropomodulin,superfamily_RNI-like HYAL4 23553 genome.wustl.edu 37 7 123508904 123508904 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012269.2 +1 reviewed p.E193* 0.513 67 0% 77 40.3% 0 - - - - HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat GRM8 2918 genome.wustl.edu 37 7 126746558 126746558 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000845.2 -1 reviewed p.R240M 1.000 189 0% 22 45.5% 0 - possibly_damaging(0.9) deleterious(0.01) deleterious(0.762) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM8 2918 genome.wustl.edu 37 7 126882759 126882759 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000845.2 -1 reviewed p.R167I 1.000 73 0% 31 32.3% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,superfamily_Periplasmic binding protein-like I ZNF800 168850 genome.wustl.edu 37 7 127014678 127014678 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000265827 -1 known p.E238* 1.000 351 0% 131 42.7% 7 42.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 GCC1 79571 genome.wustl.edu 37 7 127222946 127222946 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024523.5 -1 reviewed p.E484K 1.000 117 0% 98 14.3% 23 13% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LEP 3952 genome.wustl.edu 37 7 127894784 127894784 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000230.2 +1 reviewed p.L158 0.384 24 0% 19 47.4% 0 - - - - HMMPfam_Leptin,superfamily_4-helical cytokines METTL2B 55798 genome.wustl.edu 37 7 128119443 128119443 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018396.2 +1 reviewed p.S145L 0.054 297 0% 312 17.3% 49 24.4% benign(0) tolerated(0.06) neutral(0.323) superfamily_S-adenosyl-L-methionine-dependent methyltransferases OPN1SW 611 genome.wustl.edu 37 7 128415539 128415539 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001708.2 -1 reviewed p.F102 0.983 93 0% 72 47.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OPN1SW 611 genome.wustl.edu 37 7 128415570 128415570 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001708.2 -1 reviewed p.F92Y 0.996 91 0% 77 44.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OPN1SW 611 genome.wustl.edu 37 7 128415720 128415720 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001708.2 -1 reviewed p.G42D 0.992 70 0% 52 44.2% 0 - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) superfamily_Family A G protein-coupled receptor-like CCDC136 64753 genome.wustl.edu 37 7 128441514 128441514 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000494552 +1 known p.A84V 0.248 34 0% 60 35% 0 - - - - NULL TNPO3 23534 genome.wustl.edu 37 7 128655106 128655106 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012470.2 -1 validated p.R160Q 1.000 231 0% 83 54.2% 20 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Xpo1,superfamily_ARM repeat CPA2 1358 genome.wustl.edu 37 7 129909595 129909595 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001869.2 +1 reviewed p.F80L 0.949 218 0% 126 42.1% 0 - benign(0.078) tolerated(0.17) neutral(0.065) HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors CPA2 1358 genome.wustl.edu 37 7 129921972 129921972 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001869.2 +1 reviewed p.S339Y 0.000 118 0% 75 58.7% 0 - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPA4 51200 genome.wustl.edu 37 7 129945686 129945686 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016352.3 +1 reviewed p.A173T 0.998 70 0% 18 50% 3 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Zn-dependent exopeptidases CPA5 93979 genome.wustl.edu 37 7 129987617 129987617 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127441.1 +1 validated p.L43I 1.000 127 0% 58 67.2% 0 - probably_damaging(0.99) tolerated(0.06) deleterious(0.764) HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors CPA5 93979 genome.wustl.edu 37 7 129989897 129989897 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127441.1 +1 validated p.A94T 0.374 96 1% 63 33.3% 0 - probably_damaging(0.979) tolerated(0.24) neutral(0.459) HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors CPA5 93979 genome.wustl.edu 37 7 130007750 130007750 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127441.1 +1 validated p.D348N 0.000 104 0% 53 41.5% 0 - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases MKLN1 4289 genome.wustl.edu 37 7 131128390 131128390 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013255.4 +1 validated p.R442* 1.000 325 0% 90 55.6% 5 20% - - - superfamily_Galactose oxidase central domain MKLN1 4289 genome.wustl.edu 37 7 131130592 131130592 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013255.4 +1 validated p.F485L 1.000 540 0% 296 47% 5 20% benign(0.054) tolerated(0.25) neutral(0.041) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain MKLN1 4289 genome.wustl.edu 37 7 131155701 131155701 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013255.4 +1 validated p.E677* 1.000 118 0% 187 36.9% 8 75% - - - NULL PLXNA4 91584 genome.wustl.edu 37 7 131895883 131895883 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020911.1 -1 validated p.R706Q 0.951 35 0% 13 46.2% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL PLXNA4 91584 genome.wustl.edu 37 7 132192395 132192395 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020911.1 -1 validated p.S353L 1.000 50 0% 37 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain LRGUK 136332 genome.wustl.edu 37 7 133859356 133859356 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144648.1 +1 provisional p.R330* 0.993 142 0% 88 39.8% 0 - - - - superfamily_SSF52058 LRGUK 136332 genome.wustl.edu 37 7 133943070 133943070 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144648.1 +1 provisional p.E754* 0.232 213 0% 97 52.6% 0 - - - - NULL AKR1B15 441282 genome.wustl.edu 37 7 134262485 134262485 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080538.2 +1 validated p.E285 0.973 190 0% 116 45.7% 0 - - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase CALD1 800 genome.wustl.edu 37 7 134635130 134635130 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033138.3 +1 reviewed p.E600D 1.000 100 0% 67 43.3% 94 36.1% unknown(0) tolerated(0.17) - HMMPfam_Caldesmon AGBL3 340351 genome.wustl.edu 37 7 134719137 134719137 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178563.3 +1 provisional p.Y265* 0.999 141 0% 48 39.6% 0 - - - - NULL C7orf49 78996 genome.wustl.edu 37 7 134852528 134852528 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024033.2 -1 validated p.N57H 1.000 178 0% 112 43.8% 56 48.2% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL NUP205 23165 genome.wustl.edu 37 7 135312785 135312785 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015135.2 +1 validated p.L1620I 1.000 250 0% 75 42.7% 43 44.1% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SLC13A4 26266 genome.wustl.edu 37 7 135368877 135368877 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012450.2 -1 validated p.D580Y 1.000 108 0% 24 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_sulph_symp CHRM2 1129 genome.wustl.edu 37 7 136700589 136700589 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000739.2 +1 reviewed p.R326K 1.000 116 0% 18 44.4% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DGKI 9162 genome.wustl.edu 37 7 137148349 137148349 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004717.2 -1 reviewed p.D882G 1.000 142 0% 37 54.1% 0 - benign(0.256) tolerated(0.43) neutral(0.040) NULL DGKI 9162 genome.wustl.edu 37 7 137263038 137263038 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004717.2 -1 reviewed p.R559Q 1.000 56 0% 60 56.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DAGK_acc,HMMSmart_DAGKa DGKI 9162 genome.wustl.edu 37 7 137269969 137269969 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004717.2 -1 reviewed p.D517Y 1.000 147 0% 98 43.9% 0 - possibly_damaging(0.631) deleterious(0) deleterious(0.665) NULL DGKI 9162 genome.wustl.edu 37 7 137271876 137271876 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004717.2 -1 reviewed p.G464 0.993 88 0% 44 45.5% 0 - - - - HMMPfam_DAGK_cat,HMMSmart_DAGKc DGKI 9162 genome.wustl.edu 37 7 137330279 137330279 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004717.2 -1 reviewed p.F248Y 1.000 132 0% 40 50% 0 - possibly_damaging(0.446) tolerated(1) neutral(0.146) NULL CREB3L2 64764 genome.wustl.edu 37 7 137590553 137590553 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194071.2 -1 validated p.E270 1.000 246 0% 98 42.9% 5 20% - - - superfamily_A DNA-binding domain in eukaryotic transcription factors TRIM24 8805 genome.wustl.edu 37 7 138262238 138262238 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015905.2 +1 reviewed p.R721* 1.000 105 0% 63 65.1% 23 13% - - - NULL SVOPL 136306 genome.wustl.edu 37 7 138281258 138281258 + Silent SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001139456.1 -1 validated p.S457 0.531 149 0% 50 58% 0 - - - - superfamily_MFS general substrate transporter ZC3HAV1 56829 genome.wustl.edu 37 7 138764908 138764908 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020119.3 -1 reviewed p.F260C 0.012 35 0% 20 60% 11 27.2% possibly_damaging(0.699) deleterious(0.01) deleterious(0.657) NULL TTC26 79989 genome.wustl.edu 37 7 138863041 138863041 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024926.2 +1 validated p.S384* 1.000 118 0% 192 39.6% 8 0% - - - superfamily_SSF48452 LUC7L2 51631 genome.wustl.edu 37 7 139090513 139090513 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016019.2 +1 validated p.A164T 1.000 188 0% 182 42.3% 85 36.4% benign(0.01) tolerated(0.24) neutral(0.038) HMMPfam_LUC7 LUC7L2 51631 genome.wustl.edu 37 7 139094332 139094332 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016019.2 +1 validated p.E237D 1.000 132 0% 113 49.6% 114 42.1% unknown(0) tolerated(0.06) - HMMPfam_LUC7 LUC7L2 51631 genome.wustl.edu 37 7 139106919 139106919 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016019.2 +1 validated p.E338* 1.000 114 0% 85 41.2% 111 41.4% - - - NULL HIPK2 28996 genome.wustl.edu 37 7 139311466 139311466 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022740.4 -1 validated p.S151L 1.000 413 0.2% 146 40.4% 13 38.4% - - - NULL HIPK2 28996 genome.wustl.edu 37 7 139316027 139316027 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022740.4 -1 validated p.F61L 1.000 169 0% 102 39.2% 6 33.3% - - - NULL JHDM1D 80853 genome.wustl.edu 37 7 139829361 139829361 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030647.1 -1 validated p.K164T 1.000 181 0% 137 43.1% 5 40% possibly_damaging(0.683) deleterious(0.04) deleterious(0.593) superfamily_Clavaminate synthase-like BRAF 673 genome.wustl.edu 37 7 140482879 140482879 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004333.4 -1 reviewed p.S419Y 1.000 127 0% 92 43.5% 9 44.4% possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL AGK 55750 genome.wustl.edu 37 7 141255292 141255292 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018238.3 +1 validated p.R9Q 1.000 100 0% 68 51.5% 8 37.5% probably_damaging(0.963) deleterious(0) deleterious(0.850) NULL KIAA1147 57189 genome.wustl.edu 37 7 141362477 141362477 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080392.1 -1 provisional p.I449 0.997 70 0% 30 53.3% 8 12.5% - - - HMMPfam_DUF2347 WEE2 494551 genome.wustl.edu 37 7 141418917 141418917 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105558.1 +1 validated p.E211* 1.000 183 0% 121 45.5% 0 - - - - superfamily_Kinase_like TAS2R4 50832 genome.wustl.edu 37 7 141478600 141478600 + Silent SNP C C T rs183276675 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016944.1 +1 reviewed p.I104 0.950 411 0% 196 52% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 MGAM 8972 genome.wustl.edu 37 7 141719073 141719073 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004668.2 +1 reviewed p.K134N 0.988 113 0% 26 53.8% 0 - benign(0) tolerated(0.5) neutral(0.010) NULL MGAM 8972 genome.wustl.edu 37 7 141754657 141754657 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004668.2 +1 reviewed p.K1088T 0.053 85 0% 53 32.1% 0 - benign(0.004) tolerated(0.32) neutral(0.024) NULL MGAM 8972 genome.wustl.edu 37 7 141758071 141758071 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004668.2 +1 reviewed p.Q1254H 0.995 290 0.3% 86 40.7% 0 - benign(0.01) tolerated(0.11) neutral(0.272) HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141759293 141759293 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004668.2 +1 reviewed p.D1281N 1.000 109 0% 24 54.2% 0 - probably_damaging(0.977) tolerated(0.08) deleterious(0.719) HMMPfam_Glyco_hydro_31 TRBV4-1 28617 genome.wustl.edu 37 7 142013358 142013358 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390357 +1 known p.E71D 0.000 161 0% 106 39.6% 1 0% benign(0.255) tolerated(0.32) neutral(0.051) HMMPfam_V-set,superfamily_Immunoglobulin TRBV5-1 28614 genome.wustl.edu 37 7 142021215 142021215 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390381 +1 known p.L65 0.000 97 0% 78 46.2% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 TRBV5-6 28609 genome.wustl.edu 37 7 142131847 142131847 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390375 -1 known p.L11I 0.000 153 0% 49 42.9% 0 - possibly_damaging(0.556) tolerated(0.19) neutral(0.239) NULL TRBV7-6 28592 genome.wustl.edu 37 7 142139540 142139540 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390374 -1 known p.Y29H 0.001 114 0% 99 38.4% 0 - benign(0.001) tolerated(1) - HMMPfam_V-set,superfamily_Immunoglobulin TRBV6-6 28601 genome.wustl.edu 37 7 142162112 142162112 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390371 -1 known p.R55* 0.493 261 0.4% 139 41.7% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TRBV11-1 28582 genome.wustl.edu 37 7 142223873 142223873 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390367 -1 known p.I98 0.000 179 0% 89 36% 1 100% - - - HMMPfam_V-set,superfamily_SSF48726 TRBV10-1 28585 genome.wustl.edu 37 7 142232005 142232005 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390364 -1 known p.F6L 0.005 174 0% 37 35.1% 0 - benign(0.001) tolerated(1) - NULL TRBV7-3 28595 genome.wustl.edu 37 7 142247204 142247204 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390361 -1 known p.F84L 0.029 111 0% 58 43.1% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_V-set,superfamily_Immunoglobulin TRBV24-1 28563 genome.wustl.edu 37 7 142364684 142364684 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390397 +1 known p.L107I 0.007 243 0% 33 60.6% 0 - benign(0.066) tolerated(0.18) neutral(0.060) HMMPfam_V-set,superfamily_SSF48726 TRBV25-1 28562 genome.wustl.edu 37 7 142379064 142379064 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390398 +1 known p.A111V 0.999 107 0% 25 68% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_V-set,superfamily_Immunoglobulin TRBV27 28560 genome.wustl.edu 37 7 142423604 142423604 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390399 +1 known p.R87Q 0.001 130 0% 17 70.6% 2 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin EPHB6 2051 genome.wustl.edu 37 7 142563849 142563849 + Missense_Mutation SNP C C T rs184081355 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004445.3 +1 reviewed p.R413C 0.000 23 0% 17 52.9% 3 33.3% benign(0.022) deleterious(0.04) neutral(0.350) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TRPV6 55503 genome.wustl.edu 37 7 142571386 142571386 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018646.2 -1 validated p.E535K 0.994 141 0% 66 56.1% 11 36.3% probably_damaging(0.985) tolerated(0.21) deleterious(0.476) HMMPfam_Ion_trans PIP 5304 genome.wustl.edu 37 7 142832305 142832305 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002652.2 +1 validated p.K38N 0.000 107 0% 49 42.9% 0 - benign(0.274) tolerated(0.32) neutral(0.053) HMMPfam_SVA TAS2R40 259286 genome.wustl.edu 37 7 142919387 142919387 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176882.1 +1 provisional p.I72M 0.018 236 0% 78 35.9% 0 - possibly_damaging(0.918) tolerated(0.22) neutral(0.410) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like GSTK1 373156 genome.wustl.edu 37 7 142961259 142961259 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143679.1 +1 reviewed p.S51 0.328 100 0% 21 38.1% 149 48.3% - - - HMMPfam_DSBA,superfamily_Thiordxn-like_fd CLCN1 1180 genome.wustl.edu 37 7 143039081 143039081 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000083.2 +1 reviewed p.E548K 1.000 177 0% 50 48% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel EPHA1 2041 genome.wustl.edu 37 7 143095477 143095477 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005232.4 -1 reviewed p.W467C 1.000 55 0% 32 34.4% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TAS2R41 259287 genome.wustl.edu 37 7 143175437 143175437 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176883.2 +1 provisional p.E158* 0.000 60 0% 57 43.9% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 CTAGE6P 340307 genome.wustl.edu 37 7 143453526 143453526 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178561.4 -1 validated p.R409Q 0.002 409 0% 453 39.7% 0 - - - - NULL CTAGE6P 340307 genome.wustl.edu 37 7 143453804 143453804 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178561.4 -1 validated p.K316N 0.183 319 0% 343 20.1% 3 0% - - - NULL OR2A25 392138 genome.wustl.edu 37 7 143772122 143772122 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004488.1 +1 provisional p.K270N 0.992 209 0% 140 45.7% 0 - benign(0.028) tolerated(0.24) neutral(0.039) HMMPfam_7tm_1,superfamily_SSF81321 OR2A2 442361 genome.wustl.edu 37 7 143806912 143806912 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005480.2 +1 validated p.K79N 0.222 356 0% 115 42.6% 0 - benign(0.012) deleterious(0.05) neutral(0.346) HMMPfam_7tm_1,superfamily_SSF81321 LOC728377 728377 genome.wustl.edu 37 7 143983191 143983191 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_078379.1 -1 model NULL 0.001 2425 0% 631 12.8% 22 0% - - - - NOBOX 135935 genome.wustl.edu 37 7 144098969 144098969 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080413.2 -1 provisional p.L95 0.000 51 0% 107 57% 0 - - - - NULL CNTNAP2 26047 genome.wustl.edu 37 7 146997332 146997332 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014141.5 +1 reviewed p.R483Q 0.998 195 0% 31 45.2% 0 - probably_damaging(1) tolerated(0.63) deleterious(0.503) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CNTNAP2 26047 genome.wustl.edu 37 7 147600793 147600793 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014141.5 +1 reviewed p.C745 0.217 89 0% 34 44.1% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases LOC643438 643438 genome.wustl.edu 37 7 148334479 148334479 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_015310.2 +1 model NULL 1.000 248 0% 43 37.2% 0 - - - - - CUL1 8454 genome.wustl.edu 37 7 148454241 148454241 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003592.2 +1 validated p.S161L 1.000 121 0% 141 48.9% 29 41.3% benign(0.05) tolerated(0.05) neutral(0.348) HMMPfam_Cullin,superfamily_Cullin repeat PDIA4 9601 genome.wustl.edu 37 7 148718165 148718165 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004911.4 -1 validated p.D55N 1.000 235 0% 278 39.9% 303 41.5% benign(0.081) tolerated(0.08) neutral(0.306) NULL ZNF786 136051 genome.wustl.edu 37 7 148769119 148769119 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152411.3 -1 validated p.F249L 0.984 11 0% 22 45.5% 14 71.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100288645 100288645 genome.wustl.edu 37 7 149152610 149152610 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342805.1 +1 model p.R156I 0.991 20 0% 46 50% 22 31.8% - - - NULL SSPO 23145 genome.wustl.edu 37 7 149475925 149475925 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000378016 +1 known p.V297 0.016 13 0% 50 50% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 ZNF862 643641 genome.wustl.edu 37 7 149544977 149544977 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099220.1 +1 provisional p.K132T 0.001 51 0% 57 61.4% 10 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ATP6V0E2 155066 genome.wustl.edu 37 7 149575806 149575806 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145230.2 +1 validated p.F113 0.975 6 0.000 16 0.438 106 52.8% - - - HMMPfam_ATP_synt_H RARRES2 5919 genome.wustl.edu 37 7 150036171 150036171 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002889.3 -1 reviewed e3-1 1.000 63 1.6% 30 23.3% 0 - - - - - GIMAP7 168537 genome.wustl.edu 37 7 150217565 150217565 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153236.3 +1 reviewed p.S168N 0.804 90 0% 39 46.2% 4 0% benign(0.001) tolerated(1) - HMMPfam_AIG1,superfamily_SSF52540 GIMAP7 168537 genome.wustl.edu 37 7 150217807 150217807 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153236.3 +1 reviewed p.E249* 0.000 64 1.6% 51 41.2% 1 0% - - - NULL GIMAP4 55303 genome.wustl.edu 37 7 150269349 150269349 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018326.2 +1 reviewed p.S64Y 0.068 282 0% 73 45.2% 14 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AIG1,superfamily_SSF52540 GIMAP6 474344 genome.wustl.edu 37 7 150324683 150324683 + RNA SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_024115.1 -1 reviewed NULL 0.000 9 0.000 10 0.400 0 - - - - - ATG9B 285973 genome.wustl.edu 37 7 150710498 150710498 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173681.5 -1 validated e11-2 0.000 20 0% 12 33.3% 1 0% - - - - ASIC3 9311 genome.wustl.edu 37 7 150747295 150747295 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020321.2 +1 reviewed p.M213L 1.000 46 0% 45 48.9% 0 - probably_damaging(0.972) tolerated(0.19) neutral(0.463) HMMPfam_ASC SLC4A2 6522 genome.wustl.edu 37 7 150767965 150767965 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003040.3 +1 validated p.I572 0.101 70 0% 49 38.8% 173 47.9% - - - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A2 6522 genome.wustl.edu 37 7 150768280 150768280 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003040.3 +1 validated p.R624H 0.998 20 0% 15 40% 157 52.2% benign(0.155) tolerated(0.13) neutral(0.266) superfamily_Phoshotransferase/anion transport protein ASB10 136371 genome.wustl.edu 37 7 150878277 150878277 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142459.1 -1 reviewed p.A330T 0.998 5 0.000 8 0.625 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat GALNTL5 168391 genome.wustl.edu 37 7 151664346 151664346 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145292.3 +1 validated p.I5 0.000 77 0% 99 12.1% 0 - - - - NULL GALNT11 63917 genome.wustl.edu 37 7 151791477 151791477 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022087.2 +1 validated p.F55L 1.000 157 0% 94 42.6% 16 50% benign(0.356) tolerated(1) neutral(0.113) NULL GALNT11 63917 genome.wustl.edu 37 7 151814458 151814458 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000452146 +1 known p.K278T 0.990 42 0% 98 33.7% 30 33.3% - - - HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins MLL3 58508 genome.wustl.edu 37 7 151848638 151848638 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000360104 -1 known p.W1746R 0.000 109 0% 79 34.2% 10 50% - - - NULL MLL3 58508 genome.wustl.edu 37 7 151877083 151877083 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170606.2 -1 reviewed p.E2426D 0.001 146 0% 52 51.9% 3 100% benign(0.076) - - NULL MLL3 58508 genome.wustl.edu 37 7 151879016 151879016 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170606.2 -1 reviewed p.Q1977K 0.386 173 0% 76 44.7% 6 33.3% benign(0.427) - - NULL MLL3 58508 genome.wustl.edu 37 7 151917797 151917797 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170606.2 -1 reviewed p.D1175N 1.000 131 0% 165 46.1% 1 0% probably_damaging(1) - - NULL MLL3 58508 genome.wustl.edu 37 7 151945463 151945463 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170606.2 -1 reviewed p.K686Q 0.000 203 0% 97 40.2% 1 0% benign(0.005) - - NULL XRCC2 7516 genome.wustl.edu 37 7 152345999 152345999 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005431.1 -1 reviewed p.L191I 0.990 101 0% 101 42.6% 5 80% benign(0.053) tolerated(0.63) neutral(0.007) superfamily_P-loop containing nucleoside triphosphate hydrolases DPP6 1804 genome.wustl.edu 37 7 154172024 154172024 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000377770 +1 known p.A120V 1.000 99 1% 48 33.3% 1 0% benign(0.001) tolerated(0.26) neutral(0.034) NULL DPP6 1804 genome.wustl.edu 37 7 154561163 154561163 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000377770 +1 known p.S307Y 1.000 129 0% 70 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP6 1804 genome.wustl.edu 37 7 154681005 154681005 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000377770 +1 known p.V776 0.983 55 0% 73 37% 1 0% - - - HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases HTR5A 3361 genome.wustl.edu 37 7 154862739 154862739 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024012.2 +1 reviewed p.L44I 0.971 58 0% 56 41.1% 0 - benign(0.229) tolerated(0.26) neutral(0.057) superfamily_Family A G protein-coupled receptor-like ENSG00000220575 0 genome.wustl.edu 37 7 154862861 154862861 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000395731 -1 known p.E51D 1.000 44 0% 28 50% 0 - unknown(0) - - NULL EN2 2020 genome.wustl.edu 37 7 155255078 155255078 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001427.3 +1 reviewed p.R233Q 1.000 11 0% 26 53.8% 86 43% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CNPY1 285888 genome.wustl.edu 37 7 155301642 155301642 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001103176.1 -1 validated p.E31* 0.999 36 0% 94 37.2% 0 - - - - NULL SHH 6469 genome.wustl.edu 37 7 155599185 155599185 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000193.2 -1 reviewed p.R123W 1.000 9 0.000 36 0.583 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HH_signal,superfamily_Hedgehog_sig_N UBE3C 9690 genome.wustl.edu 37 7 156975019 156975019 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014671.2 +1 validated p.L330 0.498 117 0% 118 41.5% 31 48.3% - - - NULL PTPRN2 5799 genome.wustl.edu 37 7 157691389 157691389 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002847.3 -1 reviewed p.K588N 0.002 131 0% 127 48% 0 - possibly_damaging(0.891) tolerated(0.05) deleterious(0.696) NULL ENSG00000186921 0 genome.wustl.edu 37 7 158415278 158415278 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000335132 -1 known p.E132* 0.030 148 0% 216 52.3% 2 0% - - - NULL NCAPG2 54892 genome.wustl.edu 37 7 158472673 158472673 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017760.5 -1 validated p.Q375H 1.000 131 0% 106 43.4% 5 20% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) superfamily_ARM repeat WDR60 55112 genome.wustl.edu 37 7 158727197 158727197 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018051.4 +1 validated p.V912A 0.988 209 0% 186 49.5% 13 53.8% possibly_damaging(0.695) deleterious(0.04) deleterious(0.598) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 VIPR2 7434 genome.wustl.edu 37 7 158829582 158829582 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003382.4 -1 validated p.K203N 1.000 43 0% 34 41.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2,superfamily_SSF81321 ZNF596 169270 genome.wustl.edu 37 8 195793 195793 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042415.1 +1 validated p.F316V 0.876 79 0% 73 49.3% 5 20% probably_damaging(0.99) deleterious(0) deleterious(0.886) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 C8orf42 157695 genome.wustl.edu 37 8 442705 442705 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175075.3 -1 validated p.K84N 1.000 199 0% 273 52.7% 11 27.2% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL DLGAP2 9228 genome.wustl.edu 37 8 1626785 1626785 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004745.3 +1 reviewed p.L818 0.945 16 0% 26 46.2% 0 - - - - HMMPfam_GKAP CSMD1 64478 genome.wustl.edu 37 8 3226828 3226828 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033225.5 -1 validated p.F950L 1.000 214 0% 48 45.8% 0 - probably_damaging(0.998) tolerated(0.72) deleterious(0.476) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MCPH1 79648 genome.wustl.edu 37 8 6338338 6338338 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024596.3 +1 reviewed p.R693C 0.998 228 0% 97 44.3% 27 51.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain XKR5 389610 genome.wustl.edu 37 8 6682864 6682864 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207411.4 -1 validated p.D84N 1.000 21 0% 32 50% 0 - - - - HMMPfam_XK-related ZNF705G 100131980 genome.wustl.edu 37 8 7215909 7215909 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000400156 -1 known p.Q164H 0.014 289 0% 376 29.8% 0 - benign(0.018) deleterious(0.04) neutral(0.349) superfamily_SSF57667 DEFB4A 1673 genome.wustl.edu 37 8 7752280 7752280 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004942.2 +1 reviewed p.M16V 0.000 665 0% 415 22.4% 0 - unknown(0) deleterious(0.05) - NULL SGK223 157285 genome.wustl.edu 37 8 8185952 8185952 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080826.1 -1 validated p.S780 0.086 21 0% 13 38.5% 21 33.3% - - - NULL MFHAS1 9258 genome.wustl.edu 37 8 8749742 8749742 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004225.2 -1 reviewed p.K276T 1.000 19 0% 16 56.2% 18 38.8% possibly_damaging(0.793) tolerated(0.18) neutral(0.354) HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like TNKS 8658 genome.wustl.edu 37 8 9537498 9537498 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003747.2 +1 validated e4+1 1.000 136 0% 74 40.5% 0 - - - - - TNKS 8658 genome.wustl.edu 37 8 9619099 9619099 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003747.2 +1 validated p.R1076H 1.000 89 0% 151 44.4% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 RP1L1 94137 genome.wustl.edu 37 8 10466515 10466515 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178857.5 -1 validated p.G1698E 0.042 87 0% 58 43.1% 3 33.3% unknown(0) tolerated(0.11) - NULL MTMR9 66036 genome.wustl.edu 37 8 11167068 11167068 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015458.3 +1 reviewed p.L281R 0.999 86 0% 37 40.5% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF52799 FAM167A 83648 genome.wustl.edu 37 8 11282042 11282042 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053279.2 -1 validated p.R162M 1.000 75 0% 74 50% 7 14.2% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL GATA4 2626 genome.wustl.edu 37 8 11606535 11606535 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002052.3 +1 reviewed p.G242S 1.000 112 0% 42 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GATA,HMMSmart_SM00401,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NEIL2 252969 genome.wustl.edu 37 8 11637401 11637401 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135746.1 +1 validated p.D145N 0.997 38 0% 42 42.9% 18 33.3% benign(0.034) deleterious(0.01) neutral(0.408) NULL DLC1 10395 genome.wustl.edu 37 8 12947836 12947836 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182643.2 -1 reviewed p.F1333L 0.929 109 0% 58 46.6% 2 0% benign(0) tolerated(1) - HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like DLC1 10395 genome.wustl.edu 37 8 13356943 13356943 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182643.2 -1 reviewed p.T213N 0.148 195 0% 104 44.2% 0 - benign(0.026) deleterious(0.01) neutral(0.407) NULL C8orf48 157773 genome.wustl.edu 37 8 13425332 13425332 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007090.2 +1 validated p.R278 0.003 82 0% 56 42.9% 7 28.5% - - - NULL SGCZ 137868 genome.wustl.edu 37 8 13948042 13948042 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139167.2 -1 reviewed p.L283 0.996 276 0% 15 40% 0 - - - - HMMPfam_Sarcoglycan_1 SGCZ 137868 genome.wustl.edu 37 8 14412379 14412379 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139167.2 -1 reviewed p.E32D 0.999 261 0% 89 42.7% 0 - benign(0.313) tolerated(0.2) neutral(0.147) NULL CNOT7 29883 genome.wustl.edu 37 8 17088265 17088265 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013354.5 -1 reviewed p.G274 1.000 155 0% 47 31.9% 126 46% - - - NULL MTMR7 9108 genome.wustl.edu 37 8 17218703 17218703 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004686.4 -1 reviewed p.D131N 0.369 517 0% 138 49.3% 0 - benign(0.001) tolerated(0.42) neutral(0.014) superfamily_(Phosphotyrosine protein) phosphatases II SLC7A2 6542 genome.wustl.edu 37 8 17409358 17409358 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003046.5 +1 validated p.V346 0.981 298 0% 195 48.2% 0 - - - - HMMPfam_AA_permease FGL1 2267 genome.wustl.edu 37 8 17731884 17731884 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004467.3 -1 reviewed p.E131* 0.845 194 0% 152 40.8% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C PCM1 5108 genome.wustl.edu 37 8 17815061 17815061 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006197.3 +1 validated p.N606T 1.000 200 0% 97 10.3% 19 21% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) PatternScan_MOLYBDOPTERIN_EUK PCM1 5108 genome.wustl.edu 37 8 17863813 17863813 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006197.3 +1 validated p.S1623 1.000 138 0% 89 57.3% 56 30.3% - - - NULL NAT2 10 genome.wustl.edu 37 8 18257539 18257539 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000015.2 +1 reviewed p.R9I 1.000 143 0% 69 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF54001 PSD3 23362 genome.wustl.edu 37 8 18725356 18725356 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015310.3 -1 validated p.E488* 1.000 362 0% 100 45% 2 0% - - - NULL PSD3 23362 genome.wustl.edu 37 8 18729800 18729800 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015310.3 -1 validated p.K192Q 0.409 149 0% 76 39.5% 4 0% benign(0.002) deleterious(0.04) neutral(0.349) NULL CSGALNACT1 55790 genome.wustl.edu 37 8 19363042 19363042 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130518.1 -1 validated p.D102N 0.669 78 0% 35 37.1% 0 - benign(0) tolerated(0.47) neutral(0.011) HMMPfam_CHGN CSGALNACT1 55790 genome.wustl.edu 37 8 19363277 19363277 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130518.1 -1 validated p.C23* 1.000 153 0% 52 44.2% 0 - - - - NULL LPL 4023 genome.wustl.edu 37 8 19809286 19809286 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000311322 +1 known p.G86* 1.000 427 0% 152 45.4% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases SLC18A1 6570 genome.wustl.edu 37 8 20030612 20030612 + Missense_Mutation SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135691.2 -1 validated p.T220S 0.999 161 0% 36 61.1% 0 - probably_damaging(0.987) tolerated(0.35) neutral(0.457) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ATP6V1B2 526 genome.wustl.edu 37 8 20069655 20069655 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001693.3 +1 reviewed p.E250* 1.000 209 0% 72 45.8% 19 15.7% - - - HMMPfam_ATP-synt_ab,superfamily_P-loop containing nucleoside triphosphate hydrolases GFRA2 2675 genome.wustl.edu 37 8 21551978 21551978 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001495.4 -1 reviewed p.E424* 1.000 95 1.1% 80 46.3% 0 - - - - NULL XPO7 23039 genome.wustl.edu 37 8 21856723 21856723 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100161.1 +1 validated p.F859 0.998 348 0% 108 43.5% 52 42.3% - - - superfamily_ARM repeat EPB49 2039 genome.wustl.edu 37 8 21927802 21927802 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114135.2 +1 validated p.I187 0.216 79 0% 70 44.3% 120 55% - - - NULL PPP3CC 5533 genome.wustl.edu 37 8 22368662 22368662 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005605.3 +1 provisional p.L183R 1.000 384 0% 236 44.9% 19 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 LOXL2 4017 genome.wustl.edu 37 8 23185969 23185969 + Missense_Mutation SNP G G A rs4602894 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002318.2 -1 reviewed p.S359L 0.998 66 0% 22 63.6% 45 44.4% possibly_damaging(0.686) deleterious(0.02) deleterious(0.628) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SR,superfamily_Srcr_receptor ENTPD4 9583 genome.wustl.edu 37 8 23301973 23301973 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004901.3 -1 validated p.E187K 0.998 169 0.6% 54 46.3% 33 45.4% benign(0.208) tolerated(0.26) neutral(0.054) HMMPfam_GDA1_CD39 NKX3-1 4824 genome.wustl.edu 37 8 23539056 23539056 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006167.3 -1 validated p.R128Q 0.966 122 0% 105 50.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ADAM28 10863 genome.wustl.edu 37 8 24167708 24167708 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014265.4 +1 reviewed p.Y87S 0.995 155 0% 36 33.3% 1 100% possibly_damaging(0.649) deleterious(0.02) deleterious(0.611) HMMPfam_Pep_M12B_propep ADAM28 10863 genome.wustl.edu 37 8 24168879 24168879 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014265.4 +1 reviewed p.D104E 1.000 236 0% 60 40% 4 50% benign(0.071) deleterious(0) neutral(0.450) HMMPfam_Pep_M12B_propep ADAMDEC1 27299 genome.wustl.edu 37 8 24254940 24254940 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014479.3 +1 validated p.R200* 0.419 99 0% 45 48.9% 1 0% - - - NULL ADAM7 8756 genome.wustl.edu 37 8 24350671 24350671 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000380789 +1 known p.T591A 0.997 88 0% 47 46.8% 0 - benign(0.023) tolerated(0.26) neutral(0.035) HMMPfam_ADAM_CR,HMMSmart_SM00608 NEFL 4747 genome.wustl.edu 37 8 24811753 24811753 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000221169 -1 known p.E371* 1.000 506 0% 377 39.8% 0 - - - - HMMPfam_Filament DOCK5 80005 genome.wustl.edu 37 8 25198396 25198396 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024940.6 +1 validated p.F777L 1.000 480 0% 257 45.1% 0 - benign(0.001) tolerated(1) - NULL GNRH1 2796 genome.wustl.edu 37 8 25279142 25279142 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000825.3 -1 reviewed p.E62K 0.963 175 0.6% 38 31.6% 2 50% possibly_damaging(0.794) tolerated(0.14) deleterious(0.547) NULL KCTD9 54793 genome.wustl.edu 37 8 25290916 25290916 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017634.2 -1 validated p.S283 1.000 58 0% 42 11.9% 16 6.2% - - - HMMPfam_Pentapeptide KCTD9 54793 genome.wustl.edu 37 8 25293979 25293979 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017634.2 -1 validated p.F174L 1.000 115 0% 111 48.6% 14 28.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold CDCA2 157313 genome.wustl.edu 37 8 25318047 25318047 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152562.2 +1 validated p.E70G 1.000 157 0% 177 12.4% 12 0% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL EBF2 64641 genome.wustl.edu 37 8 25745360 25745360 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022659.2 -1 validated p.E294* 1.000 148 0% 40 50% 0 - - - - HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set EBF2 64641 genome.wustl.edu 37 8 25766068 25766068 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022659.2 -1 validated p.F185L 1.000 138 0% 89 46.1% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL PPP2R2A 5520 genome.wustl.edu 37 8 26218536 26218536 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002717.3 +1 reviewed p.R169Q 1.000 128 0% 105 49.5% 24 37.5% unknown(0) - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_PP2A_B_subs_rcg ADRA1A 148 genome.wustl.edu 37 8 26614137 26614137 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000380581 -1 known p.S348Y 0.001 79 0% 32 50% 0 - unknown(0) deleterious(0.01) - NULL EPHX2 2053 genome.wustl.edu 37 8 27362572 27362572 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001979.4 +1 reviewed p.F149S 0.997 298 0% 66 36.4% 1 0% benign(0.221) tolerated(0.31) neutral(0.049) HMMPfam_Hydrolase,superfamily_SSF56784 EPHX2 2053 genome.wustl.edu 37 8 27373267 27373267 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001979.4 +1 reviewed p.G256 0.513 198 0% 62 46.8% 0 - - - - superfamily_SSF53474 SCARA3 51435 genome.wustl.edu 37 8 27514336 27514336 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016240.2 +1 reviewed p.S88 0.997 327 0% 166 43.4% 2 0% - - - NULL SCARA3 51435 genome.wustl.edu 37 8 27516184 27516184 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016240.2 +1 reviewed p.Q166P 0.253 118 0% 54 50% 0 - possibly_damaging(0.475) tolerated(0.08) neutral(0.457) NULL SCARA3 51435 genome.wustl.edu 37 8 27516700 27516700 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016240.2 +1 reviewed p.R338H 1.000 91 0% 21 47.6% 2 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL C8orf80 389643 genome.wustl.edu 37 8 27880890 27880890 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010906.1 -1 provisional p.E779* 0.064 273 0% 33 48.5% 0 - - - - NULL C8orf80 389643 genome.wustl.edu 37 8 27913520 27913520 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010906.1 -1 provisional p.K390Q 0.903 251 0% 266 42.5% 0 - probably_damaging(0.981) tolerated(0.06) deleterious(0.748) NULL PNOC 5368 genome.wustl.edu 37 8 28186724 28186724 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006228.3 +1 validated p.V17A 0.999 364 0% 52 40.4% 0 - unknown(0) tolerated(1) - HMMPfam_Opiods_neuropep FBXO16 157574 genome.wustl.edu 37 8 28304736 28304736 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172366.2 -1 reviewed p.K265N 1.000 293 0% 426 43.9% 8 62.5% probably_damaging(0.98) tolerated(0.06) deleterious(0.746) NULL HMBOX1 79618 genome.wustl.edu 37 8 28906493 28906493 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135726.1 +1 validated p.H351 1.000 170 0% 30 60% 5 60% - - - superfamily_Homeodomain-like UBXN8 7993 genome.wustl.edu 37 8 30612249 30612249 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000265616 +1 known p.R117H 0.998 59 0% 149 47% 9 22.2% - - - NULL TEX15 56154 genome.wustl.edu 37 8 30694396 30694396 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031271.3 -1 validated p.S2752Y 0.000 178 0% 86 50% 0 - probably_damaging(0.981) deleterious(0.04) deleterious(0.774) NULL TEX15 56154 genome.wustl.edu 37 8 30705908 30705908 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031271.3 -1 validated p.I209N 0.000 44 0% 76 40.8% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL WRN 7486 genome.wustl.edu 37 8 30945421 30945421 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000553.4 +1 reviewed p.E521* 0.428 92 0% 39 53.8% 5 40% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases WRN 7486 genome.wustl.edu 37 8 30989948 30989948 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000553.4 +1 reviewed p.K965E 0.726 161 0% 117 39.3% 14 7.1% benign(0.006) deleterious(0.04) neutral(0.349) HMMPfam_RQC,superfamily_P-loop containing nucleoside triphosphate hydrolases FUT10 84750 genome.wustl.edu 37 8 33230119 33230119 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032664.3 -1 validated p.F472L 0.999 129 0% 56 51.8% 6 16.6% benign(0.336) deleterious(0.01) deleterious(0.512) NULL UNC5D 137970 genome.wustl.edu 37 8 35631834 35631834 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080872.2 +1 validated p.I832 1.000 178 0% 76 11.8% 0 - - - - NULL UNC5D 137970 genome.wustl.edu 37 8 35647892 35647892 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080872.2 +1 validated p.F891 1.000 137 0% 37 62.2% 0 - - - - HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain KCNU1 157855 genome.wustl.edu 37 8 36644890 36644890 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031836.2 +1 validated p.R88C 0.270 178 0% 38 47.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF81324 KCNU1 157855 genome.wustl.edu 37 8 36691169 36691169 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031836.2 +1 validated p.R402* 0.063 375 0% 85 17.6% 0 - - - - superfamily_NAD(P)-bd KCNU1 157855 genome.wustl.edu 37 8 36776375 36776375 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031836.2 +1 validated p.E852D 0.000 182 0% 117 44.4% 0 - benign(0.137) tolerated(0.37) neutral(0.030) NULL KCNU1 157855 genome.wustl.edu 37 8 36780134 36780134 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031836.2 +1 validated p.S908Y 1.000 274 0% 122 37.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PROSC 11212 genome.wustl.edu 37 8 37635577 37635577 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007198.3 +1 validated p.C261 0.000 115 0% 82 47.6% 50 48% - - - NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37730550 37730550 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002814.2 -1 validated p.E590D 0.320 78 0% 52 53.8% 4 50% probably_damaging(0.974) tolerated(0.35) neutral(0.436) NULL GOT1L1 137362 genome.wustl.edu 37 8 37791821 37791821 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152413.2 -1 validated p.I419T 0.984 145 0% 207 44.4% 0 - possibly_damaging(0.602) - - NULL DDHD2 23259 genome.wustl.edu 37 8 38099779 38099779 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015214.2 +1 validated p.R242C 1.000 131 0% 125 38.4% 35 45.7% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL WHSC1L1 54904 genome.wustl.edu 37 8 38187256 38187256 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023034.1 -1 reviewed p.K407N 1.000 120 0% 90 47.8% 39 53.8% possibly_damaging(0.455) deleterious(0.05) deleterious(0.494) superfamily_Tudor/PWWP/MBT WHSC1L1 54904 genome.wustl.edu 37 8 38194927 38194927 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023034.1 -1 reviewed p.Q269R 1.000 92 0% 135 37% 40 40% benign(0.282) tolerated(0.22) neutral(0.129) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT LETM2 137994 genome.wustl.edu 37 8 38250180 38250180 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144652.1 +1 provisional p.Y9* 0.000 26 0% 50 46% 2 0% - - - NULL ADAM9 8754 genome.wustl.edu 37 8 38880697 38880697 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003816.2 +1 reviewed p.R256Q 1.000 348 0.3% 143 46.9% 35 45.7% possibly_damaging(0.551) deleterious(0.04) deleterious(0.536) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM32 203102 genome.wustl.edu 37 8 39114857 39114857 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145004.5 +1 validated p.S719 0.360 295 0% 39 38.5% 0 - - - - NULL ADAM18 8749 genome.wustl.edu 37 8 39463871 39463871 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014237.1 +1 reviewed p.L60I 1.000 260 0% 80 45% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pep_M12B_propep ADAM18 8749 genome.wustl.edu 37 8 39505931 39505931 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014237.1 +1 reviewed p.F372C 0.000 109 0% 39 23.1% 0 - possibly_damaging(0.44) tolerated(0.18) neutral(0.199) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM2 2515 genome.wustl.edu 37 8 39604080 39604080 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001464.3 -1 reviewed p.F695L 0.917 139 0% 140 32.1% 0 - probably_damaging(0.99) tolerated(0.18) deleterious(0.497) NULL ADAM2 2515 genome.wustl.edu 37 8 39624472 39624472 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001464.3 -1 reviewed p.N468H 0.000 192 0% 91 46.2% 0 - possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) ADAM2 2515 genome.wustl.edu 37 8 39645709 39645709 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001464.3 -1 reviewed p.N235T 1.000 159 0% 57 43.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" IDO2 169355 genome.wustl.edu 37 8 39840263 39840263 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194294.2 +1 validated p.T149 0.633 154 0% 104 40.4% 0 - - - - HMMPfam_IDO IDO2 169355 genome.wustl.edu 37 8 39862892 39862892 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194294.2 +1 validated p.L251 1.000 381 0% 270 48.1% 0 - - - - HMMPfam_IDO IDO2 169355 genome.wustl.edu 37 8 39873026 39873026 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194294.2 +1 validated p.L390V 0.455 245 0% 54 63% 1 0% probably_damaging(0.966) tolerated(0.11) deleterious(0.679) HMMPfam_IDO ZMAT4 79698 genome.wustl.edu 37 8 40683152 40683152 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024645.2 -1 validated p.Y15C 1.000 234 0% 24 33.3% 1 0% unknown(0) deleterious(0) - HMMSmart_SM00451,HMMPfam_zf-U1,HMMSmart_SM00355 SFRP1 6422 genome.wustl.edu 37 8 41166142 41166142 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003012.4 -1 reviewed p.K179N 1.000 28 0% 34 44.1% 15 0% benign(0.033) tolerated(0.34) neutral(0.025) NULL NKX6-3 157848 genome.wustl.edu 37 8 41504727 41504727 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152568.2 -1 provisional p.L50I 0.000 11 0% 27 37% 0 - unknown(0) - - NULL KAT6A 7994 genome.wustl.edu 37 8 41800349 41800349 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099412.1 -1 validated p.E800K 1.000 387 0% 153 44.4% 8 62.5% unknown(0) tolerated(0.26) - NULL KAT6A 7994 genome.wustl.edu 37 8 41806865 41806865 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099412.1 -1 validated p.L539F 1.000 75 0% 42 42.9% 4 75% unknown(0) deleterious(0.04) - superfamily_Acyl_CoA_acyltransferase KAT6A 7994 genome.wustl.edu 37 8 41832267 41832267 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099412.1 -1 validated p.E479D 1.000 335 0% 144 48.6% 9 11.1% unknown(0) tolerated(0.06) - NULL IKBKB 3551 genome.wustl.edu 37 8 42162712 42162712 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001556.1 +1 validated p.A132 0.028 170 0% 134 47% 26 46.1% unknown(0) tolerated(0.08) - superfamily_Kinase_like,HMMPfam_Pkinase CHRNA6 8973 genome.wustl.edu 37 8 42608330 42608330 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004198.2 -1 provisional p.K493Q 0.111 120 0% 138 55.1% 0 - benign(0.147) tolerated(0.34) neutral(0.036) NULL HOOK3 84376 genome.wustl.edu 37 8 42868475 42868475 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032410.3 +1 validated p.E650* 1.000 58 0% 162 24.1% 13 7.6% - - - HMMPfam_HOOK POTEA 340441 genome.wustl.edu 37 8 43173656 43173656 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005365.2 +1 validated p.T360A 0.000 831 0% 360 37.2% 0 - - - - NULL ENSG00000215179 0 genome.wustl.edu 37 8 47884821 47884821 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000399732 -1 known p.W455L 1.000 22 0% 43 16.3% 0 - - - - NULL ENSG00000215179 0 genome.wustl.edu 37 8 47884834 47884834 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000399732 -1 known p.D451Y 1.000 22 0% 48 33.3% 0 - - - - NULL LOC100287980 100287980 genome.wustl.edu 37 8 48033839 48033839 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342844.1 -1 model p.E88A 0.006 265 0% 110 50% 0 - - - - NULL ENSG00000215177 0 genome.wustl.edu 37 8 48114310 48114310 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000399730 -1 known p.V37I 0.061 143 0% 80 36.2% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 PRKDC 5591 genome.wustl.edu 37 8 48691358 48691358 + Missense_Mutation SNP C C T rs67260773 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000314191 -1 known p.G3860D 0.021 47 0% 85 52.9% 23 39.1% benign(0.01) tolerated(0.32) neutral(0.025) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) PRKDC 5591 genome.wustl.edu 37 8 48697820 48697820 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000314191 -1 known p.M3653R 1.000 108 0% 219 49.8% 18 50% benign(0.093) tolerated(0.26) neutral(0.041) superfamily_Protein kinase-like (PK-like) PRKDC 5591 genome.wustl.edu 37 8 48697866 48697866 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000314191 -1 known p.E3638* 1.000 71 0% 173 50.9% 14 21.4% - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48749969 48749969 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000314191 -1 known p.R2521Q 1.000 71 0% 105 51.4% 5 60% possibly_damaging(0.943) tolerated(0.47) neutral(0.399) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48815227 48815227 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000314191 -1 known p.K1057N 0.987 452 0% 305 44.9% 3 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48842416 48842416 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000314191 -1 known p.F683L 1.000 30 0% 98 36.7% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_ARM repeat EFCAB1 79645 genome.wustl.edu 37 8 49637313 49637313 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024593.3 -1 validated p.F208L 0.962 71 0% 141 41.8% 2 0% benign(0) deleterious(0) neutral(0.445) NULL PXDNL 137902 genome.wustl.edu 37 8 52287167 52287167 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144651.4 -1 validated p.D1228Y 1.000 88 0% 50 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases ST18 9705 genome.wustl.edu 37 8 53049213 53049213 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014682.2 -1 validated p.S746Y 1.000 59 0% 36 41.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2HC,superfamily_SSF103637 ST18 9705 genome.wustl.edu 37 8 53055521 53055521 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014682.2 -1 validated p.H713N 1.000 255 0% 189 40.2% 0 - probably_damaging(0.985) tolerated(0.22) deleterious(0.474) HMMPfam_MYT1 ST18 9705 genome.wustl.edu 37 8 53071642 53071642 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014682.2 -1 validated p.F541C 1.000 236 0% 124 50% 0 - possibly_damaging(0.812) tolerated(0.14) deleterious(0.555) HMMPfam_MYT1 ST18 9705 genome.wustl.edu 37 8 53085111 53085111 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014682.2 -1 validated p.L104I 0.053 21 0% 45 48.9% 0 - possibly_damaging(0.455) tolerated(0.27) neutral(0.182) NULL RGS20 8601 genome.wustl.edu 37 8 54866760 54866760 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170587.2 +1 validated p.L290F 1.000 107 0% 78 50% 0 - possibly_damaging(0.872) tolerated(0.06) deleterious(0.661) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS TCEA1 6917 genome.wustl.edu 37 8 54900682 54900682 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006756.2 -1 validated p.R153Q 1.000 159 0% 70 42.9% 107 47.6% benign(0.004) tolerated(0.54) neutral(0.007) HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510 RP1 6101 genome.wustl.edu 37 8 55534724 55534724 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006269.1 +1 reviewed p.A221 0.994 94 0% 115 47% 0 - - - - HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837 RP1 6101 genome.wustl.edu 37 8 55538573 55538573 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006269.1 +1 reviewed p.E711* 0.000 25 0% 30 40% 0 - - - - NULL RP1 6101 genome.wustl.edu 37 8 55542260 55542260 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006269.1 +1 reviewed p.E1940* 1.000 70 0% 65 44.6% 0 - - - - NULL RP1 6101 genome.wustl.edu 37 8 55542508 55542508 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006269.1 +1 reviewed p.K2022N 0.001 82 0% 65 43.1% 0 - benign(0.008) tolerated(0.32) neutral(0.024) NULL XKR4 114786 genome.wustl.edu 37 8 56270266 56270266 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052898.1 +1 provisional p.R279* 1.000 355 0% 112 48.2% 0 - - - - HMMPfam_XK-related XKR4 114786 genome.wustl.edu 37 8 56436549 56436549 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052898.1 +1 provisional p.V572 1.000 142 0% 73 47.9% 0 - - - - NULL TGS1 96764 genome.wustl.edu 37 8 56698314 56698314 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024831.6 +1 validated p.S68F 0.004 136 0% 74 41.9% 13 84.6% possibly_damaging(0.685) deleterious(0.02) deleterious(0.627) NULL SDR16C6P 442388 genome.wustl.edu 37 8 57307894 57307894 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000444271 -1 known p.L11V 0.055 115 0% 67 41.8% 0 - - - - NULL CYP7A1 1581 genome.wustl.edu 37 8 59409553 59409553 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000780.3 -1 reviewed p.S173Y 0.976 172 0% 99 42.4% 0 - possibly_damaging(0.895) deleterious(0.02) deleterious(0.736) HMMPfam_p450,superfamily_Cytochrome_P450 TOX 9760 genome.wustl.edu 37 8 59851988 59851988 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014729.2 -1 reviewed p.S95Y 1.000 173 0.6% 57 31.6% 5 40% benign(0.003) deleterious(0.02) neutral(0.383) NULL CHD7 55636 genome.wustl.edu 37 8 61728992 61728992 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017780.2 +1 reviewed p.D849Y 1.000 117 0% 97 38.1% 2 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like MTFR1 9650 genome.wustl.edu 37 8 66617040 66617040 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014637.3 +1 reviewed p.K131 0.311 60 0% 27 37% 28 53.5% - - - HMMPfam_DUF729 TRIM55 84675 genome.wustl.edu 37 8 67064611 67064611 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_184085.1 +1 reviewed e8-1 0.999 64 0% 23 30.4% 0 - - - - - VCPIP1 80124 genome.wustl.edu 37 8 67546968 67546968 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025054.4 -1 validated p.S1146Y 1.000 100 0% 69 46.4% 5 60% possibly_damaging(0.449) deleterious(0) deleterious(0.592) NULL C8orf45 157777 genome.wustl.edu 37 8 67809099 67809099 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173518.4 +1 validated p.L511I 0.985 80 0% 94 16% 0 - benign(0.043) tolerated(0.16) neutral(0.062) HMMSmart_SM00350 PPP1R42 286187 genome.wustl.edu 37 8 67925225 67925225 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013626.2 -1 provisional p.L135M 1.000 102 0% 153 36.6% 0 - benign(0.19) tolerated(0.16) neutral(0.077) superfamily_SSF52058 CSPP1 79848 genome.wustl.edu 37 8 68030536 68030536 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077204.1 +1 validated p.R547Q 1.000 412 0.2% 133 36.1% 5 20% probably_damaging(0.957) tolerated(0.39) neutral(0.417) NULL CSPP1 79848 genome.wustl.edu 37 8 68070693 68070693 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077204.1 +1 validated p.K781N 1.000 60 1.7% 70 50% 8 25% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68111314 68111314 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006421.3 -1 reviewed p.F1802C 1.000 248 0% 135 45.9% 15 33.3% benign(0) tolerated(0.19) neutral(0.050) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68137248 68137248 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006421.3 -1 reviewed p.S1366 0.998 217 0% 57 45.6% 3 33.3% - - - superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68138302 68138302 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006421.3 -1 reviewed p.R1345* 1.000 78 0% 23 21.7% 5 0% - - - superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68140363 68140363 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006421.3 -1 reviewed p.D1142 1.000 167 0% 75 46.7% 7 28.5% - - - superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68178266 68178266 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006421.3 -1 reviewed p.E700* 1.000 299 0% 138 46.4% 1 100% - - - HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68179665 68179665 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006421.3 -1 reviewed p.E529* 1.000 55 0% 45 31.1% 3 66.6% - - - superfamily_ARM-type_fold CPA6 57094 genome.wustl.edu 37 8 68334861 68334861 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020361.4 -1 validated p.E398K 1.000 280 0% 122 46.7% 0 - unknown(0) deleterious(0) - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPA6 57094 genome.wustl.edu 37 8 68396988 68396988 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020361.4 -1 validated p.K225E 1.000 159 0% 113 40.7% 0 - benign(0.348) tolerated(0.37) neutral(0.129) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases PREX2 80243 genome.wustl.edu 37 8 68950493 68950493 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024870.2 +1 validated p.D269N 1.000 378 0% 42 45.2% 7 28.5% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PREX2 80243 genome.wustl.edu 37 8 68972981 68972981 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024870.2 +1 validated p.Q436* 1.000 140 0% 57 56.1% 1 0% - - - "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" PREX2 80243 genome.wustl.edu 37 8 69030872 69030872 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024870.2 +1 validated p.M1138I 1.000 137 0% 48 43.8% 5 80% benign(0.112) deleterious(0) neutral(0.454) NULL SULF1 23213 genome.wustl.edu 37 8 70539450 70539450 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128204.1 +1 validated p.F619C 1.000 341 0% 535 47.3% 33 0% probably_damaging(0.968) tolerated(0.12) deleterious(0.670) superfamily_Alkaline_phosphatase_core SLCO5A1 81796 genome.wustl.edu 37 8 70667829 70667829 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030958.2 -1 reviewed p.F363C 1.000 118 0% 95 46.3% 0 - benign(0.084) deleterious(0.01) neutral(0.412) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter PRDM14 63978 genome.wustl.edu 37 8 70970919 70970919 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024504.2 -1 validated p.R448W 0.440 184 0% 100 44% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NCOA2 10499 genome.wustl.edu 37 8 71037031 71037031 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006540.2 -1 validated p.R1329Q 1.000 154 0% 79 50.6% 11 72.7% probably_damaging(1) tolerated(0.5) deleterious(0.510) HMMPfam_DUF1518 NCOA2 10499 genome.wustl.edu 37 8 71039182 71039182 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006540.2 -1 validated p.R1261Q 0.981 316 0% 127 48.8% 5 0% probably_damaging(0.965) tolerated(0.38) neutral(0.424) NULL NCOA2 10499 genome.wustl.edu 37 8 71078986 71078986 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006540.2 -1 validated p.N182T 1.000 118 0% 52 48.1% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF55785 EYA1 2138 genome.wustl.edu 37 8 72123486 72123486 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000503.4 -1 reviewed p.E535* 1.000 490 0% 152 40.1% 0 - - - - HMMPfam_Hydrolase EYA1 2138 genome.wustl.edu 37 8 72211314 72211314 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000503.4 -1 reviewed p.I265T 1.000 720 0% 101 48.5% 0 - benign(0.002) tolerated(0.5) neutral(0.010) NULL TRPA1 8989 genome.wustl.edu 37 8 72950298 72950298 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007332.2 -1 reviewed p.L769I 0.031 49 0% 23 43.5% 0 - benign(0.103) tolerated(0.44) neutral(0.021) NULL TRPA1 8989 genome.wustl.edu 37 8 72959433 72959433 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007332.2 -1 reviewed p.D639Y 1.000 98 0% 31 54.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat TRPA1 8989 genome.wustl.edu 37 8 72970026 72970026 + Missense_Mutation SNP G G A rs193112574 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007332.2 -1 reviewed p.S340F 0.002 201 0% 60 53.3% 0 - benign(0.209) tolerated(0.51) neutral(0.029) HMMPfam_Ank,superfamily_Ankyrin repeat LOC392232 392232 genome.wustl.edu 37 8 73122106 73122106 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_037363.2 -1 model NULL 0.998 47 0% 15 60% 0 - - - - - KCNB2 9312 genome.wustl.edu 37 8 73849972 73849972 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004770.2 +1 reviewed p.F794L 0.654 79 0% 31 35.5% 0 - benign(0.021) tolerated(0.12) neutral(0.262) NULL RDH10 157506 genome.wustl.edu 37 8 74234918 74234918 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172037.3 +1 validated p.E259* 1.000 36 0% 33 48.5% 7 14.2% - - - superfamily_NAD(P)-binding Rossmann-fold domains JPH1 56704 genome.wustl.edu 37 8 75227557 75227557 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020647.2 -1 reviewed p.S226 0.851 14 0% 29 34.5% 0 - - - - NULL HNF4G 3174 genome.wustl.edu 37 8 76463718 76463718 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004133.4 +1 validated p.R150W 0.995 103 0% 17 58.8% 0 - possibly_damaging(0.52) tolerated(0.13) neutral(0.427) superfamily_Str_ncl_receptor ZFHX4 79776 genome.wustl.edu 37 8 77764165 77764165 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024721.4 +1 validated p.L1625V 0.982 310 0% 65 50.8% 0 - benign(0.076) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77764571 77764571 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024721.4 +1 validated p.A1760D 1.000 233 0% 81 48.1% 0 - possibly_damaging(0.485) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77765105 77765105 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024721.4 +1 validated p.R1938H 1.000 90 0% 53 41.5% 0 - possibly_damaging(0.646) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77766935 77766935 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024721.4 +1 validated p.K2548T 1.000 63 0% 39 48.7% 0 - possibly_damaging(0.873) - - superfamily_Homeodomain-like ZFHX4 79776 genome.wustl.edu 37 8 77767473 77767473 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024721.4 +1 validated p.S2727 1.000 79 0% 62 11.3% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77767647 77767647 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024721.4 +1 validated p.S2785 0.000 93 1.1% 61 42.6% 0 - - - - NULL PEX2 5828 genome.wustl.edu 37 8 77896042 77896042 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000318.2 -1 reviewed p.R125* 1.000 182 0% 99 46.5% 43 39.5% - - - HMMPfam_Pex2_Pex12 ZC2HC1A 51101 genome.wustl.edu 37 8 79598768 79598768 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016010.2 +1 validated p.A93T 1.000 89 0% 48 43.8% 13 46.1% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL PAG1 55824 genome.wustl.edu 37 8 81897258 81897258 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018440.3 -1 reviewed p.S210L 0.000 241 0% 145 42.8% 3 0% benign(0) tolerated(1) - NULL FABP5 2171 genome.wustl.edu 37 8 82196802 82196802 + Nonstop_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001444.1 +1 reviewed p.*136Y 0.993 235 0% 212 50.5% 116 18.1% - - - NULL FABP9 646480 genome.wustl.edu 37 8 82371476 82371476 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080526.1 -1 provisional p.S57Y 0.032 202 0% 79 45.6% 0 - benign(0.133) deleterious(0) neutral(0.456) HMMPfam_Lipocalin,superfamily_Calycin LRRCC1 85444 genome.wustl.edu 37 8 86027725 86027725 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033402.4 +1 validated p.S279F 0.998 105 0% 32 37.5% 6 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LRRCC1 85444 genome.wustl.edu 37 8 86041455 86041455 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033402.4 +1 validated p.L489 0.011 34 0% 72 44.4% 16 43.7% - - - NULL WWP1 11059 genome.wustl.edu 37 8 87437508 87437508 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007013.3 +1 validated p.R373Q 1.000 103 1% 105 41% 19 47.3% possibly_damaging(0.883) deleterious(0.03) deleterious(0.710) HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain WWP1 11059 genome.wustl.edu 37 8 87443710 87443710 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007013.3 +1 validated p.R488I 1.000 137 0% 99 53.5% 19 52.6% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00456,superfamily_WW domain CNGB3 54714 genome.wustl.edu 37 8 87588350 87588350 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019098.4 -1 reviewed p.E704D 0.007 175 0% 182 46.2% 0 - possibly_damaging(0.837) tolerated(0.52) neutral(0.328) NULL CNGB3 54714 genome.wustl.edu 37 8 87738812 87738812 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019098.4 -1 reviewed p.T95 0.000 324 0% 111 40.5% 0 - - - - NULL CNBD1 168975 genome.wustl.edu 37 8 87917400 87917400 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173538.2 +1 provisional p.L84I 0.081 129 0% 77 49.4% 0 - benign(0.01) tolerated(0.85) neutral(0.001) NULL DCAF4L2 138009 genome.wustl.edu 37 8 88886060 88886060 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152418.3 -1 validated p.R47H 0.003 132 0% 69 55.1% 0 - benign(0.002) tolerated(1) - superfamily_WD40_like RIPK2 8767 genome.wustl.edu 37 8 90784008 90784008 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003821.5 +1 reviewed p.Q227H 1.000 146 0% 74 31.1% 29 44.8% benign(0.011) tolerated(0.28) neutral(0.032) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NBN 4683 genome.wustl.edu 37 8 90960060 90960060 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002485.4 -1 reviewed p.E636* 0.992 176 0% 133 36.1% 13 0% - - - NULL NBN 4683 genome.wustl.edu 37 8 90967568 90967568 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002485.4 -1 reviewed p.S447Y 0.977 208 0% 83 47% 13 84.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL OTUD6B 51633 genome.wustl.edu 37 8 92083385 92083385 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016023.3 +1 validated p.K64N 0.974 107 0% 73 37% 9 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RBM12B 389677 genome.wustl.edu 37 8 94747425 94747425 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203390.2 -1 validated p.R405I 1.000 76 0% 112 34.8% 11 45.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RBM12B 389677 genome.wustl.edu 37 8 94748137 94748137 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203390.2 -1 validated p.E168* 1.000 153 0% 185 16.2% 10 0% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD RBM12B 389677 genome.wustl.edu 37 8 94748255 94748255 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203390.2 -1 validated p.Q128H 0.127 114 0% 172 43.6% 15 40% possibly_damaging(0.502) tolerated(0.13) neutral(0.420) superfamily_RNA-binding domain RBD TMEM67 91147 genome.wustl.edu 37 8 94811923 94811923 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153704.5 +1 reviewed p.P726 0.281 312 0% 149 15.4% 10 0% - - - HMMPfam_Meckelin TMEM67 91147 genome.wustl.edu 37 8 94822105 94822105 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153704.5 +1 reviewed p.I918 1.000 27 0% 84 39.3% 8 0% - - - HMMPfam_Meckelin CDH17 1015 genome.wustl.edu 37 8 95189941 95189941 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144663.1 -1 reviewed p.A53 0.052 227 0% 64 43.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like RAD54B 25788 genome.wustl.edu 37 8 95392586 95392586 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012415.2 -1 reviewed p.E678D 0.997 226 0% 187 44.4% 13 38.4% benign(0.001) tolerated(0.62) neutral(0.004) HMMSmart_HELICc,superfamily_SSF52540 DPY19L4 286148 genome.wustl.edu 37 8 95777431 95777431 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181787.2 +1 validated p.I297 1.000 96 1% 208 41.3% 4 25% - - - HMMPfam_DUF2211 DPY19L4 286148 genome.wustl.edu 37 8 95789974 95789974 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181787.2 +1 validated p.F512S 1.000 150 0% 172 45.9% 15 53.3% possibly_damaging(0.655) deleterious(0.02) deleterious(0.614) HMMPfam_DUF2211 INTS8 55656 genome.wustl.edu 37 8 95848825 95848825 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017864.2 +1 provisional p.E276G 1.000 235 0% 128 54.7% 17 52.9% benign(0.235) tolerated(0.28) neutral(0.055) NULL CCNE2 9134 genome.wustl.edu 37 8 95894371 95894371 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_057749.1 -1 reviewed p.L364V 0.606 99 0% 258 46.1% 22 36.3% benign(0.075) deleterious(0.01) neutral(0.411) HMMPfam_Cyclin_C TP53INP1 94241 genome.wustl.edu 37 8 95953101 95953101 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033285.3 -1 validated p.F23L 0.789 190 0.5% 240 45.8% 9 22.2% benign(0.038) tolerated(0.19) neutral(0.052) NULL UQCRB 7381 genome.wustl.edu 37 8 97244037 97244037 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006294.3 -1 reviewed p.I75L 1.000 220 0% 103 40.8% 1101 42.5% possibly_damaging(0.513) tolerated(0.28) neutral(0.204) HMMPfam_UCR_14kD,superfamily_14 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) MTERFD1 51001 genome.wustl.edu 37 8 97256275 97256275 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015942.3 -1 provisional p.E311K 1.000 299 0.3% 228 41.7% 42 40.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_mTERF SDC2 6383 genome.wustl.edu 37 8 97620598 97620598 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002998.3 +1 reviewed p.L114 0.000 249 0% 81 53.1% 19 57.8% - - - HMMPfam_Syndecan CPQ 10404 genome.wustl.edu 37 8 98155282 98155282 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016134.2 +1 provisional p.F430L 1.000 395 0% 74 41.9% 16 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53187 ENSG00000104324 0 genome.wustl.edu 37 8 98155571 98155571 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000325141 +1 known p.F525L 0.378 48 0% 22 40.9% 10 50% - - - NULL TSPYL5 85453 genome.wustl.edu 37 8 98289206 98289206 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033512.2 -1 validated p.R289S 0.157 130 0% 103 10.7% 1 0% probably_damaging(0.992) tolerated(0.19) deleterious(0.497) HMMPfam_NAP TSPYL5 85453 genome.wustl.edu 37 8 98289518 98289518 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033512.2 -1 validated p.K185N 0.001 124 0% 53 41.5% 0 - possibly_damaging(0.839) tolerated(0.06) deleterious(0.643) NULL TSPYL5 85453 genome.wustl.edu 37 8 98289718 98289718 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033512.2 -1 validated p.D119Y 0.864 18 0% 13 46.2% 1 0% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL MTDH 92140 genome.wustl.edu 37 8 98701320 98701320 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178812.3 +1 validated p.S267Y 0.982 25 0% 77 44.2% 32 12.5% possibly_damaging(0.923) tolerated(0.07) deleterious(0.692) NULL C8orf47 203111 genome.wustl.edu 37 8 99102091 99102091 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173549.2 +1 validated p.M282I 0.000 126 0% 72 45.8% 26 46.1% possibly_damaging(0.741) tolerated(0.2) neutral(0.321) NULL C8orf47 203111 genome.wustl.edu 37 8 99105523 99105523 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173549.2 +1 validated p.E363* 1.000 197 0% 109 48.6% 38 47.3% - - - NULL POP1 10940 genome.wustl.edu 37 8 99152405 99152405 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015029.2 +1 reviewed p.E488K 0.678 213 0% 87 46% 5 20% benign(0.309) tolerated(0.12) neutral(0.357) NULL POP1 10940 genome.wustl.edu 37 8 99153079 99153079 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015029.2 +1 reviewed p.K519N 1.000 137 0% 95 46.3% 4 25% benign(0.231) deleterious(0.03) neutral(0.388) NULL POP1 10940 genome.wustl.edu 37 8 99170169 99170169 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015029.2 +1 reviewed p.K915N 0.249 158 0% 30 46.7% 12 58.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KCNS2 3788 genome.wustl.edu 37 8 99440522 99440522 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020697.2 +1 provisional p.I105 0.851 72 0% 46 54.3% 0 - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain VPS13B 157680 genome.wustl.edu 37 8 100844757 100844757 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017890.3 +1 reviewed p.S3189Y 0.021 90 0% 22 54.5% 4 50% possibly_damaging(0.819) tolerated(0.06) deleterious(0.632) NULL RGS22 26166 genome.wustl.edu 37 8 101018270 101018270 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015668.3 -1 validated p.K810R 1.000 262 0% 101 45.5% 2 0% possibly_damaging(0.882) tolerated(0.43) neutral(0.358) NULL RGS22 26166 genome.wustl.edu 37 8 101076165 101076165 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015668.3 -1 validated p.E277 0.010 63 0% 54 53.7% 0 - - - - NULL SPAG1 6674 genome.wustl.edu 37 8 101203620 101203620 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003114.3 +1 reviewed p.L279F 1.000 118 0% 170 47.1% 2 0% benign(0.248) tolerated(0.23) neutral(0.067) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like SPAG1 6674 genome.wustl.edu 37 8 101206467 101206467 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003114.3 +1 reviewed p.R356I 0.000 45 0% 86 36% 0 - benign(0) tolerated(0.17) neutral(0.059) NULL SNX31 169166 genome.wustl.edu 37 8 101629891 101629891 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152628.3 -1 validated p.R130I 0.000 219 0% 257 45.9% 0 - benign(0.12) tolerated(0.18) neutral(0.066) NULL PABPC1 26986 genome.wustl.edu 37 8 101724661 101724661 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002568.3 -1 validated p.L301I 1.000 80 0% 115 49.6% 1465 44.6% probably_damaging(0.97) tolerated(0.11) deleterious(0.684) HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PABPC1 26986 genome.wustl.edu 37 8 101727717 101727717 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002568.3 -1 validated p.R206C 1.000 121 0.8% 147 36.7% 1534 45.8% benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD GRHL2 79977 genome.wustl.edu 37 8 102586030 102586030 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024915.3 +1 reviewed p.R290L 1.000 50 0% 29 34.5% 28 42.8% probably_damaging(0.997) tolerated(0.41) deleterious(0.481) HMMPfam_CP2 RRM2B 50484 genome.wustl.edu 37 8 103220470 103220470 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015713.4 -1 reviewed p.S316Y 1.000 36 0% 26 53.8% 13 15.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FZD6 8323 genome.wustl.edu 37 8 104337100 104337100 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003506.3 +1 reviewed p.D256N 0.987 269 0% 81 43.2% 25 56% benign(0) tolerated(0.5) neutral(0.010) HMMPfam_Frizzled FZD6 8323 genome.wustl.edu 37 8 104337581 104337581 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003506.3 +1 reviewed p.R416Q 1.000 165 0% 59 42.4% 31 48.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Frizzled DCAF13 25879 genome.wustl.edu 37 8 104455090 104455090 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015420.6 +1 validated p.V592I 0.007 92 0% 75 41.3% 72 43% benign(0.002) tolerated(0.38) neutral(0.018) HMMPfam_Sof1 RIMS2 9699 genome.wustl.edu 37 8 104898050 104898050 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100117.1 +1 validated p.R408Q 1.000 106 0% 11 36.4% 0 - possibly_damaging(0.619) deleterious(0.01) deleterious(0.621) NULL RIMS2 9699 genome.wustl.edu 37 8 104940089 104940089 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100117.1 +1 validated p.R739I 1.000 143 0% 62 58.1% 0 - benign(0.046) tolerated(0.27) neutral(0.036) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TM7SF4 81501 genome.wustl.edu 37 8 105361101 105361101 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030788.2 +1 reviewed p.I107 0.995 194 0% 75 41.3% 0 - - - - NULL DPYS 1807 genome.wustl.edu 37 8 105405171 105405171 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001385.2 -1 reviewed p.F428 0.997 145 0% 46 32.6% 0 - - - - superfamily_Metalo_hydrolase ZFPM2 23414 genome.wustl.edu 37 8 106814760 106814760 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012082.3 +1 reviewed p.T817N 0.200 73 0% 28 32.1% 0 - benign(0.026) deleterious(0.03) neutral(0.365) NULL ZFPM2 23414 genome.wustl.edu 37 8 106815730 106815730 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012082.3 +1 reviewed p.F1140L 1.000 50 0% 22 40.9% 0 - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OXR1 55074 genome.wustl.edu 37 8 107719101 107719101 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018002.2 +1 validated p.S451Y 0.001 79 0% 51 43.1% 17 29.4% benign(0.15) tolerated(0.15) neutral(0.254) NULL RSPO2 340419 genome.wustl.edu 37 8 108973007 108973007 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178565.4 -1 validated p.D108Y 1.000 122 0% 55 49.1% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00261,superfamily_Growth factor receptor domain RSPO2 340419 genome.wustl.edu 37 8 109001376 109001376 + Missense_Mutation SNP C C T rs182334537 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178565.4 -1 validated p.R64Q 1.000 173 0% 37 43.2% 0 - probably_damaging(0.987) tolerated(0.15) deleterious(0.677) HMMSmart_SM00261,superfamily_Growth factor receptor domain PKHD1L1 93035 genome.wustl.edu 37 8 110412475 110412475 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_177531.4 +1 validated p.F395V 1.000 266 0% 99 44.4% 3 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00758,superfamily_Anthrax protective antigen PKHD1L1 93035 genome.wustl.edu 37 8 110441617 110441617 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_177531.4 +1 validated p.R1017 0.028 189 0% 105 39% 2 100% - - - NULL PKHD1L1 93035 genome.wustl.edu 37 8 110489519 110489519 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_177531.4 +1 validated p.D2995Y 1.000 283 0% 56 41.1% 3 66.6% benign(0.235) deleterious(0.03) neutral(0.388) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110527459 110527459 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_177531.4 +1 validated p.L3872V 0.366 190 0% 62 40.3% 16 31.2% benign(0) tolerated(0.56) neutral(0.006) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110530557 110530557 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_177531.4 +1 validated p.D3951Y 1.000 171 0% 32 50% 12 41.6% possibly_damaging(0.768) deleterious(0.01) deleterious(0.691) NULL SYBU 55638 genome.wustl.edu 37 8 110588071 110588071 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099744.1 -1 validated p.D352E 0.962 97 0% 46 43.5% 29 48.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KCNV1 27012 genome.wustl.edu 37 8 110980568 110980568 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014379.2 -1 reviewed p.L418F 1.000 110 0% 71 39.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CSMD3 114788 genome.wustl.edu 37 8 113293510 113293510 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.S3134Y 1.000 123 0% 35 37.1% 0 - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113308098 113308098 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.D2860N 1.000 117 0% 61 45.9% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113318389 113318389 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.N2640H 1.000 203 0% 64 35.9% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113326766 113326766 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.L2481I 1.000 234 0% 44 38.6% 0 - probably_damaging(0.987) tolerated(0.39) neutral(0.453) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113331173 113331173 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.I2418N 1.000 109 0% 23 39.1% 0 - probably_damaging(0.989) tolerated(0.07) deleterious(0.758) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113349922 113349922 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.R2231* 1.000 88 0% 22 36.4% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113516021 113516021 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.K1694R 1.000 307 0% 116 50% 0 - probably_damaging(0.971) tolerated(0.44) neutral(0.425) HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113519057 113519057 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.A1586 0.999 135 0% 46 47.8% 0 - - - - superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113585880 113585880 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.D1298Y 1.000 73 0% 28 35.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113657379 113657379 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.S1090Y 1.000 113 0% 70 38.6% 0 - possibly_damaging(0.928) tolerated(0.42) neutral(0.390) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113702220 113702220 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.D678N 0.999 175 0% 51 47.1% 0 - unknown(0) tolerated(0.45) - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113966976 113966976 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.D453Y 1.000 63 0% 53 32.1% 0 - unknown(0) deleterious(0) - NULL CSMD3 114788 genome.wustl.edu 37 8 114111124 114111124 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198123.1 -1 validated p.E260* 1.000 172 0% 30 40% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TRPS1 7227 genome.wustl.edu 37 8 116599811 116599811 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014112.2 -1 reviewed p.K706T 1.000 106 0% 43 46.5% 9 44.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_ZnF_C2H2 UTP23 84294 genome.wustl.edu 37 8 117784025 117784025 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032334.2 +1 validated p.R232W 0.998 12 0% 41 51.2% 10 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL RAD21 5885 genome.wustl.edu 37 8 117861197 117861197 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006265.2 -1 reviewed p.L564 0.997 262 0.4% 74 39.2% 222 50% unknown(0) - - NULL RAD21 5885 genome.wustl.edu 37 8 117874113 117874113 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006265.2 -1 reviewed p.F114C 1.000 183 0% 30 53.3% 102 50.9% possibly_damaging(0.852) deleterious(0.01) deleterious(0.733) NULL RAD21 5885 genome.wustl.edu 37 8 117875449 117875449 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006265.2 -1 reviewed p.R65Q 1.000 264 0% 62 40.3% 127 50.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rad21_Rec8_N SLC30A8 169026 genome.wustl.edu 37 8 118175682 118175682 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173851.2 +1 reviewed p.D248N 1.000 229 0% 120 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cation_efflux EXT1 2131 genome.wustl.edu 37 8 118834750 118834750 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000127.2 -1 reviewed p.Q457H 1.000 274 0% 94 38.3% 23 39.1% benign(0.02) tolerated(0.29) neutral(0.030) NULL EXT1 2131 genome.wustl.edu 37 8 118842490 118842490 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000127.2 -1 reviewed p.K421N 1.000 176 0% 102 48% 20 40% possibly_damaging(0.932) deleterious(0) deleterious(0.823) NULL TNFRSF11B 4982 genome.wustl.edu 37 8 119936803 119936803 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002546.3 -1 reviewed p.Q339R 0.996 310 0% 149 40.9% 4 0% benign(0.411) tolerated(0.07) neutral(0.452) HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain NOV 4856 genome.wustl.edu 37 8 120430323 120430323 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002514.3 +1 reviewed p.F112 0.799 173 0% 77 48.1% 5 80% - - - HMMPfam_VWC,HMMSmart_VWC NOV 4856 genome.wustl.edu 37 8 120435330 120435330 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002514.3 +1 reviewed p.F344L 1.000 69 0% 19 63.2% 12 50% benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_Cys_knot ENPP2 5168 genome.wustl.edu 37 8 120584463 120584463 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130863.1 -1 reviewed p.R603I 1.000 246 0% 171 48.5% 0 - benign(0) tolerated(0.2) neutral(0.049) NULL ENPP2 5168 genome.wustl.edu 37 8 120608142 120608142 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006209.3 -1 reviewed p.R358I 1.000 157 0% 90 46.7% 1 0% possibly_damaging(0.933) deleterious(0) deleterious(0.824) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like TAF2 6873 genome.wustl.edu 37 8 120801098 120801098 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003184.3 -1 reviewed p.R539G 1.000 284 0% 245 54.7% 10 60% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TAF2 6873 genome.wustl.edu 37 8 120810022 120810022 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003184.3 -1 reviewed p.E286V 1.000 104 0% 78 15.4% 9 11.1% possibly_damaging(0.78) deleterious(0.01) deleterious(0.697) HMMPfam_Peptidase_M1,superfamily_SSF55486 MTBP 27085 genome.wustl.edu 37 8 121467809 121467809 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022045.3 +1 provisional p.H207N 0.755 166 0% 84 44% 1 0% benign(0) tolerated(0.53) neutral(0.007) NULL MTBP 27085 genome.wustl.edu 37 8 121473460 121473460 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022045.3 +1 provisional p.L314 0.856 278 0% 169 42% 5 60% - - - NULL ATAD2 29028 genome.wustl.edu 37 8 124359527 124359527 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014109.3 -1 reviewed p.N673H 0.974 154 0% 122 48.4% 8 75% benign(0.003) tolerated(0.13) neutral(0.253) superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2 29028 genome.wustl.edu 37 8 124383523 124383523 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014109.3 -1 reviewed p.R198* 0.995 156 0% 154 39% 9 33.3% - - - NULL FBXO32 114907 genome.wustl.edu 37 8 124547051 124547051 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_058229.2 -1 reviewed p.Y40* 1.000 174 0% 293 45.4% 0 - - - - NULL KLHL38 340359 genome.wustl.edu 37 8 124664311 124664311 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081675.2 -1 validated p.L286I 1.000 299 0% 46 45.7% 0 - probably_damaging(0.961) tolerated(0.61) neutral(0.408) HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL38 340359 genome.wustl.edu 37 8 124664387 124664387 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081675.2 -1 validated p.F260L 0.993 206 0% 37 35.1% 0 - benign(0.124) tolerated(0.2) neutral(0.059) superfamily_Galactose oxidase central domain FAM91A1 157769 genome.wustl.edu 37 8 124790929 124790929 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144963.2 +1 validated p.L156I 1.000 91 0% 49 44.9% 19 36.8% possibly_damaging(0.778) tolerated(0.11) deleterious(0.562) NULL FER1L6 654463 genome.wustl.edu 37 8 125072807 125072807 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039112.2 +1 validated p.R1002W 0.991 322 0% 162 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) GSDMC 56169 genome.wustl.edu 37 8 130777902 130777902 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031415.2 -1 validated p.K181I 0.000 241 0% 72 37.5% 0 - possibly_damaging(0.918) deleterious(0.04) deleterious(0.718) HMMPfam_Gasdermin FAM49B 51571 genome.wustl.edu 37 8 130874497 130874497 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016623.3 -1 predicted p.F93L 0.996 104 0% 82 50% 69 52.1% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_DUF1394 ASAP1 50807 genome.wustl.edu 37 8 131073262 131073262 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018482.2 -1 validated p.E919K 0.995 86 0% 76 44.7% 13 30.7% possibly_damaging(0.46) tolerated(0.21) neutral(0.195) NULL ENSG00000200304 0 genome.wustl.edu 37 8 131081888 131081888 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000363434 -1 novel NULL 0.056 14 0% 25 40% 0 - - - - - ADCY8 114 genome.wustl.edu 37 8 131861891 131861891 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001115.2 -1 reviewed p.F790C 1.000 372 0% 67 44.8% 0 - benign(0.005) tolerated(0.14) neutral(0.249) NULL ADCY8 114 genome.wustl.edu 37 8 131916183 131916183 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001115.2 -1 reviewed p.I582 1.000 145 0% 36 58.3% 0 - - - - HMMPfam_Guanylate_cyc,superfamily_A/G_cyclase ADCY8 114 genome.wustl.edu 37 8 131964142 131964142 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001115.2 -1 reviewed p.I405F 1.000 223 0% 57 52.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase EFR3A 23167 genome.wustl.edu 37 8 132957062 132957062 + Missense_Mutation SNP G G A rs143933422 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015137.3 +1 validated p.R53Q 1.000 340 0% 25 32% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat OC90 729330 genome.wustl.edu 37 8 133044289 133044289 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080399.2 -1 validated p.R290S 0.035 295 0.3% 33 39.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KCNQ3 3786 genome.wustl.edu 37 8 133141656 133141656 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004519.2 -1 reviewed p.S824 0.188 77 0% 33 48.5% 0 - - - - NULL PHF20L1 51105 genome.wustl.edu 37 8 133829256 133829256 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016018.4 +1 validated p.P436Q 1.000 77 0% 15 46.7% 7 42.8% possibly_damaging(0.648) deleterious(0) deleterious(0.672) NULL PHF20L1 51105 genome.wustl.edu 37 8 133837526 133837526 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016018.4 +1 validated p.D552Y 1.000 57 0% 23 43.5% 13 69.2% possibly_damaging(0.896) deleterious(0.03) deleterious(0.718) NULL PHF20L1 51105 genome.wustl.edu 37 8 133848922 133848922 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016018.4 +1 validated p.R683* 1.000 332 0% 60 51.7% 19 31.5% - - - superfamily_FYVE/PHD zinc finger,HMMPfam_PHD TG 7038 genome.wustl.edu 37 8 133898757 133898757 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003235.4 +1 reviewed p.S380 0.002 104 0% 37 54.1% 0 - - - - NULL TG 7038 genome.wustl.edu 37 8 133900629 133900629 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003235.4 +1 reviewed p.E859D 0.004 77 0% 39 33.3% 0 - benign(0.019) tolerated(0.35) neutral(0.022) superfamily_Thyroglobulin type-1 domain SLA 6503 genome.wustl.edu 37 8 134050962 134050962 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006748.3 -1 validated p.G253E 0.078 155 0% 82 36.6% 4 0% benign(0.003) tolerated(0.87) neutral(0.001) NULL NDRG1 10397 genome.wustl.edu 37 8 134251254 134251254 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135242.1 -1 reviewed p.R351Q 1.000 21 0% 22 63.6% 227 54.6% probably_damaging(1) tolerated(0.27) deleterious(0.533) NULL ZFAT 57623 genome.wustl.edu 37 8 135613804 135613804 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020863.3 -1 reviewed p.N720H 0.451 104 0% 58 46.6% 2 50% possibly_damaging(0.509) deleterious(0.01) deleterious(0.576) NULL ZFAT 57623 genome.wustl.edu 37 8 135622870 135622870 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020863.3 -1 reviewed p.K159N 1.000 465 0% 249 39.4% 3 33.3% possibly_damaging(0.566) deleterious(0) deleterious(0.638) NULL KHDRBS3 10656 genome.wustl.edu 37 8 136533485 136533485 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006558.1 +1 provisional p.E32K 1.000 205 0% 85 40% 44 29.5% benign(0.038) deleterious(0) neutral(0.447) NULL FAM135B 51059 genome.wustl.edu 37 8 139144875 139144875 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015912.3 -1 validated p.E1394D 1.000 154 0% 75 42.7% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL COL22A1 169044 genome.wustl.edu 37 8 139638480 139638480 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152888.1 -1 validated p.E1224* 1.000 141 0% 46 39.1% 1 0% - - - NULL COL22A1 169044 genome.wustl.edu 37 8 139833645 139833645 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152888.1 -1 validated p.R327W 1.000 251 0% 51 52.9% 0 - unknown(0) deleterious(0.03) - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases EIF2C2 27161 genome.wustl.edu 37 8 141545600 141545600 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012154.3 -1 reviewed p.S739L 1.000 149 0% 71 49.3% 18 44.4% - - - NULL DENND3 22898 genome.wustl.edu 37 8 142185299 142185299 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014957.2 +1 validated p.G679E 1.000 44 0% 56 14.3% 3 0% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL DENND3 22898 genome.wustl.edu 37 8 142185334 142185334 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014957.2 +1 validated p.D691Y 0.989 71 0% 80 40% 1 0% possibly_damaging(0.921) tolerated(0.17) neutral(0.430) NULL FLJ43860 389690 genome.wustl.edu 37 8 142498672 142498672 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207414.2 -1 validated p.C243* 0.975 52 0% 27 48.1% 0 - - - - NULL BAI1 575 genome.wustl.edu 37 8 143570452 143570452 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001702.2 +1 reviewed p.S837G 1.000 11 0% 16 62.5% 0 - benign(0.002) tolerated(0.09) neutral(0.296) NULL GML 2765 genome.wustl.edu 37 8 143928029 143928029 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002066.2 +1 validated p.E134* 0.000 116 0% 72 50% 0 - - - - NULL CYP11B2 1585 genome.wustl.edu 37 8 143994773 143994773 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000498.3 -1 reviewed p.S350I 0.000 40 0% 10 50% 0 - benign(0.019) tolerated(0.19) neutral(0.051) HMMPfam_p450,superfamily_Cytochrome P450 CYP11B2 1585 genome.wustl.edu 37 8 143995789 143995789 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000498.3 -1 reviewed p.R282H 0.000 246 0% 102 46.1% 0 - benign(0.003) tolerated(0.37) neutral(0.019) HMMPfam_p450,superfamily_Cytochrome P450 ZFP41 286128 genome.wustl.edu 37 8 144332254 144332254 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173832.3 +1 provisional p.F81V 0.003 39 0% 72 56.9% 7 57.1% possibly_damaging(0.707) deleterious(0) deleterious(0.700) NULL ZNF623 9831 genome.wustl.edu 37 8 144733279 144733279 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014789.3 +1 validated p.L413I 0.563 268 0% 108 33.3% 19 31.5% possibly_damaging(0.918) tolerated(0.5) neutral(0.379) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000245809 0 genome.wustl.edu 37 8 144733662 144733662 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000501748 -1 known NULL 0.000 155 0% 72 44.4% 17 29.4% - - - - PUF60 22827 genome.wustl.edu 37 8 144898838 144898838 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_078480.1 -1 reviewed p.I511S 1.000 45 0% 208 41.3% 394 43.6% possibly_damaging(0.884) tolerated(0.08) deleterious(0.645) HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD RPL8 6132 genome.wustl.edu 37 8 146015195 146015195 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000973.3 -1 reviewed p.E256D 1.000 85 0% 53 37.7% 3060 43% benign(0.003) tolerated(0.14) neutral(0.249) NULL DOCK8 81704 genome.wustl.edu 37 9 420548 420548 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203447.3 +1 reviewed p.L1262I 1.000 206 0% 226 42% 0 - benign(0.001) tolerated(0.53) neutral(0.007) NULL DOCK8 81704 genome.wustl.edu 37 9 426946 426946 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203447.3 +1 reviewed p.L1367V 0.998 70 0% 61 52.5% 3 0% benign(0.084) deleterious(0) neutral(0.451) NULL DOCK8 81704 genome.wustl.edu 37 9 463592 463592 + Missense_Mutation SNP G G T rs189711349 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203447.3 +1 reviewed p.K1980N 1.000 74 0% 61 39.3% 4 0% possibly_damaging(0.745) deleterious(0.01) deleterious(0.679) HMMPfam_Ded_cyto DMRT2 10655 genome.wustl.edu 37 9 1056959 1056959 + Nonsense_Mutation SNP G G T rs17641078 byCluster;byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181872.4 +1 reviewed p.E458* 1.000 164 0% 74 47.3% 0 - - - - NULL SMARCA2 6595 genome.wustl.edu 37 9 2123867 2123867 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003070.3 +1 reviewed p.F1304S 1.000 44 0% 26 46.2% 32 28.1% benign(0.278) tolerated(0.09) neutral(0.327) NULL VLDLR 7436 genome.wustl.edu 37 9 2644784 2644784 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003383.3 +1 reviewed p.D373Y 1.000 203 0% 139 43.2% 54 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin KIAA0020 9933 genome.wustl.edu 37 9 2831275 2831275 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014878.4 -1 validated p.K196Q 0.996 228 0% 105 41% 23 47.8% benign(0) tolerated(1) - HMMSmart_SM00025,superfamily_ARM repeat GLIS3 169792 genome.wustl.edu 37 9 4118870 4118870 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042413.1 -1 reviewed p.S203L 0.999 112 0% 39 38.5% 8 62.5% unknown(0) tolerated(0.15) - NULL SLC1A1 6505 genome.wustl.edu 37 9 4585483 4585483 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000422398 +1 known p.E218* 1.000 243 0% 71 39.4% 15 40% benign(0.071) deleterious(0) neutral(0.450) NULL CDC37L1 55664 genome.wustl.edu 37 9 4697126 4697126 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017913.2 +1 validated p.R180I 1.000 436 0% 342 46.2% 25 20% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_CDC37_M,superfamily_SSF101391 JAK2 3717 genome.wustl.edu 37 9 5050716 5050716 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004972.3 +1 reviewed p.K167Q 1.000 171 0% 77 41.6% 2 0% benign(0) tolerated(0.34) neutral(0.023) HMMSmart_B41 JAK2 3717 genome.wustl.edu 37 9 5055758 5055758 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004972.3 +1 reviewed p.V342 0.993 154 0% 69 31.9% 2 50% - - - NULL INSL6 11172 genome.wustl.edu 37 9 5164144 5164144 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007179.2 -1 reviewed p.I137 0.000 250 0% 124 22.6% 0 - - - - HMMPfam_Insulin,HMMSmart_IlGF,superfamily_Insulin-like INSL4 3641 genome.wustl.edu 37 9 5231605 5231605 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002195.1 +1 reviewed p.L28 0.000 89 0% 11 45.5% 1 0% - - - NULL RLN1 6013 genome.wustl.edu 37 9 5335427 5335427 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006911.2 -1 reviewed p.E128* 0.015 358 0% 156 35.3% 0 - - - - HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like KIAA1432 57589 genome.wustl.edu 37 9 5772723 5772723 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020829.2 +1 validated p.K1180T 1.000 166 0% 52 42.3% 9 33.3% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL ERMP1 79956 genome.wustl.edu 37 9 5810024 5810024 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024896.2 -1 validated p.R512I 1.000 147 0% 143 49.7% 16 43.7% benign(0.001) tolerated(0.13) neutral(0.253) NULL KIAA2026 158358 genome.wustl.edu 37 9 5920090 5920090 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017969.2 -1 validated p.S1969Y 0.990 262 0% 104 46.2% 8 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL KIAA2026 158358 genome.wustl.edu 37 9 5954061 5954061 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017969.2 -1 validated p.K749N 1.000 410 0% 332 41.6% 2 100% unknown(0) - - NULL KIAA2026 158358 genome.wustl.edu 37 9 5969033 5969033 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017969.2 -1 validated p.C400R 1.000 73 0% 29 24.1% 0 - probably_damaging(0.959) tolerated(0.45) neutral(0.415) NULL KIAA2026 158358 genome.wustl.edu 37 9 5988524 5988524 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017969.2 -1 validated p.T205 1.000 269 0% 86 11.6% 5 0% - - - NULL GLDC 2731 genome.wustl.edu 37 9 6553497 6553497 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000170.2 -1 reviewed p.L776 0.993 239 0% 103 39.8% 0 - - - - superfamily_PyrdxlP-dep_Trfase_major KDM4C 23081 genome.wustl.edu 37 9 7049188 7049188 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015061.3 +1 reviewed p.Q804 1.000 158 0% 38 34.2% 11 36.3% - - - NULL PTPRD 5789 genome.wustl.edu 37 9 8504401 8504401 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002839.3 -1 reviewed p.R561Q 0.952 446 0% 113 43.4% 0 - benign(0.112) tolerated(0.64) neutral(0.012) HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRD 5789 genome.wustl.edu 37 9 8518043 8518043 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002839.3 -1 reviewed p.G450* 1.000 380 0% 129 45.7% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MPDZ 8777 genome.wustl.edu 37 9 13140084 13140084 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003829.3 -1 validated p.P1302H 1.000 120 0% 30 53.3% 4 50% possibly_damaging(0.846) deleterious(0.01) deleterious(0.731) NULL CER1 9350 genome.wustl.edu 37 9 14720372 14720372 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005454.2 -1 reviewed p.E174K 0.999 183 0% 32 50% 0 - probably_damaging(0.979) tolerated(0.05) deleterious(0.767) HMMPfam_DAN,HMMSmart_CT CER1 9350 genome.wustl.edu 37 9 14722211 14722211 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005454.2 -1 reviewed p.S154R 1.000 268 0% 57 49.1% 0 - probably_damaging(0.982) tolerated(0.19) deleterious(0.476) HMMPfam_DAN FREM1 158326 genome.wustl.edu 37 9 14748604 14748604 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144966.5 -1 reviewed p.S1864N 0.988 196 0% 49 30.6% 8 25% benign(0.002) tolerated(0.62) neutral(0.004) NULL FREM1 158326 genome.wustl.edu 37 9 14824059 14824059 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144966.5 -1 reviewed p.K711N 0.982 112 0% 56 57.1% 1 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL PSIP1 11168 genome.wustl.edu 37 9 15468971 15468971 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128217.1 -1 validated p.I397S 1.000 127 0% 70 40% 89 35.9% benign(0.304) deleterious(0) deleterious(0.539) NULL C9orf93 203238 genome.wustl.edu 37 9 15729649 15729649 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173550.2 +1 predicted p.T634 0.216 65 0% 12 66.7% 4 75% - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15744767 15744767 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173550.2 +1 predicted p.K849T 0.987 83 0% 36 47.2% 3 66.6% benign(0) deleterious(0.01) neutral(0.406) NULL C9orf93 203238 genome.wustl.edu 37 9 15784506 15784506 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173550.2 +1 predicted e20-1 1.000 317 0% 59 50.8% 0 - - - - - C9orf93 203238 genome.wustl.edu 37 9 15784593 15784593 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173550.2 +1 predicted p.L1056F 1.000 331 0% 41 41.5% 5 60% possibly_damaging(0.605) deleterious(0) deleterious(0.654) NULL BNC2 54796 genome.wustl.edu 37 9 16419317 16419317 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017637.5 -1 validated p.L990 0.056 215 0% 51 58.8% 0 - - - - NULL BNC2 54796 genome.wustl.edu 37 9 16436132 16436132 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017637.5 -1 validated p.S687Y 1.000 213 0% 61 57.4% 1 0% possibly_damaging(0.861) deleterious(0.03) deleterious(0.698) NULL BNC2 54796 genome.wustl.edu 37 9 16437447 16437447 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017637.5 -1 validated p.L249M 1.000 50 0% 19 42.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CNTLN 54875 genome.wustl.edu 37 9 17298293 17298293 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017738.2 +1 validated p.Q363H 0.876 114 0% 67 38.8% 5 40% possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) NULL CNTLN 54875 genome.wustl.edu 37 9 17394991 17394991 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017738.2 +1 validated p.N847D 1.000 158 0% 27 74.1% 7 71.4% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL FAM154A 158297 genome.wustl.edu 37 9 18928291 18928291 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153707.1 -1 predicted p.G395D 0.000 193 0% 74 39.2% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL HAUS6 54801 genome.wustl.edu 37 9 19078269 19078269 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017645.3 -1 provisional p.R366 0.290 96 0% 96 54.2% 5 40% - - - NULL DENND4C 55667 genome.wustl.edu 37 9 19316629 19316629 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017925.4 +1 provisional p.K297N 0.995 60 0% 85 37.6% 4 0% probably_damaging(0.955) tolerated(0.58) neutral(0.404) NULL DENND4C 55667 genome.wustl.edu 37 9 19346864 19346864 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017925.4 +1 provisional p.R1081Q 0.227 103 0% 60 35% 10 40% possibly_damaging(0.619) deleterious(0.04) deleterious(0.565) NULL LOC392288 392288 genome.wustl.edu 37 9 19460967 19460967 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_373277.5 -1 model p.V364A 0.997 125 0% 174 39.7% 0 - - - - HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like SLC24A2 25769 genome.wustl.edu 37 9 19520959 19520959 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020344.1 -1 provisional p.R557W 1.000 229 0% 38 39.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_Ca_ex KIAA1797 54914 genome.wustl.edu 37 9 20862602 20862602 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017794.3 +1 validated p.N649S 1.000 372 0% 88 45.5% 16 37.5% benign(0.002) tolerated(0.55) neutral(0.007) superfamily_ARM-type_fold KIAA1797 54914 genome.wustl.edu 37 9 20981509 20981509 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017794.3 +1 validated p.N1488H 0.925 164 0% 96 39.6% 37 51.3% benign(0.296) tolerated(0.13) neutral(0.344) superfamily_ARM-type_fold PTPLAD2 401494 genome.wustl.edu 37 9 21015926 21015926 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010915.3 -1 validated p.F118 1.000 326 0% 105 48.6% 5 40% - - - HMMPfam_PTPLA IFNA10 3446 genome.wustl.edu 37 9 21206778 21206778 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002171.1 -1 provisional p.K107Q 0.000 284 0% 184 39.1% 0 - benign(0.002) tolerated(0.92) - HMMPfam_Interferon,HMMSmart_SM00076,superfamily_4-helical cytokines IFNA16 3449 genome.wustl.edu 37 9 21216778 21216778 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002173.2 -1 provisional p.S176Y 0.036 230 0% 198 43.4% 0 - probably_damaging(0.997) tolerated(0.22) deleterious(0.508) HMMPfam_Interferon,superfamily_4-helical cytokines IFNA16 3449 genome.wustl.edu 37 9 21217037 21217037 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002173.2 -1 provisional p.L90I 0.132 171 0.6% 114 49.1% 0 - possibly_damaging(0.923) tolerated(0.07) deleterious(0.692) HMMPfam_Interferon,HMMSmart_SM00076,superfamily_4-helical cytokines IFNA17 3451 genome.wustl.edu 37 9 21228111 21228111 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021268.2 -1 validated p.S21Y 0.326 203 0.5% 83 39.8% 0 - benign(0.014) deleterious(0) neutral(0.445) HMMPfam_Interferon IFNA5 3442 genome.wustl.edu 37 9 21305164 21305164 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002169.2 -1 validated p.S31N 0.000 167 0% 71 50.7% 0 - benign(0.001) tolerated(0.72) neutral(0.002) HMMPfam_Interferon,superfamily_4_helix_cytokine KLHL9 55958 genome.wustl.edu 37 9 21334545 21334545 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018847.2 -1 validated p.K105T 1.000 60 0% 51 35.3% 19 57.8% benign(0.311) tolerated(0.07) neutral(0.416) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB IFNA1 3439 genome.wustl.edu 37 9 21440938 21440938 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024013.1 +1 validated p.K144N 0.117 387 0% 194 27.3% 0 - benign(0.012) deleterious(0) neutral(0.445) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNE 338376 genome.wustl.edu 37 9 21481497 21481497 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176891.4 -1 validated p.S66Y 0.005 146 0% 74 17.6% 0 - possibly_damaging(0.637) deleterious(0.02) deleterious(0.606) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNE 338376 genome.wustl.edu 37 9 21481667 21481667 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176891.4 -1 validated p.T9 0.000 21 0% 24 50% 0 - - - - HMMPfam_Interferon MTAP 4507 genome.wustl.edu 37 9 21854695 21854695 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002451.3 +1 reviewed p.I172 0.120 96 0% 17 47.1% 29 31% - - - HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases PLAA 9373 genome.wustl.edu 37 9 26905933 26905933 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031689.2 -1 validated p.N655T 1.000 92 0% 68 45.6% 72 51.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PUL,superfamily_ARM-type_fold IFT74 80173 genome.wustl.edu 37 9 26980603 26980603 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099222.1 +1 validated p.Y97* 1.000 339 0% 231 41.6% 5 0% - - - NULL LRRC19 64922 genome.wustl.edu 37 9 26996408 26996408 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022901.2 -1 validated p.K229E 0.056 92 0% 120 38.3% 0 - possibly_damaging(0.731) tolerated(0.36) neutral(0.287) superfamily_L domain-like LRRC19 64922 genome.wustl.edu 37 9 26997939 26997939 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022901.2 -1 validated p.L128I 1.000 208 0% 210 41.9% 0 - probably_damaging(0.972) deleterious(0.03) deleterious(0.778) HMMSmart_SM00369,superfamily_L domain-like IFT74 80173 genome.wustl.edu 37 9 27048262 27048262 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099222.1 +1 validated p.N441 1.000 37 0% 47 10.6% 10 30% - - - NULL TEK 7010 genome.wustl.edu 37 9 27197312 27197312 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000459.3 +1 reviewed e12-1 1.000 45 2.2% 21 61.9% 0 - - - - - LINGO2 158038 genome.wustl.edu 37 9 27950434 27950434 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152570.1 -1 provisional p.S79* 0.503 306 0% 100 39% 0 - - - - superfamily_SSF52058 LOC100288436 100288436 genome.wustl.edu 37 9 30559294 30559294 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342887.1 -1 model p.E48D 0.054 103 0% 75 44% 12 0% - - - NULL ACO1 48 genome.wustl.edu 37 9 32423394 32423394 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002197.2 +1 reviewed p.S350P 0.498 233 0% 63 12.7% 10 10% benign(0.193) deleterious(0.04) neutral(0.367) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain DDX58 23586 genome.wustl.edu 37 9 32477110 32477110 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014314.3 -1 reviewed p.E598D 0.017 194 0% 153 49% 20 40% benign(0.362) deleterious(0.05) neutral(0.460) superfamily_P-loop containing nucleoside triphosphate hydrolases TOPORS 10210 genome.wustl.edu 37 9 32544292 32544292 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005802.3 -1 reviewed p.M77I 1.000 52 0% 38 36.8% 4 75% unknown(0) deleterious(0.02) - NULL TAF1L 138474 genome.wustl.edu 37 9 32631388 32631388 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153809.2 -1 provisional p.R1397H 1.000 520 0% 181 48.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_BROMO,superfamily_Bromodomain TAF1L 138474 genome.wustl.edu 37 9 32633289 32633289 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153809.2 -1 provisional p.E763D 1.000 447 0.2% 348 39.1% 0 - probably_damaging(0.988) tolerated(0.05) deleterious(0.783) NULL TMEM215 401498 genome.wustl.edu 37 9 32784354 32784354 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_212558.2 +1 validated p.A58V 1.000 148 0% 50 48% 0 - possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33529077 33529077 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001718334.2 +1 model p.G262D 0.977 131 0% 157 43.3% 0 - probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD18B 441459 genome.wustl.edu 37 9 33536922 33536922 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001718334.2 +1 model p.H391N 0.001 78 0% 130 41.5% 0 - benign(0.017) tolerated(0.28) neutral(0.032) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33548174 33548174 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001718334.2 +1 model p.N529T 0.553 198 0% 100 45% 0 - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33548335 33548335 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001718334.2 +1 model p.L583I 0.733 236 0% 105 41.9% 0 - probably_damaging(0.984) deleterious(0.04) deleterious(0.779) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33566403 33566403 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001718334.2 +1 model p.D949Y 0.002 20 0% 28 35.7% 0 - possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33568882 33568882 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001718334.2 +1 model p.S1122 0.026 87 0% 84 51.2% 0 - - - - NULL UBAP1 51271 genome.wustl.edu 37 9 34250704 34250704 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016525.4 +1 reviewed p.D439N 1.000 145 0% 168 39.9% 75 38.6% probably_damaging(0.975) deleterious(0.04) deleterious(0.766) NULL KIF24 347240 genome.wustl.edu 37 9 34257585 34257585 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194313.2 -1 validated p.R674* 0.021 106 0% 54 33.3% 2 0% - - - NULL FAM205A 259308 genome.wustl.edu 37 9 34723774 34723774 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001141917.1 -1 validated p.P1155T 0.004 126 0% 99 34.3% 0 - possibly_damaging(0.886) tolerated(0.15) deleterious(0.587) NULL FAM205A 259308 genome.wustl.edu 37 9 34724644 34724644 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001141917.1 -1 validated p.T865A 0.000 73 0% 105 35.2% 0 - benign(0.073) tolerated(0.11) neutral(0.277) NULL ENSG00000232067 0 genome.wustl.edu 37 9 34834986 34834986 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000455647 -1 known p.S168Y 0.923 123 0% 80 8.7% 0 - possibly_damaging(0.899) deleterious(0) deleterious(0.800) NULL DNAJB5 25822 genome.wustl.edu 37 9 34993342 34993342 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135005.1 +1 validated p.E110* 1.000 73 0% 56 42.9% 8 62.5% - - - HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain C9orf131 138724 genome.wustl.edu 37 9 35042394 35042394 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203299.2 +1 validated p.F48S 1.000 433 0% 60 41.7% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL PIGO 84720 genome.wustl.edu 37 9 35094286 35094286 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032634.2 -1 reviewed p.F194L 1.000 221 0% 115 43.5% 18 44.4% benign(0) tolerated(0.29) neutral(0.029) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like FAM214B 80256 genome.wustl.edu 37 9 35107989 35107989 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025182.2 -1 predicted p.E95* 1.000 26 0% 15 46.7% 6 16.6% - - - NULL FAM214B 80256 genome.wustl.edu 37 9 35108113 35108113 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025182.2 -1 predicted p.F53 1.000 8 0.000 10 0.700 0 - - - - NULL LOC730110 730110 genome.wustl.edu 37 9 35148270 35148270 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342891.1 -1 model p.K304N 0.998 23 0% 54 55.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers UNC13B 10497 genome.wustl.edu 37 9 35237793 35237793 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006377.3 +1 reviewed p.L122V 1.000 164 0% 87 51.7% 2 50% benign(0.033) deleterious(0) neutral(0.446) superfamily_C2_CaLB UNC13B 10497 genome.wustl.edu 37 9 35389944 35389944 + Missense_Mutation SNP G G T rs190693606 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006377.3 +1 reviewed p.K983N 1.000 249 0% 82 45.1% 15 60% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) HMMPfam_DUF1041 RUSC2 9853 genome.wustl.edu 37 9 35557958 35557958 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135999.1 +1 validated p.F1011V 1.000 236 0.4% 72 51.4% 15 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RGP1 9827 genome.wustl.edu 37 9 35750849 35750849 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080496.1 +1 provisional p.E157G 1.000 148 0% 118 46.6% 4 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Rgp1 NPR2 4882 genome.wustl.edu 37 9 35800118 35800118 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003995.3 +1 reviewed p.R363* 0.991 350 0% 137 50.4% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I NPR2 4882 genome.wustl.edu 37 9 35802783 35802783 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003995.3 +1 reviewed p.I624V 1.000 436 0.2% 188 40.4% 7 57.1% benign(0.086) deleterious(0.02) neutral(0.390) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SPAG8 26206 genome.wustl.edu 37 9 35811994 35811994 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172312.1 -1 reviewed p.L17V 0.019 29 0% 21 52.4% 1 100% unknown(0) deleterious(0) - NULL C9orf128 392307 genome.wustl.edu 37 9 35825640 35825640 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012446.2 -1 validated p.E173D 0.636 371 0% 405 44.4% 0 - benign(0.055) tolerated(0.11) neutral(0.275) NULL OR13J1 392309 genome.wustl.edu 37 9 35869601 35869601 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004487.1 -1 provisional p.E266D 0.000 224 0% 51 45.1% 0 - benign(0.008) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RECK 8434 genome.wustl.edu 37 9 36121555 36121555 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021111.2 +1 reviewed p.V855G 1.000 120 0% 113 45.1% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL GNE 10020 genome.wustl.edu 37 9 36234070 36234070 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128227.1 -1 reviewed p.R308C 1.000 172 0% 97 37.1% 11 72.7% possibly_damaging(0.944) tolerated(0.06) deleterious(0.711) HMMPfam_Epimerase_2,superfamily_SSF53756 FBXO10 26267 genome.wustl.edu 37 9 37541743 37541743 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012166.2 -1 validated p.L8S 1.000 22 0% 13 53.8% 4 0% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383 FRMPD1 22844 genome.wustl.edu 37 9 37719098 37719098 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014907.2 +1 validated p.E147D 1.000 139 0% 69 46.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_PDZ FRMPD1 22844 genome.wustl.edu 37 9 37745905 37745905 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014907.2 +1 validated p.E1292D 0.030 115 0% 85 47.1% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL FRMPD1 22844 genome.wustl.edu 37 9 37746120 37746120 + Missense_Mutation SNP C C G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014907.2 +1 validated p.A1364G 0.809 39 0% 28 64.3% 0 - probably_damaging(0.991) tolerated(0.05) deleterious(0.789) NULL FRMPD1 22844 genome.wustl.edu 37 9 37746210 37746210 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014907.2 +1 validated p.S1394L 0.000 21 0% 18 38.9% 0 - benign(0.178) deleterious(0.02) neutral(0.400) NULL RG9MTD3 158234 genome.wustl.edu 37 9 37762635 37762635 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144964.2 +1 validated p.R83I 1.000 127 0% 119 33.6% 8 25% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MCART1 92014 genome.wustl.edu 37 9 37887836 37887836 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033412.3 -1 validated p.R238C 1.000 113 0% 184 40.2% 14 42.8% probably_damaging(1) tolerated(0.16) deleterious(0.559) superfamily_Mitoch_carrier,HMMPfam_Mito_carr ANKRD18A 253650 genome.wustl.edu 37 9 38611219 38611219 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000399703 -1 known p.F199V 0.000 185 0% 205 10.7% 0 - benign(0.021) tolerated(0.33) neutral(0.025) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD18A 253650 genome.wustl.edu 37 9 38611274 38611274 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000399703 -1 known p.Q180 0.178 219 0% 249 40.2% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ZNF658 26149 genome.wustl.edu 37 9 40772208 40772208 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033160.5 -1 validated p.E1023* 0.859 149 0% 85 25.9% 8 25% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF658 26149 genome.wustl.edu 37 9 40772822 40772822 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033160.5 -1 validated p.R818I 1.000 240 0% 127 38.6% 3 33.3% probably_damaging(0.975) tolerated(0.23) neutral(0.458) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF658 26149 genome.wustl.edu 37 9 40774334 40774334 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033160.5 -1 validated p.Q314R 0.000 330 0% 202 44.6% 1 100% benign(0.023) tolerated(0.68) neutral(0.003) superfamily_C2H2 and C2HC zinc fingers LOC100289454 100289454 genome.wustl.edu 37 9 44067650 44067650 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002342913.1 -1 model p.Q58H 0.992 29 0% 26 57.7% 0 - - - - NULL CBWD6 644019 genome.wustl.edu 37 9 69205472 69205472 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001085457.1 -1 provisional p.R356* 1.000 288 0% 157 33.8% 7 42.8% - - - HMMPfam_CobW_C,superfamily_Cbl_biosynth_CobW-like_C FAM122A 116224 genome.wustl.edu 37 9 71395725 71395725 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138333.3 +1 validated p.K215N 1.000 133 0% 114 36% 22 22.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PIP5K1B 8395 genome.wustl.edu 37 9 71504008 71504008 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003558.2 +1 validated p.E144* 1.000 296 0% 171 48.5% 0 - - - - HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like PIP5K1B 8395 genome.wustl.edu 37 9 71532490 71532490 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003558.2 +1 validated p.D266 1.000 205 0% 115 40.9% 2 0% - - - HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like PRKACG 5568 genome.wustl.edu 37 9 71628877 71628877 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002732.3 -1 reviewed p.F44 1.000 93 1.1% 43 39.5% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TJP2 9414 genome.wustl.edu 37 9 71840318 71840318 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004817.3 +1 reviewed p.L351I 1.000 27 0% 62 43.5% 21 38% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like C9orf135 138255 genome.wustl.edu 37 9 72459519 72459519 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010940.1 +1 validated p.R80Q 0.895 64 0% 63 50.8% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL MAMDC2 256691 genome.wustl.edu 37 9 72723137 72723137 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153267.4 +1 validated p.I53M 1.000 370 0% 119 42.9% 0 - possibly_damaging(0.778) tolerated(0.46) neutral(0.303) HMMPfam_MAM,HMMSmart_SM00137 SMC5 23137 genome.wustl.edu 37 9 72893452 72893452 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015110.3 +1 validated p.E197K 1.000 111 0.9% 86 27.9% 13 23% benign(0.081) tolerated(0.09) neutral(0.302) HMMPfam_SMC_N,superfamily_SSF52540 SMC5 23137 genome.wustl.edu 37 9 72938947 72938947 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015110.3 +1 validated p.S762Y 0.399 50 0% 68 83.8% 15 93.3% benign(0.075) deleterious(0.03) neutral(0.369) HMMPfam_SMC_N,superfamily_SSF52540 TRPM3 80036 genome.wustl.edu 37 9 73167950 73167950 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007471.2 -1 reviewed p.F1116L 1.000 174 0% 43 48.8% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL TRPM3 80036 genome.wustl.edu 37 9 73399023 73399023 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000396280 -1 known p.R229W 1.000 176 0% 30 50% 0 - - - - NULL TRPM3 80036 genome.wustl.edu 37 9 73399135 73399135 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007471.2 -1 reviewed p.S345L 0.998 173 0% 44 52.3% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL TMEM2 23670 genome.wustl.edu 37 9 74305044 74305044 + Missense_Mutation SNP C C T rs185936154 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013390.2 -1 validated p.R1272H 0.000 140 0% 46 39.1% 29 44.8% benign(0.036) tolerated(0.26) neutral(0.036) NULL TMEM2 23670 genome.wustl.edu 37 9 74365057 74365057 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013390.2 -1 validated p.R78I 1.000 124 0% 80 36.2% 9 33.3% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL RORB 6096 genome.wustl.edu 37 9 77249628 77249628 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006914.3 +1 reviewed p.R59G 1.000 90 0% 23 47.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) RORB 6096 genome.wustl.edu 37 9 77277434 77277434 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006914.3 +1 reviewed p.H268 0.997 194 0% 68 52.9% 0 - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain RORB 6096 genome.wustl.edu 37 9 77286757 77286757 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006914.3 +1 reviewed p.I388M 1.000 164 0% 60 20% 0 - benign(0.108) deleterious(0.02) neutral(0.392) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain TRPM6 140803 genome.wustl.edu 37 9 77359092 77359092 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000361255 -1 known p.I1682L 1.000 127 0% 111 40.5% 0 - benign(0.25) tolerated(0.37) neutral(0.044) NULL TRPM6 140803 genome.wustl.edu 37 9 77403589 77403589 + Missense_Mutation SNP C C T rs180963446 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017662.4 -1 reviewed p.V870M 0.980 166 0% 41 34.1% 0 - probably_damaging(0.988) tolerated(0.18) deleterious(0.493) NULL TRPM6 140803 genome.wustl.edu 37 9 77455146 77455146 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017662.4 -1 reviewed p.R113I 1.000 161 0% 96 51% 0 - unknown(0) deleterious(0) - NULL C9orf41 138199 genome.wustl.edu 37 9 77614687 77614687 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152420.1 -1 predicted p.W230* 1.000 102 0% 69 46.4% 2 0% - - - HMMPfam_N2227,superfamily_SSF53335 PCSK5 5125 genome.wustl.edu 37 9 78749036 78749036 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006200.3 +1 reviewed p.T407N 1.000 257 0% 42 33.3% 0 - possibly_damaging(0.758) deleterious(0.02) deleterious(0.663) HMMPfam_Peptidase_S8,superfamily_Subtilisin-like PCSK5 5125 genome.wustl.edu 37 9 78784711 78784711 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006200.3 +1 reviewed p.E571* 1.000 212 0% 63 39.7% 1 0% - - - HMMPfam_P_proprotein,superfamily_Galactose-binding domain-like PCSK5 5125 genome.wustl.edu 37 9 78808227 78808227 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006200.3 +1 reviewed p.L901I 1.000 257 0% 72 40.3% 1 0% benign(0.026) tolerated(0.13) neutral(0.254) HMMPfam_PLAC PRUNE2 158471 genome.wustl.edu 37 9 79267457 79267457 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000426088 -1 known p.Q2155K 1.000 270 0% 66 16.7% 1 0% - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79324138 79324138 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015225.2 -1 validated p.S1018A 0.000 238 0% 187 46.5% 0 - possibly_damaging(0.781) tolerated(0.8) neutral(0.293) NULL PRUNE2 158471 genome.wustl.edu 37 9 79324317 79324317 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015225.2 -1 validated p.S958L 0.317 220 0% 195 36.4% 0 - benign(0.125) tolerated(1) neutral(0.011) NULL FOXB2 442425 genome.wustl.edu 37 9 79634910 79634910 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013735.1 +1 provisional p.A114T 0.990 6 0.000 16 0.500 0 - unknown(0) tolerated(0.08) - NULL VPS13A 23230 genome.wustl.edu 37 9 79836245 79836245 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033305.2 +1 reviewed p.P378 0.278 126 0% 77 51.9% 2 0% - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79888212 79888212 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033305.2 +1 reviewed p.S815Y 0.005 149 0% 165 40% 0 - benign(0.258) deleterious(0.04) neutral(0.376) NULL VPS13A 23230 genome.wustl.edu 37 9 79972732 79972732 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033305.2 +1 reviewed p.R2644I 1.000 53 0% 34 50% 7 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL VPS13A 23230 genome.wustl.edu 37 9 79980412 79980412 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033305.2 +1 reviewed p.E2750* 0.994 127 0% 140 45.7% 6 16.6% - - - NULL GNA14 9630 genome.wustl.edu 37 9 80038963 80038963 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004297.3 -1 reviewed p.R334C 1.000 176 0% 125 36.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases TLE4 7091 genome.wustl.edu 37 9 82319777 82319777 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007005.3 +1 validated p.K230R 1.000 256 0% 99 42.4% 1 0% benign(0.002) deleterious(0.02) neutral(0.383) NULL TLE4 7091 genome.wustl.edu 37 9 82321803 82321803 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007005.3 +1 validated p.E309* 1.000 419 0% 111 42.3% 1 0% - - - NULL FAM75D1 389763 genome.wustl.edu 37 9 84603818 84603818 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001670.2 +1 validated p.F29I 0.000 1437 0% 401 36.2% 0 - possibly_damaging(0.616) tolerated(0.13) neutral(0.467) NULL FAM75D1 389763 genome.wustl.edu 37 9 84607947 84607947 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001670.2 +1 validated p.W854* 0.001 329 0% 161 45.3% 0 - - - - NULL RASEF 158158 genome.wustl.edu 37 9 85615102 85615102 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152573.2 -1 provisional p.N569H 1.000 235 0% 94 43.6% 10 40% possibly_damaging(0.496) deleterious(0.05) deleterious(0.511) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RASEF 158158 genome.wustl.edu 37 9 85637289 85637289 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152573.2 -1 provisional p.Q211K 1.000 632 0% 159 41.5% 12 41.6% possibly_damaging(0.825) tolerated(0.19) neutral(0.362) NULL FRMD3 257019 genome.wustl.edu 37 9 85914034 85914034 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174938.4 -1 validated p.R332* 1.000 390 0% 240 33.3% 0 - - - - HMMPfam_FA,superfamily_PH domain-like KIF27 55582 genome.wustl.edu 37 9 86482758 86482758 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017576.1 -1 provisional p.K925N 1.000 105 0% 186 45.2% 4 25% possibly_damaging(0.739) deleterious(0) deleterious(0.715) NULL RMI1 80010 genome.wustl.edu 37 9 86617656 86617656 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024945.2 +1 validated p.L585 1.000 166 0% 161 44.1% 9 44.4% - - - NULL SLC28A3 64078 genome.wustl.edu 37 9 86900348 86900348 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022127.1 -1 provisional p.F520C 1.000 210 0% 120 50% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Nucleos_tra2_C NTRK2 4915 genome.wustl.edu 37 9 87285871 87285871 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006180.3 +1 reviewed p.E70K 1.000 108 0% 32 37.5% 0 - benign(0.336) tolerated(0.11) neutral(0.378) superfamily_SSF52058 NTRK2 4915 genome.wustl.edu 37 9 87317111 87317111 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006180.3 +1 reviewed p.E84K 1.000 298 0% 110 19.1% 0 - benign(0.208) tolerated(0.72) neutral(0.022) superfamily_SSF52058 NTRK2 4915 genome.wustl.edu 37 9 87359925 87359925 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006180.3 +1 reviewed p.T411 0.160 257 0% 78 57.7% 0 - - - - NULL AGTPBP1 23287 genome.wustl.edu 37 9 88257803 88257803 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015239.2 -1 validated p.R374Q 1.000 228 0% 252 44.8% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AGTPBP1 23287 genome.wustl.edu 37 9 88272469 88272469 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015239.2 -1 validated p.R264 1.000 137 0% 59 54.2% 13 53.8% - - - superfamily_ARM-type_fold NAA35 60560 genome.wustl.edu 37 9 88592349 88592349 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024635.3 +1 validated p.F250L 1.000 195 0% 98 34.7% 22 72.7% benign(0.336) tolerated(0.63) neutral(0.110) NULL GOLM1 51280 genome.wustl.edu 37 9 88648244 88648244 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016548.3 -1 reviewed p.E361G 0.604 700 0% 335 44.2% 243 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZCCHC6 79670 genome.wustl.edu 37 9 88937268 88937268 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024617.3 -1 validated p.I1000 0.986 150 0% 85 48.2% 8 25% - - - superfamily_Nucleotidyltransferase C9orf170 401535 genome.wustl.edu 37 9 89771491 89771491 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001709.2 +1 validated p.L58M 0.003 61 0% 44 38.6% 0 - unknown(0) - - NULL DAPK1 1612 genome.wustl.edu 37 9 90258300 90258300 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004938.2 +1 reviewed p.R310C 1.000 106 0% 32 34.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DAPK1 1612 genome.wustl.edu 37 9 90322224 90322224 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004938.2 +1 reviewed p.S1413L 0.918 43 0% 31 54.8% 18 27.7% benign(0.039) deleterious(0.02) neutral(0.385) NULL C9orf79 286234 genome.wustl.edu 37 9 90501794 90501794 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178828.4 +1 validated p.K798E 0.000 108 0% 45 60% 0 - benign(0.052) tolerated(1) neutral(0.003) NULL SPIN1 10927 genome.wustl.edu 37 9 91077582 91077582 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006717.2 +1 validated p.Y91 1.000 257 0% 104 51.9% 24 45.8% - - - HMMPfam_Spin-Ssty LOC286238 286238 genome.wustl.edu 37 9 91262452 91262452 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100111.1 -1 validated p.T64I 0.002 216 0% 136 44.9% 0 - - - - NULL C9orf47 286223 genome.wustl.edu 37 9 91606756 91606756 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000375850 +1 known p.T187 0.003 46 0% 29 48.3% 0 - - - - NULL SHC3 53358 genome.wustl.edu 37 9 91690043 91690043 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016848.4 -1 validated p.R237Q 1.000 189 0% 49 44.9% 0 - benign(0.299) tolerated(0.07) neutral(0.411) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like SECISBP2 79048 genome.wustl.edu 37 9 91934609 91934609 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024077.3 +1 reviewed p.F27V 0.998 110 0% 160 48.1% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NOL8 55035 genome.wustl.edu 37 9 95078225 95078225 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017948.5 -1 validated p.S228R 0.000 238 0% 107 47.7% 10 50% possibly_damaging(0.718) tolerated(0.34) neutral(0.283) NULL NOL8 55035 genome.wustl.edu 37 9 95078277 95078277 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017948.5 -1 validated p.F210 0.979 385 0% 124 43.5% 14 50% - - - NULL CENPP 401541 genome.wustl.edu 37 9 95099829 95099829 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012267.1 +1 validated p.R99I 0.993 82 0% 89 40.4% 4 50% possibly_damaging(0.836) deleterious(0.04) deleterious(0.668) NULL OGN 4969 genome.wustl.edu 37 9 95152322 95152322 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014057.3 -1 reviewed p.L148 0.873 111 0% 194 42.3% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like OMD 4958 genome.wustl.edu 37 9 95179223 95179223 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005014.2 -1 validated p.K206N 0.000 146 0% 90 47.8% 0 - benign(0.002) tolerated(0.23) neutral(0.042) HMMSmart_SM00369,superfamily_L domain-like ASPN 54829 genome.wustl.edu 37 9 95232983 95232983 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017680.3 -1 validated p.E119* 1.000 258 0% 223 43.9% 0 - - - - HMMPfam_LRR_1,superfamily_SSF52058 BICD2 23299 genome.wustl.edu 37 9 95481751 95481751 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003800.1 -1 reviewed p.E392D 1.000 47 0% 39 56.4% 13 53.8% benign(0.041) tolerated(0.34) neutral(0.025) HMMPfam_BicD C9orf129 445577 genome.wustl.edu 37 9 96097679 96097679 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098808.1 -1 provisional p.D114 0.939 153 0% 58 44.8% 16 0% - - - NULL FAM120A 23196 genome.wustl.edu 37 9 96261097 96261097 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014612.3 +1 validated p.R320Q 1.000 204 0% 224 46.4% 30 43.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZNF169 169841 genome.wustl.edu 37 9 97062891 97062891 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194320.2 +1 validated p.C351R 0.998 90 0% 45 48.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM22F 54754 genome.wustl.edu 37 9 97081946 97081946 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017561.1 -1 validated p.F478L 0.000 233 0% 223 37.7% 0 - probably_damaging(0.988) tolerated(1) neutral(0.438) NULL HIATL1 84641 genome.wustl.edu 37 9 97221466 97221466 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000447692 +1 known p.V136I 0.570 291 0% 141 43.3% 32 53.1% benign(0) tolerated(0.63) neutral(0.004) NULL FANCC 2176 genome.wustl.edu 37 9 98003008 98003008 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000136.2 -1 reviewed p.L90I 1.000 80 0% 222 39.2% 3 100% benign(0.211) deleterious(0.05) neutral(0.366) HMMPfam_Fanconi_C PTCH1 5727 genome.wustl.edu 37 9 98220556 98220556 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000264.3 -1 reviewed p.I969 0.066 39 0% 25 44% 8 12.5% - - - HMMPfam_Patched C9orf102 375748 genome.wustl.edu 37 9 98684594 98684594 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010895.2 +1 validated p.S447Y 0.596 133 0% 30 50% 9 44.4% possibly_damaging(0.712) deleterious(0) deleterious(0.702) HMMPfam_SNF2_N C9orf102 375748 genome.wustl.edu 37 9 98775266 98775266 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000407474 +1 known p.F459L 1.000 42 0% 50 50% 9 11.1% benign(0.097) tolerated(0.11) neutral(0.279) NULL ZNF782 158431 genome.wustl.edu 37 9 99581298 99581298 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001662.1 -1 provisional p.K336T 0.009 179 0% 87 46% 4 50% possibly_damaging(0.569) deleterious(0) deleterious(0.639) superfamily_C2H2 and C2HC zinc fingers ZNF322P1 387328 genome.wustl.edu 37 9 99961590 99961590 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199005.1 -1 validated p.E68D 1.000 188 0% 192 59.4% 5 0% possibly_damaging(0.443) deleterious(0.01) deleterious(0.550) superfamily_SSF57667 TSTD2 158427 genome.wustl.edu 37 9 100388052 100388052 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139246.4 -1 validated p.K131N 0.001 221 0% 110 40% 3 33.3% benign(0) tolerated(0.46) neutral(0.012) NULL NCBP1 4686 genome.wustl.edu 37 9 100420939 100420939 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002486.4 +1 reviewed p.R464H 1.000 326 0% 258 44.6% 28 42.8% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_MIF4G_like,superfamily_ARM-type_fold C9orf156 51531 genome.wustl.edu 37 9 100672590 100672590 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016481.3 -1 validated p.I240V 0.000 240 0% 166 42.2% 12 58.3% benign(0) tolerated(0.62) neutral(0.004) NULL ANP32B 10541 genome.wustl.edu 37 9 100757060 100757060 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006401.2 +1 validated p.K68Q 1.000 82 0% 163 39.9% 233 41.2% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_Outer arm dynein light chain 1 ANP32B 10541 genome.wustl.edu 37 9 100760861 100760861 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006401.2 +1 validated p.I76 0.999 196 0% 262 39.7% 259 38.2% - - - superfamily_Outer arm dynein light chain 1 TRIM14 9830 genome.wustl.edu 37 9 100849612 100849612 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000311688 -1 known p.H236 0.000 198 0% 119 44.5% 2 0% - - - NULL CORO2A 7464 genome.wustl.edu 37 9 100888861 100888861 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003389.3 -1 reviewed p.F472 0.966 97 0% 91 47.3% 1 0% - - - NULL TBC1D2 55357 genome.wustl.edu 37 9 100962647 100962647 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000375064 -1 known p.R823C 1.000 92 0% 43 41.9% 16 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC GABBR2 9568 genome.wustl.edu 37 9 101065551 101065551 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005458.7 -1 reviewed p.N795S 1.000 307 0% 121 40.5% 0 - benign(0.054) deleterious(0.01) neutral(0.409) NULL ANKS6 203286 genome.wustl.edu 37 9 101539719 101539719 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173551.3 -1 provisional p.G529* 0.981 105 0% 171 36.8% 12 33.3% - - - NULL COL15A1 1306 genome.wustl.edu 37 9 101777744 101777744 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001855.3 +1 reviewed p.E467K 0.001 96 0% 26 42.3% 7 0% benign(0.004) tolerated(0.61) neutral(0.004) NULL NR4A3 8013 genome.wustl.edu 37 9 102595719 102595719 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173200.1 +1 reviewed p.D424Y 1.000 208 0.5% 155 41.9% 0 - possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) superfamily_Str_ncl_receptor ERP44 23071 genome.wustl.edu 37 9 102784415 102784415 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015051.1 -1 validated p.R127Q 1.000 344 0% 121 54.5% 78 37.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin TEX10 54881 genome.wustl.edu 37 9 103072627 103072627 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017746.3 -1 validated p.R746Q 1.000 212 0% 99 43.4% 53 41.5% possibly_damaging(0.657) tolerated(0.19) neutral(0.281) NULL MSANTD3 91283 genome.wustl.edu 37 9 103204339 103204339 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080655.1 +1 predicted p.R40Q 0.421 47 0% 37 40.5% 29 55.1% probably_damaging(0.995) tolerated(0.57) neutral(0.464) NULL LPPR1 54886 genome.wustl.edu 37 9 104048497 104048497 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017753.2 +1 reviewed p.R122* 1.000 133 0% 66 51.5% 0 - - - - superfamily_AcPase_VanPerase BAAT 570 genome.wustl.edu 37 9 104133522 104133522 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127610.1 -1 reviewed p.F55 0.188 111 0% 24 54.2% 0 - - - - HMMPfam_Bile_Hydr_Trans ZNF189 7743 genome.wustl.edu 37 9 104170739 104170739 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003452.2 +1 validated p.R230I 1.000 159 0% 56 48.2% 10 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_C2H2 and C2HC zinc fingers ZNF189 7743 genome.wustl.edu 37 9 104171359 104171359 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003452.2 +1 validated p.F437I 1.000 85 0% 32 59.4% 13 53.8% benign(0.301) deleterious(0) deleterious(0.537) NULL ALDOB 229 genome.wustl.edu 37 9 104187236 104187236 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000035.3 -1 reviewed p.W296* 1.000 123 0% 25 24% 0 - - - - HMMPfam_Glycolytic,superfamily_Aldolase PPP3R2 5535 genome.wustl.edu 37 9 104357027 104357027 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_147180.2 -1 provisional p.I62 0.978 55 0% 43 39.5% 0 - - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 CYLC2 1539 genome.wustl.edu 37 9 105767122 105767122 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001340.3 +1 reviewed p.S109Y 0.000 128 0% 65 35.4% 0 - probably_damaging(0.995) tolerated(0.1) deleterious(0.744) NULL CYLC2 1539 genome.wustl.edu 37 9 105767543 105767543 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001340.3 +1 reviewed p.K210N 0.000 248 0% 159 45.9% 0 - unknown(0) tolerated(0.43) - NULL CYLC2 1539 genome.wustl.edu 37 9 105767828 105767828 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001340.3 +1 reviewed p.K305N 0.001 291 0% 133 45.1% 0 - unknown(0) tolerated(0.51) - NULL SMC2 10592 genome.wustl.edu 37 9 106892067 106892067 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042550.1 +1 validated p.K978E 1.000 86 0% 29 17.2% 38 36.8% benign(0.01) deleterious(0) neutral(0.445) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases OR13F1 138805 genome.wustl.edu 37 9 107267209 107267209 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004485.1 +1 provisional p.L222 0.145 252 0% 99 49.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR13C3 138803 genome.wustl.edu 37 9 107298736 107298736 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001961.1 -1 provisional p.R120I 0.003 264 0% 84 38.1% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_7tm_1,superfamily_SSF81321 ABCA1 19 genome.wustl.edu 37 9 107558396 107558396 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005502.2 -1 reviewed p.N1774D 1.000 339 0% 43 46.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ABCA1 19 genome.wustl.edu 37 9 107562134 107562134 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005502.2 -1 reviewed p.N1637D 1.000 259 0% 73 52.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ABCA1 19 genome.wustl.edu 37 9 107571802 107571802 + Missense_Mutation SNP C C T rs189206655 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005502.2 -1 reviewed p.A1407T 1.000 291 0% 98 37.8% 1 0% benign(0.142) tolerated(0.67) neutral(0.015) NULL FKTN 2218 genome.wustl.edu 37 9 108380278 108380278 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079802.1 +1 reviewed p.D317Y 1.000 68 0% 52 50% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LicD FKTN 2218 genome.wustl.edu 37 9 108397408 108397408 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079802.1 +1 reviewed p.E417K 0.316 359 0% 63 42.9% 3 0% benign(0.002) tolerated(0.28) neutral(0.032) HMMPfam_LicD TMEM38B 55151 genome.wustl.edu 37 9 108536337 108536337 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018112.1 +1 provisional p.K284N 0.991 120 0% 33 42.4% 6 83.3% possibly_damaging(0.819) tolerated(0.13) deleterious(0.562) NULL ZNF462 58499 genome.wustl.edu 37 9 109688180 109688180 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021224.4 +1 validated p.L663I 1.000 218 0.5% 107 35.5% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109689603 109689603 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021224.4 +1 validated p.H1137R 1.000 38 0% 22 50% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) HMMSmart_SM00355,superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109734438 109734438 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021224.4 +1 validated p.E2194K 1.000 286 0.3% 37 40.5% 0 - probably_damaging(0.971) tolerated(0.12) deleterious(0.673) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 ENSG00000199905 0 genome.wustl.edu 37 9 110237391 110237391 + RNA SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000363035 -1 novel NULL 0.019 21 0% 59 42.4% 0 - - - - - CTNNAL1 8727 genome.wustl.edu 37 9 111727766 111727766 + Nonsense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003798.2 -1 provisional p.K495* 1.000 155 0% 103 50.5% 41 2.4% - - - superfamily_alpha-catenin/vinculin SVEP1 79987 genome.wustl.edu 37 9 113173745 113173745 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153366.3 -1 validated p.F2082L 1.000 37 0% 27 55.6% 4 0% possibly_damaging(0.882) tolerated(0.68) neutral(0.346) superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113198675 113198675 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153366.3 -1 validated p.V1583 0.994 191 0% 38 26.3% 1 0% - - - HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases MUSK 4593 genome.wustl.edu 37 9 113547272 113547272 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005592.3 +1 reviewed p.R521I 1.000 269 0% 191 47.1% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL LPAR1 1902 genome.wustl.edu 37 9 113704261 113704261 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001401.3 -1 reviewed p.R78H 1.000 108 0% 34 61.8% 11 54.5% possibly_damaging(0.892) tolerated(0.07) deleterious(0.670) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2K2 26248 genome.wustl.edu 37 9 114090145 114090145 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_205859.1 -1 provisional p.S190I 0.066 177 0% 62 40.3% 0 - benign(0.327) deleterious(0) deleterious(0.547) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KIAA0368 23392 genome.wustl.edu 37 9 114128579 114128579 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080398.1 -1 provisional p.D1928N 1.000 239 0% 77 39% 125 36.8% benign(0.002) tolerated(0.13) neutral(0.253) superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114131419 114131419 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080398.1 -1 provisional p.K1848T 0.989 448 0% 99 43.4% 119 45.3% benign(0.142) tolerated(0.53) neutral(0.019) superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114134016 114134016 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080398.1 -1 provisional p.G1719V 1.000 216 0% 39 41% 80 53.7% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) superfamily_ARM repeat ZNF483 158399 genome.wustl.edu 37 9 114305095 114305095 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133464.2 +1 validated p.R627I 0.993 164 0% 53 37.7% 3 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF483 158399 genome.wustl.edu 37 9 114305263 114305263 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133464.2 +1 validated p.R683Q 0.923 127 0% 52 34.6% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C9orf84 158401 genome.wustl.edu 37 9 114490068 114490068 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173521.3 -1 validated p.K496T 0.997 209 0% 139 51.8% 0 - benign(0.236) tolerated(0.36) neutral(0.043) NULL SUSD1 64420 genome.wustl.edu 37 9 114874078 114874078 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000374263 -1 known p.R343C 0.974 551 0.2% 128 56.2% 19 36.8% benign(0.118) deleterious(0.01) neutral(0.415) NULL PTBP3 9991 genome.wustl.edu 37 9 115030442 115030442 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005156.5 -1 validated p.V108I 1.000 243 0% 166 45.8% 11 45.4% benign(0) tolerated(0.52) neutral(0.009) HMMSmart_SM00360,superfamily_RNA-binding domain RBD SNX30 401548 genome.wustl.edu 37 9 115580096 115580096 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012994.1 +1 validated e3+1 1.000 436 0% 143 41.3% 0 - - - - - ZFP37 7539 genome.wustl.edu 37 9 115805792 115805792 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003408.1 -1 provisional p.R369I 1.000 99 0% 51 35.3% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP37 7539 genome.wustl.edu 37 9 115806167 115806167 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003408.1 -1 provisional p.K244T 0.995 507 0% 192 25.5% 6 16.6% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL SLC31A1 1317 genome.wustl.edu 37 9 116021003 116021003 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001859.3 +1 validated p.L78V 1.000 236 0% 154 42.2% 37 37.8% benign(0.01) tolerated(0.07) neutral(0.320) HMMPfam_Ctr AKNA 80709 genome.wustl.edu 37 9 117120424 117120424 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030767.4 -1 validated p.S839Y 0.001 84 0% 21 38.1% 5 0% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL ATP6V1G1 9550 genome.wustl.edu 37 9 117354914 117354914 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004888.3 +1 reviewed p.F55L 1.000 233 0% 152 13.2% 330 9% benign(0.197) deleterious(0) neutral(0.463) HMMPfam_V-ATPase_G TNC 3371 genome.wustl.edu 37 9 117804572 117804572 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002160.2 -1 validated p.S1725L 0.758 187 0.5% 51 47.1% 120 53.3% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TNC 3371 genome.wustl.edu 37 9 117808756 117808756 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002160.2 -1 validated p.Y1686 0.971 240 0% 81 44.4% 65 43% - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TNC 3371 genome.wustl.edu 37 9 117808957 117808957 + Silent SNP G G A rs61738265 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002160.2 -1 validated p.A1619 0.077 58 0% 35 48.6% 68 33.8% - - - superfamily_FN_III-like TNC 3371 genome.wustl.edu 37 9 117849088 117849088 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002160.2 -1 validated p.E308K 0.694 115 0% 31 25.8% 68 44.1% possibly_damaging(0.617) tolerated(0.13) neutral(0.467) HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2 PAPPA 5069 genome.wustl.edu 37 9 119097286 119097286 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002581.3 +1 reviewed p.D1182N 1.000 102 0% 18 38.9% 0 - possibly_damaging(0.667) tolerated(0.65) neutral(0.239) superfamily_SSF55486 PAPPA 5069 genome.wustl.edu 37 9 119115117 119115117 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002581.3 +1 reviewed p.K1366T 1.000 150 0% 31 51.6% 0 - possibly_damaging(0.926) tolerated(0.08) deleterious(0.674) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module,superfamily_SSF55486 PAPPA 5069 genome.wustl.edu 37 9 119116043 119116043 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002581.3 +1 reviewed p.I1440V 1.000 475 0% 81 43.2% 0 - benign(0.139) tolerated(0.69) neutral(0.014) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module,superfamily_SSF55486 TRIM32 22954 genome.wustl.edu 37 9 119460636 119460636 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099679.1 +1 reviewed p.F205L 1.000 178 0% 38 42.1% 16 50% benign(0.016) tolerated(1) neutral(0.001) NULL TLR4 7099 genome.wustl.edu 37 9 120474897 120474897 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138554.3 +1 reviewed p.S164Y 0.927 101 0% 34 52.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120475038 120475038 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138554.3 +1 reviewed p.S211Y 0.997 49 0% 21 52.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00369,superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120475111 120475111 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138554.3 +1 reviewed p.N235 0.284 47 0% 21 47.6% 0 - - - - superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120475461 120475461 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138554.3 +1 reviewed p.S352Y 0.883 46 0% 17 35.3% 0 - benign(0.429) tolerated(0.14) neutral(0.389) superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120476051 120476051 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138554.3 +1 reviewed p.L549I 0.002 188 0% 54 13% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) superfamily_L domain-like DBC1 1620 genome.wustl.edu 37 9 121971125 121971125 + Missense_Mutation SNP C C A rs12378280 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014618.2 -1 validated p.Q339H 1.000 346 0% 54 48.1% 0 - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL DBC1 1620 genome.wustl.edu 37 9 121976204 121976204 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014618.2 -1 validated p.E305D 1.000 99 0% 29 34.5% 0 - possibly_damaging(0.892) deleterious(0.02) deleterious(0.734) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123202047 123202047 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018249.4 -1 reviewed p.D1118Y 0.965 582 0% 150 42% 8 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123205992 123205992 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018249.4 -1 reviewed p.Q1018H 0.921 714 0.1% 147 44.9% 10 40% possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123232496 123232496 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018249.4 -1 reviewed p.E621* 1.000 57 0% 48 45.8% 4 0% - - - NULL PHF19 26147 genome.wustl.edu 37 9 123624219 123624219 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015651.1 -1 validated p.L399V 1.000 178 0% 259 49% 4 25% possibly_damaging(0.892) tolerated(0.15) deleterious(0.593) NULL C5 727 genome.wustl.edu 37 9 123797098 123797098 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001735.2 -1 reviewed p.K189N 1.000 149 0% 63 42.9% 1 100% probably_damaging(0.972) tolerated(0.69) neutral(0.416) HMMPfam_A2M_N CNTRL 11064 genome.wustl.edu 37 9 123904441 123904441 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007018.4 +1 reviewed p.N922H 1.000 101 0% 60 51.7% 9 66.6% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL DAB2IP 153090 genome.wustl.edu 37 9 124521214 124521214 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032552.2 +1 validated p.R157Q 1.000 132 0% 76 46.1% 24 54.1% possibly_damaging(0.687) tolerated(0.13) deleterious(0.498) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TTLL11 158135 genome.wustl.edu 37 9 124736405 124736405 + Splice_Site SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001139442.1 -1 validated e6-2 1.000 120 0% 124 37.9% 0 - - - - - TTLL11 158135 genome.wustl.edu 37 9 124751698 124751698 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001139442.1 -1 validated p.I439V 0.988 169 0% 87 50.6% 4 0% benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like OR1J4 26219 genome.wustl.edu 37 9 125281734 125281734 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004452.1 +1 provisional p.I105M 0.000 441 0.2% 149 42.3% 0 - benign(0.429) tolerated(0.39) neutral(0.156) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L1 26737 genome.wustl.edu 37 9 125423907 125423907 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005236.3 +1 validated p.K21N 0.096 155 0.6% 94 34% 0 - possibly_damaging(0.45) - - NULL OR1L1 26737 genome.wustl.edu 37 9 125424272 125424272 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005236.3 +1 validated p.S143Y 0.003 580 0.2% 143 42.7% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_7tm_1,superfamily_SSF81321 OR1L3 26735 genome.wustl.edu 37 9 125437633 125437633 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005234.1 +1 provisional p.T75 0.000 747 0.3% 143 50.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L3 26735 genome.wustl.edu 37 9 125437861 125437861 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005234.1 +1 provisional p.F151L 0.057 567 0% 85 44.7% 0 - benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L4 254973 genome.wustl.edu 37 9 125486471 125486471 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005235.1 +1 provisional p.S68Y 1.000 718 0% 158 35.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 OR1K1 392392 genome.wustl.edu 37 9 125562438 125562438 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080859.1 +1 provisional p.F13L 0.881 233 0% 45 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like RC3H2 54542 genome.wustl.edu 37 9 125621000 125621000 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100588.1 -1 validated p.S744L 1.000 58 0% 59 42.4% 8 62.5% benign(0.006) tolerated(0.15) neutral(0.241) NULL RC3H2 54542 genome.wustl.edu 37 9 125652724 125652724 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100588.1 -1 validated p.R150 1.000 158 0% 79 45.6% 21 47.6% - - - NULL ZBTB6 10773 genome.wustl.edu 37 9 125673961 125673961 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006626.4 -1 provisional p.L131I 0.991 74 1.4% 71 39.4% 3 66.6% benign(0.011) tolerated(0.57) neutral(0.007) NULL ZBTB26 57684 genome.wustl.edu 37 9 125681600 125681600 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020924.2 -1 provisional p.S205Y 1.000 208 0% 152 38.8% 4 50% probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL GPR21 2844 genome.wustl.edu 37 9 125797612 125797612 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005294.1 +1 provisional p.R256Q 1.000 70 0% 30 53.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like STRBP 55342 genome.wustl.edu 37 9 125898412 125898412 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018387.4 -1 validated p.V561L 1.000 224 0% 106 36.8% 124 49.1% unknown(0) deleterious(0) - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like NR6A1 2649 genome.wustl.edu 37 9 127302448 127302448 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033334.2 -1 reviewed p.E154K 1.000 385 0% 96 36.5% 0 - probably_damaging(0.954) tolerated(0.48) neutral(0.408) superfamily_Nuclear receptor ligand-binding domain GOLGA1 2800 genome.wustl.edu 37 9 127644207 127644207 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002077.3 -1 reviewed p.F664 1.000 300 0% 146 43.8% 11 36.3% - - - NULL GOLGA1 2800 genome.wustl.edu 37 9 127685443 127685443 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002077.3 -1 reviewed p.F164L 1.000 249 0% 207 43.5% 7 42.8% possibly_damaging(0.872) deleterious(0.04) deleterious(0.688) NULL GAPVD1 26130 genome.wustl.edu 37 9 128069973 128069973 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015635.2 +1 validated p.N419H 1.000 138 0% 145 44.8% 11 54.5% benign(0.011) tolerated(0.12) neutral(0.261) superfamily_Rho_GAP GAPVD1 26130 genome.wustl.edu 37 9 128112574 128112574 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015635.2 +1 validated p.R1127 1.000 80 0% 64 48.4% 20 65% - - - NULL FAM125B 89853 genome.wustl.edu 37 9 129154354 129154354 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033446.1 +1 validated p.A140D 1.000 105 0% 116 37.1% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2464 GARNL3 84253 genome.wustl.edu 37 9 130098501 130098501 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032293.4 +1 validated p.R323H 1.000 167 0% 64 40.6% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) ZNF79 7633 genome.wustl.edu 37 9 130207254 130207254 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007135.2 +1 validated p.F425L 0.479 137 0% 93 40.9% 3 0% benign(0.076) deleterious(0.01) neutral(0.411) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LRSAM1 90678 genome.wustl.edu 37 9 130224572 130224572 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005373.1 +1 validated p.R150* 0.982 45 0% 69 44.9% 5 20% - - - HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like C9orf117 286207 genome.wustl.edu 37 9 130471896 130471896 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012502.2 +1 predicted p.F119 0.969 29 0% 37 54.1% 10 70% - - - NULL CIZ1 25792 genome.wustl.edu 37 9 130931358 130931358 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001131016.1 -1 validated p.I756 0.005 301 0% 302 39.1% 221 47.9% - - - NULL CIZ1 25792 genome.wustl.edu 37 9 130931406 130931406 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001131016.1 -1 validated p.F740 0.996 275 0% 303 46.9% 225 49.7% - - - NULL NUP188 23511 genome.wustl.edu 37 9 131765201 131765201 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015354.1 +1 validated p.F1415V 1.000 149 0% 59 37.3% 78 47.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ASB6 140459 genome.wustl.edu 37 9 132400454 132400454 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017873.2 -1 reviewed p.A294V 0.109 65 0% 60 50% 26 30.7% benign(0.086) deleterious(0.03) neutral(0.371) NULL TOR1B 27348 genome.wustl.edu 37 9 132566357 132566357 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014506.1 +1 provisional p.K69E 0.019 38 0% 80 47.5% 3 33.3% benign(0.002) tolerated(0.98) - HMMPfam_Torsin,superfamily_SSF52540 FNBP1 23048 genome.wustl.edu 37 9 132740855 132740855 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000449089 -1 known p.T40M 0.368 178 0% 79 48.1% 31 41.9% - - - HMMPfam_FCH NUP214 8021 genome.wustl.edu 37 9 134034776 134034776 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005085.2 +1 reviewed p.R815W 1.000 98 0% 102 50% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NUP214 8021 genome.wustl.edu 37 9 134073002 134073002 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005085.2 +1 reviewed p.F1374C 0.852 124 0% 120 47.5% 16 50% probably_damaging(0.969) deleterious(0) deleterious(0.856) NULL PRRC2B 84726 genome.wustl.edu 37 9 134350019 134350019 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013318.3 +1 validated p.E835* 1.000 53 0% 107 42.1% 21 14.2% - - - NULL SETX 23064 genome.wustl.edu 37 9 135150654 135150654 + Silent SNP G G A rs141497098 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015046.5 -1 reviewed p.F2363 1.000 367 0.5% 374 38.5% 18 44.4% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SETX 23064 genome.wustl.edu 37 9 135153489 135153489 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015046.5 -1 reviewed p.N2270K 0.090 143 0% 63 50.8% 10 30% benign(0.03) tolerated(0.4) neutral(0.018) superfamily_P-loop containing nucleoside triphosphate hydrolases SETX 23064 genome.wustl.edu 37 9 135176146 135176146 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015046.5 -1 reviewed p.E1807K 1.000 257 0% 334 47.9% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SETX 23064 genome.wustl.edu 37 9 135204045 135204045 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015046.5 -1 reviewed p.S980 0.047 281 0% 163 40.5% 7 28.5% - - - NULL SETX 23064 genome.wustl.edu 37 9 135206688 135206688 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015046.5 -1 reviewed p.R329Q 0.395 355 0% 130 45.4% 4 50% benign(0) tolerated(1) - NULL TTF1 7270 genome.wustl.edu 37 9 135277767 135277767 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007344.2 -1 validated p.L148I 0.000 99 0% 140 50% 10 30% benign(0.35) tolerated(0.96) neutral(0.111) NULL DDX31 64794 genome.wustl.edu 37 9 135537701 135537701 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022779.7 -1 reviewed p.E224* 1.000 176 0% 152 48.7% 4 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases GTF3C4 9329 genome.wustl.edu 37 9 135564319 135564319 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012204.2 +1 validated p.S819Y 1.000 149 0% 84 38.1% 16 25% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL AK8 158067 genome.wustl.edu 37 9 135601087 135601087 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152572.2 -1 validated p.K476N 0.019 131 0% 62 38.7% 3 0% benign(0.054) deleterious(0.02) neutral(0.387) NULL AK8 158067 genome.wustl.edu 37 9 135702440 135702440 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152572.2 -1 validated p.E186D 1.000 148 0% 61 29.5% 1 0% benign(0.007) tolerated(0.75) neutral(0.002) "superfamily_Microbial and mitochondrial ADK insert ""zinc finger"" domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" TSC1 7248 genome.wustl.edu 37 9 135771908 135771908 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000368.4 -1 reviewed p.A1070V 0.758 69 0% 53 37.7% 5 40% benign(0.001) tolerated(0.97) - NULL TSC1 7248 genome.wustl.edu 37 9 135778016 135778016 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000368.4 -1 reviewed p.F789 1.000 230 0% 138 39.9% 4 50% - - - NULL TSC1 7248 genome.wustl.edu 37 9 135797259 135797259 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000368.4 -1 reviewed p.R204C 1.000 113 0% 77 45.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hamartin SURF6 6838 genome.wustl.edu 37 9 136199514 136199514 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006753.4 -1 reviewed p.R159Q 0.967 18 0% 19 42.1% 55 40% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_SURF6 SURF6 6838 genome.wustl.edu 37 9 136202907 136202907 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006753.4 -1 reviewed p.H21Q 0.952 20 0.000 9 0.556 23 56.5% benign(0) tolerated(1) - NULL ADAMTS13 11093 genome.wustl.edu 37 9 136310114 136310114 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139025.3 +1 reviewed p.E851* 0.001 13 0% 15 26.7% 0 - - - - NULL DBH 1621 genome.wustl.edu 37 9 136501768 136501768 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000787.3 +1 reviewed p.R92H 0.997 33 0% 19 42.1% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMSmart_DoH,HMMPfam_DOMON SARDH 1757 genome.wustl.edu 37 9 136532010 136532010 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000371868 -1 known p.F276L 0.000 21 0% 20 65% 0 - possibly_damaging(0.767) tolerated(0.83) neutral(0.285) superfamily_SSF101790 BRD3 8019 genome.wustl.edu 37 9 136901247 136901247 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007371.3 -1 reviewed p.E615* 1.000 71 0% 169 38.5% 21 4.7% - - - NULL COL5A1 1289 genome.wustl.edu 37 9 137619235 137619235 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000093.3 +1 reviewed p.D260Y 1.000 89 0% 60 46.7% 6 0% unknown(0) tolerated(0.06) - NULL FCN1 2219 genome.wustl.edu 37 9 137801822 137801822 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002003.3 -1 reviewed p.S268L 0.000 174 0% 176 39.8% 1 0% benign(0.33) tolerated(0.22) neutral(0.145) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FCN1 2219 genome.wustl.edu 37 9 137801885 137801885 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002003.3 -1 reviewed p.S247Y 0.975 129 0% 130 46.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FCN1 2219 genome.wustl.edu 37 9 137809682 137809682 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002003.3 -1 reviewed p.L12 0.000 41 0% 25 44% 2 0% - - - NULL LCN9 392399 genome.wustl.edu 37 9 138557118 138557118 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001676.1 +1 provisional p.S112L 0.004 117 0% 43 37.2% 0 - benign(0.001) tolerated(1) - HMMPfam_Lipocalin,superfamily_Lipocalins KCNT1 57582 genome.wustl.edu 37 9 138641959 138641959 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020822.2 +1 validated p.F90L 1.000 18 0% 42 52.4% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL KCNT1 57582 genome.wustl.edu 37 9 138649176 138649176 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020822.2 +1 validated p.I236 1.000 47 0% 24 45.8% 0 - - - - superfamily_SSF81324 KCNT1 57582 genome.wustl.edu 37 9 138656990 138656990 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020822.2 +1 validated p.I383 0.998 30 0% 89 40.4% 0 - - - - superfamily_SSF81324 CAMSAP1 157922 genome.wustl.edu 37 9 138773530 138773530 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015447.3 -1 validated p.S178 0.007 311 0% 89 38.2% 20 55% - - - NULL TRAF2 7186 genome.wustl.edu 37 9 139794123 139794123 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021138.3 +1 reviewed p.S89L 0.996 127 0% 269 45.7% 21 47.6% possibly_damaging(0.83) tolerated(0.52) neutral(0.324) NULL PTGDS 5730 genome.wustl.edu 37 9 139873680 139873680 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000954.5 +1 reviewed p.N87S 0.545 14 0% 15 26.7% 117 0% benign(0.006) deleterious(0.02) neutral(0.383) HMMPfam_Lipocalin,superfamily_Lipocalins GRIN1 2902 genome.wustl.edu 37 9 140055534 140055534 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007327.3 +1 reviewed p.F408 1.000 6 0.000 23 0.391 0 - - - - superfamily_Periplasmic binding protein-like II PNPLA7 375775 genome.wustl.edu 37 9 140437926 140437926 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098537.1 -1 validated p.S155Y 1.000 16 0% 31 22.6% 0 - benign(0.35) deleterious(0) deleterious(0.555) NULL C9orf37 85026 genome.wustl.edu 37 9 140510398 140510398 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032937.4 -1 reviewed p.A85D 0.000 30 0% 81 33.3% 15 46.6% benign(0.339) - - NULL CACNA1B 774 genome.wustl.edu 37 9 140907683 140907683 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000718.2 +1 validated p.A755T 0.954 41 0% 35 51.4% 0 - probably_damaging(0.965) tolerated(0.39) neutral(0.423) NULL CACNA1B 774 genome.wustl.edu 37 9 140946594 140946594 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000718.2 +1 validated p.R1254H 1.000 135 0% 46 43.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 140953038 140953038 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000718.2 +1 validated p.F1442 0.971 84 0% 57 47.4% 0 - - - - NULL CACNA1B 774 genome.wustl.edu 37 9 140953577 140953577 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000718.2 +1 validated p.N1507S 1.000 210 0% 97 42.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 140972570 140972570 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000718.2 +1 validated p.A1652T 1.000 141 0% 64 46.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels LARP4B 23185 genome.wustl.edu 37 10 875384 875384 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015155.1 -1 provisional p.Y356H 1.000 33 0% 62 35.5% 32 56.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GTPBP4 23560 genome.wustl.edu 37 10 1058589 1058589 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012341.2 +1 reviewed p.R510Q 0.989 57 0% 102 51% 76 43.4% possibly_damaging(0.94) deleterious(0.02) deleterious(0.768) NULL IDI2-AS1 55853 genome.wustl.edu 37 10 1089812 1089812 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_024628.1 +1 validated NULL 0.000 79 0% 109 90.8% 0 - - - - - AKR1C1 1645 genome.wustl.edu 37 10 5008137 5008137 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001353.5 +1 reviewed p.K39T 0.960 149 0% 130 43.1% 7 100% probably_damaging(0.98) deleterious(0.03) deleterious(0.788) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red AKR1C4 1109 genome.wustl.edu 37 10 5238891 5238891 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001818.2 +1 reviewed p.F21V 1.000 299 0% 71 36.6% 0 - possibly_damaging(0.623) deleterious(0) deleterious(0.661) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase AKR1C4 1109 genome.wustl.edu 37 10 5254979 5254979 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001818.2 +1 reviewed p.L235I 0.696 97 0% 41 61% 0 - possibly_damaging(0.446) tolerated(0.1) neutral(0.432) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase FAM208B 54906 genome.wustl.edu 37 10 5791181 5791181 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017782.4 +1 validated p.E1933* 0.065 48 0% 37 35.1% 25 48% - - - NULL ANKRD16 54522 genome.wustl.edu 37 10 5922267 5922267 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009941.2 -1 validated p.R308* 1.000 91 0% 199 39.2% 7 42.8% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FBXO18 84893 genome.wustl.edu 37 10 5957433 5957433 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032807.3 +1 reviewed p.V539 1.000 51 0% 24 33.3% 64 32.8% - - - superfamily_SSF52540 PFKFB3 5209 genome.wustl.edu 37 10 6261579 6261579 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004566.3 +1 validated p.E182 0.978 48 0% 65 43.1% 59 45.7% unknown(0) deleterious(0) - HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases PRKCQ 5588 genome.wustl.edu 37 10 6539184 6539184 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006257.2 -1 reviewed p.R191Q 1.000 160 0% 82 54.9% 4 25% benign(0.001) tolerated(0.78) neutral(0.001) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain PRKCQ 5588 genome.wustl.edu 37 10 6556987 6556987 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006257.2 -1 reviewed p.V37 0.827 122 0% 25 44% 1 100% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ITIH5 80760 genome.wustl.edu 37 10 7684053 7684053 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030569.5 -1 validated p.K46E 1.000 247 0% 84 42.9% 2 0% benign(0.012) tolerated(1) neutral(0.001) HMMSmart_SM00609 ITIH2 3698 genome.wustl.edu 37 10 7768994 7768994 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002216.2 +1 validated p.R356* 0.915 343 0% 124 38.7% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 ITIH2 3698 genome.wustl.edu 37 10 7786854 7786854 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002216.2 +1 validated p.V837I 0.002 205 0% 206 52.4% 1 0% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_ITI_HC_C KIN 22944 genome.wustl.edu 37 10 7801886 7801886 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012311.2 -1 reviewed p.E362 1.000 146 0% 195 49.2% 22 50% - - - NULL ATP5C1 509 genome.wustl.edu 37 10 7839117 7839117 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001973.1 +1 reviewed p.R67* 0.979 150 0% 106 45.3% 154 2.5% - - - HMMPfam_ATP-synt,superfamily_ATP synthase (F1-ATPase) gamma subunit TAF3 83860 genome.wustl.edu 37 10 8006695 8006695 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031923.2 +1 provisional p.E408K 0.992 72 0% 31 29% 5 40% possibly_damaging(0.832) tolerated(0.36) neutral(0.337) NULL GATA3 2625 genome.wustl.edu 37 10 8111487 8111487 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002295.1 +1 reviewed p.T326A 0.998 93 0% 43 41.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GATA,HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) CELF2 10659 genome.wustl.edu 37 10 11308591 11308591 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006561.3 +1 reviewed p.A190V 1.000 412 0% 162 57.4% 9 66.6% benign(0.402) deleterious(0.04) deleterious(0.478) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD UPF2 26019 genome.wustl.edu 37 10 12009405 12009405 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015542.2 -1 reviewed p.R668C 0.999 139 0% 260 43.5% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat UPF2 26019 genome.wustl.edu 37 10 12043816 12043816 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015542.2 -1 reviewed p.E505* 1.000 241 0% 227 41.9% 7 28.5% - - - NULL MCM10 55388 genome.wustl.edu 37 10 13228178 13228178 + Silent SNP C C T rs61755071 byCluster;byFrequency TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182751.2 +1 validated p.I372 0.999 358 0% 164 44.5% 10 50% - - - NULL MCM10 55388 genome.wustl.edu 37 10 13237129 13237129 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182751.2 +1 validated p.E613K 0.849 157 0% 59 44.1% 14 57.1% benign(0.01) tolerated(0.24) neutral(0.038) HMMPfam_Mcm10 BEND7 222389 genome.wustl.edu 37 10 13538805 13538805 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152751.2 -1 validated p.E126K 1.000 114 0% 117 16.2% 8 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM107B 83641 genome.wustl.edu 37 10 14563968 14563968 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031453.2 -1 predicted p.R235I 1.000 837 0% 509 42.4% 68 36.7% possibly_damaging(0.8) deleterious(0) deleterious(0.746) HMMPfam_DUF1151 OLAH 55301 genome.wustl.edu 37 10 15115180 15115180 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018324.2 +1 validated p.K303N 0.209 141 0% 177 43.5% 0 - possibly_damaging(0.898) tolerated(0.48) neutral(0.365) HMMPfam_Thioesterase,superfamily_SSF53474 ITGA8 8516 genome.wustl.edu 37 10 15600156 15600156 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003638.1 -1 provisional p.R895* 0.010 65 0% 44 50% 1 0% - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGA8 8516 genome.wustl.edu 37 10 15639207 15639207 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003638.1 -1 provisional p.N737S 1.000 171 0% 51 49% 0 - probably_damaging(0.991) tolerated(0.91) neutral(0.444) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGA8 8516 genome.wustl.edu 37 10 15730005 15730005 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003638.1 -1 provisional p.E126K 1.000 225 0% 108 43.5% 0 - possibly_damaging(0.822) tolerated(0.39) neutral(0.327) superfamily_SSF69318 FAM188A 80013 genome.wustl.edu 37 10 15883543 15883543 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024948.2 -1 validated p.A97 1.000 245 0% 54 46.3% 21 52.3% - - - NULL CUBN 8029 genome.wustl.edu 37 10 16883020 16883020 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081.3 -1 reviewed p.A3230 0.927 350 0% 92 45.7% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16948330 16948330 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081.3 -1 reviewed p.R2595I 0.996 201 0% 121 33.1% 0 - possibly_damaging(0.931) tolerated(0.07) deleterious(0.697) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17113893 17113893 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081.3 -1 reviewed p.S793 0.000 113 0% 58 39.7% 1 0% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17142157 17142157 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081.3 -1 reviewed p.D538Y 0.994 119 0% 76 39.5% 0 - probably_damaging(0.974) deleterious(0.05) deleterious(0.761) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TRDMT1 1787 genome.wustl.edu 37 10 17191129 17191129 + Missense_Mutation SNP C C A rs144121793 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004412.5 -1 reviewed p.E362D 0.999 105 0% 45 51.1% 4 0% benign(0.109) tolerated(0.31) neutral(0.036) HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases TRDMT1 1787 genome.wustl.edu 37 10 17210904 17210904 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004412.5 -1 reviewed p.E63K 0.819 204 0% 75 49.3% 3 0% benign(0) tolerated(0.62) neutral(0.004) HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases PTPLA 9200 genome.wustl.edu 37 10 17636356 17636356 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014241.3 -1 reviewed p.P211H 1.000 48 0% 56 37.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PTPLA PTPLA 9200 genome.wustl.edu 37 10 17645635 17645635 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014241.3 -1 reviewed p.T136I 1.000 68 0% 137 40.9% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_PTPLA STAM 8027 genome.wustl.edu 37 10 17726863 17726863 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003473.2 +1 reviewed p.K78N 1.000 369 0% 276 46.4% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 MRC1 4360 genome.wustl.edu 37 10 17887340 17887340 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009567.1 +1 reviewed p.K323T 1.000 322 0% 163 38.7% 0 - benign(0.16) tolerated(0.9) neutral(0.015) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 SLC39A12 221074 genome.wustl.edu 37 10 18242119 18242119 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145195.1 +1 validated e1-1 0.955 73 0% 44 47.7% 0 - - - - - SLC39A12 221074 genome.wustl.edu 37 10 18250670 18250670 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145195.1 +1 validated p.K141T 0.000 231 0% 96 36.5% 0 - benign(0) tolerated(0.24) neutral(0.037) NULL CACNB2 783 genome.wustl.edu 37 10 18789740 18789740 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201596.2 +1 reviewed e5-1 1.000 76 0% 35 48.6% 1 100% - - - - NSUN6 221078 genome.wustl.edu 37 10 18885149 18885149 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182543.2 -1 validated p.L255 0.272 368 0% 147 44.2% 5 40% - - - HMMPfam_Nol1_Nop2_Fmu,superfamily_S-adenosyl-L-methionine-dependent methyltransferases NSUN6 221078 genome.wustl.edu 37 10 18940115 18940115 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182543.2 -1 validated p.K6N 0.994 151 0.7% 190 41.1% 9 66.6% benign(0.009) deleterious(0.01) neutral(0.406) NULL PLXDC2 84898 genome.wustl.edu 37 10 20508016 20508016 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032812.7 +1 provisional p.L433I 1.000 267 0% 89 32.6% 5 0% probably_damaging(0.991) tolerated(0.27) deleterious(0.478) NULL NEBL 10529 genome.wustl.edu 37 10 21112217 21112217 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006393.2 -1 reviewed p.E628* 1.000 162 0% 92 38% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEBL 10529 genome.wustl.edu 37 10 21120221 21120221 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006393.2 -1 reviewed p.K525N 0.994 350 0% 96 12.5% 0 - benign(0.247) tolerated(0.16) neutral(0.084) HMMPfam_Nebulin,HMMSmart_SM00227 NEBL 10529 genome.wustl.edu 37 10 21139419 21139419 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006393.2 -1 reviewed p.E341* 1.000 183 0% 109 44% 1 100% - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEBL 10529 genome.wustl.edu 37 10 21169800 21169800 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006393.2 -1 reviewed p.G135* 1.000 164 0% 81 34.6% 0 - - - - HMMPfam_Nebulin C10orf140 387640 genome.wustl.edu 37 10 21804419 21804419 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207371.3 -1 validated p.R778I 1.000 84 0% 286 49.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL MLLT10 8028 genome.wustl.edu 37 10 22024148 22024148 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004641.2 +1 validated p.S996Y 1.000 277 0% 169 46.7% 8 50% benign(0.091) deleterious(0) neutral(0.451) NULL COMMD3 23412 genome.wustl.edu 37 10 22607917 22607917 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000376776 +1 known p.L127* 1.000 54 0% 506 45.5% 255 64.3% - - - HMMPfam_HCaRG ARMC3 219681 genome.wustl.edu 37 10 23321905 23321905 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173081.3 +1 validated p.G788* 1.000 260 0.4% 63 44.4% 2 0% - - - NULL KIAA1217 56243 genome.wustl.edu 37 10 24762299 24762299 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019590.3 +1 validated p.I330T 1.000 89 0% 51 49% 27 48.1% possibly_damaging(0.762) deleterious(0.02) deleterious(0.665) NULL KIAA1217 56243 genome.wustl.edu 37 10 24832924 24832924 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019590.3 +1 validated p.F1575L 1.000 179 0% 60 35% 67 49.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24873608 24873608 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020824.3 -1 validated p.I1870 0.000 323 0% 70 37.1% 70 54.2% - - - NULL ARHGAP21 57584 genome.wustl.edu 37 10 24909791 24909791 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020824.3 -1 validated p.L345V 0.001 430 0% 125 44.8% 5 20% benign(0) tolerated(0.34) neutral(0.023) NULL THNSL1 79896 genome.wustl.edu 37 10 25312581 25312581 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024838.4 +1 validated p.W143* 1.000 118 0% 77 18.2% 8 25% - - - HMMPfam_SKI,superfamily_P-loop containing nucleoside triphosphate hydrolases THNSL1 79896 genome.wustl.edu 37 10 25313208 25313208 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024838.4 +1 validated p.D352E 0.999 147 0% 108 59.3% 6 16.6% possibly_damaging(0.676) deleterious(0) deleterious(0.685) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes GPR158 57512 genome.wustl.edu 37 10 25465117 25465117 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020752.2 +1 validated p.L256 0.000 10 0% 20 45% 0 - - - - NULL GPR158 57512 genome.wustl.edu 37 10 25887409 25887409 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020752.2 +1 validated p.E952* 0.997 50 0% 23 34.8% 0 - - - - NULL GPR158 57512 genome.wustl.edu 37 10 25887683 25887683 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020752.2 +1 validated p.S1043Y 0.009 109 0% 32 46.9% 0 - benign(0.003) tolerated(0.4) neutral(0.016) NULL MYO3A 53904 genome.wustl.edu 37 10 26243932 26243932 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017433.4 +1 reviewed p.L100I 1.000 301 0% 38 52.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO3A 53904 genome.wustl.edu 37 10 26315378 26315378 + Silent SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017433.4 +1 reviewed p.I290 0.199 143 0% 47 48.9% 0 - - - - superfamily_Kinase_like,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26462946 26462946 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017433.4 +1 reviewed p.E1251D 0.033 117 0% 79 36.7% 0 - possibly_damaging(0.69) deleterious(0.03) deleterious(0.611) superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26463180 26463180 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017433.4 +1 reviewed p.E1329D 0.000 194 0% 79 30.4% 0 - benign(0.032) tolerated(0.56) neutral(0.008) superfamily_SSF52540 GAD2 2572 genome.wustl.edu 37 10 26581452 26581452 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000818.2 +1 reviewed p.Y482C 1.000 222 0% 63 42.9% 0 - probably_damaging(0.996) tolerated(0.15) deleterious(0.703) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases ABI1 10006 genome.wustl.edu 37 10 27040684 27040684 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005470.3 -1 validated p.P398 0.985 336 0% 134 51.5% 38 42.1% - - - superfamily_SH3-domain ANKRD26 22852 genome.wustl.edu 37 10 27324294 27324294 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014915.2 -1 validated p.E1029* 0.973 440 0% 225 40.9% 2 50% - - - NULL ANKRD26 22852 genome.wustl.edu 37 10 27324599 27324599 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014915.2 -1 validated p.E927A 1.000 207 0% 213 39% 5 60% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL ANKRD26 22852 genome.wustl.edu 37 10 27328955 27328955 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014915.2 -1 validated p.E772* 0.799 350 0% 353 42.5% 3 33.3% - - - NULL YME1L1 10730 genome.wustl.edu 37 10 27400958 27400958 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139312.1 -1 reviewed p.D757G 1.000 580 0% 313 41.9% 110 83.6% benign(0.206) deleterious(0.03) neutral(0.385) HMMPfam_Peptidase_M41 YME1L1 10730 genome.wustl.edu 37 10 27409412 27409412 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139312.1 -1 reviewed p.R512* 1.000 289 0% 105 41% 56 12.5% - - - HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ACBD5 91452 genome.wustl.edu 37 10 27494176 27494176 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145698.3 -1 validated p.A469E 1.000 130 0% 253 42.7% 23 78.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACBD5 91452 genome.wustl.edu 37 10 27507113 27507113 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145698.3 -1 validated e7-1 0.959 179 0% 142 44.4% 0 - - - - - LOC729549 729549 genome.wustl.edu 37 10 27627834 27627834 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001130590.2 -1 model p.T133 0.000 22 0% 45 26.7% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ARMC4 55130 genome.wustl.edu 37 10 28283880 28283880 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018076.2 -1 validated p.A64 0.000 173 0% 107 43.9% 2 50% - - - NULL SVIL 6840 genome.wustl.edu 37 10 29782171 29782171 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021738.2 -1 reviewed p.D1331N 1.000 145 0% 131 45.8% 19 52.6% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL KIAA1462 57608 genome.wustl.edu 37 10 30318371 30318371 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020848.2 -1 validated p.L236I 1.000 248 0% 199 51.8% 4 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL MTPAP 55149 genome.wustl.edu 37 10 30602794 30602794 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018109.3 -1 validated p.F498C 1.000 128 0% 160 48.1% 26 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_PAP/OAS1 substrate-binding domain MTPAP 55149 genome.wustl.edu 37 10 30630538 30630538 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018109.3 -1 validated p.F63L 0.938 230 0% 149 49.7% 24 41.6% benign(0.094) tolerated(0.27) neutral(0.041) NULL MAP3K8 1326 genome.wustl.edu 37 10 30727958 30727958 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005204.2 +1 reviewed p.E31K 1.000 55 0% 64 31.2% 22 36.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF438 220929 genome.wustl.edu 37 10 31133935 31133935 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143766.1 -1 validated p.V814 0.025 76 0% 59 39% 3 33.3% - - - NULL ZNF438 220929 genome.wustl.edu 37 10 31139056 31139056 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143766.1 -1 validated p.S93Y 1.000 263 0% 174 42.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIF5B 3799 genome.wustl.edu 37 10 32307465 32307465 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004521.2 -1 validated p.A778T 1.000 286 0% 432 42.4% 169 40.2% benign(0.353) tolerated(0.08) neutral(0.411) NULL C10orf68 79741 genome.wustl.edu 37 10 32873208 32873208 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024688.2 +1 validated p.Y7D 0.049 175 0% 185 42.2% 0 - benign(0.212) tolerated(0.23) neutral(0.062) NULL C10orf68 79741 genome.wustl.edu 37 10 32978083 32978083 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024688.2 +1 validated p.R86K 0.000 65 0% 71 45.1% 0 - possibly_damaging(0.94) deleterious(0) deleterious(0.830) NULL NRP1 8829 genome.wustl.edu 37 10 33474632 33474632 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003873.5 -1 validated p.I785 0.972 276 0% 132 37.1% 11 9% - - - HMMPfam_MAM,HMMSmart_SM00137 CUL2 8453 genome.wustl.edu 37 10 35327866 35327866 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003591.2 -1 provisional p.R287* 1.000 262 0% 317 43.5% 11 0% - - - HMMPfam_Cullin,superfamily_Cullin repeat CUL2 8453 genome.wustl.edu 37 10 35333532 35333532 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003591.2 -1 provisional p.L226V 1.000 117 0% 152 32.9% 7 85.7% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Cullin,superfamily_Cullin repeat CREM 1390 genome.wustl.edu 37 10 35467899 35467899 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181571.1 +1 reviewed p.R84Q 1.000 102 0% 124 41.9% 14 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_pKID NAMPTL 646309 genome.wustl.edu 37 10 36812907 36812907 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000440465 -1 known p.L86I 1.000 292 0% 448 42.2% 0 - benign(0.145) tolerated(0.15) neutral(0.254) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37425564 37425564 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052997.2 +1 validated p.R206Q 0.000 39 0% 61 36.1% 0 - benign(0.293) deleterious(0.05) neutral(0.436) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD30A 91074 genome.wustl.edu 37 10 37454050 37454050 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052997.2 +1 validated p.Q621H 0.000 199 0% 344 42.7% 0 - benign(0.253) deleterious(0) deleterious(0.471) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37478464 37478464 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052997.2 +1 validated p.K775Q 0.001 75 0% 120 17.5% 0 - possibly_damaging(0.45) tolerated(0.49) neutral(0.158) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37505267 37505267 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052997.2 +1 validated p.K954Q 0.302 110 0% 23 47.8% 0 - possibly_damaging(0.45) deleterious(0) deleterious(0.592) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37505305 37505305 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052997.2 +1 validated p.Q966H 0.022 102 0% 20 50% 0 - benign(0.253) tolerated(0.16) neutral(0.085) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37506774 37506774 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052997.2 +1 validated p.E1023* 0.012 66 0% 19 31.6% 0 - - - - NULL LOC646360 646360 genome.wustl.edu 37 10 37626786 37626786 + RNA SNP G G A rs144068387 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_078419.1 +1 model NULL 1.000 146 0.7% 127 48.8% 0 - - - - - ZNF33A 7581 genome.wustl.edu 37 10 38343768 38343768 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006954.1 +1 validated p.R239K 0.000 129 0% 52 40.4% 19 42.1% possibly_damaging(0.601) tolerated(0.73) neutral(0.209) NULL LOC340947 340947 genome.wustl.edu 37 10 38369445 38369445 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001131609.2 -1 model p.L164F 1.000 77 0% 44 43.2% 0 - - - - HMMPfam_Paf67 ZNF37A 7587 genome.wustl.edu 37 10 38406317 38406317 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007094.2 +1 validated e4-1 0.998 32 0% 30 50% 0 - - - - - ZNF33B 7582 genome.wustl.edu 37 10 43089016 43089016 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006955.1 -1 provisional p.R461I 1.000 181 0% 80 48.7% 12 41.6% probably_damaging(0.999) tolerated(0.25) deleterious(0.527) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RET 5979 genome.wustl.edu 37 10 43612056 43612056 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020975.4 +1 reviewed p.R721W 1.000 93 0% 194 40.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like RASGEF1A 221002 genome.wustl.edu 37 10 43691959 43691959 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145313.2 -1 validated p.E462D 0.997 103 0% 89 53.9% 0 - benign(0.033) tolerated(0.19) neutral(0.051) HMMSmart_SM00147,superfamily_Ras GEF ZNF485 220992 genome.wustl.edu 37 10 44111783 44111783 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145312.3 +1 validated p.S98R 0.000 52 0% 78 19.2% 6 33.3% benign(0.044) deleterious(0.05) neutral(0.348) NULL ZNF485 220992 genome.wustl.edu 37 10 44112276 44112276 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145312.3 +1 validated p.R262I 0.997 112 0% 193 40.9% 6 66.6% probably_damaging(0.959) tolerated(0.09) deleterious(0.699) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF485 220992 genome.wustl.edu 37 10 44112612 44112612 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145312.3 +1 validated p.R374I 0.999 69 0% 96 42.7% 7 42.8% benign(0.195) tolerated(0.05) neutral(0.364) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ALOX5 240 genome.wustl.edu 37 10 45935921 45935921 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000698.2 +1 reviewed p.S342L 1.000 120 0% 63 49.2% 2 0% benign(0.129) deleterious(0) neutral(0.456) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ZFAND4 93550 genome.wustl.edu 37 10 46121779 46121779 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128324.1 -1 validated p.E498* 0.998 91 0% 62 40.3% 2 50% - - - NULL GDF10 2662 genome.wustl.edu 37 10 48426629 48426629 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004962.2 -1 reviewed p.R460W 1.000 52 0% 47 36.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines FAM25C 644054 genome.wustl.edu 37 10 49205729 49205729 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137548.1 -1 validated p.K40E 0.022 63 0% 60 46.7% 0 - unknown(0) deleterious(0) - NULL FRMPD2 143162 genome.wustl.edu 37 10 49409285 49409285 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001018071.3 -1 reviewed p.S647F 0.000 123 0% 36 38.9% 0 - benign(0.267) deleterious(0) deleterious(0.473) superfamily_PH domain-like FRMPD2 143162 genome.wustl.edu 37 10 49431308 49431308 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001018071.3 -1 reviewed p.E392* 1.000 177 0% 21 47.6% 0 - - - - HMMPfam_FERM_N,HMMSmart_SM00295,superfamily_Ubiquitin-like WDFY4 57705 genome.wustl.edu 37 10 49917925 49917925 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020945.1 +1 validated p.K50E 1.000 125 0% 55 43.6% 0 - benign(0.253) tolerated(0.11) neutral(0.298) NULL WDFY4 57705 genome.wustl.edu 37 10 49931503 49931503 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020945.1 +1 validated p.S161Y 0.684 118 0% 81 39.5% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL WDFY4 57705 genome.wustl.edu 37 10 49944168 49944168 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000360890 +1 known p.R644Q 0.000 24 0.000 9 0.444 0 - unknown(0) - - NULL WDFY4 57705 genome.wustl.edu 37 10 50028406 50028406 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020945.1 +1 validated p.T1878M 0.000 30 0% 17 52.9% 0 - benign(0) tolerated(0.52) neutral(0.009) NULL WDFY4 57705 genome.wustl.edu 37 10 50081658 50081658 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000312002 +1 known p.R1379* 0.747 72 0% 23 43.5% 0 - - - - NULL VSTM4 196740 genome.wustl.edu 37 10 50255061 50255061 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031746.3 -1 validated p.P268 0.998 789 0% 153 50.3% 1 0% - - - NULL FAM170B 170370 genome.wustl.edu 37 10 50340047 50340047 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000311787 -1 known p.E155K 0.994 80 0% 30 20% 0 - probably_damaging(0.978) deleterious(0.05) deleterious(0.766) NULL C10orf71 118461 genome.wustl.edu 37 10 50531154 50531154 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135196.1 +1 validated p.F188 0.431 77 0% 40 55% 0 - - - - NULL C10orf71 118461 genome.wustl.edu 37 10 50531867 50531867 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135196.1 +1 validated p.A426V 0.003 249 0% 131 12.2% 1 0% benign(0.004) tolerated(0.92) - NULL ERCC6 2074 genome.wustl.edu 37 10 50678746 50678746 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000124.2 -1 reviewed p.R1087Q 0.000 471 0% 138 43.5% 3 66.6% benign(0) tolerated(0.67) neutral(0.003) NULL PGBD3 267004 genome.wustl.edu 37 10 50724704 50724704 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170753.2 -1 validated p.E153K 0.096 154 0% 94 44.7% 4 75% benign(0.003) tolerated(0.25) neutral(0.037) NULL PARG 8505 genome.wustl.edu 37 10 51065370 51065370 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003631.2 -1 reviewed p.E779* 1.000 337 0.3% 117 40.2% 4 0% - - - HMMPfam_PARG_cat AGAP6 414189 genome.wustl.edu 37 10 51769291 51769291 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077665.2 +1 validated p.S469L 1.000 79 0% 85 28.2% 9 22.2% benign(0.011) tolerated(0.2) neutral(0.050) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain AGAP6 414189 genome.wustl.edu 37 10 51769553 51769553 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077665.2 +1 validated p.E556D 0.971 293 0% 222 33.3% 12 41.6% benign(0.003) tolerated(0.26) neutral(0.034) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain,superfamily_Ankyrin repeat A1CF 29974 genome.wustl.edu 37 10 52570798 52570798 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138932.1 -1 reviewed e9+2 0.998 129 0% 30 40% 0 - - - - - PRKG1 5592 genome.wustl.edu 37 10 54031162 54031162 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006258.2 +1 validated p.K409T 1.000 120 0% 20 65% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MBL2 4153 genome.wustl.edu 37 10 54530432 54530432 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000242.2 -1 reviewed p.P101L 0.000 92 0% 31 54.8% 0 - benign(0.158) tolerated(0.54) neutral(0.021) NULL PCDH15 65217 genome.wustl.edu 37 10 55566598 55566598 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142771.1 -1 reviewed p.S1597* 0.455 357 0% 72 36.1% 0 - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55581854 55581854 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142763.1 -1 reviewed p.E1885* 0.970 351 0% 202 44.1% 0 - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55582637 55582637 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142763.1 -1 reviewed p.N1624H 0.001 275 0% 114 41.2% 0 - benign(0.372) deleterious(0.04) neutral(0.467) NULL PCDH15 65217 genome.wustl.edu 37 10 55663054 55663054 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142763.1 -1 reviewed p.I1155 0.999 137 0% 98 32.7% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDH15 65217 genome.wustl.edu 37 10 55721535 55721535 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142763.1 -1 reviewed p.E1001* 1.000 117 0% 99 40.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAM13C 220965 genome.wustl.edu 37 10 61007451 61007451 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143773.1 -1 validated p.E478* 1.000 320 0.6% 126 34.1% 1 0% - - - NULL ANK3 288 genome.wustl.edu 37 10 61832066 61832066 + Missense_Mutation SNP G G A rs78194762 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020987.2 -1 reviewed p.S2858L 1.000 47 0% 37 48.6% 1 0% benign(0.372) - - NULL ANK3 288 genome.wustl.edu 37 10 61832290 61832290 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020987.2 -1 reviewed p.D2783E 0.106 127 0% 74 47.3% 0 - benign(0) - - NULL ANK3 288 genome.wustl.edu 37 10 61865693 61865693 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020987.2 -1 reviewed p.L1100V 0.999 192 0% 87 47.1% 14 57.1% probably_damaging(0.983) tolerated(0.29) neutral(0.458) NULL CDK1 983 genome.wustl.edu 37 10 62544573 62544573 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001786.4 +1 reviewed p.R50W 1.000 113 0% 88 52.3% 113 47.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RHOBTB1 9886 genome.wustl.edu 37 10 62631205 62631205 + RNA SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_024555.1 -1 reviewed NULL 0.003 114 0% 71 42.3% 3 0% - - - - JMJD1C 221037 genome.wustl.edu 37 10 64973852 64973852 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032776.1 -1 validated p.R692Q 1.000 227 0% 138 45.7% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTNNA3 29119 genome.wustl.edu 37 10 67829209 67829209 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127384.1 -1 validated p.K672N 1.000 281 0% 34 52.9% 1 100% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin LRRTM3 347731 genome.wustl.edu 37 10 68686916 68686916 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178011.3 +1 validated p.F81C 1.000 150 0% 92 17.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like LRRTM3 347731 genome.wustl.edu 37 10 68687573 68687573 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178011.3 +1 validated p.S300Y 1.000 66 0% 56 48.2% 0 - possibly_damaging(0.637) deleterious(0.02) deleterious(0.606) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LRRTM3 347731 genome.wustl.edu 37 10 68688050 68688050 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178011.3 +1 validated p.R459Q 1.000 111 0.9% 36 47.2% 0 - possibly_damaging(0.859) tolerated(0.75) neutral(0.334) NULL HERC4 26091 genome.wustl.edu 37 10 69716666 69716666 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022079.2 -1 validated p.L673R 1.000 200 0% 166 46.4% 17 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HERC4 26091 genome.wustl.edu 37 10 69793731 69793731 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022079.2 -1 validated p.D226Y 1.000 101 0% 54 38.9% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RCC1,superfamily_RCC1/BLIP-II RUFY2 55680 genome.wustl.edu 37 10 70161481 70161481 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017987.4 -1 validated p.F99L 1.000 78 0% 164 40.2% 2 50% possibly_damaging(0.775) tolerated(0.76) neutral(0.289) HMMPfam_RUN DNA2 1763 genome.wustl.edu 37 10 70192185 70192185 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080449.1 -1 provisional p.N663H 1.000 96 0% 148 43.2% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TET1 80312 genome.wustl.edu 37 10 70332949 70332949 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030625.2 +1 validated p.S285Y 0.871 44 0% 57 45.6% 0 - benign(0.256) deleterious(0.03) neutral(0.391) NULL TET1 80312 genome.wustl.edu 37 10 70360773 70360773 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030625.2 +1 validated p.K650N 1.000 78 0% 256 41.4% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TET1 80312 genome.wustl.edu 37 10 70450571 70450571 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030625.2 +1 validated p.N1804S 0.932 120 0% 98 42.9% 7 42.8% benign(0) tolerated(0.29) neutral(0.029) NULL STOX1 219736 genome.wustl.edu 37 10 70645557 70645557 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130161.2 +1 reviewed p.L669I 1.000 128 0% 153 39.2% 4 50% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL DDX50 79009 genome.wustl.edu 37 10 70673159 70673159 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024045.1 +1 reviewed p.R257Q 1.000 356 0% 177 42.9% 34 52.9% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA1279 26128 genome.wustl.edu 37 10 70775338 70775338 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015634.3 +1 reviewed p.L344 0.290 87 0% 123 45.5% 34 52.9% - - - NULL ADAMTS14 140766 genome.wustl.edu 37 10 72462167 72462167 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139155.2 +1 reviewed p.R208C 1.000 84 0% 30 30% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAMTS14 140766 genome.wustl.edu 37 10 72511870 72511870 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139155.2 +1 reviewed p.Y875 0.963 24 0% 10 80% 0 - - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 SLC29A3 55315 genome.wustl.edu 37 10 73082516 73082516 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000373189 +1 known p.A2V 0.992 58 0% 53 49.1% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CHST3 9469 genome.wustl.edu 37 10 73765714 73765714 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004273.4 +1 reviewed p.I38 0.982 132 0% 296 41.2% 4 50% - - - NULL ASCC1 51008 genome.wustl.edu 37 10 73921391 73921391 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015947.2 -1 validated p.K177N 1.000 207 0% 243 42.8% 31 61.2% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL TTC18 118491 genome.wustl.edu 37 10 75038024 75038024 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145170.3 -1 validated p.E841* 0.842 267 0% 463 52.1% 0 - - - - superfamily_TPR-like TTC18 118491 genome.wustl.edu 37 10 75051169 75051169 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145170.3 -1 validated p.R755Q 1.000 483 0% 157 38.9% 0 - possibly_damaging(0.67) tolerated(0.58) neutral(0.242) HMMSmart_SM00028,superfamily_TPR-like PPP3CB 5532 genome.wustl.edu 37 10 75198174 75198174 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142353.1 -1 validated p.I468M 1.000 221 0% 83 39.8% 31 48.3% benign(0.046) tolerated(0.22) neutral(0.045) superfamily_SSF56300 PPP3CB 5532 genome.wustl.edu 37 10 75230678 75230678 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142353.1 -1 validated p.S285L 1.000 119 0.8% 117 18.8% 19 15.7% possibly_damaging(0.951) tolerated(0.13) deleterious(0.647) HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 SEC24C 9632 genome.wustl.edu 37 10 75529411 75529411 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004922.2 +1 reviewed p.R868C 1.000 95 0% 59 44.1% 116 48.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec23_helical,superfamily_Helical domain of Sec23/24 VCL 7414 genome.wustl.edu 37 10 75868840 75868840 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014000.2 +1 reviewed p.G891R 1.000 96 0% 27 33.3% 47 40.4% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin ENSG00000250779 0 genome.wustl.edu 37 10 75871501 75871501 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000506015 -1 novel NULL 0.071 13 0% 15 73.3% 0 - - - - - KAT6B 23522 genome.wustl.edu 37 10 76735881 76735881 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012330.2 +1 validated p.R596W 1.000 87 0% 28 39.3% 4 50% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL KCNMA1 3778 genome.wustl.edu 37 10 78844419 78844419 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014797.2 -1 reviewed p.A500V 1.000 60 0% 30 53.3% 8 62.5% possibly_damaging(0.626) deleterious(0.01) deleterious(0.624) superfamily_NAD(P)-binding Rossmann-fold domains DLG5 9231 genome.wustl.edu 37 10 79555860 79555860 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004747.3 -1 reviewed p.D1799N 1.000 58 0% 51 47.1% 78 51.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases DLG5 9231 genome.wustl.edu 37 10 79576397 79576397 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004747.3 -1 reviewed p.S1313P 1.000 214 0% 88 11.4% 38 7.8% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL POLR3A 11128 genome.wustl.edu 37 10 79743722 79743722 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007055.3 -1 validated p.L1129F 1.000 78 0% 79 38% 13 38.4% probably_damaging(0.961) tolerated(0.05) deleterious(0.750) HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 SFTPA2 729238 genome.wustl.edu 37 10 81316968 81316968 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098668.2 -1 reviewed p.F248L 0.995 231 0% 64 37.5% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Lectin_C,superfamily_C-type lectin-like SFTPA2 729238 genome.wustl.edu 37 10 81317181 81317181 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098668.2 -1 reviewed p.F177 0.259 291 0% 89 39.3% 1 0% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like TSPAN14 81619 genome.wustl.edu 37 10 82273803 82273803 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030927.2 +1 validated p.Y202C 1.000 226 0% 185 40.5% 60 51.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Tetraspanin,HMMPfam_Tetraspannin SH2D4B 387694 genome.wustl.edu 37 10 82330002 82330002 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207372.2 +1 validated p.E93K 0.997 129 0% 54 50% 0 - benign(0.4) tolerated(0.07) neutral(0.448) NULL NRG3 10718 genome.wustl.edu 37 10 83926577 83926577 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000404576 +1 known p.K52T 0.000 371 0% 87 44.8% 0 - benign(0.139) deleterious(0.02) neutral(0.395) NULL NRG3 10718 genome.wustl.edu 37 10 84733656 84733656 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010848.3 +1 reviewed p.S466Y 0.945 120 0% 37 48.6% 0 - possibly_damaging(0.63) deleterious(0.01) deleterious(0.626) NULL GHITM 27069 genome.wustl.edu 37 10 85904701 85904701 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014394.2 +1 validated p.T138A 1.000 180 0% 166 38.6% 21 33.3% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_UPF0005 CDHR1 92211 genome.wustl.edu 37 10 85970880 85970880 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033100.2 +1 reviewed p.P482S 1.000 73 0% 41 58.5% 1 0% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_Cadherin,superfamily_Cadherin-like GRID1 2894 genome.wustl.edu 37 10 87898578 87898578 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017551.2 -1 reviewed p.E242K 0.997 120 0% 25 24% 0 - benign(0.023) tolerated(0.09) neutral(0.297) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I WAPAL 23063 genome.wustl.edu 37 10 88206017 88206017 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015045.2 -1 validated p.E1102* 1.000 132 0% 191 44% 72 11.1% - - - superfamily_ARM repeat WAPAL 23063 genome.wustl.edu 37 10 88277343 88277343 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015045.2 -1 validated p.K162Q 0.900 73 0% 196 40.8% 12 16.6% benign(0.429) tolerated(0.18) neutral(0.196) NULL MMRN2 79812 genome.wustl.edu 37 10 88705408 88705408 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024756.2 -1 validated p.L68S 0.198 28 0% 31 35.5% 6 0% benign(0.305) tolerated(0.35) neutral(0.116) HMMPfam_EMI GLUD1 2746 genome.wustl.edu 37 10 88854189 88854189 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005271.3 -1 reviewed p.N113I 1.000 21 0% 20 35% 33 36.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_ELFV_dehydrog_N,superfamily_SSF53223 PAPSS2 9060 genome.wustl.edu 37 10 89501052 89501052 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001015880.1 +1 reviewed p.R383 0.001 229 0% 105 50.5% 3 0% - - - HMMPfam_ATP-sulfurylase,superfamily_PUA-like ATAD1 84896 genome.wustl.edu 37 10 89516630 89516630 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032810.2 -1 provisional p.F294C 1.000 98 0% 61 44.3% 47 34% benign(0.199) deleterious(0.03) neutral(0.384) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000371953 +1 known p.R130Q 1.000 284 0% 84 39.3% 99 52.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692940 89692940 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000371953 +1 known p.R142W 1.000 223 0% 64 37.5% 74 40.5% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720658 89720658 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000371953 +1 known p.M270T 1.000 116 0% 42 42.9% 64 50% possibly_damaging(0.9) deleterious(0.03) deleterious(0.721) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 LIPJ 142910 genome.wustl.edu 37 10 90365396 90365396 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010939.2 +1 validated p.N268H 0.029 341 0% 93 47.3% 1 100% benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases LIPF 8513 genome.wustl.edu 37 10 90438413 90438413 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004190.2 +1 reviewed p.S391Y 0.000 117 0% 47 38.3% 0 - benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases ACTA2 59 genome.wustl.edu 37 10 90697964 90697964 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001141945.1 -1 reviewed p.N282D 1.000 337 0% 66 57.6% 116 0.8% benign(0.004) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain IFIT1 3434 genome.wustl.edu 37 10 91162829 91162829 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001548.3 +1 validated p.S266F 0.000 77 0% 39 48.7% 5 20% possibly_damaging(0.753) deleterious(0.04) deleterious(0.625) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like KIF20B 9585 genome.wustl.edu 37 10 91468936 91468936 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016195.2 +1 validated p.E54K 0.999 33 0% 60 48.3% 0 - benign(0.066) tolerated(0.38) neutral(0.022) superfamily_P-loop containing nucleoside triphosphate hydrolases KIF20B 9585 genome.wustl.edu 37 10 91497726 91497726 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016195.2 +1 validated p.R1003Q 0.000 44 0% 38 34.2% 3 0% benign(0) tolerated(0.34) neutral(0.023) NULL KIF20B 9585 genome.wustl.edu 37 10 91514307 91514307 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016195.2 +1 validated p.K1420N 0.997 114 0% 77 45.5% 4 50% benign(0.296) deleterious(0) deleterious(0.536) NULL KIF20B 9585 genome.wustl.edu 37 10 91514366 91514366 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016195.2 +1 validated p.R1440Q 0.997 119 0% 81 39.5% 9 22.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PPP1R3C 5507 genome.wustl.edu 37 10 93390192 93390192 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005398.4 -1 provisional p.R149Q 1.000 173 0% 80 40% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BTAF1 9044 genome.wustl.edu 37 10 93748947 93748947 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003972.2 +1 validated p.D822N 0.081 75 0% 56 42.9% 7 42.8% benign(0) tolerated(0.52) neutral(0.009) superfamily_ARM repeat KIF11 3832 genome.wustl.edu 37 10 94388625 94388625 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004523.3 +1 reviewed p.I426M 0.053 117 0% 172 38.4% 41 43.9% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL EXOC6 54536 genome.wustl.edu 37 10 94675593 94675593 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019053.4 +1 reviewed p.R248C 0.003 89 0% 91 33% 9 33.3% benign(0.003) tolerated(0.18) neutral(0.056) NULL CYP26A1 1592 genome.wustl.edu 37 10 94834787 94834787 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000783.3 +1 reviewed p.F222L 1.000 7 0.000 12 0.500 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_p450,superfamily_Cytochrome_P450 MYOF 26509 genome.wustl.edu 37 10 95111509 95111509 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013451.3 -1 reviewed p.F1192L 0.982 335 0% 216 49.5% 16 37.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CEP55 55165 genome.wustl.edu 37 10 95276942 95276942 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127182.1 +1 validated p.E310D 1.000 100 0% 108 37% 43 51.1% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL O3FAR1 338557 genome.wustl.edu 37 10 95335856 95335856 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181745.2 +1 validated p.S192 0.000 453 0% 270 15.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like O3FAR1 338557 genome.wustl.edu 37 10 95347104 95347104 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181745.2 +1 validated p.I291N 1.000 223 0% 158 42.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PDE6C 5146 genome.wustl.edu 37 10 95400676 95400676 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006204.3 +1 reviewed e14-1 1.000 135 0% 47 55.3% 0 - - - - - PDE6C 5146 genome.wustl.edu 37 10 95418757 95418757 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006204.3 +1 reviewed p.E712D 1.000 147 0% 86 38.4% 0 - probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 LGI1 9211 genome.wustl.edu 37 10 95557487 95557487 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005097.2 +1 reviewed p.N534T 1.000 47 0% 33 33.3% 0 - benign(0.005) tolerated(0.15) neutral(0.241) HMMPfam_EPTP PLCE1 51196 genome.wustl.edu 37 10 95791125 95791125 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016341.3 +1 reviewed p.N108H 0.261 88 0% 21 42.9% 2 50% benign(0.163) deleterious(0) neutral(0.459) NULL PLCE1 51196 genome.wustl.edu 37 10 96018830 96018830 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016341.3 +1 reviewed p.R1246Q 1.000 384 0% 94 48.9% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_EF-hand PLCE1 51196 genome.wustl.edu 37 10 96033369 96033369 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016341.3 +1 reviewed p.F1519L 1.000 90 0% 46 43.5% 3 33.3% probably_damaging(0.971) tolerated(0.16) deleterious(0.472) HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases PLCE1 51196 genome.wustl.edu 37 10 96053396 96053396 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016341.3 +1 reviewed p.S1723R 1.000 55 0% 39 43.6% 3 66.6% possibly_damaging(0.704) tolerated(0.55) neutral(0.261) superfamily_PLC-like phosphodiesterases PLCE1 51196 genome.wustl.edu 37 10 96084684 96084684 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016341.3 +1 reviewed p.F2252 1.000 85 0% 77 42.9% 7 28.5% - - - NULL NOC3L 64318 genome.wustl.edu 37 10 96106269 96106269 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022451.9 -1 provisional p.V434 1.000 212 0% 241 39.4% 12 33.3% - - - NULL TBC1D12 23232 genome.wustl.edu 37 10 96290979 96290979 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015188.1 +1 validated p.K674T 1.000 185 0% 189 42.3% 2 50% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC HELLS 3070 genome.wustl.edu 37 10 96356854 96356854 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018063.3 +1 reviewed p.R803Q 1.000 265 0% 160 43.8% 23 34.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYP2C19 1557 genome.wustl.edu 37 10 96541618 96541618 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000769.1 +1 reviewed p.G228V 0.867 98 0% 48 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2C19 1557 genome.wustl.edu 37 10 96580279 96580279 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000769.1 +1 reviewed p.F282L 0.083 277 0% 134 40.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_p450,superfamily_Cytochrome_P450 PDLIM1 9124 genome.wustl.edu 37 10 96998378 96998378 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020992.2 -1 provisional p.S250 0.007 270 0% 117 41.9% 247 55.4% - - - NULL TCTN3 26123 genome.wustl.edu 37 10 97444363 97444363 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015631.5 -1 validated p.T330A 1.000 93 0% 110 50% 59 49.1% possibly_damaging(0.95) tolerated(0.56) neutral(0.400) HMMPfam_DUF1619 ZNF518A 9849 genome.wustl.edu 37 10 97916763 97916763 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000371192 +1 known p.R228 1.000 117 0% 45 11.1% 1 100% - - - HMMSmart_SM00355 ZNF518A 9849 genome.wustl.edu 37 10 97919842 97919842 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000371192 +1 known p.F1255I 0.022 13 0% 23 60.9% 5 60% - - - NULL PIK3AP1 118788 genome.wustl.edu 37 10 98411319 98411319 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152309.2 -1 validated p.E268* 1.000 192 0% 177 44.6% 1 0% - - - NULL C10orf12 26148 genome.wustl.edu 37 10 98742682 98742682 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015652.2 +1 predicted p.S512L 0.767 37 0% 39 43.6% 2 100% benign(0) deleterious(0) neutral(0.445) NULL C10orf12 26148 genome.wustl.edu 37 10 98744749 98744749 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015652.2 +1 predicted p.T1201M 0.000 66 0% 40 25% 1 0% possibly_damaging(0.742) deleterious(0) deleterious(0.717) NULL SLIT1 6585 genome.wustl.edu 37 10 98817003 98817003 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003061.2 -1 validated p.R374H 1.000 92 0% 120 43.3% 0 - benign(0.001) tolerated(0.1) neutral(0.286) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SLIT1 6585 genome.wustl.edu 37 10 98824583 98824583 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003061.2 -1 validated p.A179V 1.000 262 0% 87 48.3% 0 - possibly_damaging(0.819) deleterious(0.02) deleterious(0.693) HMMSmart_SM00369,superfamily_L domain-like ARHGAP19 84986 genome.wustl.edu 37 10 98988842 98988842 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000316676 -1 known e12-2 0.001 180 0% 134 43.3% 0 - - - - - ARHGAP19 84986 genome.wustl.edu 37 10 98989535 98989535 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032900.4 -1 validated p.E461* 1.000 236 0% 240 42.5% 1 0% - - - NULL ARHGAP19 84986 genome.wustl.edu 37 10 99023270 99023270 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032900.4 -1 validated p.N174H 1.000 108 0% 98 36.7% 3 66.6% benign(0.38) tolerated(1) neutral(0.121) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP19 84986 genome.wustl.edu 37 10 99024582 99024582 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032900.4 -1 validated e3+1 1.000 117 0% 102 39.2% 0 - - - - - C10orf28 27291 genome.wustl.edu 37 10 99969100 99969100 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014472.4 +1 validated p.R410Q 0.000 242 0% 56 42.9% 12 58.3% benign(0.117) tolerated(0.19) neutral(0.059) NULL HPS1 3257 genome.wustl.edu 37 10 100202989 100202989 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000195.2 -1 reviewed p.C3 0.090 256 0% 75 40% 76 53.9% - - - NULL CNNM1 26507 genome.wustl.edu 37 10 101124759 101124759 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020348.2 +1 validated p.L726 1.000 444 0% 129 45.7% 0 - - - - NULL ABCC2 1244 genome.wustl.edu 37 10 101578879 101578879 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000392.3 +1 reviewed p.L825I 1.000 156 0% 111 45% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC2 1244 genome.wustl.edu 37 10 101611295 101611295 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000392.3 +1 reviewed p.C1515 0.997 66 0% 88 47.7% 1 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CPN1 1369 genome.wustl.edu 37 10 101808527 101808527 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001308.2 -1 reviewed p.A406 0.013 137 0% 27 48.1% 1 0% - - - HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain CHUK 1147 genome.wustl.edu 37 10 101969509 101969509 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001278.3 -1 reviewed p.I324S 1.000 115 0% 117 45.3% 15 60% benign(0.045) tolerated(0.12) neutral(0.263) superfamily_Protein kinase-like (PK-like) CHUK 1147 genome.wustl.edu 37 10 101978531 101978531 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001278.3 -1 reviewed p.E247D 1.000 264 0% 148 48% 19 42.1% benign(0.001) tolerated(1) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HIF1AN 55662 genome.wustl.edu 37 10 102296380 102296380 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017902.2 +1 validated p.E130 1.000 72 0% 109 47.7% 26 53.8% - - - superfamily_SSF51197 HIF1AN 55662 genome.wustl.edu 37 10 102306916 102306916 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017902.2 +1 validated p.R305I 1.000 77 0% 67 47.8% 19 36.8% benign(0.03) deleterious(0.05) neutral(0.347) HMMSmart_JmjC,superfamily_SSF51197 SFXN3 81855 genome.wustl.edu 37 10 102794502 102794502 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030971.3 +1 validated p.Q21H 0.998 177 0% 82 51.2% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mtc SFXN3 81855 genome.wustl.edu 37 10 102794572 102794572 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030971.3 +1 validated p.A45T 0.002 154 0% 68 58.8% 11 9% benign(0.004) tolerated(0.55) neutral(0.007) HMMPfam_Mtc TLX1NB 100038246 genome.wustl.edu 37 10 102849469 102849469 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001085398.1 -1 validated p.S65Y 0.002 27 0% 19 31.6% 0 - - - - NULL PPRC1 23082 genome.wustl.edu 37 10 103899864 103899864 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015062.3 +1 reviewed p.E533D 0.080 64 0% 46 45.7% 19 73.6% possibly_damaging(0.868) deleterious(0.02) deleterious(0.720) NULL ELOVL3 83401 genome.wustl.edu 37 10 103986353 103986353 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152310.1 +1 provisional p.Q16 0.991 104 0% 81 14.8% 0 - - - - NULL ELOVL3 83401 genome.wustl.edu 37 10 103988319 103988319 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152310.1 +1 provisional p.E127* 1.000 69 0% 143 43.4% 0 - - - - HMMPfam_ELO TMEM180 79847 genome.wustl.edu 37 10 104229791 104229791 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024789.3 +1 validated p.F70 1.000 176 0% 84 35.7% 1 100% - - - superfamily_MFS_gen_substrate_transporter C10orf26 54838 genome.wustl.edu 37 10 104572759 104572759 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083913.1 +1 validated p.D255N 1.000 19 0% 25 36% 36 38.8% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL INA 9118 genome.wustl.edu 37 10 105037956 105037956 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032727.3 +1 reviewed p.R330C 1.000 11 0.000 9 0.444 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament PDCD11 22984 genome.wustl.edu 37 10 105158283 105158283 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014976.1 +1 validated p.D34Y 1.000 100 0% 130 46.9% 5 40% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SH3PXD2A 9644 genome.wustl.edu 37 10 105420802 105420802 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000420222 -1 known p.E136* 1.000 50 0% 58 51.7% 7 71.4% probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain SLK 9748 genome.wustl.edu 37 10 105761326 105761326 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014720.2 +1 provisional p.S330Y 1.000 103 0% 82 41.5% 28 53.5% possibly_damaging(0.688) deleterious(0.04) deleterious(0.595) superfamily_Protein kinase-like (PK-like) SLK 9748 genome.wustl.edu 37 10 105762077 105762077 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014720.2 +1 provisional p.L381I 0.012 52 0% 60 41.7% 11 45.4% benign(0.027) tolerated(0.39) neutral(0.018) superfamily_Protein kinase-like (PK-like) COL17A1 1308 genome.wustl.edu 37 10 105831820 105831820 + Nonsense_Mutation SNP G G A rs121912774 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000494.3 -1 reviewed p.R145* 1.000 336 0% 94 51.1% 0 - - - - NULL WDR96 80217 genome.wustl.edu 37 10 105889920 105889920 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025145.5 -1 provisional p.F1659L 1.000 318 0% 316 44.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDR96 80217 genome.wustl.edu 37 10 105889993 105889993 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000434629 -1 known p.Q966R 0.005 383 0% 371 43.1% 0 - - - - NULL WDR96 80217 genome.wustl.edu 37 10 105920805 105920805 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025145.5 -1 provisional p.K1177T 1.000 614 0% 300 37.3% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) superfamily_WD40 repeat-like WDR96 80217 genome.wustl.edu 37 10 105923953 105923953 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025145.5 -1 provisional p.R1049* 0.038 560 0% 135 48.9% 0 - - - - superfamily_WD40 repeat-like WDR96 80217 genome.wustl.edu 37 10 105947249 105947249 + Silent SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025145.5 -1 provisional p.V563 0.000 166 0% 92 48.9% 1 0% - - - superfamily_WD40 repeat-like WDR96 80217 genome.wustl.edu 37 10 105990518 105990518 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025145.5 -1 provisional p.F50C 1.000 102 0% 188 43.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like GSTO1 9446 genome.wustl.edu 37 10 106019443 106019443 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004832.1 +1 reviewed p.E85K 1.000 165 0% 181 49.2% 224 45.9% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_GST_N,superfamily_Thiordxn-like_fd ITPRIP 85450 genome.wustl.edu 37 10 106075739 106075739 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033397.2 -1 provisional p.P24L 1.000 90 0% 25 36% 13 61.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CCDC147 159686 genome.wustl.edu 37 10 106124519 106124519 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008723.1 +1 validated p.E157* 1.000 183 0% 70 47.1% 0 - - - - NULL CCDC147 159686 genome.wustl.edu 37 10 106130776 106130776 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008723.1 +1 validated p.E352* 0.999 107 0% 64 45.3% 0 - - - - NULL CCDC147 159686 genome.wustl.edu 37 10 106153215 106153215 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008723.1 +1 validated p.K552N 1.000 104 0% 36 58.3% 0 - benign(0.171) tolerated(0.05) neutral(0.361) NULL SORCS3 22986 genome.wustl.edu 37 10 106849590 106849590 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014978.1 +1 reviewed p.T362 0.004 386 0% 31 41.9% 0 - - - - HMMSmart_VPS10,superfamily_SSF110296 SORCS3 22986 genome.wustl.edu 37 10 106899195 106899195 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014978.1 +1 reviewed p.R418Q 0.996 356 0% 27 51.9% 0 - benign(0.271) tolerated(0.11) neutral(0.301) HMMSmart_VPS10,superfamily_SSF110296 SORCS1 114815 genome.wustl.edu 37 10 108489808 108489808 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013031.1 -1 reviewed p.H342Y 1.000 286 0% 125 36.8% 0 - benign(0) tolerated(1) - HMMSmart_VPS10,superfamily_SSF110296 ADD3 120 genome.wustl.edu 37 10 111879075 111879075 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016824.3 +1 reviewed p.R275I 1.000 256 0% 141 48.2% 23 52.1% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase MXI1 4601 genome.wustl.edu 37 10 112039790 112039790 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130439.3 +1 reviewed p.R224Q 1.000 190 0% 96 42.7% 91 32.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMC3 9126 genome.wustl.edu 37 10 112337617 112337617 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005445.3 +1 reviewed p.R99* 1.000 104 0% 143 49% 17 17.6% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC3 9126 genome.wustl.edu 37 10 112338406 112338406 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005445.3 +1 reviewed p.L124R 1.000 192 0% 170 41.8% 24 29.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC3 9126 genome.wustl.edu 37 10 112350295 112350295 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005445.3 +1 reviewed p.A545 1.000 164 0% 102 12.7% 21 0% - - - HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC3 9126 genome.wustl.edu 37 10 112361731 112361731 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005445.3 +1 reviewed p.R967Q 1.000 43 0% 73 38.4% 65 66.1% possibly_damaging(0.482) deleterious(0.01) deleterious(0.566) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases PDCD4 27250 genome.wustl.edu 37 10 112645019 112645019 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014456.3 +1 reviewed p.C150 1.000 151 0% 98 39.8% 52 50% - - - NULL SHOC2 8036 genome.wustl.edu 37 10 112724138 112724138 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007373.3 +1 reviewed p.E8* 1.000 72 0% 38 39.5% 18 55.5% - - - NULL SHOC2 8036 genome.wustl.edu 37 10 112724563 112724563 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007373.3 +1 reviewed p.M149I 1.000 81 0% 22 40.9% 12 33.3% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like ADRA2A 150 genome.wustl.edu 37 10 112838084 112838084 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000681.3 +1 reviewed p.V110 0.998 62 0% 32 28.1% 4 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NRAP 4892 genome.wustl.edu 37 10 115356908 115356908 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198060.2 -1 validated p.F1456L 1.000 284 0% 208 18.3% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Nebulin,HMMSmart_SM00227 NRAP 4892 genome.wustl.edu 37 10 115373960 115373960 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198060.2 -1 validated p.A1094 0.683 251 0% 92 60.9% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NRAP 4892 genome.wustl.edu 37 10 115374706 115374706 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198060.2 -1 validated e28-1 1.000 361 0% 102 51% 0 - - - - - NRAP 4892 genome.wustl.edu 37 10 115380387 115380387 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198060.2 -1 validated p.K950 1.000 366 0% 81 49.4% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 C10orf81 79949 genome.wustl.edu 37 10 115527103 115527103 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000369310 +1 known e4-1 1.000 87 0% 35 48.6% 0 - - - - - C10orf118 55088 genome.wustl.edu 37 10 115910861 115910861 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018017.2 -1 validated p.R293Q 0.999 709 0% 182 47.3% 7 42.8% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL FAM160B1 57700 genome.wustl.edu 37 10 116606412 116606412 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020940.3 +1 validated p.R498I 1.000 132 0% 90 47.8% 12 75% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PNLIPRP3 119548 genome.wustl.edu 37 10 118225643 118225643 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001011709.2 +1 validated p.I297S 0.695 404 0% 352 44.6% 0 - possibly_damaging(0.671) tolerated(0.07) deleterious(0.557) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIPRP1 5407 genome.wustl.edu 37 10 118351366 118351366 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006229.2 +1 provisional p.L45I 0.209 158 0% 65 49.2% 2 0% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIPRP2 5408 genome.wustl.edu 37 10 118390786 118390786 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005396.4 +1 validated p.S246Y 1.000 305 0% 180 41.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HSPA12A 259217 genome.wustl.edu 37 10 118439072 118439072 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025015.2 -1 validated p.I410L 1.000 203 0.5% 120 45% 0 - probably_damaging(0.997) tolerated(0.18) deleterious(0.522) superfamily_SSF53067 KIAA1598 57698 genome.wustl.edu 37 10 118711512 118711512 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127211.1 -1 validated p.R148* 1.000 77 0% 84 44% 17 11.7% - - - NULL VAX1 11023 genome.wustl.edu 37 10 118891801 118891801 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199131.2 -1 reviewed p.Q160H 0.000 40 0% 127 46.5% 0 - unknown(0) deleterious(0.01) - HMMSmart_SM00389 KCNK18 338567 genome.wustl.edu 37 10 118969771 118969771 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181840.1 +1 provisional p.F372L 0.759 171 0% 204 45.6% 0 - probably_damaging(0.98) tolerated(0.29) neutral(0.453) NULL PDZD8 118987 genome.wustl.edu 37 10 119042954 119042954 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173791.3 -1 provisional p.G1097D 1.000 261 0% 178 47.8% 72 40.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LOC100129413 100129413 genome.wustl.edu 37 10 119799784 119799784 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001726297.1 +1 model p.E60* 1.000 115 0% 97 47.4% 4 0% possibly_damaging(0.946) tolerated(0.07) deleterious(0.709) NULL FAM45A 404636 genome.wustl.edu 37 10 120867630 120867630 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207009.2 +1 validated p.F69S 1.000 74 0% 141 47.5% 16 37.5% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL INPP5F 22876 genome.wustl.edu 37 10 121551401 121551401 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014937.2 +1 reviewed p.K155N 1.000 120 0% 257 42% 10 50% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) HMMPfam_Syja_N INPP5F 22876 genome.wustl.edu 37 10 121587396 121587396 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_003252.1 +1 reviewed NULL 0.000 4 0.000 11 0.455 13 53.8% - - - - SEC23IP 11196 genome.wustl.edu 37 10 121662506 121662506 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007190.2 +1 reviewed p.E298* 1.000 244 0% 172 38.4% 14 50% - - - NULL WDR11 55717 genome.wustl.edu 37 10 122640387 122640387 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018117.11 +1 reviewed p.I571 0.597 110 0% 76 46.1% 7 42.8% - - - HMMSmart_WD40,superfamily_WD40_like FGFR2 2263 genome.wustl.edu 37 10 123258036 123258036 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022970.3 -1 reviewed p.N550H 1.000 211 0% 245 42.9% 32 65.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like TACC2 10579 genome.wustl.edu 37 10 123842567 123842567 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206862.2 +1 reviewed p.Q184H 0.000 11 0% 18 66.7% 1 0% benign(0) tolerated(0.3) neutral(0.029) NULL TACC2 10579 genome.wustl.edu 37 10 123844933 123844933 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206862.2 +1 reviewed p.S973Y 0.000 24 0% 28 39.3% 6 50% possibly_damaging(0.528) deleterious(0) deleterious(0.623) NULL BTBD16 118663 genome.wustl.edu 37 10 124066803 124066803 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144587.2 +1 validated p.T297 0.001 340 0.3% 299 42.8% 0 - - - - NULL CUZD1 50624 genome.wustl.edu 37 10 124595821 124595821 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022034.4 -1 provisional p.K288R 0.902 119 0% 152 44.7% 0 - benign(0.054) tolerated(0.86) neutral(0.004) HMMPfam_Zona_pellucida,HMMSmart_SM00241 C10orf88 80007 genome.wustl.edu 37 10 124712452 124712452 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024942.3 -1 validated p.I87 0.001 193 0% 190 40% 4 25% - - - NULL IKZF5 64376 genome.wustl.edu 37 10 124753884 124753884 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022466.5 -1 provisional p.T224 0.783 352 0% 255 41.2% 13 46.1% - - - NULL C10orf137 26098 genome.wustl.edu 37 10 127442317 127442317 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015608.2 +1 validated p.E1116* 0.991 332 0% 127 33.9% 10 20% - - - NULL BCCIP 56647 genome.wustl.edu 37 10 127529842 127529842 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016567.3 +1 reviewed p.V265L 0.000 80 0% 55 45.5% 34 52.9% benign(0.003) tolerated(0.29) neutral(0.029) NULL ADAM12 8038 genome.wustl.edu 37 10 127760179 127760179 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003474.4 -1 reviewed p.L400S 1.000 235 0% 46 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM12 8038 genome.wustl.edu 37 10 127967554 127967554 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003474.4 -1 reviewed p.H64N 1.000 270 0% 210 50.5% 1 0% possibly_damaging(0.923) tolerated(0.16) neutral(0.432) HMMPfam_Pep_M12B_propep C10orf90 118611 genome.wustl.edu 37 10 128149983 128149983 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004298.2 -1 validated p.S569Y 0.205 133 0% 41 39% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C10orf90 118611 genome.wustl.edu 37 10 128193576 128193576 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004298.2 -1 validated p.E65* 0.002 146 0% 122 41% 0 - - - - NULL DOCK1 1793 genome.wustl.edu 37 10 128908585 128908585 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000398025 +1 known p.E843K 1.000 219 0.5% 96 38.5% 13 69.2% benign(0.001) tolerated(0.31) neutral(0.027) NULL FAM196A 642938 genome.wustl.edu 37 10 128973653 128973653 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039762.2 -1 validated p.S336I 0.698 43 0% 35 37.1% 0 - benign(0.039) tolerated(0.18) neutral(0.058) NULL FAM196A 642938 genome.wustl.edu 37 10 128974003 128974003 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039762.2 -1 validated p.E219D 0.188 40 0% 34 38.2% 1 100% benign(0) tolerated(0.46) neutral(0.012) NULL DOCK1 1793 genome.wustl.edu 37 10 129242541 129242541 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000398025 +1 known p.S1849L 0.999 126 0% 66 56.1% 30 56.6% probably_damaging(0.959) tolerated(0.11) deleterious(0.674) NULL MKI67 4288 genome.wustl.edu 37 10 129901985 129901985 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002417.4 -1 reviewed p.E2707* 0.000 191 0.5% 155 45.2% 31 12.9% - - - HMMPfam_K167R TCERG1L 256536 genome.wustl.edu 37 10 132891455 132891455 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174937.3 -1 validated p.E577D 0.997 185 0% 277 24.5% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL DPYSL4 10570 genome.wustl.edu 37 10 134008424 134008424 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006426.2 +1 validated p.A130V 0.001 4 0.000 10 0.400 65 0% benign(0) deleterious(0) neutral(0.445) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases DPYSL4 10570 genome.wustl.edu 37 10 134018389 134018389 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006426.2 +1 validated p.I558 1.000 30 0% 39 46.2% 37 94.5% - - - NULL LRRC27 80313 genome.wustl.edu 37 10 134150894 134150894 + RNA SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_026559.1 +1 validated NULL 0.000 5 0.000 48 0.458 0 - - - - - LRRC27 80313 genome.wustl.edu 37 10 134188732 134188732 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143757.1 +1 validated p.R527C 0.000 50 0% 96 44.8% 14 28.5% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL INPP5A 3632 genome.wustl.edu 37 10 134540403 134540403 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000342652 +1 known p.R214C 0.446 100 0% 103 43.7% 12 25% - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like INPP5A 3632 genome.wustl.edu 37 10 134563108 134563108 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005539.3 +1 reviewed p.D274N 1.000 9 0.000 25 0.480 5 20% possibly_damaging(0.461) tolerated(0.32) neutral(0.175) HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos TTC40 54777 genome.wustl.edu 37 10 134646924 134646924 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000368586 -1 known p.S2352Y 0.000 41 0% 57 36.8% 0 - probably_damaging(0.959) tolerated(0.08) deleterious(0.703) NULL KNDC1 85442 genome.wustl.edu 37 10 135015105 135015105 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152643.6 +1 validated p.F1030 0.006 9 0.000 23 0.391 0 - - - - NULL KNDC1 85442 genome.wustl.edu 37 10 135032358 135032358 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152643.6 +1 validated p.K1567N 0.944 36 0% 90 47.8% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF RIC8A 60626 genome.wustl.edu 37 11 211298 211298 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021932.4 +1 provisional p.N306 1.000 127 0% 105 40% 112 47.3% - - - HMMPfam_Ric8 ATHL1 80162 genome.wustl.edu 37 11 292901 292901 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025092.4 +1 validated p.R392* 0.225 46 0% 104 44.2% 2 0% - - - HMMPfam_Glyco_hydro_65m,superfamily_Six-hairpin glycosidases PTDSS2 81490 genome.wustl.edu 37 11 488250 488250 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030783.1 +1 provisional p.E225K 1.000 35 0% 29 51.7% 67 49.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PSS LRRC56 115399 genome.wustl.edu 37 11 551756 551756 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198075.3 +1 validated p.G301V 0.346 4 0.000 21 0.286 7 57.1% probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL PDDC1 347862 genome.wustl.edu 37 11 774097 774097 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182612.2 -1 validated p.F53C 0.999 14 0% 25 60% 32 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DJ-1_PfpI,superfamily_Class I glutamine amidotransferase-like CHID1 66005 genome.wustl.edu 37 11 903007 903007 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142676.1 -1 validated p.A97 0.147 31 0% 68 42.6% 166 43.9% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1263684 1263684 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002458.1 +1 validated p.K1861N 0.019 69 0% 50 44% 0 - benign(0.099) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1272524 1272524 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002458.1 +1 validated p.S4808Y 0.001 53 0% 206 41.7% 0 - unknown(0) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1272562 1272562 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002458.1 +1 validated p.I4821V 0.000 33 0% 91 44% 0 - unknown(0) - - NULL BRSK2 9024 genome.wustl.edu 37 11 1463781 1463781 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003957.2 +1 validated p.D159Y 1.000 28 0% 58 39.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase KRTAP5-3 387266 genome.wustl.edu 37 11 1628905 1628905 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012708.2 -1 validated p.K237N 0.999 518 0.2% 119 10.9% 0 - unknown(0) tolerated(0.26) - NULL KRTAP5-3 387266 genome.wustl.edu 37 11 1629428 1629428 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012708.2 -1 validated p.S63F 0.432 122 0% 57 45.6% 0 - unknown(0) tolerated(0.12) - NULL KRTAP5-5 439915 genome.wustl.edu 37 11 1651202 1651202 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001480.2 +1 validated p.G44 0.388 39 5.1% 31 22.6% 0 - - - - NULL TNNI2 7136 genome.wustl.edu 37 11 1862079 1862079 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003282.3 +1 reviewed p.D73N 0.993 12 0% 28 46.4% 0 - possibly_damaging(0.934) deleterious(0.03) deleterious(0.744) HMMPfam_Troponin LSP1 4046 genome.wustl.edu 37 11 1874388 1874388 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002339.2 +1 reviewed p.S5L 0.061 36 0% 43 14% 5 0% benign(0.002) tolerated(0.08) neutral(0.300) NULL LSP1 4046 genome.wustl.edu 37 11 1905220 1905220 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002339.2 +1 reviewed p.E186G 0.002 35 0% 20 50% 25 0% possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL INS 3630 genome.wustl.edu 37 11 2181072 2181072 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000421783 -1 known p.R73H 0.042 10 0% 36 33.3% 0 - probably_damaging(0.977) tolerated(0.19) neutral(0.468) HMMPfam_Insulin,HMMSmart_SM00078 INS 3630 genome.wustl.edu 37 11 2181097 2181097 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000421783 -1 known p.E65* 1.000 10 0% 39 64.1% 0 - - - - HMMPfam_Insulin,HMMSmart_SM00078 C11orf21 29125 genome.wustl.edu 37 11 2321946 2321946 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142946.1 -1 predicted p.E53 0.000 15 0% 35 37.1% 0 - - - - NULL TSSC4 10078 genome.wustl.edu 37 11 2423908 2423908 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005706.2 +1 reviewed p.G15 0.000 7 0.000 16 0.312 76 39.4% - - - NULL KCNQ1 3784 genome.wustl.edu 37 11 2606455 2606455 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000218.2 +1 reviewed p.S349L 0.999 55 0% 50 36% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels NAP1L4 4676 genome.wustl.edu 37 11 2975771 2975771 + Nonsense_Mutation SNP C C A rs12800238 byCluster;byFrequency TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005969.3 -1 reviewed p.E341* 1.000 110 0% 64 42.2% 119 10.9% - - - HMMPfam_NAP ZNF195 7748 genome.wustl.edu 37 11 3380448 3380448 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130520.1 -1 validated p.K597R 0.981 328 0% 83 45.8% 50 58% benign(0.235) tolerated(0.37) neutral(0.042) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NUP98 4928 genome.wustl.edu 37 11 3723774 3723774 + Missense_Mutation SNP T T G rs141031626 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016320.4 -1 reviewed p.N1144T 1.000 114 0% 66 40.9% 28 39.2% benign(0.001) tolerated(0.28) neutral(0.032) NULL NUP98 4928 genome.wustl.edu 37 11 3752621 3752621 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016320.4 -1 reviewed p.K577T 1.000 272 0% 125 52% 23 52.1% possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) NULL OR52B4 143496 genome.wustl.edu 37 11 4388777 4388777 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005161.3 -1 validated p.I250T 0.591 348 0% 27 48.1% 0 - benign(0.072) deleterious(0) neutral(0.450) HMMPfam_7tm_1,superfamily_SSF81321 OR52B4 143496 genome.wustl.edu 37 11 4389036 4389036 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005161.3 -1 validated p.L164I 0.010 110 0% 14 42.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 TRIM21 6737 genome.wustl.edu 37 11 4411453 4411453 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003141.3 -1 reviewed p.L63I 0.000 134 0.7% 41 56.1% 10 70% probably_damaging(0.995) tolerated(0.2) deleterious(0.507) superfamily_SSF57850 C11orf40 143501 genome.wustl.edu 37 11 4594673 4594673 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144663.1 -1 provisional p.F57L 0.000 198 0% 120 31.7% 0 - unknown(0) - - NULL OR52I2 143502 genome.wustl.edu 37 11 4608533 4608533 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005170.2 +1 validated p.R164I 0.009 222 0% 39 28.2% 0 - benign(0.118) deleterious(0.01) neutral(0.415) HMMPfam_7tm_1,superfamily_SSF81321 OR51F2 119694 genome.wustl.edu 37 11 4843204 4843204 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004753.1 +1 provisional p.D197Y 0.870 599 0% 49 49% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR51S1 119692 genome.wustl.edu 37 11 4869839 4869839 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004758.1 -1 provisional p.A200 0.000 143 0% 19 68.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51A7 119687 genome.wustl.edu 37 11 4928766 4928766 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004749.1 +1 provisional p.H56R 1.000 279 0% 79 38% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_7tm_1,superfamily_SSF81321 OR51G2 81282 genome.wustl.edu 37 11 4936033 4936033 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005238.1 -1 provisional p.L287 0.000 76 0% 30 46.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51A4 401666 genome.wustl.edu 37 11 4967904 4967904 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005329.1 -1 provisional p.V143I 0.000 438 0% 98 50% 0 - benign(0.067) tolerated(1) neutral(0.004) HMMPfam_7tm_1,superfamily_SSF81321 OR51A4 401666 genome.wustl.edu 37 11 4968138 4968138 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005329.1 -1 provisional p.L65I 0.986 406 0% 84 15.5% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_7tm_1,superfamily_SSF81321 OR51L1 119682 genome.wustl.edu 37 11 5020417 5020417 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004755.1 +1 provisional p.A69T 0.998 503 0% 81 33.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 OR52E2 119678 genome.wustl.edu 37 11 5080509 5080509 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005164.2 -1 validated p.L117I 0.830 245 0% 44 31.8% 0 - possibly_damaging(0.933) deleterious(0.02) deleterious(0.762) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52A4 390053 genome.wustl.edu 37 11 5142290 5142290 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005222.2 -1 validated p.L173 0.019 122 0.8% 10 40% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR52A5 390054 genome.wustl.edu 37 11 5153404 5153404 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005160.2 -1 validated p.L157I 0.001 131 0% 39 28.2% 0 - possibly_damaging(0.52) tolerated(0.23) neutral(0.216) HMMPfam_7tm_1,superfamily_SSF81321 OR51V1 283111 genome.wustl.edu 37 11 5221437 5221437 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004760.2 -1 validated p.I165T 0.050 38 0% 15 46.7% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HBD 3045 genome.wustl.edu 37 11 5255230 5255230 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000519.3 -1 reviewed p.E102D 1.000 197 0% 29 55.2% 1 0% possibly_damaging(0.794) deleterious(0) deleterious(0.742) HMMPfam_Globin,superfamily_Globin-like OR51B2 79345 genome.wustl.edu 37 11 5344746 5344746 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033180.4 -1 validated p.R261K 0.378 146 0% 45 40% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51Q1 390061 genome.wustl.edu 37 11 5443717 5443717 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004757.2 +1 validated p.S96F 0.892 536 0% 140 36.4% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR51Q1 390061 genome.wustl.edu 37 11 5443930 5443930 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004757.2 +1 validated p.R167Q 1.000 445 0.2% 136 36.8% 0 - possibly_damaging(0.526) tolerated(0.07) deleterious(0.496) HMMPfam_7tm_1,superfamily_SSF81321 OR51I1 390063 genome.wustl.edu 37 11 5462323 5462323 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005288.2 -1 validated p.N141S 0.000 214 0% 27 40.7% 0 - benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51I2 390064 genome.wustl.edu 37 11 5475036 5475036 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004754.2 +1 validated p.F106L 0.965 213 0% 67 44.8% 0 - benign(0.088) tolerated(0.68) neutral(0.009) HMMPfam_7tm_1,superfamily_SSF81321 UBQLN3 50613 genome.wustl.edu 37 11 5528821 5528821 + Nonstop_Mutation SNP C C A rs12574024 byCluster;byFrequency;byHapMap TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017481.2 -1 reviewed p.*656Y 0.045 29 0% 30 20% 0 - - - - NULL UBQLN3 50613 genome.wustl.edu 37 11 5530616 5530616 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017481.2 -1 reviewed p.P58H 1.000 121 0% 82 61% 0 - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 UBQLNL 143630 genome.wustl.edu 37 11 5537034 5537034 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145053.4 -1 validated p.R213H 0.961 141 0% 57 50.9% 2 0% benign(0) tolerated(1) - NULL TRIM22 10346 genome.wustl.edu 37 11 5730377 5730377 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006074.3 +1 reviewed p.K332N 0.000 416 0% 165 52.7% 15 20% benign(0) tolerated(0.21) neutral(0.044) NULL TRIM22 10346 genome.wustl.edu 37 11 5730491 5730491 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006074.3 +1 reviewed p.G370 0.971 328 0.3% 173 43.4% 5 40% - - - HMMPfam_SPRY,HMMSmart_SM00449 OR52N1 79473 genome.wustl.edu 37 11 5809137 5809137 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001913.1 -1 provisional p.E304K 0.236 95 0% 13 92.3% 0 - benign(0) tolerated(0.26) neutral(0.034) superfamily_SSF81321 OR52E6 390078 genome.wustl.edu 37 11 5863129 5863129 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000379946 -1 known p.R4I 0.087 129 0% 26 42.3% 0 - benign(0.113) tolerated(0.11) neutral(0.281) superfamily_Family A G protein-coupled receptor-like OR56A3 390083 genome.wustl.edu 37 11 5968793 5968793 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003443.2 +1 provisional p.L73M 0.056 374 0% 67 41.8% 0 - possibly_damaging(0.908) tolerated(0.09) deleterious(0.658) HMMPfam_7tm_1,superfamily_SSF81321 OR56A5 390084 genome.wustl.edu 37 11 5989680 5989680 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343047.1 -1 model p.F15L 0.244 171 0% 94 53.2% 0 - - - - superfamily_SSF81321 OR56A4 120793 genome.wustl.edu 37 11 6023689 6023689 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005179.2 -1 provisional p.K230 0.013 125 0% 42 52.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR56B4 196335 genome.wustl.edu 37 11 6129374 6129374 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005181.1 +1 provisional p.L122 0.071 352 0% 67 47.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CNGA4 1262 genome.wustl.edu 37 11 6262964 6262964 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037329.2 +1 validated p.L407 0.844 422 0% 84 46.4% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like SMPD1 6609 genome.wustl.edu 37 11 6412712 6412712 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000543.3 +1 reviewed p.L139 1.000 110 0% 18 27.8% 12 33.3% - - - HMMSmart_SM00741,superfamily_Saposin APBB1 322 genome.wustl.edu 37 11 6416789 6416789 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001164.2 -1 reviewed p.K703T 1.000 27 0% 15 66.7% 8 50% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL HPX 3263 genome.wustl.edu 37 11 6458325 6458325 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000613.2 -1 reviewed p.V262 0.410 102 0% 32 40.6% 1 100% - - - superfamily_Hemopexin DNHD1 144132 genome.wustl.edu 37 11 6579419 6579419 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144666.2 +1 provisional p.S2965I 1.000 114 0% 48 50% 2 0% possibly_damaging(0.951) tolerated(0.48) neutral(0.405) NULL DNHD1 144132 genome.wustl.edu 37 11 6585772 6585772 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144666.2 +1 provisional p.K3498N 0.009 196 0% 121 38% 1 0% possibly_damaging(0.815) deleterious(0.03) deleterious(0.672) NULL ILK 3611 genome.wustl.edu 37 11 6629964 6629964 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014794.1 +1 reviewed p.K131T 1.000 60 0% 80 37.5% 99 37.3% possibly_damaging(0.615) deleterious(0.01) deleterious(0.619) HMMPfam_Ank,superfamily_ANK TPP1 1200 genome.wustl.edu 37 11 6640072 6640072 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000391.3 -1 reviewed p.Q55P 1.000 44 0% 34 50% 39 20.5% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) superfamily_Protease propeptides/inhibitors,HMMPfam_Pro-kuma_activ TPP1 1200 genome.wustl.edu 37 11 6640463 6640463 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000391.3 -1 reviewed p.K18T 0.692 67 0% 73 43.8% 19 15.7% benign(0.414) deleterious(0) deleterious(0.579) NULL DCHS1 8642 genome.wustl.edu 37 11 6647157 6647157 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003737.2 -1 reviewed p.E2242G 1.000 77 0% 67 38.8% 4 0% probably_damaging(0.992) tolerated(0.41) neutral(0.463) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6662097 6662097 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003737.2 -1 reviewed p.D250Y 1.000 56 0% 38 55.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin OR10A2 341276 genome.wustl.edu 37 11 6891627 6891627 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004460.1 +1 provisional p.K214N 0.994 556 0% 204 45.6% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_SSF81321 OR2D2 120776 genome.wustl.edu 37 11 6912902 6912902 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003700.1 -1 provisional p.A277V 0.026 387 0% 43 41.9% 0 - possibly_damaging(0.72) deleterious(0.04) deleterious(0.610) HMMPfam_7tm_1,superfamily_SSF81321 ZNF215 7762 genome.wustl.edu 37 11 6964316 6964316 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013250.2 +1 validated p.E162 0.997 292 0% 50 34% 0 - - - - superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF215 7762 genome.wustl.edu 37 11 6977415 6977415 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013250.2 +1 validated p.G403* 1.000 134 0% 61 49.2% 4 0% - - - superfamily_C2H2 and C2HC zinc fingers NLRP14 338323 genome.wustl.edu 37 11 7064596 7064596 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176822.3 +1 reviewed p.L447F 0.423 140 0% 55 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP14 338323 genome.wustl.edu 37 11 7067926 7067926 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176822.3 +1 reviewed p.W662* 0.948 257 0% 89 55.1% 0 - - - - superfamily_SSF52047 NLRP14 338323 genome.wustl.edu 37 11 7081280 7081280 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176822.3 +1 reviewed p.N930T 0.012 180 0% 18 38.9% 0 - benign(0.157) tolerated(0.41) neutral(0.029) superfamily_SSF52047 OLFML1 283298 genome.wustl.edu 37 11 7507122 7507122 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198474.3 +1 validated p.R6* 0.000 336 0% 60 40% 0 - - - - NULL PPFIBP2 8495 genome.wustl.edu 37 11 7663554 7663554 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003621.2 +1 validated p.F515V 1.000 30 0% 19 36.8% 21 52.3% probably_damaging(0.991) tolerated(0.21) deleterious(0.488) NULL OVCH2 341277 genome.wustl.edu 37 11 7713155 7713155 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198185.2 -1 validated p.D495 0.934 244 0% 56 42.9% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OR5P2 120065 genome.wustl.edu 37 11 7818092 7818092 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153444.1 -1 provisional p.S133F 1.000 107 0.9% 29 44.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR5P2 120065 genome.wustl.edu 37 11 7818203 7818203 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153444.1 -1 provisional p.Q96R 0.993 144 0.7% 28 35.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5P2 120065 genome.wustl.edu 37 11 7818347 7818347 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153444.1 -1 provisional p.S48Y 0.001 149 0% 29 51.7% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_7tm_1,superfamily_SSF81321 NLRP10 338322 genome.wustl.edu 37 11 7982381 7982381 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176821.3 -1 reviewed p.E260* 0.000 69 0% 37 43.2% 0 - - - - HMMPfam_NACHT,superfamily_SSF52540 TUB 7275 genome.wustl.edu 37 11 8118305 8118305 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003320.4 +1 reviewed p.L268 0.523 99 0% 57 42.1% 3 33.3% - - - NULL TUB 7275 genome.wustl.edu 37 11 8122516 8122516 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003320.4 +1 reviewed p.K508N 1.000 329 0% 91 41.8% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tub,superfamily_Tubby_C,PatternScan_TUB_1 STK33 65975 genome.wustl.edu 37 11 8457647 8457647 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030906.2 -1 validated p.E329D 0.998 63 0% 45 24.4% 5 20% benign(0.023) tolerated(0.22) neutral(0.043) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DENND5A 23258 genome.wustl.edu 37 11 9225789 9225789 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015213.2 -1 validated p.T123A 1.000 112 0% 40 45% 8 50% possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) HMMPfam_uDENN,HMMSmart_SM00800 SWAP70 23075 genome.wustl.edu 37 11 9759801 9759801 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015055.2 +1 validated p.K374N 1.000 81 0% 47 44.7% 38 47.3% possibly_damaging(0.707) tolerated(0.07) deleterious(0.574) NULL SBF2 81846 genome.wustl.edu 37 11 9861174 9861174 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030962.3 -1 reviewed p.L1109S 1.000 96 0% 103 44.7% 10 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_(Phosphotyrosine protein) phosphatases II SBF2 81846 genome.wustl.edu 37 11 9867113 9867113 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030962.3 -1 reviewed p.R1037C 1.000 162 0% 123 47.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SBF2 81846 genome.wustl.edu 37 11 9871708 9871708 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030962.3 -1 reviewed p.R890* 1.000 89 0% 28 50% 3 33.3% - - - HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like SBF2 81846 genome.wustl.edu 37 11 9989919 9989919 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030962.3 -1 reviewed p.K523N 1.000 400 0% 141 44.7% 3 33.3% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL AMPD3 272 genome.wustl.edu 37 11 10515030 10515030 + Silent SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000480.2 +1 reviewed p.V367 1.000 97 0% 17 35.3% 0 - - - - HMMPfam_A_deaminase,superfamily_SSF51556 USP47 55031 genome.wustl.edu 37 11 11919204 11919204 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017944.3 +1 validated p.L118R 1.000 101 0% 112 49.1% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases USP47 55031 genome.wustl.edu 37 11 11941938 11941938 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017944.3 +1 validated p.R304I 1.000 129 0% 48 52.1% 20 35% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases MICALCL 84953 genome.wustl.edu 37 11 12316121 12316121 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032867.2 +1 validated p.E381D 0.958 150 0% 71 18.3% 0 - possibly_damaging(0.933) deleterious(0) deleterious(0.824) NULL PARVA 55742 genome.wustl.edu 37 11 12525924 12525924 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018222.3 +1 provisional p.R202H 1.000 362 0% 62 35.5% 68 41.1% benign(0.228) deleterious(0.01) neutral(0.428) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain PTH 5741 genome.wustl.edu 37 11 13514033 13514033 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000315.2 -1 reviewed p.V89 0.003 243 0% 78 50% 0 - - - - HMMPfam_Parathyroid FAR1 84188 genome.wustl.edu 37 11 13743342 13743342 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032228.5 +1 validated p.S398Y 1.000 164 0% 100 50% 36 41.6% possibly_damaging(0.778) deleterious(0.02) deleterious(0.674) HMMPfam_Sterile COPB1 1315 genome.wustl.edu 37 11 14501200 14501200 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144061.1 -1 reviewed p.R425C 1.000 67 0% 70 51.4% 58 5.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM-type_fold COPB1 1315 genome.wustl.edu 37 11 14515330 14515330 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144061.1 -1 reviewed p.R117* 1.000 94 0% 70 55.7% 29 6.8% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold PDE3B 5140 genome.wustl.edu 37 11 14810772 14810772 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000922.3 +1 validated p.E467* 1.000 117 0% 15 46.7% 0 - - - - NULL PDE3B 5140 genome.wustl.edu 37 11 14840702 14840702 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000922.3 +1 validated p.K585T 0.999 113 0% 55 52.7% 0 - benign(0.024) deleterious(0.02) neutral(0.384) NULL PDE3B 5140 genome.wustl.edu 37 11 14856536 14856536 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000922.3 +1 validated p.R739C 1.000 204 1% 59 50.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE3B 5140 genome.wustl.edu 37 11 14865418 14865418 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000922.3 +1 validated p.S789L 0.999 421 0% 328 44.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like INSC 387755 genome.wustl.edu 37 11 15262010 15262010 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031853.3 +1 provisional p.E518K 0.995 270 0% 31 51.6% 0 - benign(0.005) tolerated(0.65) neutral(0.003) HMMSmart_SM00185,superfamily_ARM repeat INSC 387755 genome.wustl.edu 37 11 15267579 15267579 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031853.3 +1 provisional p.F578S 1.000 305 0% 61 44.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ABCC8 6833 genome.wustl.edu 37 11 17418528 17418528 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000352.3 -1 reviewed p.R1352C 1.000 104 0% 40 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC8 6833 genome.wustl.edu 37 11 17430062 17430062 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000352.3 -1 reviewed p.I899 1.000 64 0% 36 44.4% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC8 6833 genome.wustl.edu 37 11 17436060 17436060 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000352.3 -1 reviewed p.R797W 0.999 167 0% 80 50% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC8 6833 genome.wustl.edu 37 11 17464736 17464736 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000352.3 -1 reviewed p.R486W 1.000 85 0% 30 20% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain KCNC1 3746 genome.wustl.edu 37 11 17757837 17757837 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112741.1 +1 reviewed p.I96 1.000 22 0% 13 61.5% 0 - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain ST13P5 144106 genome.wustl.edu 37 11 18283773 18283773 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000391478 +1 known p.E82G 1.000 17 0% 37 54.1% 16 0% - - - NULL ST13P5 144106 genome.wustl.edu 37 11 18284375 18284375 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000391478 +1 known p.G283C 0.995 6 0.000 22 0.545 0 - - - - NULL SAA1 6288 genome.wustl.edu 37 11 18291393 18291393 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000331.4 +1 reviewed p.E120D 0.047 195 0% 76 42.1% 1 0% benign(0) tolerated(1) - HMMPfam_SAA,HMMSmart_SM00197 TSG101 7251 genome.wustl.edu 37 11 18503318 18503318 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006292.2 -1 reviewed p.I314 0.999 398 0% 231 40.3% 133 45.1% - - - NULL UEVLD 55293 genome.wustl.edu 37 11 18553960 18553960 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040697.1 -1 validated p.V441 0.980 178 0% 197 42.6% 9 44.4% - - - HMMPfam_Ldh_1_C,superfamily_LDH C-terminal domain-like ENSG00000247595 0 genome.wustl.edu 37 11 18631732 18631732 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000501599 +1 known NULL 0.007 4 0.000 29 0.448 0 - - - - - TMEM86A 144110 genome.wustl.edu 37 11 18722737 18722737 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153347.1 +1 provisional p.F93 0.967 78 0% 34 20.6% 5 0% - - - HMMPfam_YhhN MRGPRX2 117194 genome.wustl.edu 37 11 19077884 19077884 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_054030.2 -1 provisional p.L22 0.000 80 0% 32 56.2% 0 - - - - superfamily_SSF81321 E2F8 79733 genome.wustl.edu 37 11 19251866 19251866 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024680.2 -1 validated p.S427Y 1.000 91 0% 87 46% 12 58.3% benign(0.001) deleterious(0.02) neutral(0.383) NULL NAV2 89797 genome.wustl.edu 37 11 19955099 19955099 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182964.5 +1 validated p.E437K 0.998 38 0% 30 46.7% 4 0% possibly_damaging(0.719) tolerated(0.12) deleterious(0.521) NULL NAV2 89797 genome.wustl.edu 37 11 20067110 20067110 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182964.5 +1 validated p.N1266D 1.000 107 0% 28 67.9% 12 33.3% probably_damaging(0.987) tolerated(1) neutral(0.436) NULL DBX1 120237 genome.wustl.edu 37 11 20180780 20180780 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029865.1 -1 provisional p.F142 0.977 230 0% 109 48.6% 0 - - - - NULL PRMT3 10196 genome.wustl.edu 37 11 20424475 20424475 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005788.3 +1 validated p.R239Q 1.000 273 0% 209 45.9% 20 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_S-adenosyl-L-methionine-dependent methyltransferases SLC6A5 9152 genome.wustl.edu 37 11 20652325 20652325 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004211.3 +1 reviewed p.E530* 1.000 224 0% 75 45.3% 0 - - - - HMMPfam_SNF SLC6A5 9152 genome.wustl.edu 37 11 20668388 20668388 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004211.3 +1 reviewed p.R660 0.999 329 0% 105 13.3% 0 - - - - HMMPfam_SNF SLC6A5 9152 genome.wustl.edu 37 11 20673890 20673890 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004211.3 +1 reviewed p.R709H 1.000 203 0% 172 52.9% 0 - benign(0.002) tolerated(0.17) neutral(0.059) HMMPfam_SNF SLC6A5 9152 genome.wustl.edu 37 11 20676387 20676387 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004211.3 +1 reviewed p.K789N 1.000 107 0% 51 47.1% 0 - possibly_damaging(0.821) deleterious(0) deleterious(0.755) NULL NELL1 4745 genome.wustl.edu 37 11 20949932 20949932 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006157.3 +1 reviewed p.V302M 1.000 167 0% 17 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00215 ANO5 203859 genome.wustl.edu 37 11 22301244 22301244 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_213599.2 +1 reviewed p.S892Y 0.007 102 0% 55 45.5% 2 0% benign(0.001) tolerated(0.45) neutral(0.012) NULL SLC17A6 57084 genome.wustl.edu 37 11 22399016 22399016 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020346.2 +1 validated p.F493L 1.000 91 0% 51 45.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_MFS_gen_substrate_transporter ANO3 63982 genome.wustl.edu 37 11 26484636 26484636 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031418.2 +1 validated p.R125C 1.000 86 0% 15 33.3% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL ANO3 63982 genome.wustl.edu 37 11 26568996 26568996 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031418.2 +1 validated p.F396 1.000 1039 0% 128 36.7% 0 - - - - NULL MUC15 143662 genome.wustl.edu 37 11 26584674 26584674 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135091.1 -1 validated p.R305I 1.000 43 0% 29 55.2% 0 - unknown(0) deleterious(0) - NULL LOC100288909 100288909 genome.wustl.edu 37 11 27016133 27016133 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343073.1 -1 model p.E151K 0.979 61 0% 34 50% 1 100% - - - NULL CCDC34 91057 genome.wustl.edu 37 11 27362372 27362372 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030771.1 -1 validated p.Q260* 1.000 211 0% 237 43.5% 25 8% - - - NULL CCDC34 91057 genome.wustl.edu 37 11 27371947 27371947 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030771.1 -1 validated p.E180* 1.000 391 0.3% 322 42.2% 33 15.1% - - - NULL LGR4 55366 genome.wustl.edu 37 11 27390495 27390495 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018490.2 -1 validated p.G592D 1.000 137 0% 75 44% 6 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 LGR4 55366 genome.wustl.edu 37 11 27401879 27401879 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018490.2 -1 validated p.R304C 1.000 78 0% 30 63.3% 3 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF52047,superfamily_SSF52058 EIF3M 10480 genome.wustl.edu 37 11 32610588 32610588 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006360.3 +1 provisional p.K115N 1.000 315 0% 122 48.4% 277 35% benign(0.004) tolerated(0.39) neutral(0.016) NULL CCDC73 493860 genome.wustl.edu 37 11 32624404 32624404 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008391.2 -1 validated p.K1065Q 1.000 415 0% 452 41.8% 2 50% possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL QSER1 79832 genome.wustl.edu 37 11 32955397 32955397 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001076786.1 +1 provisional p.L736I 1.000 89 0% 37 37.8% 11 54.5% possibly_damaging(0.949) deleterious(0.04) deleterious(0.742) NULL QSER1 79832 genome.wustl.edu 37 11 32975578 32975578 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001076786.1 +1 provisional p.G1322 0.999 210 0% 158 50% 12 50% - - - NULL TCP11L1 55346 genome.wustl.edu 37 11 33078696 33078696 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145541.1 +1 validated p.A111V 1.000 267 0% 157 42.7% 1 100% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Tcp11 HIPK3 10114 genome.wustl.edu 37 11 33308096 33308096 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005734.3 +1 validated p.N46D 1.000 136 0% 97 46.4% 5 60% benign(0.009) tolerated(0.24) neutral(0.038) NULL C11orf41 25758 genome.wustl.edu 37 11 33565738 33565738 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012194.1 +1 validated p.S580A 0.000 305 0% 117 46.2% 0 - benign(0) tolerated(1) - NULL C11orf41 25758 genome.wustl.edu 37 11 33566871 33566871 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012194.1 +1 validated p.K820R 0.001 79 0% 24 45.8% 0 - benign(0.002) tolerated(0.32) neutral(0.024) NULL C11orf41 25758 genome.wustl.edu 37 11 33689439 33689439 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012194.1 +1 validated p.I1769 0.811 28 0% 17 41.2% 0 - - - - NULL NAT10 55226 genome.wustl.edu 37 11 34158270 34158270 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024662.2 +1 validated p.E704K 1.000 130 0% 94 34% 43 30.2% possibly_damaging(0.675) deleterious(0.01) deleterious(0.645) superfamily_Acyl-CoA N-acyltransferases (Nat) NAT10 55226 genome.wustl.edu 37 11 34167729 34167729 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024662.2 +1 validated p.R1023Q 0.995 163 0% 247 44.9% 83 39.7% unknown(0) tolerated(0.18) - NULL ELF5 2001 genome.wustl.edu 37 11 34501823 34501823 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198381.1 -1 reviewed p.R247Q 1.000 244 0% 147 38.1% 3 0% probably_damaging(0.997) tolerated(0.26) deleterious(0.500) "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" EHF 26298 genome.wustl.edu 37 11 34673286 34673286 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012153.4 +1 validated p.L160 0.030 430 0% 91 29.7% 33 66.6% - - - NULL PDHX 8050 genome.wustl.edu 37 11 34969146 34969146 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003477.2 +1 reviewed p.K112T 1.000 288 0% 104 41.3% 33 51.5% possibly_damaging(0.626) deleterious(0) deleterious(0.662) HMMPfam_Biotin_lipoyl,superfamily_Hybrid_motif ENSG00000186082 0 genome.wustl.edu 37 11 35882455 35882455 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000333983 -1 known p.L200I 1.000 22 0% 24 37.5% 0 - - - - HMMPfam_Filament RAG1 5896 genome.wustl.edu 37 11 36596004 36596004 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000448.2 +1 reviewed p.E384* 0.582 49 0% 19 57.9% 0 - - - - NULL RAG1 5896 genome.wustl.edu 37 11 36597629 36597629 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000448.2 +1 reviewed p.T925 1.000 238 0% 64 40.6% 0 - - - - NULL RAG2 5897 genome.wustl.edu 37 11 36614556 36614556 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000536.3 -1 reviewed p.A388V 1.000 277 0% 199 49.2% 0 - possibly_damaging(0.928) deleterious(0) deleterious(0.820) HMMPfam_RAG2 LOC399881 399881 genome.wustl.edu 37 11 43283665 43283665 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_040375.2 -1 model NULL 0.997 37 0% 31 32.3% 0 - - - - - TTC17 55761 genome.wustl.edu 37 11 43513659 43513659 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018259.5 +1 validated p.I1080 0.875 408 0% 42 19% 27 3.7% - - - HMMSmart_TPR,superfamily_SSF48452 MIR129-2 406918 genome.wustl.edu 37 11 43602958 43602958 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000362207 +1 known NULL 1.000 156 0% 34 11.8% 0 - - - - - ALKBH3 221120 genome.wustl.edu 37 11 43913679 43913679 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139178.3 +1 validated p.H153 1.000 179 0% 146 43.8% 0 - - - - NULL ACCSL 390110 genome.wustl.edu 37 11 44069847 44069847 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031854.2 +1 validated p.A87 0.000 49 0% 22 54.5% 0 - - - - NULL ACCSL 390110 genome.wustl.edu 37 11 44071670 44071670 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031854.2 +1 validated p.R188I 0.998 157 0% 67 47.8% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) superfamily_PLP-dependent transferases EXT2 2132 genome.wustl.edu 37 11 44228434 44228434 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000401.3 +1 reviewed p.I542 0.998 228 0% 85 52.9% 64 43.7% - - - HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases CHST1 8534 genome.wustl.edu 37 11 45671803 45671803 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003654.4 -1 validated p.R224Q 0.870 17 0% 12 66.7% 7 28.5% probably_damaging(0.958) tolerated(0.14) deleterious(0.651) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 CREB3L1 90993 genome.wustl.edu 37 11 46299676 46299676 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052854.2 +1 validated p.L5S 0.995 17 0% 15 53.3% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL AMBRA1 55626 genome.wustl.edu 37 11 46529865 46529865 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017749.2 -1 validated p.D649Y 1.000 213 0% 58 53.4% 12 58.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CKAP5 9793 genome.wustl.edu 37 11 46780967 46780967 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008938.1 -1 validated p.P1474S 0.999 147 0% 54 48.1% 107 50.4% benign(0) tolerated(0.54) neutral(0.007) NULL CKAP5 9793 genome.wustl.edu 37 11 46799007 46799007 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008938.1 -1 validated p.T948 0.824 264 0% 104 39.4% 36 47.2% - - - superfamily_ARM repeat CKAP5 9793 genome.wustl.edu 37 11 46799692 46799692 + Silent SNP G G T rs147523907 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008938.1 -1 validated p.I915 1.000 191 0% 76 34.2% 38 31.5% - - - superfamily_ARM repeat MADD 8567 genome.wustl.edu 37 11 47296161 47296161 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003682.3 +1 reviewed p.R37Q 1.000 60 0% 53 41.5% 8 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_uDENN,HMMSmart_SM00800 FAM180B 399888 genome.wustl.edu 37 11 47609325 47609325 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000356737 +1 known p.S77 0.096 8 0.000 13 0.615 0 - - - - NULL FNBP4 23360 genome.wustl.edu 37 11 47774534 47774534 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015308.2 -1 validated p.S191P 0.624 207 0% 198 48% 19 52.6% benign(0) tolerated(0.15) neutral(0.241) NULL LOC340970 340970 genome.wustl.edu 37 11 49012735 49012735 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343062.1 -1 model p.E138D 0.267 42 0% 21 19% 0 - - - - NULL LOC340970 340970 genome.wustl.edu 37 11 49013140 49013140 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343062.1 -1 model p.E98D 0.768 104 0% 76 48.7% 0 - - - - HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_RING/U-box LOC283116 283116 genome.wustl.edu 37 11 49055866 49055866 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_208043.4 +1 model p.L226V 0.001 489 0% 485 39% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL FOLH1 2346 genome.wustl.edu 37 11 49196523 49196523 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004476.1 -1 reviewed p.V342 1.000 153 0% 138 58% 14 14.2% - - - superfamily_Transferrin receptor ectodomain apical domain,superfamily_Zn-dependent exopeptidases ENSG00000219061 0 genome.wustl.edu 37 11 49857326 49857326 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000405176 -1 known p.S249Y 0.010 16 0% 12 50% 0 - - - - NULL OR4C12 283093 genome.wustl.edu 37 11 50004023 50004023 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005270.2 -1 validated p.K5N 0.016 56 0% 20 25% 0 - benign(0) tolerated(1) - NULL OR4C46 119749 genome.wustl.edu 37 11 51515805 51515805 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004703.1 +1 provisional p.F175C 0.024 285 0% 101 47.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_SSF81321 LOC440041 440041 genome.wustl.edu 37 11 55062972 55062972 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_016142.3 -1 model NULL 0.039 117 0% 27 22.2% 0 - - - - - ENSG00000181943 0 genome.wustl.edu 37 11 55258873 55258873 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000314657 +1 known p.S52* 0.727 101 0% 23 39.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000181943 0 genome.wustl.edu 37 11 55258943 55258943 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000314657 +1 known p.K75N 0.004 191 0% 43 44.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C15 81309 genome.wustl.edu 37 11 55322199 55322199 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001920.1 +1 provisional p.L139 0.000 271 0% 40 30% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C15 81309 genome.wustl.edu 37 11 55322361 55322361 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001920.1 +1 provisional p.L193 0.100 432 0% 61 27.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C15 81309 genome.wustl.edu 37 11 55322686 55322686 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001920.1 +1 provisional p.L302 0.162 977 0% 161 15.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C16 219428 genome.wustl.edu 37 11 55340064 55340064 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004701.2 +1 validated p.S154Y 0.490 184 0% 57 26.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR4P4 81300 genome.wustl.edu 37 11 55406038 55406038 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004124.1 +1 provisional p.L69F 0.001 371 0% 70 55.7% 0 - probably_damaging(0.988) tolerated(0.08) deleterious(0.738) HMMPfam_7tm_1,superfamily_SSF81321 OR4C6 219432 genome.wustl.edu 37 11 55432736 55432736 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004704.1 +1 provisional p.M32V 0.000 444 0% 77 46.8% 0 - benign(0.07) tolerated(0.83) neutral(0.005) superfamily_Family A G protein-coupled receptor-like OR4C6 219432 genome.wustl.edu 37 11 55433483 55433483 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004704.1 +1 provisional p.N281H 1.000 199 0% 21 47.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5D13 390142 genome.wustl.edu 37 11 55541624 55541624 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001967.1 +1 provisional p.Q237H 0.011 232 0% 39 33.3% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_SSF81321 OR5D14 219436 genome.wustl.edu 37 11 55563865 55563865 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004735.1 +1 provisional p.V278 0.000 130 0% 54 33.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5I1 10798 genome.wustl.edu 37 11 55703124 55703124 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006637.1 -1 reviewed p.T251 0.004 144 0% 25 32% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5F1 338674 genome.wustl.edu 37 11 55761178 55761178 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003697.1 -1 provisional p.K308 0.003 75 0% 16 43.8% 0 - - - - superfamily_SSF81321 OR8I2 120586 genome.wustl.edu 37 11 55860867 55860867 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003750.1 +1 provisional p.F28L 0.001 254 0% 58 24.1% 0 - possibly_damaging(0.556) deleterious(0.03) deleterious(0.554) superfamily_Family A G protein-coupled receptor-like OR8J3 81168 genome.wustl.edu 37 11 55905177 55905177 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004064.1 -1 provisional p.F6L 0.002 102 0% 90 38.9% 0 - benign(0) tolerated(0.66) neutral(0.003) superfamily_SSF81321 OR5T3 390154 genome.wustl.edu 37 11 56019951 56019951 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004747.1 +1 provisional p.F92L 0.038 179 0% 94 35.1% 0 - benign(0.31) deleterious(0.05) neutral(0.442) HMMPfam_7tm_1,superfamily_SSF81321 OR5T3 390154 genome.wustl.edu 37 11 56020217 56020217 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004747.1 +1 provisional p.A181D 0.002 368 0% 124 46.8% 0 - benign(0.281) tolerated(0.19) neutral(0.136) HMMPfam_7tm_1,superfamily_SSF81321 OR5T1 390155 genome.wustl.edu 37 11 56043239 56043239 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004745.1 +1 provisional p.L42* 0.004 107 0% 55 47.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR8K3 219473 genome.wustl.edu 37 11 56086641 56086641 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005202.1 +1 provisional p.L287V 0.462 138 0% 65 12.3% 0 - benign(0.015) tolerated(0.05) neutral(0.346) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000230416 0 genome.wustl.edu 37 11 56216817 56216817 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000415874 +1 known p.L224M 0.005 154 0% 19 36.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M3 219482 genome.wustl.edu 37 11 56237763 56237763 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004742.1 -1 provisional p.F71L 0.009 150 0% 34 47.1% 0 - benign(0.07) deleterious(0) neutral(0.450) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M3 219482 genome.wustl.edu 37 11 56237958 56237958 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004742.1 -1 provisional p.D6N 0.065 55 0% 14 50% 0 - benign(0.001) tolerated(0.5) neutral(0.010) superfamily_Family A G protein-coupled receptor-like OR5M11 219487 genome.wustl.edu 37 11 56309944 56309944 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005245.1 -1 provisional p.D264Y 0.160 200 0% 49 12.2% 0 - benign(0.002) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 OR5M11 219487 genome.wustl.edu 37 11 56310489 56310489 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005245.1 -1 provisional p.S82L 0.693 246 0% 42 40.5% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR5M1 390168 genome.wustl.edu 37 11 56380184 56380184 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004740.1 -1 provisional p.E265D 0.001 183 0% 50 36% 0 - benign(0) tolerated(0.18) neutral(0.056) HMMPfam_7tm_1,superfamily_SSF81321 OR5AR1 219493 genome.wustl.edu 37 11 56431244 56431244 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004730.1 +1 provisional p.F28S 0.998 282 0% 48 52.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF81321 OR5AR1 219493 genome.wustl.edu 37 11 56431875 56431875 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004730.1 +1 provisional p.F238L 0.986 312 0% 51 41.2% 0 - benign(0.294) tolerated(0.06) neutral(0.413) HMMPfam_7tm_1,superfamily_SSF81321 OR5AR1 219493 genome.wustl.edu 37 11 56432087 56432087 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004730.1 +1 provisional p.S309Y 0.088 68 0% 22 31.8% 0 - benign(0.273) deleterious(0.01) neutral(0.435) superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56468773 56468773 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005213.1 +1 provisional p.L304I 0.000 169 0% 72 36.1% 0 - benign(0.002) tolerated(0.42) neutral(0.014) superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56510597 56510597 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005284.1 -1 provisional p.I231L 0.000 156 0% 68 47.1% 0 - benign(0.119) tolerated(0.16) neutral(0.069) HMMPfam_7tm_1,superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56510729 56510729 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005284.1 -1 provisional p.N187H 0.994 163 0% 55 32.7% 0 - probably_damaging(0.989) tolerated(0.07) deleterious(0.758) HMMPfam_7tm_1,superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56510789 56510789 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005284.1 -1 provisional p.G167* 0.195 127 0% 41 14.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TNKS1BP1 85456 genome.wustl.edu 37 11 57081319 57081319 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033396.2 -1 validated p.E281D 0.453 26 0% 39 43.6% 25 36% possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL SSRP1 6749 genome.wustl.edu 37 11 57094345 57094345 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003146.2 -1 reviewed p.K630N 1.000 99 0% 155 32.3% 360 43% unknown(0) tolerated(0.36) - NULL SSRP1 6749 genome.wustl.edu 37 11 57095243 57095243 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003146.2 -1 reviewed p.T575 0.001 46 0% 99 36.4% 333 49.8% - - - HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box SSRP1 6749 genome.wustl.edu 37 11 57098348 57098348 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003146.2 -1 reviewed p.K426T 1.000 44 0% 182 45.1% 378 51.3% possibly_damaging(0.512) deleterious(0.01) deleterious(0.578) NULL PRG3 10394 genome.wustl.edu 37 11 57147251 57147251 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006093.3 -1 validated p.E31* 0.010 16 0% 67 49.3% 0 - - - - NULL SLC43A1 8501 genome.wustl.edu 37 11 57263628 57263628 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003627.4 -1 provisional p.D190N 0.998 97 0% 35 57.1% 0 - benign(0.31) tolerated(0.07) neutral(0.415) superfamily_MFS general substrate transporter SMTNL1 219537 genome.wustl.edu 37 11 57310472 57310472 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105565.1 +1 provisional p.K137N 0.000 75 0% 106 44.3% 0 - possibly_damaging(0.64) tolerated(0.13) deleterious(0.477) NULL UBE2L6 9246 genome.wustl.edu 37 11 57322066 57322066 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004223.3 -1 reviewed p.N52D 0.007 100 0% 65 53.8% 32 9.3% benign(0.003) deleterious(0) neutral(0.445) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like CLP1 10978 genome.wustl.edu 37 11 57427100 57427100 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006831.2 +1 validated p.R51Q 1.000 181 0% 70 22.9% 13 30.7% benign(0.258) tolerated(0.34) neutral(0.050) NULL ZDHHC5 25921 genome.wustl.edu 37 11 57466552 57466552 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015457.2 +1 validated p.E548D 1.000 46 0% 21 52.4% 75 45.3% possibly_damaging(0.662) deleterious(0.03) deleterious(0.599) NULL TMX2 51075 genome.wustl.edu 37 11 57507621 57507621 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015959.2 +1 validated p.K265N 1.000 73 0% 83 42.2% 77 29.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL BTBD18 643376 genome.wustl.edu 37 11 57511990 57511990 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145101.1 -1 validated p.L585 0.394 155 0% 81 44.4% 0 - - - - NULL OR6Q1 219952 genome.wustl.edu 37 11 57798442 57798442 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005186.2 +1 validated p.K6N 0.005 242 0% 70 40% 0 - benign(0.004) tolerated(0.15) neutral(0.241) superfamily_Family A G protein-coupled receptor-like OR6Q1 219952 genome.wustl.edu 37 11 57798670 57798670 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005186.2 +1 validated p.K82N 0.999 550 0% 149 40.9% 0 - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1S2 219958 genome.wustl.edu 37 11 57971601 57971601 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004459.1 -1 validated p.N18S 0.983 238 0% 98 31.6% 0 - possibly_damaging(0.848) deleterious(0.01) deleterious(0.731) superfamily_SSF81321 OR10Q1 219960 genome.wustl.edu 37 11 57996153 57996153 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004471.2 -1 validated p.F65L 0.989 370 0% 79 44.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_SSF81321 OR5B3 441608 genome.wustl.edu 37 11 58170139 58170139 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005469.1 -1 validated p.I248 0.936 204 0% 50 40% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5B3 441608 genome.wustl.edu 37 11 58170627 58170627 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005469.1 -1 validated p.E86* 0.000 196 0% 59 50.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5B12 390191 genome.wustl.edu 37 11 58207139 58207139 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004733.2 -1 validated p.F162L 0.032 253 0% 67 40.3% 0 - benign(0.186) tolerated(0.22) neutral(0.060) HMMPfam_7tm_1,superfamily_SSF81321 GLYAT 10249 genome.wustl.edu 37 11 58491925 58491925 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201648.2 -1 validated p.E15 0.978 105 0% 21 42.9% 0 - - - - PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_Gly_acyl_tr_N GLYATL1 92292 genome.wustl.edu 37 11 58723340 58723340 + Missense_Mutation SNP G G A rs145479301 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080661.2 +1 provisional p.R281Q 0.000 174 0% 45 44.4% 1 0% benign(0.033) tolerated(0.38) neutral(0.019) HMMPfam_Gly_acyl_tr_C,superfamily_Acyl_CoA_acyltransferase LOC643637 643637 genome.wustl.edu 37 11 58817663 58817663 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343101.1 +1 model p.S159P 0.000 52 0% 26 50% 1 0% - - - HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) FAM111B 374393 genome.wustl.edu 37 11 58892737 58892737 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198947.3 +1 validated p.K389N 0.016 38 0% 34 47.1% 11 36.3% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL MPEG1 219972 genome.wustl.edu 37 11 58978213 58978213 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039396.1 -1 validated p.Q709R 0.000 242 0% 87 42.5% 1 0% benign(0) tolerated(0.5) neutral(0.010) NULL MPEG1 219972 genome.wustl.edu 37 11 58979329 58979329 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039396.1 -1 validated p.A337D 0.994 99 0% 65 12.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MACPF,HMMSmart_MACPF OR5A1 219982 genome.wustl.edu 37 11 59211014 59211014 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004728.1 +1 provisional p.R125* 0.806 366 0% 71 40.8% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR4D6 219983 genome.wustl.edu 37 11 59224964 59224964 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004708.1 +1 provisional p.F177L 0.998 535 0% 165 45.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR4D10 390197 genome.wustl.edu 37 11 59245542 59245542 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004705.1 +1 provisional p.L214F 0.000 213 0% 83 43.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4D11 219986 genome.wustl.edu 37 11 59271089 59271089 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004706.1 +1 provisional p.F14S 0.999 108 0% 61 21.3% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_SSF81321 PATL1 219988 genome.wustl.edu 37 11 59406550 59406550 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152716.2 -1 validated p.Q754H 1.000 156 0% 126 38.9% 29 37.9% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL STX3 6809 genome.wustl.edu 37 11 59556412 59556412 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004177.4 +1 reviewed p.K94T 0.996 166 0% 112 37.5% 58 50% probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_Syntaxin,HMMSmart_SM00503,superfamily_t-snare proteins PLAC1L 219990 genome.wustl.edu 37 11 59807947 59807947 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173801.3 +1 provisional p.V5 0.000 182 0% 66 59.1% 0 - - - - NULL PLAC1L 219990 genome.wustl.edu 37 11 59814450 59814450 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173801.3 +1 provisional p.E127D 0.000 190 0% 108 48.1% 0 - benign(0.008) tolerated(0.11) neutral(0.272) NULL MS4A4A 51338 genome.wustl.edu 37 11 60048169 60048169 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148975.1 +1 reviewed p.R7S 0.002 168 0% 32 53.1% 2 0% benign(0.13) deleterious(0) neutral(0.456) NULL MS4A14 84689 genome.wustl.edu 37 11 60164095 60164095 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032597.3 +1 validated p.T15I 0.000 231 0% 48 54.2% 0 - benign(0.04) tolerated(0.27) neutral(0.036) NULL MS4A14 84689 genome.wustl.edu 37 11 60183514 60183514 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032597.3 +1 validated p.Q358R 0.000 258 0% 31 51.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL MS4A14 84689 genome.wustl.edu 37 11 60184292 60184292 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032597.3 +1 validated p.P617 0.000 69 0% 30 43.3% 0 - - - - NULL MS4A5 64232 genome.wustl.edu 37 11 60197294 60197294 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023945.2 +1 reviewed p.I49 0.958 85 0% 75 46.7% 0 - - - - NULL MS4A8B 83661 genome.wustl.edu 37 11 60468341 60468341 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031457.1 +1 reviewed p.S3L 0.003 538 0.2% 88 87.5% 0 - benign(0.429) tolerated(0.08) neutral(0.440) NULL MS4A15 219995 genome.wustl.edu 37 11 60541390 60541390 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098835.1 +1 validated p.F193 0.998 330 0% 97 49.5% 0 - - - - PatternScan_IG_MHC,HMMPfam_CD20 TMEM132A 54972 genome.wustl.edu 37 11 60703526 60703526 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017870.3 +1 reviewed p.V741A 0.978 16 0% 25 52% 2 0% possibly_damaging(0.94) tolerated(0.45) neutral(0.397) NULL SLC15A3 51296 genome.wustl.edu 37 11 60709541 60709541 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016582.2 -1 validated p.S358Y 0.001 209 0% 108 14.8% 7 0% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) HMMPfam_PTR2,superfamily_MFS general substrate transporter DDB1 1642 genome.wustl.edu 37 11 61081956 61081956 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001923.3 -1 validated p.I471 1.000 60 0% 22 40.9% 179 41.8% - - - NULL PPP1R32 220004 genome.wustl.edu 37 11 61252177 61252177 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145017.2 +1 validated p.F133 0.504 22 0% 20 55% 0 - - - - NULL INCENP 3619 genome.wustl.edu 37 11 61897923 61897923 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040694.1 +1 validated p.I308 0.006 33 0% 12 66.7% 29 55.1% - - - NULL SCGB2A1 4246 genome.wustl.edu 37 11 61977971 61977971 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002407.2 +1 validated p.E48* 0.000 130 0% 84 42.9% 276 19.9% - - - HMMPfam_Uteroglobin,superfamily_Secretoglobin AHNAK 79026 genome.wustl.edu 37 11 62288188 62288188 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001620.1 -1 validated p.I4567 0.062 135 0% 123 38.2% 49 53% - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62296599 62296599 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001620.1 -1 validated p.L1764V 0.000 102 0% 157 47.8% 13 30.7% possibly_damaging(0.882) tolerated(0.31) neutral(0.371) NULL AHNAK 79026 genome.wustl.edu 37 11 62299839 62299839 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001620.1 -1 validated p.D684N 0.001 139 0% 201 46.3% 7 57.1% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) NULL GANAB 23193 genome.wustl.edu 37 11 62398178 62398178 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198335.2 -1 validated p.W449* 1.000 122 0% 56 39.3% 187 10.6% - - - HMMPfam_Glyco_hydro_31 UBXN1 51035 genome.wustl.edu 37 11 62445741 62445741 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000436354 -1 known p.K120 0.014 200 0% 166 14.5% 0 - - - - NULL TTC9C 283237 genome.wustl.edu 37 11 62502898 62502898 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173810.3 +1 provisional p.E95* 1.000 43 0% 74 39.2% 19 26.3% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like WDR74 54663 genome.wustl.edu 37 11 62600449 62600449 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018093.2 -1 validated p.K378T 0.033 132 0% 89 34.8% 31 64.5% benign(0.042) deleterious(0.02) neutral(0.386) NULL CHRM1 1128 genome.wustl.edu 37 11 62678424 62678424 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000738.2 -1 reviewed p.F50C 1.000 250 0% 99 47.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC22A8 9376 genome.wustl.edu 37 11 62760913 62760913 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000311438 -1 known p.S500L 0.014 267 0.4% 54 53.7% 0 - - - - NULL SLC22A25 387601 genome.wustl.edu 37 11 62984929 62984929 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199352.3 -1 validated p.F229L 0.000 314 0% 42 42.9% 0 - benign(0.008) tolerated(0.74) neutral(0.002) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A10 387775 genome.wustl.edu 37 11 63069800 63069800 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039752.3 +1 validated e7-1 0.594 419 0% 66 40.9% 0 - - - - - SLC22A9 114571 genome.wustl.edu 37 11 63176281 63176281 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080866.2 +1 validated p.F511V 0.003 351 0% 75 42.7% 0 - benign(0.051) deleterious(0.02) neutral(0.386) superfamily_MFS general substrate transporter HRASLS5 117245 genome.wustl.edu 37 11 63233626 63233626 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_054108.3 -1 validated p.H235Y 1.000 281 0% 64 35.9% 0 - possibly_damaging(0.8) deleterious(0.02) deleterious(0.684) HMMPfam_NC RTN3 10313 genome.wustl.edu 37 11 63487586 63487586 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201428.1 +1 validated p.E519* 0.160 54 0% 94 41.5% 1 100% - - - NULL C11orf84 144097 genome.wustl.edu 37 11 63585755 63585755 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138471.1 +1 predicted p.I175 0.571 64 0% 39 38.5% 74 48.6% - - - NULL SLC22A12 116085 genome.wustl.edu 37 11 64361012 64361012 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144585.2 +1 reviewed p.M214I 0.953 46 0% 32 43.8% 0 - benign(0.023) tolerated(0.65) neutral(0.004) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A12 116085 genome.wustl.edu 37 11 64366311 64366311 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144585.2 +1 reviewed p.S329N 0.006 9 0.000 8 0.625 0 - benign(0.002) tolerated(0.2) neutral(0.049) HMMPfam_MFS_1,superfamily_MFS general substrate transporter NRXN2 9379 genome.wustl.edu 37 11 64428231 64428231 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015080.2 -1 reviewed p.E727* 1.000 19 0% 18 44.4% 0 - - - - HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases ZFPL1 7542 genome.wustl.edu 37 11 64852222 64852222 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006782.3 +1 validated p.E18K 1.000 62 0% 34 26.5% 102 36.2% benign(0.33) tolerated(0.06) neutral(0.426) NULL DPF2 5977 genome.wustl.edu 37 11 65101375 65101375 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006268.3 +1 reviewed p.E6D 1.000 166 0% 190 44.7% 21 28.5% benign(0.002) tolerated(0.06) neutral(0.323) NULL EHBP1L1 254102 genome.wustl.edu 37 11 65343872 65343872 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099409.1 +1 validated p.K33N 1.000 8 0.000 17 0.588 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNX32 254122 genome.wustl.edu 37 11 65620387 65620387 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152760.2 +1 validated p.K372N 1.000 102 0% 71 38% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Vps5 YIF1A 10897 genome.wustl.edu 37 11 66055717 66055717 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020470.2 -1 validated p.F26 1.000 12 0% 17 41.2% 58 48.2% - - - NULL BRMS1 25855 genome.wustl.edu 37 11 66109021 66109021 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024957.1 -1 reviewed p.F71L 1.000 108 0% 84 33.3% 137 42.3% possibly_damaging(0.942) deleterious(0) deleterious(0.832) HMMPfam_Sds3 DPP3 10072 genome.wustl.edu 37 11 66259218 66259218 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005700.3 +1 reviewed p.E327* 1.000 55 0% 69 43.5% 28 21.4% - - - HMMPfam_Peptidase_M49 DPP3 10072 genome.wustl.edu 37 11 66262733 66262733 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005700.3 +1 reviewed p.G482 0.999 62 0% 42 26.2% 31 74.1% - - - HMMPfam_Peptidase_M49 ACTN3 89 genome.wustl.edu 37 11 66318530 66318530 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000511191 +1 known p.E52K 0.027 14 0% 15 66.7% 0 - unknown(0) - - NULL RBM14 10432 genome.wustl.edu 37 11 66392422 66392422 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006328.3 +1 validated p.R359S 1.000 56 0% 31 38.7% 31 41.9% probably_damaging(0.985) tolerated(0.72) neutral(0.433) NULL C11orf80 79703 genome.wustl.edu 37 11 66583569 66583569 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024650.3 +1 validated p.E412G 0.000 309 0% 212 41.5% 8 37.5% possibly_damaging(0.615) deleterious(0) deleterious(0.658) NULL C11orf72 100505621 genome.wustl.edu 37 11 67372402 67372402 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000333139 -1 known p.L47I 0.000 87 0% 102 41.2% 0 - unknown(0) - - NULL ENSG00000206587 0 genome.wustl.edu 37 11 67663167 67663167 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000383860 +1 novel NULL 0.000 335 0% 162 32.1% 0 - - - - - SUV420H1 51111 genome.wustl.edu 37 11 67939171 67939171 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017635.3 -1 reviewed p.R220Q 1.000 99 0% 111 41.4% 11 36.3% probably_damaging(0.986) tolerated(0.13) deleterious(0.687) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain CCND1 595 genome.wustl.edu 37 11 69458697 69458697 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053056.2 +1 reviewed p.A171V 0.005 15 0% 36 44.4% 100 44% benign(0.023) tolerated(0.33) neutral(0.025) HMMPfam_Cyclin_C,superfamily_Cyclin-like ANO1 55107 genome.wustl.edu 37 11 69978032 69978032 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018043.5 +1 validated p.M369L 1.000 51 0% 33 45.5% 1 0% benign(0.122) deleterious(0.03) neutral(0.374) NULL ANO1 55107 genome.wustl.edu 37 11 69999166 69999166 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018043.5 +1 validated p.H453N 1.000 31 0% 74 44.6% 3 0% probably_damaging(0.963) tolerated(0.13) deleterious(0.658) NULL PPFIA1 8500 genome.wustl.edu 37 11 70183486 70183486 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003626.2 +1 reviewed p.E482* 0.999 125 0% 250 14% 14 7.1% - - - NULL PPFIA1 8500 genome.wustl.edu 37 11 70222663 70222663 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003626.2 +1 reviewed p.F1114C 1.000 159 0% 355 45.4% 30 53.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 DHCR7 1717 genome.wustl.edu 37 11 71150111 71150111 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001360.2 -1 reviewed p.F215L 1.000 46 0% 96 51% 37 56.7% benign(0.006) tolerated(0.1) neutral(0.286) HMMPfam_ERG4_ERG24,PatternScan_STEROL_REDUCT_1 KRTAP5-7 440050 genome.wustl.edu 37 11 71238594 71238594 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012503.1 +1 validated p.S83Y 0.832 196 0% 90 46.7% 0 - unknown(0) tolerated(0.32) - NULL KRTAP5-11 440051 genome.wustl.edu 37 11 71293648 71293648 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005405.2 -1 validated p.S79Y 0.611 292 0% 154 46.8% 0 - unknown(0) tolerated(0.14) - NULL ENSG00000187811 0 genome.wustl.edu 37 11 71316597 71316597 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000343767 -1 known p.R14C 0.100 39 0% 26 38.5% 0 - unknown(0) - - NULL LOC100131539 100131539 genome.wustl.edu 37 11 71527731 71527731 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001723234.2 -1 model p.R244* 0.001 95 0% 191 41.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100131539 100131539 genome.wustl.edu 37 11 71527935 71527935 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001723234.2 -1 model p.L176I 0.000 118 0.8% 210 49% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100131539 100131539 genome.wustl.edu 37 11 71528140 71528140 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001723234.2 -1 model p.E107 0.014 159 0% 247 34% 0 - - - - NULL ENSG00000251143 0 genome.wustl.edu 37 11 71728894 71728894 + RNA SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000502284 +1 known NULL 0.000 28 0% 30 50% 0 - - - - - NUMA1 4926 genome.wustl.edu 37 11 71734114 71734114 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006185.2 -1 validated p.A96 1.000 72 0% 67 56.7% 65 41.5% - - - NULL CLPB 81570 genome.wustl.edu 37 11 72141378 72141378 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030813.3 -1 provisional p.N145D 1.000 161 0% 31 38.7% 13 69.2% possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PDE2A 5138 genome.wustl.edu 37 11 72294556 72294556 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002599.3 -1 validated p.L552I 1.000 99 0% 191 41.4% 0 - benign(0.078) tolerated(0.48) neutral(0.016) HMMSmart_SM00065,superfamily_GAF domain-like P2RY2 5029 genome.wustl.edu 37 11 72945327 72945327 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002564.2 +1 reviewed p.G41 0.641 286 0.3% 91 59.3% 1 0% - - - superfamily_Family A G protein-coupled receptor-like P2RY6 5031 genome.wustl.edu 37 11 73007730 73007730 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004154.3 +1 reviewed p.R56Q 0.996 108 0% 57 38.6% 0 - possibly_damaging(0.801) deleterious(0.02) deleterious(0.684) HMMPfam_7tm_1,superfamily_SSF81321 PAAF1 80227 genome.wustl.edu 37 11 73610259 73610259 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025155.1 +1 provisional p.K117N 0.994 96 0% 134 46.3% 21 23.8% probably_damaging(0.958) deleterious(0.03) deleterious(0.766) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 UCP3 7352 genome.wustl.edu 37 11 73717278 73717278 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003356.3 -1 reviewed p.F91 1.000 39 0% 21 61.9% 0 - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr C2CD3 26005 genome.wustl.edu 37 11 73814307 73814307 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015531.4 -1 validated p.F817V 1.000 642 0% 137 45.3% 8 37.5% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) C2CD3 26005 genome.wustl.edu 37 11 73872602 73872602 + Splice_Site SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015531.4 -1 validated e3-1 1.000 185 0% 79 44.3% 1 100% - - - - P4HA3 283208 genome.wustl.edu 37 11 74015447 74015447 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182904.3 -1 reviewed p.K71E 1.000 128 0.8% 58 53.4% 1 0% benign(0.244) tolerated(0.89) neutral(0.025) HMMPfam_P4Ha_N PGM2L1 283209 genome.wustl.edu 37 11 74058371 74058371 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173582.3 -1 validated p.S254L 1.000 100 0% 58 48.3% 14 78.5% benign(0) tolerated(0.25) neutral(0.037) HMMPfam_PGM_PMM_II,superfamily_Phosphoglucomutase first 3 domains OR2AT4 341152 genome.wustl.edu 37 11 74799969 74799969 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005285.1 -1 provisional p.Y264D 0.963 110 0% 52 38.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2AT4 341152 genome.wustl.edu 37 11 74800404 74800404 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005285.1 -1 provisional p.I119V 0.999 242 0.4% 88 42% 0 - benign(0.011) deleterious(0) neutral(0.445) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like GDPD5 81544 genome.wustl.edu 37 11 75160073 75160073 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030792.6 -1 validated p.K221N 0.939 65 0% 89 42.7% 0 - probably_damaging(0.965) tolerated(0.15) deleterious(0.648) NULL PRKRIR 5612 genome.wustl.edu 37 11 76063016 76063016 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004705.2 -1 provisional p.R393Q 0.887 67 0% 69 44.9% 49 36.7% benign(0.001) tolerated(0.55) neutral(0.007) NULL C11orf30 56946 genome.wustl.edu 37 11 76239458 76239458 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020193.3 +1 validated p.Q714 0.867 174 0% 69 55.1% 9 33.3% - - - NULL ACER3 55331 genome.wustl.edu 37 11 76696756 76696756 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018367.5 +1 validated p.L130 1.000 105 0% 146 50.7% 3 33.3% - - - HMMPfam_aPHC CAPN5 726 genome.wustl.edu 37 11 76830085 76830085 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004055.4 +1 reviewed p.E393K 1.000 72 0% 37 48.6% 5 20% benign(0) tolerated(0.07) neutral(0.319) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 MYO7A 4647 genome.wustl.edu 37 11 76873340 76873340 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000260.3 +1 reviewed p.I506 1.000 121 0% 62 32.3% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7A 4647 genome.wustl.edu 37 11 76917233 76917233 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000260.3 +1 reviewed p.D1910Y 1.000 156 0% 59 47.5% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00295 AQP11 282679 genome.wustl.edu 37 11 77301312 77301312 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173039.1 +1 provisional p.T92I 1.000 34 0% 17 41.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MIP USP35 57558 genome.wustl.edu 37 11 77924770 77924770 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020798.2 +1 provisional p.D990Y 1.000 122 0% 46 47.8% 10 50% unknown(0) tolerated(0.16) - NULL NARS2 79731 genome.wustl.edu 37 11 78270643 78270643 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024678.4 -1 validated p.H179R 1.000 191 0% 97 36.1% 16 43.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases ODZ4 26011 genome.wustl.edu 37 11 78369855 78369855 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098816.2 -1 validated p.L2520I 1.000 60 0% 36 52.8% 3 0% probably_damaging(0.998) tolerated(0.27) deleterious(0.508) NULL ODZ4 26011 genome.wustl.edu 37 11 78423709 78423709 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098816.2 -1 validated p.A1291V 0.983 118 0% 46 30.4% 0 - benign(0.017) tolerated(0.38) neutral(0.018) superfamily_SSF101898,superfamily_TolB_C PCF11 51585 genome.wustl.edu 37 11 82882929 82882929 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015885.3 +1 validated p.N1244H 1.000 193 0% 213 53.1% 21 57.1% possibly_damaging(0.852) tolerated(0.05) deleterious(0.673) NULL ANKRD42 338699 genome.wustl.edu 37 11 82938846 82938846 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182603.2 +1 validated p.K254T 1.000 320 0% 108 45.4% 2 50% probably_damaging(0.997) tolerated(0.75) neutral(0.468) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CCDC90B 60492 genome.wustl.edu 37 11 82984874 82984874 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021825.3 -1 provisional p.L168 0.999 201 0% 202 44.6% 73 43.8% - - - HMMPfam_DUF1640 DLG2 1740 genome.wustl.edu 37 11 83243758 83243758 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142699.1 -1 reviewed p.S729L 1.000 304 0% 74 32.4% 2 100% benign(0.102) deleterious(0.05) neutral(0.353) superfamily_SH3-domain SYTL2 54843 genome.wustl.edu 37 11 85435303 85435303 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206927.2 -1 reviewed p.E733* 0.000 142 0% 92 46.7% 1 100% - - - NULL EED 8726 genome.wustl.edu 37 11 85979586 85979586 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003797.2 +1 reviewed p.D317N 1.000 449 0.2% 238 40.8% 14 14.2% benign(0.07) tolerated(0.28) neutral(0.036) HMMSmart_SM00320,superfamily_WD40 repeat-like EED 8726 genome.wustl.edu 37 11 85989562 85989562 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003797.2 +1 reviewed p.R441* 1.000 178 0% 48 35.4% 20 45% - - - NULL C11orf73 51501 genome.wustl.edu 37 11 86048484 86048484 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016401.3 +1 validated p.I111S 1.000 401 0% 119 12.6% 85 9.4% probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_DUF775 CCDC81 60494 genome.wustl.edu 37 11 86119194 86119194 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021827.4 +1 validated p.R242Q 1.000 182 0% 99 51.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ME3 10873 genome.wustl.edu 37 11 86176232 86176232 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014811.1 -1 reviewed p.N274H 1.000 454 0% 111 40.5% 17 35.2% possibly_damaging(0.886) tolerated(0.14) deleterious(0.596) HMMPfam_malic,superfamily_SSF53223 ME3 10873 genome.wustl.edu 37 11 86270833 86270833 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014811.1 -1 reviewed p.Q72 1.000 135 1.5% 21 47.6% 7 28.5% - - - superfamily_SSF53223 TMEM135 65084 genome.wustl.edu 37 11 87029263 87029263 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022918.3 +1 validated p.I388F 1.000 230 0% 74 40.5% 7 28.5% possibly_damaging(0.492) deleterious(0.01) deleterious(0.570) NULL GRM5 2915 genome.wustl.edu 37 11 88301131 88301131 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143831.2 -1 reviewed p.R574* 0.973 77 0% 20 55% 0 - - - - NULL GRM5 2915 genome.wustl.edu 37 11 88780838 88780838 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143831.2 -1 reviewed p.R68I 1.000 156 0% 41 26.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I TRIM77P 390231 genome.wustl.edu 37 11 89443701 89443701 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343107.1 +1 model p.E79* 0.000 104 0% 39 61.5% 0 - - - - NULL ENSG00000234376 0 genome.wustl.edu 37 11 89486949 89486949 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000411859 -1 known p.E62D 0.998 205 0% 214 35% 0 - - - - NULL TRIM77P 390231 genome.wustl.edu 37 11 89515316 89515316 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000398290 +1 known p.R376I 0.001 234 0% 266 27.1% 0 - - - - HMMPfam_SPRY ENSG00000204455 0 genome.wustl.edu 37 11 89595877 89595877 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000311917 +1 known p.F403C 0.000 103 0% 198 26.3% 0 - - - - HMMPfam_SPRY TRIM64B 642446 genome.wustl.edu 37 11 89603862 89603862 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000329862 -1 known p.S426Y 0.079 323 0% 386 22.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPRY TRIM64B 642446 genome.wustl.edu 37 11 89609147 89609147 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000329862 -1 known p.L13 0.119 119 0% 85 17.6% 0 - - - - superfamily_SSF57850 ENSG00000223709 0 genome.wustl.edu 37 11 89790999 89790999 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000436580 -1 known p.R373I 0.001 101 0% 140 73.6% 0 - - - - HMMPfam_SPRY,HMMSmart_SM00449 UBTFL1 642623 genome.wustl.edu 37 11 89819594 89819594 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143975.1 +1 provisional p.E159 0.013 133 0% 147 52.4% 0 - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box UBTFL1 642623 genome.wustl.edu 37 11 89819728 89819728 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143975.1 +1 provisional p.S204Y 0.267 112 0% 111 45.9% 0 - - - - NULL FAT3 120114 genome.wustl.edu 37 11 92086978 92086978 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008781.2 +1 validated p.R567Q 0.090 73 0% 23 60.9% 0 - benign(0.051) tolerated(0.54) neutral(0.010) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92430607 92430607 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008781.2 +1 validated p.L1222P 1.000 173 0% 76 48.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92495264 92495264 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008781.2 +1 validated p.F1304L 1.000 246 0% 53 34% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92498146 92498146 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008781.2 +1 validated p.F1362 0.980 422 0% 127 48.8% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92543156 92543156 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008781.2 +1 validated p.S3132Y 0.999 96 0% 31 54.8% 0 - possibly_damaging(0.952) deleterious(0.03) deleterious(0.760) superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92592376 92592376 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008781.2 +1 validated p.R3849Q 1.000 232 0% 153 39.2% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_Concanavalin A-like lectins/glucanases FAT3 120114 genome.wustl.edu 37 11 92620228 92620228 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008781.2 +1 validated p.S4334T 1.000 148 0% 66 50% 0 - probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL FAT3 120114 genome.wustl.edu 37 11 92623913 92623913 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008781.2 +1 validated p.P4436 0.913 66 0% 19 52.6% 0 - - - - NULL SLC36A4 120103 genome.wustl.edu 37 11 92881798 92881798 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152313.2 -1 provisional p.E474* 1.000 93 0% 14 35.7% 45 46.6% - - - NULL SLC36A4 120103 genome.wustl.edu 37 11 92901214 92901214 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152313.2 -1 provisional p.L222I 1.000 131 0.8% 49 32.7% 37 43.2% probably_damaging(0.978) tolerated(0.11) deleterious(0.692) HMMPfam_Aa_trans CCDC67 159989 genome.wustl.edu 37 11 93090126 93090126 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181645.3 +1 validated p.R72* 1.000 83 0% 84 44% 2 0% - - - NULL CCDC67 159989 genome.wustl.edu 37 11 93103303 93103303 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181645.3 +1 validated p.S166Y 1.000 155 0% 139 41% 1 0% benign(0.378) tolerated(0.36) neutral(0.140) NULL CCDC67 159989 genome.wustl.edu 37 11 93148236 93148236 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181645.3 +1 validated p.E532* 0.997 541 0% 217 44.7% 2 0% - - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93400883 93400883 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033395.1 +1 validated p.E73D 1.000 54 0% 52 53.8% 1 0% possibly_damaging(0.741) deleterious(0.03) deleterious(0.636) NULL KIAA1731 85459 genome.wustl.edu 37 11 93433168 93433168 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033395.1 +1 validated p.F1697C 0.039 136 0% 128 43.8% 6 16.6% probably_damaging(0.989) tolerated(0.15) deleterious(0.680) NULL KIAA1731 85459 genome.wustl.edu 37 11 93463303 93463303 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033395.1 +1 validated p.E2586* 1.000 129 0% 94 45.7% 16 56.2% - - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93463415 93463415 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033395.1 +1 validated p.R2596* 1.000 160 0% 96 50% 29 55.1% - - - NULL MED17 9440 genome.wustl.edu 37 11 93535033 93535033 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004268.4 +1 reviewed p.R454Q 1.000 88 0% 97 47.4% 44 40.9% benign(0.186) tolerated(0.31) neutral(0.044) HMMPfam_DUF2364 MRE11A 4361 genome.wustl.edu 37 11 94180528 94180528 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005591.3 -1 reviewed p.S547I 0.501 277 0% 50 38% 32 40.6% benign(0.152) tolerated(0.18) neutral(0.070) NULL MRE11A 4361 genome.wustl.edu 37 11 94180586 94180586 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005591.3 -1 reviewed p.A528T 1.000 183 0% 45 46.7% 24 41.6% benign(0.103) tolerated(0.09) neutral(0.304) NULL PIWIL4 143689 genome.wustl.edu 37 11 94308223 94308223 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152431.2 +1 validated p.K75N 0.000 284 0% 221 46.6% 0 - benign(0.005) tolerated(0.57) neutral(0.006) NULL PIWIL4 143689 genome.wustl.edu 37 11 94320235 94320235 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152431.2 +1 validated p.F246L 0.992 347 0% 92 47.8% 0 - possibly_damaging(0.481) tolerated(0.16) neutral(0.219) superfamily_PAZ domain PIWIL4 143689 genome.wustl.edu 37 11 94352990 94352990 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152431.2 +1 validated p.R745C 0.098 364 0% 76 48.7% 1 0% probably_damaging(0.974) tolerated(0.05) deleterious(0.761) HMMPfam_Piwi,superfamily_Ribonuclease H-like AMOTL1 154810 genome.wustl.edu 37 11 94583289 94583289 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130847.2 +1 reviewed p.F553L 0.999 62 0% 31 45.2% 14 42.8% benign(0.111) tolerated(0.69) neutral(0.011) NULL KDM4D 55693 genome.wustl.edu 37 11 94730615 94730615 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018039.2 +1 validated p.E27* 1.000 126 0% 70 41.4% 0 - - - - HMMPfam_JmjN JRKL 8690 genome.wustl.edu 37 11 96123952 96123952 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003772.3 +1 reviewed p.K47Q 0.997 41 0% 76 48.7% 15 53.3% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_CENP-B_N,superfamily_Homeodomain_like CNTN5 53942 genome.wustl.edu 37 11 100170017 100170017 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014361.2 +1 reviewed p.R837* 0.998 128 0% 35 57.1% 2 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CNTN5 53942 genome.wustl.edu 37 11 100211295 100211295 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014361.2 +1 reviewed p.T944M 0.840 213 0% 30 20% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III KIAA1377 57562 genome.wustl.edu 37 11 101793457 101793457 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020802.2 +1 validated p.R72C 1.000 76 0% 136 50% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1377 57562 genome.wustl.edu 37 11 101793481 101793481 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020802.2 +1 validated p.R80W 0.999 71 0% 132 30.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BIRC2 329 genome.wustl.edu 37 11 102248382 102248382 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001166.3 +1 reviewed p.E508* 1.000 132 0% 120 42.5% 34 35.2% - - - HMMPfam_CARD,HMMSmart_CARD,superfamily_DEATH_like,superfamily_SSF57924 BIRC2 329 genome.wustl.edu 37 11 102248796 102248796 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001166.3 +1 reviewed p.S580Y 1.000 242 0% 209 43.1% 31 58% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57924 MMP8 4317 genome.wustl.edu 37 11 102584175 102584175 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002424.2 -1 reviewed p.V436 1.000 183 0% 64 39.1% 0 - - - - superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX MMP1 4312 genome.wustl.edu 37 11 102661239 102661239 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002421.3 -1 reviewed p.F438 1.000 255 0% 140 47.9% 4 0% - - - superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX MMP12 4321 genome.wustl.edu 37 11 102737126 102737126 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000326227 -1 known p.S322Y 0.903 134 0% 59 45.8% 53 0% - - - superfamily_Hemopexin-like domain,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_SM00120 DYNC2H1 79659 genome.wustl.edu 37 11 102984412 102984412 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080463.1 +1 reviewed p.Q114 0.990 137 0% 119 46.2% 0 - - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 102992120 102992120 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080463.1 +1 reviewed p.E460D 0.956 119 0% 54 51.9% 0 - benign(0) tolerated(0.71) neutral(0.002) HMMPfam_DHC_N1 DYNC2H1 79659 genome.wustl.edu 37 11 103006507 103006507 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080463.1 +1 reviewed p.E802* 1.000 170 0% 88 37.5% 0 - - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 103024093 103024093 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080463.1 +1 reviewed p.K1053T 1.000 81 0% 26 53.8% 1 100% probably_damaging(0.976) tolerated(0.09) deleterious(0.714) NULL CASP5 838 genome.wustl.edu 37 11 104874045 104874045 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136112.1 -1 reviewed p.P180T 0.971 212 0% 72 47.2% 0 - possibly_damaging(0.863) deleterious(0.02) deleterious(0.717) NULL CASP5 838 genome.wustl.edu 37 11 104877884 104877884 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136112.1 -1 reviewed p.R133Q 0.000 355 0% 74 35.1% 0 - probably_damaging(0.997) tolerated(0.18) deleterious(0.522) HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain CASP5 838 genome.wustl.edu 37 11 104877943 104877943 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136112.1 -1 reviewed p.K113N 0.000 288 0% 84 39.3% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain GRIA4 2893 genome.wustl.edu 37 11 105483026 105483026 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000829.3 +1 reviewed p.D38Y 1.000 166 0% 78 42.3% 0 - possibly_damaging(0.795) deleterious(0.05) deleterious(0.644) superfamily_SSF53822 GRIA4 2893 genome.wustl.edu 37 11 105732916 105732916 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000829.3 +1 reviewed p.L218 1.000 86 0% 34 41.2% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 CWF19L2 143884 genome.wustl.edu 37 11 107299925 107299925 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152434.2 -1 validated p.E345* 0.803 213 0% 142 47.2% 5 0% - - - NULL ALKBH8 91801 genome.wustl.edu 37 11 107393166 107393166 + Silent SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138775.2 -1 validated p.I382 0.932 206 0% 48 45.8% 1 100% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases ELMOD1 55531 genome.wustl.edu 37 11 107526740 107526740 + Missense_Mutation SNP C C A rs190625125 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018712.3 +1 validated p.F260L 1.000 131 0% 181 39.2% 0 - benign(0.006) tolerated(0.56) neutral(0.006) HMMPfam_ELMO_CED12 RAB39A 54734 genome.wustl.edu 37 11 107832985 107832985 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017516.1 +1 provisional p.K181Q 0.996 81 0% 100 34% 0 - benign(0.058) tolerated(0.19) neutral(0.053) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases CUL5 8065 genome.wustl.edu 37 11 107966366 107966366 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003478.3 +1 validated p.N618T 1.000 185 0% 127 41.7% 26 57.6% probably_damaging(1) tolerated(0.84) deleterious(0.500) HMMPfam_Cullin,superfamily_Cullin homology domain ACAT1 38 genome.wustl.edu 37 11 108004962 108004962 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000019.3 +1 reviewed p.E85* 1.000 54 0% 102 43.1% 33 0% - - - HMMPfam_Thiolase_N,superfamily_Thiolase-like ATM 472 genome.wustl.edu 37 11 108121653 108121653 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000051.3 +1 reviewed p.I487M 1.000 132 0% 117 44.4% 2 50% possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108190752 108190752 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000051.3 +1 reviewed p.F2140C 1.000 103 0% 126 45.2% 3 100% probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_FAT,superfamily_ARM repeat EXPH5 23086 genome.wustl.edu 37 11 108380999 108380999 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015065.2 -1 validated p.F1745L 0.008 60 0% 45 42.2% 0 - benign(0.073) tolerated(1) neutral(0.005) NULL EXPH5 23086 genome.wustl.edu 37 11 108382139 108382139 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015065.2 -1 validated p.E1365D 0.000 69 0% 131 45% 7 57.1% possibly_damaging(0.907) deleterious(0) deleterious(0.805) NULL DDX10 1662 genome.wustl.edu 37 11 108577485 108577485 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004398.2 +1 reviewed p.A415T 0.982 388 0% 124 43.5% 17 64.7% benign(0.358) deleterious(0.03) deleterious(0.478) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX10 1662 genome.wustl.edu 37 11 108593923 108593923 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004398.2 +1 reviewed p.E567K 0.050 316 0% 75 44% 46 56.5% benign(0) tolerated(0.76) neutral(0.001) NULL DDX10 1662 genome.wustl.edu 37 11 108709276 108709276 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004398.2 +1 reviewed p.F690C 1.000 93 0% 100 42% 26 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RDX 5962 genome.wustl.edu 37 11 110106899 110106899 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002906.3 -1 reviewed p.E423D 1.000 223 0% 210 49% 39 23% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_ERM RDX 5962 genome.wustl.edu 37 11 110128868 110128868 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002906.3 -1 reviewed p.I172L 1.000 348 0% 466 43.3% 30 73.3% possibly_damaging(0.598) deleterious(0) deleterious(0.651) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 RDX 5962 genome.wustl.edu 37 11 110143261 110143261 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002906.3 -1 reviewed p.Q32 1.000 171 0% 77 51.9% 12 25% benign(0) deleterious(0.03) neutral(0.364) HMMPfam_FERM_N,HMMSmart_SM00295,superfamily_Ubiquitin-like ARHGAP20 57569 genome.wustl.edu 37 11 110451614 110451614 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020809.2 -1 validated p.L686 0.737 90 0% 47 46.8% 0 - - - - NULL ARHGAP20 57569 genome.wustl.edu 37 11 110457040 110457040 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020809.2 -1 validated p.R439* 0.999 32 0% 57 50.9% 0 - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP20 57569 genome.wustl.edu 37 11 110461422 110461422 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020809.2 -1 validated p.E419K 0.753 204 0% 120 39.2% 0 - benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP C11orf93 120376 genome.wustl.edu 37 11 111177328 111177328 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136105.1 +1 predicted p.F26V 0.997 138 0% 104 14.4% 1 0% possibly_damaging(0.919) deleterious(0) deleterious(0.814) NULL LAYN 143903 genome.wustl.edu 37 11 111431011 111431011 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178834.3 +1 provisional p.D318G 0.001 261 0% 92 48.9% 5 0% benign(0.117) tolerated(0.51) neutral(0.018) NULL ALG9 79796 genome.wustl.edu 37 11 111708318 111708318 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024740.2 -1 reviewed p.L449 1.000 335 0% 156 40.4% 45 44.4% - - - HMMPfam_Glyco_transf_22 C11orf1 64776 genome.wustl.edu 37 11 111753192 111753192 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022761.2 +1 validated p.K49T 1.000 148 0% 69 42% 37 51.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1143 DIXDC1 85458 genome.wustl.edu 37 11 111845650 111845650 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000440460 +1 known p.A200V 0.998 147 0% 56 33.9% 4 25% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL DIXDC1 85458 genome.wustl.edu 37 11 111853173 111853173 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000440460 +1 known p.E293* 1.000 161 0% 161 39.8% 0 - - - - NULL C11orf57 55216 genome.wustl.edu 37 11 111951196 111951196 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001082969.1 +1 validated p.E78D 0.982 162 0% 96 10.4% 26 15.3% benign(0.195) tolerated(0.26) neutral(0.053) NULL C11orf57 55216 genome.wustl.edu 37 11 111953279 111953279 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001082969.1 +1 validated p.K155N 1.000 152 0% 168 44.6% 13 61.5% unknown(0) deleterious(0) - NULL IL18 3606 genome.wustl.edu 37 11 112014350 112014350 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001562.2 -1 reviewed p.S184Y 0.025 130 0.8% 103 44.7% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_IL1,HMMSmart_IL1,superfamily_Cytok_IL1_like BCO2 83875 genome.wustl.edu 37 11 112085727 112085727 + Nonstop_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000430950 +1 known p.*352Y 0.005 64 0% 106 38.7% 0 - - - - NULL TTC12 54970 genome.wustl.edu 37 11 113211429 113211429 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017868.3 +1 validated p.I290 1.000 262 0.4% 124 10.5% 20 0% - - - superfamily_ARM-type_fold ANKK1 255239 genome.wustl.edu 37 11 113265662 113265662 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178510.1 +1 reviewed p.F164 0.990 89 0% 46 45.7% 0 - - - - superfamily_Kinase_like,HMMPfam_Pkinase DRD2 1813 genome.wustl.edu 37 11 113287600 113287600 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000795.3 -1 reviewed p.G173R 1.000 176 0% 40 45% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZW10 9183 genome.wustl.edu 37 11 113604447 113604447 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004724.2 -1 reviewed p.R770I 1.000 160 0% 53 50.9% 44 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP28 57646 genome.wustl.edu 37 11 113673913 113673913 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020886.2 -1 validated p.S943 0.009 40 0% 22 45.5% 10 40% - - - NULL HTR3A 3359 genome.wustl.edu 37 11 113853885 113853885 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_213621.3 +1 reviewed p.R140W 0.000 312 0% 92 47.8% 0 - possibly_damaging(0.912) deleterious(0.02) deleterious(0.746) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD ZBTB16 7704 genome.wustl.edu 37 11 113934436 113934436 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001018011.1 +1 reviewed p.A138 0.000 27 0% 26 53.8% 0 - - - - NULL NNMT 4837 genome.wustl.edu 37 11 114168752 114168752 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006169.2 +1 reviewed p.F78 0.996 335 0% 60 43.3% 39 0% - - - HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases FAM55B 120406 genome.wustl.edu 37 11 114568901 114568901 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182495.5 +1 validated p.E89D 0.000 910 0.1% 166 44% 0 - possibly_damaging(0.736) tolerated(0.21) neutral(0.313) NULL FAM55B 120406 genome.wustl.edu 37 11 114569315 114569315 + Silent SNP C C A rs76533108 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182495.5 +1 validated p.V227 0.010 353 0% 51 39.2% 0 - - - - NULL CADM1 23705 genome.wustl.edu 37 11 115047200 115047200 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014333.3 -1 validated p.F441L 1.000 562 0% 283 43.8% 68 35.2% possibly_damaging(0.885) tolerated(0.15) deleterious(0.587) NULL ZNF259 8882 genome.wustl.edu 37 11 116658264 116658264 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003904.3 -1 provisional p.E89D 1.000 34 0% 40 50% 50 44% possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) HMMPfam_zf-ZPR1,HMMSmart_Zpr1 SIDT2 51092 genome.wustl.edu 37 11 117052583 117052583 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040455.1 +1 validated p.K122N 1.000 90 0% 102 39.2% 13 15.3% benign(0.035) tolerated(0.45) neutral(0.014) NULL DSCAML1 57453 genome.wustl.edu 37 11 117303956 117303956 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020693.2 -1 provisional p.F1702V 1.000 285 0% 183 48.6% 0 - benign(0.007) tolerated(0.42) neutral(0.014) NULL DSCAML1 57453 genome.wustl.edu 37 11 117403225 117403225 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020693.2 -1 provisional p.F235C 1.000 132 0% 71 35.2% 0 - benign(0.372) tolerated(0.12) neutral(0.379) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IL10RA 3587 genome.wustl.edu 37 11 117859118 117859118 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001558.3 +1 reviewed p.P30L 0.007 128 0.8% 90 43.3% 1 100% possibly_damaging(0.895) tolerated(0.22) neutral(0.395) superfamily_Fibronectin type III,HMMPfam_IL10Ra-bind IL10RA 3587 genome.wustl.edu 37 11 117864743 117864743 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001558.3 +1 reviewed p.N189K 0.503 50 0% 77 27.3% 3 0% benign(0.013) tolerated(0.09) neutral(0.297) superfamily_Fibronectin type III,HMMPfam_IL10Ra-bind AMICA1 120425 genome.wustl.edu 37 11 118076650 118076650 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098526.1 -1 validated p.E161* 0.855 802 0% 135 50.4% 3 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CD3G 917 genome.wustl.edu 37 11 118220683 118220683 + Missense_Mutation SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000073.2 +1 reviewed p.R102T 0.996 99 0% 111 38.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Immunoglobulin MLL 4297 genome.wustl.edu 37 11 118342634 118342634 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005933.2 +1 validated p.K254Q 1.000 34 0% 26 53.8% 1 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL MLL 4297 genome.wustl.edu 37 11 118374685 118374685 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005933.2 +1 validated p.S2690Y 0.981 146 0% 82 46.3% 6 50% probably_damaging(0.991) - - NULL TREH 11181 genome.wustl.edu 37 11 118530498 118530498 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000264029 -1 known p.F426L 1.000 44 0% 28 42.9% 0 - benign(0.022) deleterious(0.02) neutral(0.384) HMMPfam_Trehalase,superfamily_Six-hairpin glycosidases HYOU1 10525 genome.wustl.edu 37 11 118916319 118916319 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130991.1 -1 reviewed p.N996D 0.998 100 0% 104 34.6% 314 46.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL DPAGT1 1798 genome.wustl.edu 37 11 118972310 118972310 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001382.3 -1 reviewed p.L19P 0.550 53 0% 32 12.5% 29 6.8% probably_damaging(0.976) deleterious(0.02) deleterious(0.801) NULL ABCG4 64137 genome.wustl.edu 37 11 119029287 119029287 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142505.1 +1 reviewed p.F396L 0.892 132 0% 54 50% 1 0% benign(0) tolerated(1) - HMMPfam_ABC2_membrane NLRX1 79671 genome.wustl.edu 37 11 119054618 119054618 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170722.1 +1 reviewed p.L899I 0.442 134 0% 58 36.2% 12 25% unknown(0) - - NULL CBL 867 genome.wustl.edu 37 11 119156200 119156200 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005188.2 +1 reviewed p.F622C 1.000 74 0% 49 49% 4 25% possibly_damaging(0.952) tolerated(0.13) deleterious(0.648) NULL RNF26 79102 genome.wustl.edu 37 11 119206726 119206726 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032015.3 +1 reviewed p.A298 0.791 14 0% 43 53.5% 46 58.6% - - - NULL C1QTNF5 114902 genome.wustl.edu 37 11 119210089 119210089 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015645.3 -1 reviewed p.S228 0.426 24 0% 65 55.4% 22 0% - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like MFRP 83552 genome.wustl.edu 37 11 119213710 119213710 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031433.2 -1 reviewed p.F376L 1.000 4 0.000 11 0.455 0 - possibly_damaging(0.539) tolerated(0.33) neutral(0.206) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain THY1 7070 genome.wustl.edu 37 11 119290876 119290876 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006288.3 -1 validated p.M86I 0.287 331 0% 148 39.9% 32 0% benign(0) tolerated(0.79) neutral(0.001) HMMSmart_SM00406,HMMPfam_ig,superfamily_Immunoglobulin PVRL1 5818 genome.wustl.edu 37 11 119549237 119549237 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002855.4 -1 reviewed p.D106 0.997 89 0% 36 27.8% 23 52.1% - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TRIM29 23650 genome.wustl.edu 37 11 120008154 120008154 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012101.3 -1 reviewed p.E196K 1.000 34 0% 20 40% 0 - unknown(0) - - NULL POU2F3 25833 genome.wustl.edu 37 11 120188024 120188024 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014352.2 +1 validated p.N408Y 1.000 436 0% 128 41.4% 0 - benign(0.286) deleterious(0.03) neutral(0.453) NULL GRIK4 2900 genome.wustl.edu 37 11 120838020 120838020 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014619.2 +1 reviewed p.H795N 1.000 163 0% 71 46.5% 0 - possibly_damaging(0.838) tolerated(0.41) neutral(0.335) HMMPfam_Lig_chan TECTA 7007 genome.wustl.edu 37 11 121000387 121000387 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005422.2 +1 reviewed p.S803L 0.978 203 0% 179 46.9% 0 - benign(0.027) tolerated(0.24) neutral(0.039) HMMPfam_VWD,HMMSmart_SM00216 TECTA 7007 genome.wustl.edu 37 11 121023684 121023684 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005422.2 +1 reviewed p.H1400 1.000 80 0% 21 38.1% 0 - - - - superfamily_Serine proterase inhibitors,HMMSmart_SM00181,HMMPfam_TIL SC5DL 6309 genome.wustl.edu 37 11 121174203 121174203 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024956.2 +1 reviewed p.V40A 0.996 408 0% 163 41.7% 25 28% benign(0.039) tolerated(0.07) neutral(0.321) NULL SORL1 6653 genome.wustl.edu 37 11 121424696 121424696 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003105.4 +1 reviewed p.D773Y 1.000 200 0.5% 42 42.9% 7 42.8% benign(0.007) deleterious(0.02) neutral(0.383) superfamily_YWTD domain CRTAM 56253 genome.wustl.edu 37 11 122726421 122726421 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019604.2 +1 validated p.F170C 0.023 158 0% 101 47.5% 0 - benign(0.059) tolerated(0.21) neutral(0.048) HMMPfam_C2-set_2,superfamily_Immunoglobulin C11orf63 79864 genome.wustl.edu 37 11 122817409 122817409 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024806.2 +1 validated p.R613I 0.285 94 0% 69 44.9% 1 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL GRAMD1B 57476 genome.wustl.edu 37 11 123476057 123476057 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020716.1 +1 validated p.E255D 1.000 411 0% 67 41.8% 0 - benign(0) tolerated(0.63) neutral(0.004) NULL TMEM225 338661 genome.wustl.edu 37 11 123755204 123755204 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013743.1 -1 provisional p.F107L 0.003 198 0% 73 41.1% 0 - possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL OR10S1 219873 genome.wustl.edu 37 11 123847714 123847714 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004474.1 -1 provisional p.V229I 0.000 73 0% 16 50% 0 - benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10G7 390265 genome.wustl.edu 37 11 123909113 123909113 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004463.1 -1 provisional p.F199C 0.694 548 0% 168 45.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 OR8G5 219865 genome.wustl.edu 37 11 124120570 124120570 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000341493 +1 known p.W50R 0.000 669 0.1% 32 37.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC100288845 100288845 genome.wustl.edu 37 11 124121105 124121105 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343133.1 -1 model p.M41V 0.388 582 0% 54 40.7% 0 - - - - NULL OR8G5 219865 genome.wustl.edu 37 11 124135379 124135379 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005198.1 +1 provisional p.I219 0.000 385 0% 126 37.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8D1 283159 genome.wustl.edu 37 11 124180396 124180396 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002917.1 -1 provisional p.K89N 0.000 206 0.5% 21 42.9% 0 - benign(0.358) tolerated(0.1) neutral(0.400) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8B3 390271 genome.wustl.edu 37 11 124266466 124266466 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005467.1 -1 provisional p.K261T 0.012 89 0% 55 40% 0 - benign(0.004) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8B3 390271 genome.wustl.edu 37 11 124267074 124267074 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005467.1 -1 provisional p.P58 0.993 373 0% 146 44.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ESAM 90952 genome.wustl.edu 37 11 124626510 124626510 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138961.2 -1 validated p.C126* 0.582 80 0% 120 45.8% 6 16.6% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 MSANTD2 79684 genome.wustl.edu 37 11 124637135 124637135 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024631.2 -1 validated p.S487 0.009 19 0% 78 44.9% 12 50% - - - NULL MSANTD2 79684 genome.wustl.edu 37 11 124644864 124644864 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000374979 -1 known p.R173C 1.000 19 0% 24 45.8% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ROBO3 64221 genome.wustl.edu 37 11 124748572 124748572 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022370.3 +1 reviewed p.R1138Q 0.006 217 0% 65 46.2% 1 0% benign(0.003) tolerated(0.16) neutral(0.059) NULL HEPN1 641654 genome.wustl.edu 37 11 124789818 124789818 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037558.2 +1 provisional p.D58N 0.000 131 0% 123 43.1% 1 0% benign(0.079) - - NULL HEPACAM 220296 genome.wustl.edu 37 11 124792339 124792339 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152722.4 -1 validated p.R298Q 0.835 91 0% 63 52.4% 0 - possibly_damaging(0.892) deleterious(0.03) deleterious(0.716) NULL CCDC15 80071 genome.wustl.edu 37 11 124875083 124875083 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025004.2 +1 validated p.K796Q 1.000 94 0% 43 41.9% 7 71.4% probably_damaging(0.954) tolerated(0.08) deleterious(0.698) NULL CCDC15 80071 genome.wustl.edu 37 11 124908497 124908497 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025004.2 +1 validated p.L861R 0.001 44 0% 43 37.2% 5 40% possibly_damaging(0.887) tolerated(0.21) neutral(0.391) NULL PKNOX2 63876 genome.wustl.edu 37 11 125281739 125281739 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022062.2 +1 validated p.S305F 1.000 259 0% 88 43.2% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like EI24 9538 genome.wustl.edu 37 11 125445202 125445202 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000343678 +1 known p.L29P 0.997 90 0% 87 39.1% 112 50% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL PATE4 399968 genome.wustl.edu 37 11 125708240 125708240 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144874.1 +1 validated p.K72T 0.001 103 0% 56 42.9% 0 - benign(0.224) tolerated(0.25) neutral(0.059) NULL PUS3 83480 genome.wustl.edu 37 11 125763942 125763942 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031307.3 -1 validated p.V395A 0.004 152 0% 146 44.5% 22 50% benign(0.018) tolerated(0.18) neutral(0.057) NULL DDX25 29118 genome.wustl.edu 37 11 125781307 125781307 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013264.3 +1 reviewed p.R242C 0.960 273 0% 175 46.9% 0 - benign(0.013) deleterious(0) neutral(0.445) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CDON 50937 genome.wustl.edu 37 11 125853983 125853983 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016952.4 -1 validated p.R927C 1.000 51 0% 42 31% 0 - possibly_damaging(0.827) deleterious(0) deleterious(0.758) NULL SRPR 6734 genome.wustl.edu 37 11 126137506 126137506 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003139.3 -1 reviewed p.Q101H 0.486 25 0% 72 52.8% 67 49.2% benign(0) tolerated(0.44) neutral(0.013) HMMPfam_SRP-alpha_N TIRAP 114609 genome.wustl.edu 37 11 126162890 126162890 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148910.2 +1 reviewed p.Y196H 1.000 59 0% 42 38.1% 4 25% possibly_damaging(0.787) tolerated(0.07) deleterious(0.613) superfamily_Toll/Interleukin receptor TIR domain KIRREL3 84623 genome.wustl.edu 37 11 126294583 126294583 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032531.3 -1 reviewed p.F743 1.000 184 0% 94 46.8% 0 - - - - NULL KIRREL3 84623 genome.wustl.edu 37 11 126305195 126305195 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032531.3 -1 reviewed p.S519L 1.000 338 0% 88 28.4% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL ARHGAP32 9743 genome.wustl.edu 37 11 128840294 128840294 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142685.1 -1 validated p.S1591Y 0.086 126 0% 84 56% 4 50% possibly_damaging(0.688) deleterious(0.01) deleterious(0.651) NULL ARHGAP32 9743 genome.wustl.edu 37 11 128993398 128993398 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142685.1 -1 validated p.P115 0.962 172 0% 49 38.8% 1 100% - - - NULL NFRKB 4798 genome.wustl.edu 37 11 129735820 129735820 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006165.3 -1 validated p.G1222D 1.000 247 0.4% 117 41.9% 27 33.3% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) NULL ADAMTS15 170689 genome.wustl.edu 37 11 130332037 130332037 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139055.2 +1 reviewed p.G382 1.000 158 0% 52 36.5% 0 - - - - HMMPfam_Reprolysin,superfamily_SSF55486 IGSF9B 22997 genome.wustl.edu 37 11 133806078 133806078 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014987.1 -1 validated p.I231L 1.000 110 0% 29 44.8% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_I-set,superfamily_SSF48726 NCAPD3 23310 genome.wustl.edu 37 11 134038879 134038879 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015261.2 -1 validated p.E1058* 1.000 240 0% 120 36.7% 14 14.2% - - - superfamily_ARM-type_fold NCAPD3 23310 genome.wustl.edu 37 11 134073951 134073951 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015261.2 -1 validated p.R402Q 0.961 102 0% 85 20% 6 16.6% possibly_damaging(0.671) tolerated(0.19) neutral(0.287) superfamily_ARM-type_fold THYN1 29087 genome.wustl.edu 37 11 134121168 134121168 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037305.1 -1 reviewed p.E26 0.001 257 0% 169 46.2% 90 50% - - - NULL B3GAT1 27087 genome.wustl.edu 37 11 134252700 134252700 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018644.3 -1 reviewed p.K274 1.000 69 0% 46 50% 0 - - - - HMMPfam_Glyco_transf_43,superfamily_SSF53448 B3GAT1 27087 genome.wustl.edu 37 11 134252836 134252836 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018644.3 -1 reviewed p.A229V 1.000 27 0% 20 50% 0 - benign(0.031) tolerated(0.23) neutral(0.043) HMMPfam_Glyco_transf_43,superfamily_SSF53448 SLC6A13 6540 genome.wustl.edu 37 12 369152 369152 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016615.2 -1 provisional p.K23Q 1.000 205 0% 84 52.4% 0 - benign(0.101) tolerated(0.26) neutral(0.042) NULL KDM5A 5927 genome.wustl.edu 37 12 438057 438057 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042603.1 -1 reviewed p.E638* 1.000 362 0% 92 44.6% 6 0% - - - NULL KDM5A 5927 genome.wustl.edu 37 12 438179 438179 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042603.1 -1 reviewed p.Q597P 1.000 221 0% 60 38.3% 12 8.3% benign(0.028) deleterious(0.03) neutral(0.366) HMMSmart_SM00558 B4GALNT3 283358 genome.wustl.edu 37 12 662362 662362 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173593.3 +1 validated p.F425V 0.219 6 0.000 21 0.476 4 100% benign(0.059) tolerated(0.23) neutral(0.045) NULL WNK1 65125 genome.wustl.edu 37 12 987399 987399 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018979.3 +1 reviewed p.A749S 1.000 150 0% 71 43.7% 11 36.3% unknown(0) tolerated(0.5) - superfamily_Kinase_like WNK1 65125 genome.wustl.edu 37 12 991106 991106 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018979.3 +1 reviewed p.S1080N 1.000 72 0% 68 39.7% 14 42.8% unknown(0) tolerated(0.08) - NULL ERC1 23085 genome.wustl.edu 37 12 1137251 1137251 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178040.2 +1 reviewed p.S61Y 1.000 140 0% 63 41.3% 9 55.5% unknown(0) deleterious(0) - NULL CACNA2D4 93589 genome.wustl.edu 37 12 2027542 2027542 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172364.4 -1 reviewed p.R33H 0.000 50 0% 27 25.9% 0 - benign(0.002) tolerated(0.53) neutral(0.007) NULL CACNA1C 775 genome.wustl.edu 37 12 2702465 2702465 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199460.2 +1 reviewed p.P873S 1.000 272 0% 73 34.2% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ITFG2 55846 genome.wustl.edu 37 12 2927442 2927442 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018463.3 +1 validated p.I135 1.000 190 0% 112 39.3% 27 51.8% - - - HMMPfam_FG-GAP,superfamily_Integrin alpha N-terminal domain PRMT8 56341 genome.wustl.edu 37 12 3677990 3677990 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019854.3 +1 validated p.V200 1.000 427 0% 128 50.8% 0 - - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases PRMT8 56341 genome.wustl.edu 37 12 3678714 3678714 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019854.3 +1 validated p.K232N 1.000 253 0% 91 47.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PRMT8 56341 genome.wustl.edu 37 12 3686081 3686081 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019854.3 +1 validated p.V253M 1.000 228 0% 49 46.9% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PARP11 57097 genome.wustl.edu 37 12 3921558 3921558 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020367.4 -1 validated p.D250Y 1.000 189 0% 43 41.9% 5 40% benign(0.139) tolerated(0.05) neutral(0.357) HMMPfam_PARP,superfamily_ADP-ribosylation DYRK4 8798 genome.wustl.edu 37 12 4705362 4705362 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003845.1 +1 provisional p.I110 0.725 119 0% 31 16.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase DYRK4 8798 genome.wustl.edu 37 12 4721725 4721725 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003845.1 +1 provisional p.R388C 1.000 92 0% 37 37.8% 63 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DYRK4 8798 genome.wustl.edu 37 12 4722721 4722721 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003845.1 +1 provisional p.S455 0.000 106 0% 35 45.7% 78 42.3% - - - NULL AKAP3 10566 genome.wustl.edu 37 12 4735964 4735964 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006422.2 -1 reviewed p.D702Y 0.998 248 0% 35 48.6% 1 0% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_AKAP_110,HMMSmart_SM00807 GALNT8 26290 genome.wustl.edu 37 12 4854691 4854691 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017417.1 +1 reviewed p.K319N 0.072 366 0% 31 41.9% 0 - benign(0.06) tolerated(0.15) neutral(0.245) HMMPfam_Glycos_transf_2,superfamily_SSF53448 KCNA5 3741 genome.wustl.edu 37 12 5154705 5154705 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002234.2 +1 reviewed p.F464L 1.000 138 0% 76 44.7% 0 - benign(0.396) deleterious(0.04) deleterious(0.476) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ANO2 57101 genome.wustl.edu 37 12 5672556 5672556 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020373.2 -1 validated p.R969Q 0.000 156 0% 40 60% 0 - unknown(0) tolerated(0.61) - NULL ANO2 57101 genome.wustl.edu 37 12 5672648 5672648 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020373.2 -1 validated p.K938N 1.000 285 0% 70 37.1% 0 - possibly_damaging(0.493) tolerated(0.14) neutral(0.414) HMMPfam_DUF590 ANO2 57101 genome.wustl.edu 37 12 5722082 5722082 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020373.2 -1 validated p.G657 0.168 267 0% 42 45.2% 0 - - - - NULL ANO2 57101 genome.wustl.edu 37 12 5744323 5744323 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020373.2 -1 validated p.K604R 1.000 208 0% 58 46.6% 0 - benign(0.067) deleterious(0.03) neutral(0.369) NULL ANO2 57101 genome.wustl.edu 37 12 5908725 5908725 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020373.2 -1 validated p.E331* 1.000 93 0% 114 38.6% 2 0% - - - NULL VWF 7450 genome.wustl.edu 37 12 6122773 6122773 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000552.3 -1 reviewed p.D1832N 0.950 199 0% 99 42.4% 36 0% benign(0.095) tolerated(0.05) neutral(0.352) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like VWF 7450 genome.wustl.edu 37 12 6138570 6138570 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000552.3 -1 reviewed p.A969S 0.890 198 0% 59 40.7% 21 0% benign(0.004) tolerated(0.22) neutral(0.042) HMMPfam_VWD,HMMSmart_SM00216 GAPDH 2597 genome.wustl.edu 37 12 6647361 6647361 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000448046 +1 known e6-2 0.001 17 0% 42 47.6% 7764 47.1% - - - - CHD4 1108 genome.wustl.edu 37 12 6711141 6711141 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001273.2 -1 reviewed p.D141E 0.028 14 0% 25 40% 53 52.8% benign(0.001) tolerated(1) - NULL C12orf53 196500 genome.wustl.edu 37 12 6806469 6806469 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153685.2 -1 predicted p.F169 0.963 21 0% 25 64% 0 - - - - NULL USP5 8078 genome.wustl.edu 37 12 6966801 6966801 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098536.1 +1 validated p.S260A 1.000 47 0% 40 57.5% 75 48% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-UBP LPCAT3 10162 genome.wustl.edu 37 12 7087663 7087663 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005768.5 -1 validated p.V294L 0.999 122 0% 52 50% 32 31.2% probably_damaging(0.988) tolerated(0.07) deleterious(0.756) HMMPfam_MBOAT C1S 716 genome.wustl.edu 37 12 7173142 7173142 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001734.3 +1 reviewed p.F247L 0.983 437 0% 182 41.8% 58 1.7% benign(0.01) tolerated(0.14) neutral(0.250) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB CD163L1 283316 genome.wustl.edu 37 12 7528345 7528345 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174941.4 -1 reviewed p.H879 0.000 193 0% 59 52.5% 2 0% - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163L1 283316 genome.wustl.edu 37 12 7586112 7586112 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174941.4 -1 reviewed p.G101 0.000 180 0% 37 35.1% 1 0% - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163L1 283316 genome.wustl.edu 37 12 7593813 7593813 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174941.4 -1 reviewed p.L21I 0.000 81 0% 92 51.1% 0 - benign(0.021) deleterious(0) neutral(0.446) NULL CD163 9332 genome.wustl.edu 37 12 7647754 7647754 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004244.4 -1 validated p.S448Y 0.583 332 0% 83 54.2% 5 0% possibly_damaging(0.944) tolerated(0.27) neutral(0.422) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like SLC2A3 6515 genome.wustl.edu 37 12 8083102 8083102 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006931.2 -1 validated p.R216I 0.990 188 0% 158 43% 3 33.3% benign(0.148) deleterious(0.01) neutral(0.419) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter NECAP1 25977 genome.wustl.edu 37 12 8248218 8248218 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015509.3 +1 validated p.S233Y 1.000 144 0% 88 50% 23 60.8% benign(0.159) deleterious(0.02) neutral(0.397) NULL MFAP5 8076 genome.wustl.edu 37 12 8813464 8813464 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003480.2 -1 reviewed p.R30Q 0.989 163 0% 104 44.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGP A2M 2 genome.wustl.edu 37 12 9225282 9225282 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000014.4 -1 reviewed p.M1314I 0.000 237 0% 111 36.9% 164 0% benign(0) tolerated(0.66) neutral(0.003) NULL A2M 2 genome.wustl.edu 37 12 9227168 9227168 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000014.4 -1 reviewed p.F1248L 1.000 122 0% 49 40.8% 131 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp A2M 2 genome.wustl.edu 37 12 9262610 9262610 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000014.4 -1 reviewed p.A176T 0.000 115 0% 79 51.9% 28 3.5% benign(0.001) tolerated(0.4) neutral(0.016) HMMPfam_A2M_N PZP 5858 genome.wustl.edu 37 12 9334624 9334624 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002864.2 -1 validated p.E546K 0.995 181 0% 71 43.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_A2M_N_2 CLEC2D 29121 genome.wustl.edu 37 12 9822348 9822348 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004419.2 +1 reviewed p.N6 0.000 140 0% 55 30.9% 1 0% - - - NULL CD69 969 genome.wustl.edu 37 12 9907003 9907003 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_026671.1 -1 reviewed NULL 0.000 6 0.000 20 0.450 0 - - - - - CLEC2B 9976 genome.wustl.edu 37 12 10015103 10015103 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005127.2 -1 reviewed p.L23R 0.000 49 0% 33 39.4% 10 0% unknown(0) deleterious(0) - superfamily_C-type lectin-like CLEC1B 51266 genome.wustl.edu 37 12 10145811 10145811 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016509.3 -1 validated p.F207L 0.091 297 0% 43 51.2% 0 - benign(0.001) tolerated(0.6) neutral(0.004) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CLEC7A 64581 genome.wustl.edu 37 12 10280279 10280279 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000422474 -1 known p.S90Y 0.000 101 1% 49 20.4% 0 - unknown(0) - - NULL CLEC7A 64581 genome.wustl.edu 37 12 10280391 10280391 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_197947.2 -1 reviewed p.L53I 0.001 180 0% 66 56.1% 3 0% probably_damaging(0.996) tolerated(0.47) deleterious(0.473) HMMPfam_Ly49 KLRC1 3821 genome.wustl.edu 37 12 10599150 10599150 + Nonstop_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002259.4 -1 reviewed p.*234Y 0.000 217 0% 149 12.8% 1 0% - - - NULL KLRC1 3821 genome.wustl.edu 37 12 10601899 10601899 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002259.4 -1 reviewed p.E142D 0.231 310 0% 164 44.5% 0 - benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CSDA 8531 genome.wustl.edu 37 12 10871680 10871680 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003651.4 -1 validated p.R109* 1.000 68 0% 63 39.7% 41 0% - - - HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK TAS2R7 50837 genome.wustl.edu 37 12 10954918 10954918 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023919.2 -1 reviewed p.I84 0.000 80 0% 47 40.4% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R8 50836 genome.wustl.edu 37 12 10958831 10958831 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023918.1 -1 reviewed p.S250Y 0.000 63 0% 24 45.8% 0 - benign(0.296) tolerated(0.49) neutral(0.102) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R9 50835 genome.wustl.edu 37 12 10961743 10961743 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023917.2 -1 reviewed p.V311D 0.000 51 0% 14 50% 0 - benign(0.11) deleterious(0) neutral(0.453) NULL TAS2R13 50838 genome.wustl.edu 37 12 11061060 11061060 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023920.2 -1 reviewed p.L280I 0.844 143 0% 24 50% 0 - benign(0.005) tolerated(1) - HMMPfam_TAS2R,superfamily_SSF81321 PRR4 11272 genome.wustl.edu 37 12 11126309 11126309 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098538.1 -1 validated p.K16N 0.003 132 0% 71 39.4% 10 30% - - - NULL TAS2R42 353164 genome.wustl.edu 37 12 11339099 11339099 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181429.1 -1 provisional p.E149* 0.001 123 0% 39 51.3% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 PRB2 653247 genome.wustl.edu 37 12 11546091 11546091 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006248.3 -1 validated p.P307 0.002 435 0% 111 31.5% 0 - - - - NULL PRB2 653247 genome.wustl.edu 37 12 11546491 11546491 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006248.3 -1 validated p.R174Q 0.000 557 1.1% 118 39.8% 0 - unknown(0) tolerated(0.44) - NULL GPR19 2842 genome.wustl.edu 37 12 12814351 12814351 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006143.2 -1 validated p.T344 0.945 300 0% 255 43.5% 2 100% - - - superfamily_Family A G protein-coupled receptor-like CDKN1B 1027 genome.wustl.edu 37 12 12870962 12870962 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004064.3 +1 reviewed p.D63E 1.000 38 0% 55 41.8% 146 45.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CDI C12orf36 283422 genome.wustl.edu 37 12 13529264 13529264 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182558.1 -1 provisional p.P26T 0.001 291 0% 73 35.6% 0 - unknown(0) - - NULL ATF7IP 55729 genome.wustl.edu 37 12 14613480 14613480 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018179.3 +1 validated p.K737R 1.000 127 0% 51 43.1% 16 25% probably_damaging(0.99) tolerated(0.11) deleterious(0.713) NULL PLBD1 79887 genome.wustl.edu 37 12 14659974 14659974 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024829.5 -1 validated p.L422P 1.000 204 0% 93 38.7% 22 27.2% benign(0.01) tolerated(0.22) neutral(0.043) HMMPfam_Phospholip_B C12orf60 144608 genome.wustl.edu 37 12 14976471 14976471 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175874.3 +1 validated p.K201T 0.000 66 0% 39 51.3% 4 25% possibly_damaging(0.81) tolerated(0.15) deleterious(0.546) NULL MGP 4256 genome.wustl.edu 37 12 15035966 15035966 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000900.2 -1 validated p.R37M 1.000 283 0.4% 56 30.4% 184 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMSmart_GLA PTPRO 5800 genome.wustl.edu 37 12 15652400 15652400 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030667.1 +1 reviewed p.F178C 1.000 134 0% 70 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EPS8 2059 genome.wustl.edu 37 12 15793722 15793722 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004447.5 -1 reviewed p.F579S 1.000 158 0% 57 45.6% 11 81.8% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 EPS8 2059 genome.wustl.edu 37 12 15803924 15803924 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004447.5 -1 reviewed p.E423* 1.000 338 0% 48 54.2% 10 10% - - - NULL SLC15A5 729025 genome.wustl.edu 37 12 16342639 16342639 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000344941 -1 known p.F568S 0.877 150 0% 51 35.3% 0 - benign(0) tolerated(0.68) neutral(0.002) NULL LMO3 55885 genome.wustl.edu 37 12 16753611 16753611 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001395.1 -1 validated p.L62I 1.000 269 0% 37 35.1% 10 60% possibly_damaging(0.885) deleterious(0) deleterious(0.790) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PLCZ1 89869 genome.wustl.edu 37 12 18852832 18852832 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033123.2 -1 provisional p.K357T 1.000 83 0% 36 50% 0 - possibly_damaging(0.731) deleterious(0.03) deleterious(0.631) HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_PLC-like phosphodiesterases PLCZ1 89869 genome.wustl.edu 37 12 18872401 18872401 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033123.2 -1 provisional p.Q178R 0.997 97 0% 43 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases PLCZ1 89869 genome.wustl.edu 37 12 18876401 18876401 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033123.2 -1 provisional p.E71* 1.000 185 0% 45 51.1% 0 - - - - superfamily_EF-hand PLEKHA5 54477 genome.wustl.edu 37 12 19489491 19489491 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019012.3 +1 validated p.D728Y 0.998 100 0% 181 43.6% 31 51.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PLEKHA5 54477 genome.wustl.edu 37 12 19511172 19511172 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019012.3 +1 validated p.R884I 1.000 48 0% 102 42.2% 24 20.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDE3A 5139 genome.wustl.edu 37 12 20803385 20803385 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000921.3 +1 validated p.D926Y 1.000 208 0.5% 115 40% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 SLCO1B1 10599 genome.wustl.edu 37 12 21353563 21353563 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006446.4 +1 reviewed p.E364 0.982 332 0% 83 37.3% 0 - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO1A2 6579 genome.wustl.edu 37 12 21472353 21472353 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390670 -1 known p.L3 0.003 366 0% 83 49.4% 0 - - - - NULL GOLT1B 51026 genome.wustl.edu 37 12 21661390 21661390 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016072.4 +1 validated p.K64R 1.000 280 0% 317 45.4% 18 61.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Got1 GOLT1B 51026 genome.wustl.edu 37 12 21661480 21661480 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016072.4 +1 validated p.F94C 1.000 94 0% 132 48.5% 15 60% probably_damaging(0.959) deleterious(0.04) deleterious(0.752) HMMPfam_Got1 ABCC9 10060 genome.wustl.edu 37 12 21954066 21954066 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020297.2 -1 reviewed p.R1521Q 1.000 117 0% 34 38.2% 0 - benign(0.013) tolerated(0.38) neutral(0.018) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 ABCC9 10060 genome.wustl.edu 37 12 21995261 21995261 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005691.2 -1 reviewed p.R1154W 1.000 227 0% 74 54.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC9 10060 genome.wustl.edu 37 12 22025569 22025569 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005691.2 -1 reviewed p.H730Y 0.999 128 0% 29 37.9% 0 - benign(0.051) tolerated(1) neutral(0.003) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases CMAS 55907 genome.wustl.edu 37 12 22208469 22208469 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018686.3 +1 reviewed p.R162* 0.999 220 0% 260 39.2% 22 9% - - - HMMPfam_CTP_transf_3,superfamily_Nucleotide-diphospho-sugar transferases SOX5 6660 genome.wustl.edu 37 12 23728661 23728661 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006940.4 -1 reviewed p.A426S 1.000 235 0% 75 40% 0 - benign(0.019) tolerated(0.8) neutral(0.002) NULL LRMP 4033 genome.wustl.edu 37 12 25260755 25260755 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006152.2 +1 reviewed p.D421Y 0.000 140 0% 36 36.1% 1 0% possibly_damaging(0.654) tolerated(0.05) deleterious(0.576) HMMPfam_MRVI1 CASC1 55259 genome.wustl.edu 37 12 25297593 25297593 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018272.3 -1 validated p.F236L 0.070 327 0% 133 52.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CASC1 55259 genome.wustl.edu 37 12 25307254 25307254 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018272.3 -1 validated p.N146S 0.019 295 0% 251 42.6% 1 0% benign(0.001) tolerated(0.93) - NULL CASC1 55259 genome.wustl.edu 37 12 25308311 25308311 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018272.3 -1 validated p.L78 0.011 266 0% 298 51% 0 - - - - NULL KRAS 3845 genome.wustl.edu 37 12 25368419 25368419 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033360.2 -1 reviewed p.K176Q 1.000 302 0% 336 42.6% 2 50% benign(0.004) tolerated(0.32) neutral(0.024) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases IFLTD1 160492 genome.wustl.edu 37 12 25705867 25705867 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145728.1 -1 validated p.E9D 0.001 586 0% 203 42.9% 0 - possibly_damaging(0.801) deleterious(0.03) deleterious(0.666) NULL ITPR2 3709 genome.wustl.edu 37 12 26634089 26634089 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002223.2 -1 validated p.R2033Q 1.000 106 0% 85 49.4% 12 58.3% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL ITPR2 3709 genome.wustl.edu 37 12 26812061 26812061 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002223.2 -1 validated p.R624I 1.000 235 0% 373 43.7% 5 20% possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_RYDR_ITPR ITPR2 3709 genome.wustl.edu 37 12 26877666 26877666 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002223.2 -1 validated p.E97* 1.000 246 0% 177 45.8% 2 0% - - - HMMPfam_Ins145_P3_rec ASUN 55726 genome.wustl.edu 37 12 27078707 27078707 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018164.2 -1 validated p.R221H 1.000 150 0% 113 39.8% 22 68.1% benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_DUF2151 TM7SF3 51768 genome.wustl.edu 37 12 27128568 27128568 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016551.2 -1 validated p.V437 0.001 192 0% 60 40% 61 44.2% unknown(0) tolerated(0.33) - NULL ARNTL2 56938 genome.wustl.edu 37 12 27533181 27533181 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020183.3 +1 provisional p.E110* 1.000 115 0% 56 46.4% 7 42.8% - - - HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain ARNTL2 56938 genome.wustl.edu 37 12 27555570 27555570 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020183.3 +1 provisional p.G479 0.036 179 0% 180 45% 8 75% - - - NULL CCDC91 55297 genome.wustl.edu 37 12 28412339 28412339 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018318.3 +1 validated p.T25A 0.383 341 0% 51 15.7% 12 8.3% benign(0.098) tolerated(0.08) neutral(0.307) NULL OVCH1 341350 genome.wustl.edu 37 12 29604479 29604479 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183378.2 -1 validated p.E852* 0.001 108 0% 20 35% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TMTC1 83857 genome.wustl.edu 37 12 29670431 29670431 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175861.2 -1 provisional p.E592K 0.748 122 0% 34 47.1% 2 0% benign(0.009) tolerated(0.97) neutral(0.001) HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_Protein prenylyltransferase,superfamily_TPR-like IPO8 10526 genome.wustl.edu 37 12 30818244 30818244 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006390.2 -1 reviewed e13-1 1.000 95 0% 112 39.3% 0 - - - - - CAPRIN2 65981 genome.wustl.edu 37 12 30881800 30881800 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002259.1 -1 validated p.E522K 0.038 368 0% 72 43.1% 6 16.6% benign(0.141) deleterious(0) neutral(0.457) NULL OVOS2 144203 genome.wustl.edu 37 12 31279350 31279350 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343151.1 -1 model p.A1135T 0.981 338 0% 276 30.1% 1 0% - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp OVOS2 144203 genome.wustl.edu 37 12 31282698 31282698 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343151.1 -1 model p.S1062 0.271 198 0% 71 40.8% 1 0% - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp OVOS2 144203 genome.wustl.edu 37 12 31289625 31289625 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343151.1 -1 model p.E712* 0.002 214 0% 62 24.2% 1 0% - - - NULL OVOS2 144203 genome.wustl.edu 37 12 31291174 31291174 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343151.1 -1 model p.N663T 0.999 411 0% 184 28.3% 0 - - - - NULL OVOS2 144203 genome.wustl.edu 37 12 31302352 31302352 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343151.1 -1 model p.Q314R 1.000 226 0% 121 40.5% 0 - - - - NULL DENND5B 160518 genome.wustl.edu 37 12 31613208 31613208 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144973.3 -1 validated p.L338I 1.000 112 0% 111 41.4% 4 50% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_DENN,HMMSmart_SM00799 METTL20 254013 genome.wustl.edu 37 12 31820654 31820654 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135863.1 +1 validated p.I173M 0.994 63 0% 73 53.4% 0 - benign(0.01) tolerated(0.12) neutral(0.261) HMMPfam_Methyltransf_16,superfamily_SSF53335 C12orf35 55196 genome.wustl.edu 37 12 32134592 32134592 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018169.3 +1 validated p.N235H 0.000 43 0% 37 56.8% 22 59% benign(0.024) deleterious(0) neutral(0.446) NULL DNM1L 10059 genome.wustl.edu 37 12 32884003 32884003 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012062.3 +1 reviewed p.E379* 1.000 211 0% 304 50% 39 5.1% - - - HMMPfam_Dynamin_M DNM1L 10059 genome.wustl.edu 37 12 32892962 32892962 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000380998 +1 known p.D11Y 0.005 406 0% 314 18.2% 3 0% - - - NULL ALG10 84920 genome.wustl.edu 37 12 34179264 34179264 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032834.3 +1 reviewed p.R279Q 0.999 412 0% 275 48% 7 14.2% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_DIE2_ALG10 ALG10B 144245 genome.wustl.edu 37 12 38714532 38714532 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013620.3 +1 validated p.K313N 0.000 173 0% 312 34.3% 1 100% benign(0.012) tolerated(0.47) neutral(0.011) HMMPfam_DIE2_ALG10 KIF21A 55605 genome.wustl.edu 37 12 39705328 39705328 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017641.3 -1 validated p.S1316 0.029 131 0% 51 47.1% 4 0% - - - superfamily_WD40 repeat-like KIF21A 55605 genome.wustl.edu 37 12 39731002 39731002 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017641.3 -1 validated p.R759C 1.000 259 0% 112 43.8% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_WD40 repeat-like KIF21A 55605 genome.wustl.edu 37 12 39750644 39750644 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017641.3 -1 validated p.E487K 1.000 202 0% 98 45.9% 2 100% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL KIF21A 55605 genome.wustl.edu 37 12 39760271 39760271 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017641.3 -1 validated p.E262* 1.000 244 0% 67 50.7% 3 0% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF21A 55605 genome.wustl.edu 37 12 39760882 39760882 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017641.3 -1 validated p.I229V 1.000 221 0% 53 34% 3 0% benign(0.012) tolerated(0.06) neutral(0.323) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCD2 225 genome.wustl.edu 37 12 40001403 40001403 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005164.3 -1 reviewed p.E412* 1.000 61 0% 47 42.6% 0 - - - - NULL ABCD2 225 genome.wustl.edu 37 12 40013025 40013025 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005164.3 -1 reviewed p.I131 0.516 124 0% 89 41.6% 0 - - - - HMMPfam_ABC_membrane_2 C12orf40 283461 genome.wustl.edu 37 12 40076805 40076805 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031748.2 +1 validated p.S360L 0.003 58 0% 49 42.9% 0 - probably_damaging(0.99) - - NULL C12orf40 283461 genome.wustl.edu 37 12 40085894 40085894 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031748.2 +1 validated p.R464Q 0.000 46 0% 46 47.8% 0 - benign(0.002) - - NULL C12orf40 283461 genome.wustl.edu 37 12 40114671 40114671 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031748.2 +1 validated p.N526T 0.000 62 0% 13 53.8% 0 - benign(0) - - NULL SLC2A13 114134 genome.wustl.edu 37 12 40422198 40422198 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052885.3 -1 validated p.R277I 0.802 77 0% 50 56% 1 0% possibly_damaging(0.446) tolerated(0.14) neutral(0.395) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter LRRK2 120892 genome.wustl.edu 37 12 40637380 40637380 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198578.3 +1 reviewed p.G245 1.000 246 0% 70 32.9% 1 100% - - - superfamily_ARM-type_fold LRRK2 120892 genome.wustl.edu 37 12 40716129 40716129 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198578.3 +1 reviewed p.L1776I 1.000 346 0.3% 135 45.2% 0 - benign(0.353) deleterious(0.04) neutral(0.460) NULL LRRK2 120892 genome.wustl.edu 37 12 40740597 40740597 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198578.3 +1 reviewed p.N2051S 1.000 200 0% 128 46.1% 1 0% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) superfamily_Kinase_like,HMMPfam_Pkinase CNTN1 1272 genome.wustl.edu 37 12 41323788 41323788 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001843.2 +1 reviewed p.L229 0.997 370 0% 20 65% 1 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PDZRN4 29951 genome.wustl.edu 37 12 41585270 41585270 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000402685 +1 known p.H220R 0.610 56 0% 140 40% 0 - benign(0.001) tolerated(0.11) neutral(0.272) superfamily_PDZ domain-like PDZRN4 29951 genome.wustl.edu 37 12 41961623 41961623 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013377.3 +1 validated p.F244L 1.000 125 0% 21 38.1% 0 - benign(0) tolerated(0.27) neutral(0.034) NULL YAF2 10138 genome.wustl.edu 37 12 42555435 42555435 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005748.3 -1 reviewed p.K95N 1.000 296 0% 311 39.9% 27 40.7% benign(0.046) tolerated(0.16) neutral(0.062) NULL ADAMTS20 80070 genome.wustl.edu 37 12 43769299 43769299 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025003.3 -1 validated p.Q1777K 1.000 259 0% 147 40.8% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_GON ADAMTS20 80070 genome.wustl.edu 37 12 43847741 43847741 + Missense_Mutation SNP C C T rs143824237 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025003.3 -1 validated p.E577K 1.000 185 0% 42 50% 0 - benign(0) tolerated(1) - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat PUS7L 83448 genome.wustl.edu 37 12 44130329 44130329 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098614.1 -1 validated p.R527H 1.000 216 0% 112 45.5% 5 80% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom PUS7L 83448 genome.wustl.edu 37 12 44148826 44148826 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098614.1 -1 validated p.L75I 0.000 411 0% 264 44.7% 5 40% benign(0) tolerated(0.55) neutral(0.007) superfamily_PsdUridine_synth_cat_dom IRAK4 51135 genome.wustl.edu 37 12 44180261 44180261 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114182.2 +1 reviewed p.K416N 0.038 16 0% 35 60% 10 50% benign(0.14) tolerated(0.1) neutral(0.298) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TWF1 5756 genome.wustl.edu 37 12 44191233 44191233 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002822.3 -1 reviewed p.I245S 0.002 89 0% 130 36.2% 46 54.3% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins TMEM117 84216 genome.wustl.edu 37 12 44238575 44238575 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032256.1 +1 provisional p.E41* 1.000 139 0% 212 40.1% 3 33.3% - - - NULL TMEM117 84216 genome.wustl.edu 37 12 44537360 44537360 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032256.1 +1 provisional p.R148Q 1.000 154 0% 93 35.5% 7 57.1% probably_damaging(1) tolerated(0.28) deleterious(0.531) NULL TMEM117 84216 genome.wustl.edu 37 12 44782137 44782137 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032256.1 +1 provisional p.F409L 1.000 267 0% 54 44.4% 14 42.8% possibly_damaging(0.775) tolerated(0.15) deleterious(0.529) NULL ANO6 196527 genome.wustl.edu 37 12 45795802 45795802 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142679.1 +1 validated p.F537 0.228 161 0% 73 42.5% 12 66.6% - - - NULL ARID2 196528 genome.wustl.edu 37 12 46205287 46205287 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152641.2 +1 validated p.I124S 1.000 197 0% 67 52.2% 3 33.3% benign(0.304) tolerated(0.07) neutral(0.413) NULL ARID2 196528 genome.wustl.edu 37 12 46211620 46211620 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152641.2 +1 validated p.D196Y 1.000 170 0% 71 42.3% 5 20% probably_damaging(0.986) tolerated(1) neutral(0.434) NULL SCAF11 9169 genome.wustl.edu 37 12 46320332 46320332 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004719.2 -1 validated p.R1051I 1.000 120 0% 98 43.9% 30 46.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RPAP3 79657 genome.wustl.edu 37 12 48090144 48090144 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024604.2 -1 reviewed p.D154Y 1.000 254 0% 113 40.7% 19 63.1% possibly_damaging(0.649) deleterious(0.01) deleterious(0.634) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like ENDOU 8909 genome.wustl.edu 37 12 48106394 48106394 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006025.3 -1 reviewed p.K252Q 1.000 82 1.2% 66 39.4% 0 - probably_damaging(0.997) tolerated(0.36) deleterious(0.486) HMMPfam_XendoU ENDOU 8909 genome.wustl.edu 37 12 48110811 48110811 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006025.3 -1 reviewed p.K97R 0.307 365 0% 158 46.2% 0 - benign(0.235) tolerated(0.23) neutral(0.065) HMMPfam_XendoU COL2A1 1280 genome.wustl.edu 37 12 48389075 48389075 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001844.4 -1 reviewed p.R242H 1.000 71 0% 95 47.4% 6 50% unknown(0) deleterious(0.02) - HMMPfam_Collagen OR10AD1 121275 genome.wustl.edu 37 12 48596425 48596425 + Silent SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004134.1 -1 provisional p.T217 0.921 237 0% 83 47% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C12orf54 121273 genome.wustl.edu 37 12 48888661 48888661 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152319.3 +1 validated p.G108D 0.000 101 0% 68 45.6% 0 - benign(0.164) - - NULL KANSL2 54934 genome.wustl.edu 37 12 49048753 49048753 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017822.3 -1 validated p.E440* 1.000 250 0% 123 46.3% 36 58.3% - - - NULL RND1 27289 genome.wustl.edu 37 12 49251994 49251994 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014470.3 -1 validated p.E162* 1.000 130 0% 97 46.4% 2 100% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC65 85478 genome.wustl.edu 37 12 49298128 49298128 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033124.4 +1 validated p.K3 0.955 94 0% 28 32.1% 2 50% - - - NULL WNT1 7471 genome.wustl.edu 37 12 49374338 49374338 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005430.3 +1 reviewed p.D164N 1.000 26 0.000 9 0.444 0 - possibly_damaging(0.555) tolerated(0.26) neutral(0.224) HMMPfam_wnt,HMMSmart_SM00097 MLL2 8085 genome.wustl.edu 37 12 49420374 49420374 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003482.3 -1 validated p.F5125L 1.000 38 0% 22 22.7% 25 48% unknown(0) - - HMMSmart_SM00184,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger DNAJC22 79962 genome.wustl.edu 37 12 49743452 49743452 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024902.2 +1 provisional p.F266S 1.000 104 0% 118 15.3% 19 5.2% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL FAM186B 84070 genome.wustl.edu 37 12 49994388 49994388 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032130.2 -1 validated p.E345D 0.000 162 0% 84 44% 1 0% benign(0.002) deleterious(0) neutral(0.445) NULL FMNL3 91010 genome.wustl.edu 37 12 50045814 50045814 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175736.4 -1 validated p.D502G 0.835 33 0% 18 44.4% 6 33.3% benign(0.093) tolerated(0.44) neutral(0.019) NULL ASIC1 41 genome.wustl.edu 37 12 50471087 50471087 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020039.2 +1 reviewed p.G217V 1.000 41 0% 14 42.9% 0 - unknown(0) - - HMMPfam_ASC FAM186A 121006 genome.wustl.edu 37 12 50725461 50725461 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145475.1 -1 provisional p.K2280N 0.816 230 0% 213 39% 0 - benign(0.022) deleterious(0.04) neutral(0.350) NULL FAM186A 121006 genome.wustl.edu 37 12 50749696 50749696 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145475.1 -1 provisional p.R307* 0.000 287 0% 252 46.8% 0 - - - - NULL DIP2B 57609 genome.wustl.edu 37 12 51069202 51069202 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173602.2 +1 validated p.F296C 1.000 113 0% 215 41.4% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DIP2B 57609 genome.wustl.edu 37 12 51072680 51072680 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000455310 +1 known p.I389L 0.000 27 0% 19 57.9% 0 - unknown(0) - - NULL ATF1 466 genome.wustl.edu 37 12 51213529 51213529 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005171.3 +1 validated p.T261 0.992 22 0% 42 52.4% 24 54.1% - - - HMMSmart_BRLZ,HMMPfam_bZIP_1 TFCP2 7024 genome.wustl.edu 37 12 51497497 51497497 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005653.4 -1 reviewed p.R339Q 1.000 184 0% 167 55.1% 17 58.8% benign(0.134) tolerated(0.35) neutral(0.032) superfamily_SAM/Pointed domain BIN2 51411 genome.wustl.edu 37 12 51685945 51685945 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016293.2 -1 validated p.L315 0.317 65 0% 95 43.2% 4 0% - - - NULL CELA1 1990 genome.wustl.edu 37 12 51736400 51736400 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001971.5 -1 reviewed p.I95 0.000 119 0% 48 35.4% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SLC4A8 9498 genome.wustl.edu 37 12 51888782 51888782 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039960.1 +1 validated p.F941L 0.297 353 0% 116 52.6% 0 - benign(0.004) tolerated(0.69) neutral(0.002) HMMPfam_HCO3_cotransp SCN8A 6334 genome.wustl.edu 37 12 52159701 52159701 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014191.2 +1 reviewed p.R931* 1.000 392 0% 112 40.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52162754 52162754 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014191.2 +1 reviewed p.R1003C 1.000 110 0.9% 55 43.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52180440 52180440 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014191.2 +1 reviewed p.Y1353D 1.000 183 0% 91 44% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52183184 52183184 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014191.2 +1 reviewed p.F1467L 1.000 230 0% 175 48% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels ACVR1B 91 genome.wustl.edu 37 12 52374887 52374887 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004302.3 +1 reviewed p.R239S 1.000 142 0% 89 32.6% 13 7.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KRT84 3890 genome.wustl.edu 37 12 52779233 52779233 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033045.3 -1 reviewed p.G46D 0.995 71 0% 70 48.6% 0 - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL KRT6B 3854 genome.wustl.edu 37 12 52845715 52845715 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005555.3 -1 reviewed p.A50T 0.002 186 0% 70 35.7% 0 - unknown(0) tolerated(0.43) - NULL KRT6A 3853 genome.wustl.edu 37 12 52881561 52881561 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005554.3 -1 reviewed p.S546 0.981 410 0% 90 51.1% 0 - - - - NULL KRT6A 3853 genome.wustl.edu 37 12 52881705 52881705 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005554.3 -1 reviewed p.G498 0.012 403 0.5% 97 35.1% 0 - - - - NULL ENSG00000248214 0 genome.wustl.edu 37 12 53008642 53008642 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000507911 +1 known NULL 0.001 10 0% 22 45.5% 0 - - - - - KRT2 3849 genome.wustl.edu 37 12 53041592 53041592 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000423.2 -1 reviewed p.K390N 0.000 161 0% 51 66.7% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_Filament KRT1 3848 genome.wustl.edu 37 12 53070144 53070144 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006121.3 -1 reviewed p.D464N 0.999 220 0% 71 49.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Prefoldin,HMMPfam_Filament KRT76 51350 genome.wustl.edu 37 12 53169369 53169369 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015848.4 -1 reviewed p.Q206 1.000 68 0% 63 38.1% 0 - - - - HMMPfam_Filament HOXC5 3222 genome.wustl.edu 37 12 54426933 54426933 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018953.2 +1 reviewed p.F9L 1.000 24 0% 44 13.6% 1 100% benign(0.001) tolerated(0.16) neutral(0.059) NULL ITGA5 3678 genome.wustl.edu 37 12 54799009 54799009 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002205.2 -1 reviewed p.F389C 1.000 35 0% 14 64.3% 14 7.1% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_Int_alpha,superfamily_SSF69318 NCKAP1L 3071 genome.wustl.edu 37 12 54891668 54891668 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005337.4 +1 reviewed p.I32N 1.000 106 0% 51 43.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nckap1 NCKAP1L 3071 genome.wustl.edu 37 12 54925974 54925974 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005337.4 +1 reviewed p.P934 0.884 339 0% 141 34% 2 0% - - - HMMPfam_Nckap1 PDE1B 5153 genome.wustl.edu 37 12 54966478 54966478 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000924.3 +1 validated p.D230N 0.994 322 0% 164 50% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 NEUROD4 58158 genome.wustl.edu 37 12 55420789 55420789 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021191.2 +1 validated p.K189T 1.000 138 0% 27 48.1% 0 - probably_damaging(0.999) tolerated(0.49) deleterious(0.501) NULL NEUROD4 58158 genome.wustl.edu 37 12 55421025 55421025 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021191.2 +1 validated p.D268Y 1.000 278 0% 49 44.9% 0 - possibly_damaging(0.908) deleterious(0) deleterious(0.806) NULL OR9K2 441639 genome.wustl.edu 37 12 55524303 55524303 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005243.1 +1 provisional p.L251I 0.082 222 0% 44 52.3% 0 - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6C6 283365 genome.wustl.edu 37 12 55688128 55688128 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005493.1 -1 provisional p.E297* 0.568 77 0% 43 46.5% 0 - - - - superfamily_SSF81321 OR6C6 283365 genome.wustl.edu 37 12 55688221 55688221 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005493.1 -1 provisional p.V266L 0.011 159 0% 48 29.2% 0 - possibly_damaging(0.939) tolerated(0.24) neutral(0.422) HMMPfam_7tm_1,superfamily_SSF81321 OR6C6 283365 genome.wustl.edu 37 12 55688437 55688437 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005493.1 -1 provisional p.E194* 0.088 129 0% 27 14.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6C3 254786 genome.wustl.edu 37 12 55725977 55725977 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_054104.1 +1 provisional p.Y165D 0.628 465 0% 147 13.6% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_7tm_1,superfamily_SSF81321 OR6C76 390326 genome.wustl.edu 37 12 55820394 55820394 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005183.1 +1 provisional p.C119* 0.391 56 0% 22 50% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6C68 403284 genome.wustl.edu 37 12 55886217 55886217 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005519.1 +1 provisional p.P24H 0.006 235 0% 110 41.8% 0 - probably_damaging(0.959) tolerated(0.06) deleterious(0.725) superfamily_Family A G protein-coupled receptor-like OR10P1 121130 genome.wustl.edu 37 12 56031542 56031542 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206899.1 +1 provisional p.I289 1.000 95 0% 41 53.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 DNAJC14 85406 genome.wustl.edu 37 12 56215920 56215920 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032364.5 -1 validated p.I650 0.997 228 0% 103 39.8% 46 43.4% - - - NULL RAB5B 5869 genome.wustl.edu 37 12 56385883 56385883 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002868.2 +1 validated p.K179E 1.000 108 0% 68 44.1% 90 51.1% benign(0.057) tolerated(0.08) neutral(0.303) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ERBB3 2065 genome.wustl.edu 37 12 56477631 56477631 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001982.2 +1 reviewed p.M60R 1.000 141 0% 80 47.5% 31 51.6% possibly_damaging(0.934) deleterious(0.01) deleterious(0.786) HMMPfam_Recep_L_domain,superfamily_L domain-like RBMS2 5939 genome.wustl.edu 37 12 56965535 56965535 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002898.3 +1 reviewed p.M146I 1.000 168 0% 84 40.5% 7 71.4% benign(0.108) tolerated(0.13) neutral(0.261) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ATP5B 506 genome.wustl.edu 37 12 57033030 57033030 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001686.3 -1 reviewed p.D450G 1.000 100 0% 100 46% 785 44% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ATP-synt_ab_C,superfamily_C-terminal domain of alpha and beta subunits of F1 ATP synthase ATP5B 506 genome.wustl.edu 37 12 57033775 57033775 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001686.3 -1 reviewed p.K426Q 1.000 91 0% 59 44.1% 737 44.9% possibly_damaging(0.703) deleterious(0.03) deleterious(0.617) HMMPfam_ATP-synt_ab_C,superfamily_C-terminal domain of alpha and beta subunits of F1 ATP synthase SNORD59A 26789 genome.wustl.edu 37 12 57038874 57038874 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_002737.1 -1 provisional NULL 1.000 32 0% 47 42.6% 1 0% - - - - NACA 4666 genome.wustl.edu 37 12 57114547 57114547 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113203.1 -1 validated p.I256S 0.703 179 0% 98 42.9% 0 - unknown(0) tolerated(0.08) - NULL ZBTB39 9880 genome.wustl.edu 37 12 57397315 57397315 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014830.1 -1 provisional p.D463Y 1.000 46 0% 31 51.6% 3 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZBTB39 9880 genome.wustl.edu 37 12 57397486 57397486 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014830.1 -1 provisional p.E406* 1.000 105 0% 82 51.2% 8 25% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MYO1A 4640 genome.wustl.edu 37 12 57431356 57431356 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005379.2 -1 reviewed p.K677N 1.000 232 0% 81 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 LRP1 4035 genome.wustl.edu 37 12 57554769 57554769 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002332.2 +1 reviewed p.I691 0.998 94 0% 25 28% 4 0% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57573650 57573650 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002332.2 +1 reviewed p.I1684 0.998 101 0% 44 29.5% 14 21.4% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain R3HDM2 22864 genome.wustl.edu 37 12 57648612 57648612 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014925.3 -1 validated p.R959* 1.000 95 0% 79 49.4% 28 42.8% - - - NULL R3HDM2 22864 genome.wustl.edu 37 12 57691902 57691902 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014925.3 -1 validated p.F157L 1.000 223 0% 198 43.4% 13 46.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00393 ARHGAP9 64333 genome.wustl.edu 37 12 57871263 57871263 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032496.2 -1 reviewed p.P245 0.491 43 0% 34 41.2% 2 0% - - - superfamily_WW_Rsp5_WWP MARS 4141 genome.wustl.edu 37 12 57882802 57882802 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004990.2 +1 reviewed p.D37G 1.000 73 0% 112 43.8% 39 43.5% benign(0) deleterious(0.01) neutral(0.406) NULL KIF5A 3798 genome.wustl.edu 37 12 57976962 57976962 + Nonstop_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004984.2 +1 reviewed p.*1033Y 1.000 150 0% 42 38.1% 0 - - - - NULL ENSG00000247039 0 genome.wustl.edu 37 12 58014528 58014528 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000501036 -1 known NULL 0.000 12 0.000 9 0.556 0 - - - - - CYP27B1 1594 genome.wustl.edu 37 12 58157527 58157527 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000785.3 -1 reviewed p.S427Y 0.371 78 0% 52 38.5% 3 0% possibly_damaging(0.903) deleterious(0.04) deleterious(0.707) HMMPfam_p450,superfamily_Cytochrome P450 AVIL 10677 genome.wustl.edu 37 12 58191780 58191780 + Splice_Site SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006576.3 -1 reviewed e19-2 1.000 135 0% 156 36.5% 0 - - - - - LRIG3 121227 genome.wustl.edu 37 12 59266381 59266381 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153377.3 -1 provisional p.N1111 1.000 143 0% 57 47.4% 30 56.6% - - - NULL MON2 23041 genome.wustl.edu 37 12 62928637 62928637 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015026.2 +1 validated p.V549A 1.000 208 0.5% 151 39.1% 6 33.3% benign(0.019) deleterious(0.01) neutral(0.407) NULL PPM1H 57460 genome.wustl.edu 37 12 63182107 63182107 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020700.1 -1 validated p.I256 0.966 170 0% 140 40% 13 46.1% - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C DPY19L2 283417 genome.wustl.edu 37 12 64020267 64020267 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173812.4 -1 validated p.F281L 1.000 37 0% 43 46.5% 0 - benign(0.043) deleterious(0.02) neutral(0.386) HMMPfam_DUF2211 C12orf56 115749 genome.wustl.edu 37 12 64746762 64746762 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099676.2 -1 validated p.S109 0.934 104 0% 147 45.6% 0 - - - - NULL XPOT 11260 genome.wustl.edu 37 12 64833092 64833092 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007235.3 +1 reviewed p.I934M 0.763 195 0% 134 53% 50 50% benign(0.026) tolerated(0.08) neutral(0.301) NULL TBK1 29110 genome.wustl.edu 37 12 64882309 64882309 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013254.2 +1 reviewed p.K461N 1.000 60 0% 60 36.7% 19 31.5% benign(0.015) tolerated(0.33) neutral(0.025) NULL GNS 2799 genome.wustl.edu 37 12 65115466 65115466 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002076.3 -1 reviewed p.V443A 1.000 171 0% 73 49.3% 60 48.3% possibly_damaging(0.751) tolerated(0.59) neutral(0.280) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core WIF1 11197 genome.wustl.edu 37 12 65461549 65461549 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007191.4 -1 reviewed p.R187Q 1.000 104 0% 20 60% 22 54.5% possibly_damaging(0.881) tolerated(0.62) neutral(0.348) HMMSmart_EGF,HMMPfam_EGF_2 LEMD3 23592 genome.wustl.edu 37 12 65640070 65640070 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014319.4 +1 reviewed p.R901W 1.000 151 0% 103 11.7% 16 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IRAK3 11213 genome.wustl.edu 37 12 66641570 66641570 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007199.2 +1 reviewed p.F470 0.570 242 0% 159 43.4% 0 - - - - superfamily_Protein kinase-like (PK-like) IRAK3 11213 genome.wustl.edu 37 12 66641872 66641872 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007199.2 +1 reviewed p.S571Y 0.009 90 0% 79 12.7% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL HELB 92797 genome.wustl.edu 37 12 66715760 66715760 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033647.2 +1 reviewed p.E730* 0.984 127 0% 184 39.1% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases HELB 92797 genome.wustl.edu 37 12 66725267 66725267 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033647.2 +1 reviewed p.E1002K 0.000 172 0% 36 41.7% 0 - benign(0.014) tolerated(0.8) neutral(0.001) NULL GRIP1 23426 genome.wustl.edu 37 12 66923614 66923614 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021150.3 -1 reviewed p.R167* 1.000 327 0% 105 40% 3 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like CAND1 55832 genome.wustl.edu 37 12 67675730 67675730 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018448.3 +1 validated p.D37Y 1.000 258 0.4% 202 44.1% 22 13.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat CAND1 55832 genome.wustl.edu 37 12 67691341 67691341 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018448.3 +1 validated p.E216* 1.000 273 0% 80 41.2% 20 5% - - - superfamily_ARM repeat CAND1 55832 genome.wustl.edu 37 12 67699485 67699485 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018448.3 +1 validated p.K679N 1.000 94 0% 41 46.3% 31 83.8% benign(0) tolerated(0.46) neutral(0.012) superfamily_ARM repeat CAND1 55832 genome.wustl.edu 37 12 67703762 67703762 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018448.3 +1 validated p.N1036T 1.000 189 0% 73 45.2% 50 76% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat DYRK2 8445 genome.wustl.edu 37 12 68052047 68052047 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006482.2 +1 reviewed p.N454H 1.000 84 0% 62 46.8% 14 28.5% possibly_damaging(0.903) tolerated(0.53) neutral(0.365) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IFNG 3458 genome.wustl.edu 37 12 68551724 68551724 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000619.2 -1 reviewed p.R112Q 0.000 166 0% 169 11.8% 1 0% benign(0.001) tolerated(0.23) neutral(0.042) HMMPfam_IFN-gamma,superfamily_4-helical cytokines IFNG 3458 genome.wustl.edu 37 12 68552003 68552003 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000619.2 -1 reviewed p.L51I 0.651 94 0% 115 38.3% 1 0% possibly_damaging(0.56) tolerated(0.33) neutral(0.215) HMMPfam_IFN-gamma,superfamily_4-helical cytokines IFNG 3458 genome.wustl.edu 37 12 68553283 68553283 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000619.2 -1 reviewed p.F38C 0.998 64 0% 80 48.7% 0 - possibly_damaging(0.921) deleterious(0) deleterious(0.816) HMMPfam_IFN-gamma,superfamily_4-helical cytokines MDM1 56890 genome.wustl.edu 37 12 68707475 68707475 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017440.4 -1 reviewed p.E520* 1.000 108 0% 116 45.7% 6 33.3% - - - NULL CPM 1368 genome.wustl.edu 37 12 69326590 69326590 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005502.2 -1 reviewed p.L10 1.000 76 0% 63 46% 0 - - - - NULL FRS2 10818 genome.wustl.edu 37 12 69965133 69965133 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042555.1 +1 validated p.N111H 1.000 129 0% 93 34.4% 12 58.3% benign(0.248) deleterious(0.02) neutral(0.408) superfamily_SSF50729 CCT2 10576 genome.wustl.edu 37 12 69981998 69981998 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006431.2 +1 reviewed p.T134 1.000 67 0% 74 47.3% 224 44.1% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like CCT2 10576 genome.wustl.edu 37 12 69986773 69986773 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006431.2 +1 reviewed p.V256 0.993 108 0% 140 52.9% 229 50.2% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like BEST3 144453 genome.wustl.edu 37 12 70049312 70049312 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032735.2 -1 validated p.T461K 0.068 202 0% 31 41.9% 0 - benign(0) tolerated(1) - NULL BEST3 144453 genome.wustl.edu 37 12 70091472 70091472 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032735.2 -1 validated p.F36S 1.000 70 0% 85 45.9% 0 - possibly_damaging(0.897) deleterious(0) deleterious(0.798) HMMPfam_Bestrophin PTPRB 5787 genome.wustl.edu 37 12 70974964 70974964 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001109754.1 -1 reviewed p.E810D 1.000 209 0% 78 48.7% 0 - benign(0.152) tolerated(0.69) neutral(0.015) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRB 5787 genome.wustl.edu 37 12 70986133 70986133 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001109754.1 -1 reviewed p.R570Q 0.998 106 0.9% 41 46.3% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRB 5787 genome.wustl.edu 37 12 70990064 70990064 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001109754.1 -1 reviewed p.T341 0.004 168 0% 76 39.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRR 5801 genome.wustl.edu 37 12 71054868 71054868 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002849.2 -1 reviewed p.H540N 1.000 341 0% 28 42.9% 3 100% benign(0.003) tolerated(0.12) neutral(0.261) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRR 5801 genome.wustl.edu 37 12 71056341 71056341 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002849.2 -1 reviewed p.K514N 0.992 333 0% 153 49% 2 0% benign(0.095) tolerated(0.36) neutral(0.027) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRR 5801 genome.wustl.edu 37 12 71155265 71155265 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002849.2 -1 reviewed p.E205* 1.000 143 0% 86 39.5% 0 - - - - NULL ZFC3H1 196441 genome.wustl.edu 37 12 72013096 72013096 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144982.4 -1 validated p.R1715W 1.000 114 0% 76 50% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TBC1D15 64786 genome.wustl.edu 37 12 72278606 72278606 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000472611 +1 known p.E74* 1.000 252 0% 98 37.8% 11 27.2% - - - NULL TBC1D15 64786 genome.wustl.edu 37 12 72278772 72278772 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022771.4 +1 reviewed p.E175D 0.225 364 0% 131 42% 14 64.2% benign(0) tolerated(0.52) neutral(0.009) NULL TBC1D15 64786 genome.wustl.edu 37 12 72290536 72290536 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022771.4 +1 reviewed p.R372K 1.000 106 0% 46 41.3% 16 81.2% benign(0.226) tolerated(0.18) neutral(0.079) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p KCNC2 3747 genome.wustl.edu 37 12 75436911 75436911 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139137.2 -1 reviewed p.R631* 1.000 188 0% 31 54.8% 0 - - - - NULL GLIPR1 11010 genome.wustl.edu 37 12 75874699 75874699 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006851.2 +1 reviewed p.S13 0.000 195 0% 52 44.2% 5 20% - - - superfamily_SCP-like_extracellular KRR1 11103 genome.wustl.edu 37 12 75893673 75893673 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007043.6 -1 validated p.K354N 0.998 303 0.7% 103 40.8% 81 46.9% possibly_damaging(0.952) tolerated(0.16) neutral(0.455) NULL OSBPL8 114882 genome.wustl.edu 37 12 76784319 76784319 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020841.4 -1 reviewed p.S350G 1.000 479 0% 251 43% 7 71.4% benign(0.007) tolerated(0.24) neutral(0.037) NULL OSBPL8 114882 genome.wustl.edu 37 12 76791674 76791674 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020841.4 -1 reviewed p.R158C 1.000 125 0% 89 51.7% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ZDHHC17 23390 genome.wustl.edu 37 12 77235801 77235801 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015336.2 +1 validated p.N394S 1.000 243 0% 124 48.4% 4 50% benign(0.013) tolerated(1) neutral(0.001) NULL CSRP2 1466 genome.wustl.edu 37 12 77253340 77253340 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001321.1 -1 reviewed p.E164D 1.000 217 0% 180 47.8% 225 46.2% benign(0.006) tolerated(0.2) neutral(0.049) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NAV3 89795 genome.wustl.edu 37 12 78513106 78513106 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014903.4 +1 validated p.S1044R 1.000 77 0% 37 40.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NAV3 89795 genome.wustl.edu 37 12 78516053 78516053 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014903.4 +1 validated p.P1361 0.113 112 0% 24 45.8% 0 - - - - NULL NAV3 89795 genome.wustl.edu 37 12 78516178 78516178 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014903.4 +1 validated p.T1403M 1.000 92 0% 31 45.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MIR1252 100302136 genome.wustl.edu 37 12 79813097 79813097 + RNA SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000408861 +1 known NULL 0.004 368 0% 120 38.3% 0 - - - - - OTOGL 283310 genome.wustl.edu 37 12 80648836 80648836 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000455751 +1 known p.*169S 0.967 210 0% 99 56.6% 0 - - - - HMMPfam_VWD OTOGL 283310 genome.wustl.edu 37 12 80648928 80648928 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343203.1 +1 model p.K458T 0.999 168 0% 81 35.8% 0 - benign(0.004) tolerated(1) - HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80650175 80650175 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343203.1 +1 model p.K490R 1.000 281 0% 78 42.3% 0 - benign(0.424) tolerated(0.76) neutral(0.139) HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80661044 80661044 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343203.1 +1 model p.R742H 0.955 101 0% 35 42.9% 0 - benign(0.257) deleterious(0.03) neutral(0.391) superfamily_Serine proterase inhibitors OTOGL 283310 genome.wustl.edu 37 12 80690709 80690709 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343203.1 +1 model p.E916* 1.000 87 0% 71 53.5% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80732870 80732870 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343203.1 +1 model p.I1523V 0.007 215 0% 96 50% 0 - benign(0) tolerated(0.38) neutral(0.018) HMMPfam_VWD,HMMSmart_SM00216 PTPRQ 374462 genome.wustl.edu 37 12 80889019 80889019 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000266688 +1 known p.S584Y 1.000 39 0% 22 40.9% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 80889785 80889785 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000266688 +1 known p.K630N 1.000 60 0% 27 40.7% 0 - possibly_damaging(0.845) tolerated(0.19) neutral(0.373) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 80890055 80890055 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000266688 +1 known p.E673K 0.010 34 0.000 9 0.556 1 0% benign(0) tolerated(0.62) neutral(0.004) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 80982119 80982119 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000266688 +1 known p.E1499D 0.209 119 0% 44 40.9% 0 - benign(0) tolerated(0.67) neutral(0.003) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 81028766 81028766 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000266688 +1 known p.Q1943H 0.994 139 0% 32 50% 1 100% benign(0.004) tolerated(0.13) neutral(0.253) NULL PTPRQ 374462 genome.wustl.edu 37 12 81046547 81046547 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000266688 +1 known p.L2017I 1.000 93 0% 40 55% 0 - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRQ 374462 genome.wustl.edu 37 12 81062915 81062915 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000266688 +1 known p.G2108* 1.000 90 0% 15 40% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II MYF6 4618 genome.wustl.edu 37 12 81102374 81102374 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002469.2 +1 reviewed p.L197 0.998 45 0% 25 40% 0 - - - - NULL PPFIA2 8499 genome.wustl.edu 37 12 81675102 81675102 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003625.2 -1 reviewed p.R1049I 1.000 109 0% 56 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain PPFIA2 8499 genome.wustl.edu 37 12 81851582 81851582 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003625.2 -1 reviewed p.E123* 1.000 212 0% 213 19.7% 0 - - - - NULL C12orf26 84190 genome.wustl.edu 37 12 82792980 82792980 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032230.2 +1 validated p.S313Y 0.999 77 0% 55 47.3% 1 100% benign(0.136) deleterious(0.03) neutral(0.376) NULL LRRIQ1 84125 genome.wustl.edu 37 12 85441177 85441177 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079910.1 +1 validated p.E203* 1.000 129 0% 75 44% 0 - - - - superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85518260 85518260 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079910.1 +1 validated p.L1324 0.000 16 0% 20 50% 3 66.6% - - - NULL LRRIQ1 84125 genome.wustl.edu 37 12 85531657 85531657 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079910.1 +1 validated p.K1413N 1.000 256 0% 49 30.6% 3 0% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases RASSF9 9182 genome.wustl.edu 37 12 86198722 86198722 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005447.3 -1 reviewed p.E356* 1.000 162 0% 126 46% 14 71.4% - - - NULL NTS 4922 genome.wustl.edu 37 12 86276134 86276134 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006183.3 +1 reviewed p.R165I 1.000 100 0% 83 47% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Pro-NT_NN MGAT4C 25834 genome.wustl.edu 37 12 86373806 86373806 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013244.3 -1 validated p.F233C 1.000 63 0% 31 48.4% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Glyco_transf_54 C12orf29 91298 genome.wustl.edu 37 12 88434028 88434028 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009894.2 +1 validated p.V65G 1.000 73 0% 49 44.9% 10 80% possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL CEP290 80184 genome.wustl.edu 37 12 88457893 88457893 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025114.3 -1 reviewed e44-1 1.000 105 0% 59 33.9% 0 - - - - - CEP290 80184 genome.wustl.edu 37 12 88465107 88465107 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025114.3 -1 reviewed p.R1992I 1.000 215 0% 114 44.7% 6 33.3% possibly_damaging(0.843) deleterious(0.03) deleterious(0.688) NULL CEP290 80184 genome.wustl.edu 37 12 88471530 88471530 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025114.3 -1 reviewed p.D1844Y 0.988 130 0% 113 46% 6 33.3% possibly_damaging(0.91) deleterious(0.02) deleterious(0.746) NULL CEP290 80184 genome.wustl.edu 37 12 88472897 88472897 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025114.3 -1 reviewed p.I1779T 0.997 194 0% 52 36.5% 10 100% benign(0.051) tolerated(0.15) neutral(0.244) NULL CEP290 80184 genome.wustl.edu 37 12 88535021 88535021 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025114.3 -1 reviewed p.E22K 1.000 99 0% 196 52% 4 0% possibly_damaging(0.608) deleterious(0.02) deleterious(0.594) NULL TMTC3 160418 genome.wustl.edu 37 12 88588653 88588653 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181783.3 +1 reviewed p.L658I 0.934 54 0% 28 50% 11 54.5% probably_damaging(0.975) tolerated(0.13) deleterious(0.669) superfamily_Prenyl_trans KITLG 4254 genome.wustl.edu 37 12 88900904 88900904 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000899.3 -1 reviewed p.K205N 0.000 63 0% 16 43.8% 4 75% benign(0.014) tolerated(0.5) neutral(0.011) HMMPfam_SCF POC1B 282809 genome.wustl.edu 37 12 89866048 89866048 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172240.1 -1 provisional p.S153P 1.000 151 0% 86 47.7% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ENSG00000226982 0 genome.wustl.edu 37 12 89894484 89894484 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000413048 +1 known p.K174N 0.074 98 0% 200 47% 0 - - - - NULL GALNT4 8693 genome.wustl.edu 37 12 89917842 89917842 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003774.3 -1 reviewed p.S162Y 0.995 117 0% 147 40.8% 5 40% possibly_damaging(0.785) deleterious(0) deleterious(0.738) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases ATP2B1 490 genome.wustl.edu 37 12 89985069 89985069 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001682.2 -1 reviewed p.R1119* 1.000 109 0% 32 56.2% 19 42.1% - - - NULL ATP2B1 490 genome.wustl.edu 37 12 89997646 89997646 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001682.2 -1 reviewed p.L897 0.028 178 0% 44 45.5% 10 40% - - - HMMPfam_Cation_ATPase_C,superfamily_SSF81665 EPYC 1833 genome.wustl.edu 37 12 91365750 91365750 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004950.4 -1 reviewed p.N177H 0.998 128 0% 47 44.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like EPYC 1833 genome.wustl.edu 37 12 91396270 91396270 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004950.4 -1 reviewed p.S25P 0.000 154 0% 19 47.4% 1 0% benign(0) tolerated(0.19) neutral(0.050) NULL LUM 4060 genome.wustl.edu 37 12 91498044 91498044 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002345.3 -1 reviewed p.K305N 1.000 103 0% 26 26.9% 150 0% benign(0.248) tolerated(0.11) neutral(0.297) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LUM 4060 genome.wustl.edu 37 12 91502421 91502421 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002345.3 -1 reviewed p.F112L 1.000 142 0% 43 51.2% 113 0% possibly_damaging(0.45) tolerated(0.62) neutral(0.151) HMMSmart_SM00369,superfamily_L domain-like DCN 1634 genome.wustl.edu 37 12 91550898 91550898 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001920.3 -1 reviewed p.L202 0.988 157 0% 112 42.9% 101 0% - - - superfamily_L domain-like DCN 1634 genome.wustl.edu 37 12 91558423 91558423 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001920.3 -1 reviewed p.E95K 1.000 277 0% 177 42.9% 68 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like EEA1 8411 genome.wustl.edu 37 12 93192792 93192792 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003566.3 -1 validated p.K948T 1.000 152 0% 161 45.3% 5 20% probably_damaging(0.98) tolerated(0.45) neutral(0.436) NULL PLXNC1 10154 genome.wustl.edu 37 12 94543393 94543393 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005761.1 +1 provisional p.A216T 0.453 18 0% 16 62.5% 0 - benign(0.001) tolerated(0.28) neutral(0.032) superfamily_Sema CCDC41 51134 genome.wustl.edu 37 12 94763806 94763806 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042399.1 -1 validated p.E314* 1.000 570 0% 175 37.7% 9 22.2% - - - NULL FGD6 55785 genome.wustl.edu 37 12 95604128 95604128 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018351.3 -1 validated p.K311T 0.074 62 0% 62 53.2% 3 33.3% possibly_damaging(0.513) deleterious(0) deleterious(0.617) NULL FGD6 55785 genome.wustl.edu 37 12 95604599 95604599 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018351.3 -1 validated p.K154T 0.024 188 0% 232 47.4% 6 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FGD6 55785 genome.wustl.edu 37 12 95604922 95604922 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018351.3 -1 validated p.K46N 1.000 231 0% 147 11.6% 2 0% possibly_damaging(0.831) deleterious(0) deleterious(0.760) NULL VEZT 55591 genome.wustl.edu 37 12 95676127 95676127 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017599.3 +1 validated p.F345L 1.000 85 0% 77 50.6% 34 47% possibly_damaging(0.444) tolerated(0.16) neutral(0.204) NULL USP44 84101 genome.wustl.edu 37 12 95927919 95927919 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042403.1 -1 validated p.I38 0.367 177 0% 72 40.3% 0 - - - - HMMPfam_zf-UBP,HMMSmart_SM00290 CCDC38 120935 genome.wustl.edu 37 12 96260864 96260864 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182496.2 -1 validated p.F561Y 1.000 66 0% 47 40.4% 0 - probably_damaging(0.99) tolerated(0.13) deleterious(0.694) NULL ELK3 2004 genome.wustl.edu 37 12 96660949 96660949 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005230.2 +1 reviewed p.Q405H 1.000 181 0% 39 46.2% 4 75% benign(0) tolerated(0.14) neutral(0.249) NULL C12orf63 374467 genome.wustl.edu 37 12 97147573 97147573 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198520.2 +1 validated p.S1004 0.001 186 0% 78 38.5% 0 - - - - NULL C12orf63 374467 genome.wustl.edu 37 12 97151339 97151339 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198520.2 +1 validated p.K1096N 0.000 132 0% 84 44% 0 - unknown(0) deleterious(0) - NULL LOC121456 121456 genome.wustl.edu 37 12 98848888 98848888 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_016411.2 -1 model NULL 0.996 78 0% 54 51.9% 0 - - - - - LOC121456 121456 genome.wustl.edu 37 12 98850287 98850287 + RNA SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_016411.2 -1 model NULL 0.923 63 0% 119 45.4% 0 - - - - - TMPO 7112 genome.wustl.edu 37 12 98926744 98926744 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003276.2 +1 reviewed p.E237K 1.000 35 0% 44 34.1% 30 40% possibly_damaging(0.791) deleterious(0.01) deleterious(0.702) NULL TMPO 7112 genome.wustl.edu 37 12 98927398 98927398 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003276.2 +1 reviewed p.E455K 0.046 139 0% 120 34.2% 45 51.1% benign(0.042) deleterious(0.04) neutral(0.351) NULL SLC25A3 5250 genome.wustl.edu 37 12 98987752 98987752 + Splice_Site SNP G G T rs111736750 byCluster TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005888.3 +1 reviewed e1-1 0.941 19 0% 10 40% 43 86% - - - - IKBIP 121457 genome.wustl.edu 37 12 99007970 99007970 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201612.1 -1 provisional p.T149M 0.001 70 0% 147 38.8% 7 42.8% benign(0.003) deleterious(0.01) neutral(0.406) NULL IKBIP 121457 genome.wustl.edu 37 12 99020498 99020498 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153687.2 -1 provisional p.S115Y 1.000 58 0% 130 35.4% 5 60% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100451456 100451456 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015054.1 -1 validated p.R1106I 1.000 283 0% 134 51.5% 8 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SCYL2 55681 genome.wustl.edu 37 12 100717379 100717379 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017988.4 +1 provisional p.R491I 1.000 119 0% 149 43% 22 27.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_ARM repeat SLC17A8 246213 genome.wustl.edu 37 12 100813706 100813706 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139319.2 +1 reviewed p.E513D 1.000 98 0% 37 48.6% 0 - possibly_damaging(0.45) deleterious(0.01) deleterious(0.553) superfamily_MFS general substrate transporter NR1H4 9971 genome.wustl.edu 37 12 100904867 100904867 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005123.2 +1 provisional p.G131* 1.000 76 0% 39 48.7% 0 - - - - HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) GAS2L3 283431 genome.wustl.edu 37 12 101016159 101016159 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174942.1 +1 provisional p.R252I 1.000 197 0% 55 34.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GAS2,HMMSmart_SM00243 GAS2L3 283431 genome.wustl.edu 37 12 101017933 101017933 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174942.1 +1 provisional p.Q450H 0.072 157 0% 36 52.8% 4 75% benign(0.001) tolerated(0.12) neutral(0.261) NULL ANO4 121601 genome.wustl.edu 37 12 101413866 101413866 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178826.3 +1 validated p.I228 0.943 145 0% 54 55.6% 0 - - - - NULL ANO4 121601 genome.wustl.edu 37 12 101504184 101504184 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178826.3 +1 validated p.L683I 1.000 276 0% 82 50% 0 - benign(0.045) tolerated(1) neutral(0.003) HMMPfam_DUF590 SLC5A8 160728 genome.wustl.edu 37 12 101581248 101581248 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145913.3 -1 validated p.C293 0.996 163 0% 32 31.2% 0 - - - - NULL UTP20 27340 genome.wustl.edu 37 12 101696297 101696297 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014503.2 +1 validated p.L583V 0.998 223 0% 316 44.6% 2 50% possibly_damaging(0.706) tolerated(0.17) neutral(0.313) superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101727194 101727194 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014503.2 +1 validated p.A1178V 1.000 172 0% 120 46.7% 4 50% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101740305 101740305 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014503.2 +1 validated p.S1608Y 1.000 128 0% 79 40.5% 4 0% benign(0.335) deleterious(0) deleterious(0.550) superfamily_ARM repeat MYBPC1 4604 genome.wustl.edu 37 12 102043085 102043085 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002465.2 +1 validated p.R415Q 0.000 154 0% 99 45.5% 0 - benign(0.1) deleterious(0.02) neutral(0.391) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin GNPTAB 79158 genome.wustl.edu 37 12 102158935 102158935 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024312.4 -1 reviewed p.R587Q 1.000 508 0.2% 248 44.4% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC53 51019 genome.wustl.edu 37 12 102406899 102406899 + Missense_Mutation SNP G G T rs1801519 byCluster TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016053.2 -1 validated p.S191Y 1.000 109 0% 78 44.9% 29 31% unknown(0) tolerated(0.07) - NULL PARPBP 55010 genome.wustl.edu 37 12 102589201 102589201 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017915.2 +1 predicted p.L378I 0.743 321 0% 69 31.9% 7 28.5% probably_damaging(0.964) tolerated(0.33) neutral(0.430) NULL PMCH 5367 genome.wustl.edu 37 12 102590877 102590877 + Missense_Mutation SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002674.2 -1 validated p.L108V 0.986 357 0% 80 12.5% 14 14.2% possibly_damaging(0.653) deleterious(0) deleterious(0.674) HMMPfam_Pro-MCH IGF1 3479 genome.wustl.edu 37 12 102869474 102869474 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001111285.1 -1 reviewed p.A56D 1.000 87 0% 19 63.2% 25 32% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like C12orf42 374470 genome.wustl.edu 37 12 103699876 103699876 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099336.1 -1 validated p.Q169H 0.000 154 0% 49 44.9% 0 - possibly_damaging(0.677) deleterious(0.05) deleterious(0.587) NULL STAB2 55576 genome.wustl.edu 37 12 104123926 104123926 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017564.9 +1 reviewed p.I1705 0.380 275 0% 109 37.6% 0 - - - - HMMPfam_Fasciclin,HMMSmart_FAS1,superfamily_BIgH3_FAS1 STAB2 55576 genome.wustl.edu 37 12 104149229 104149229 + Missense_Mutation SNP C C A rs34342881 byCluster;byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017564.9 +1 reviewed p.F2288L 1.000 93 0% 45 37.8% 0 - probably_damaging(0.987) deleterious(0.03) deleterious(0.801) HMMPfam_Xlink,HMMSmart_LINK,superfamily_BIgH3_FAS1,superfamily_C-type_lectin_fold TDG 6996 genome.wustl.edu 37 12 104376985 104376985 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003211.4 +1 reviewed p.F229S 1.000 111 0% 115 40% 21 47.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDG,superfamily_UDNA_glycsylseSF HCFC2 29915 genome.wustl.edu 37 12 104474537 104474537 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013320.2 +1 reviewed p.W232C 1.000 115 0% 140 40% 5 80% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 TXNRD1 7296 genome.wustl.edu 37 12 104713269 104713269 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000429002 +1 known p.E303* 1.000 41 0% 67 35.8% 29 6.8% - - - HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain CHST11 50515 genome.wustl.edu 37 12 104995756 104995756 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018413.5 +1 validated p.Y64C 1.000 85 1.2% 70 31.4% 3 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Sulfotransfer_2 CHST11 50515 genome.wustl.edu 37 12 105151233 105151233 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018413.5 +1 validated p.F237 1.000 287 0% 82 48.8% 7 14.2% - - - HMMPfam_Sulfotransfer_2 NUAK1 9891 genome.wustl.edu 37 12 106466581 106466581 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014840.2 -1 validated p.K207T 1.000 101 0% 56 44.6% 4 0% benign(0.153) tolerated(0.23) neutral(0.055) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NUAK1 9891 genome.wustl.edu 37 12 106480645 106480645 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014840.2 -1 validated p.K127T 1.000 234 0% 48 39.6% 1 100% possibly_damaging(0.95) tolerated(0.14) deleterious(0.643) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TCP11L2 255394 genome.wustl.edu 37 12 106740184 106740184 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152772.1 +1 provisional p.Q479R 0.977 185 0% 71 43.7% 8 50% benign(0.015) tolerated(0.28) neutral(0.032) HMMPfam_Tcp11 RIC8B 55188 genome.wustl.edu 37 12 107245259 107245259 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018157.2 +1 validated p.R398Q 1.000 418 0% 64 50% 11 36.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold,HMMPfam_Ric8 CRY1 1407 genome.wustl.edu 37 12 107398927 107398927 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004075.3 -1 validated p.E123* 1.000 167 0% 145 36.6% 16 50% - - - HMMPfam_DNA_photolyase,superfamily_Cryptochrome/photolyase N-terminal domain BTBD11 121551 genome.wustl.edu 37 12 108008924 108008924 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001018072.1 +1 validated p.H662 1.000 396 0% 218 47.2% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat WSCD2 9671 genome.wustl.edu 37 12 108626562 108626562 + Missense_Mutation SNP C C G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014653.2 +1 validated p.A345G 1.000 132 0% 22 59.1% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_P-loop containing nucleoside triphosphate hydrolases WSCD2 9671 genome.wustl.edu 37 12 108634200 108634200 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014653.2 +1 validated p.I408 0.998 52 0% 11 36.4% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SART3 9733 genome.wustl.edu 37 12 108924988 108924988 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014706.3 -1 reviewed p.R580I 1.000 239 0% 212 43.4% 35 14.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SART3 9733 genome.wustl.edu 37 12 108929246 108929246 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014706.3 -1 reviewed e12-2 0.999 137 0% 41 31.7% 3 66.6% - - - - SELPLG 6404 genome.wustl.edu 37 12 109018080 109018080 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003006.3 -1 reviewed p.P2S 0.941 134 0% 53 47.2% 3 0% unknown(0) tolerated(1) - NULL SSH1 54434 genome.wustl.edu 37 12 109192846 109192846 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018984.3 -1 validated p.R427C 1.000 83 0% 34 35.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II ACACB 32 genome.wustl.edu 37 12 109613968 109613968 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001093.3 +1 reviewed p.R446I 0.900 294 0% 110 34.5% 2 0% possibly_damaging(0.667) tolerated(0.09) deleterious(0.532) HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like UBE3B 89910 genome.wustl.edu 37 12 109940977 109940977 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130466.2 +1 reviewed p.R478W 1.000 141 0% 89 43.8% 4 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE3B 89910 genome.wustl.edu 37 12 109945451 109945451 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130466.2 +1 reviewed p.F511L 0.990 241 0% 104 50% 6 50% possibly_damaging(0.601) deleterious(0.02) deleterious(0.591) NULL UBE3B 89910 genome.wustl.edu 37 12 109947484 109947484 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130466.2 +1 reviewed p.S569Y 1.000 468 0% 450 44.4% 7 42.8% benign(0.135) tolerated(0.08) neutral(0.311) NULL C12orf34 84915 genome.wustl.edu 37 12 110181994 110182002 + In_Frame_Del DEL CACCTGGCC CACCTGGCC - novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 CACCTGGCC CACCTGGCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032829.2 +1 validated p.HLA15in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL TRPV4 59341 genome.wustl.edu 37 12 110226369 110226369 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021625.4 -1 reviewed p.D682N 1.000 110 0% 68 44.1% 2 50% probably_damaging(0.979) tolerated(0.05) deleterious(0.767) HMMPfam_Ion_trans IFT81 28981 genome.wustl.edu 37 12 110584776 110584776 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143779.1 +1 validated p.E322* 0.932 75 0% 83 44.6% 10 0% - - - NULL IFT81 28981 genome.wustl.edu 37 12 110618250 110618250 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143779.1 +1 validated p.L404 1.000 93 0% 114 46.5% 13 69.2% - - - NULL HVCN1 84329 genome.wustl.edu 37 12 111087247 111087247 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040107.1 -1 validated p.R264* 0.894 182 0% 95 48.4% 3 0% - - - NULL CCDC63 160762 genome.wustl.edu 37 12 111291336 111291336 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152591.1 +1 provisional p.K46T 0.921 131 0% 144 33.3% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL CUX2 23316 genome.wustl.edu 37 12 111786100 111786100 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015267.3 +1 validated p.R1478W 1.000 8 0.000 18 0.500 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATXN2 6311 genome.wustl.edu 37 12 111963089 111963089 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002973.3 -1 reviewed p.K361N 1.000 163 0% 110 50.9% 8 50% possibly_damaging(0.938) deleterious(0.01) deleterious(0.789) NULL BRAP 8315 genome.wustl.edu 37 12 112103473 112103473 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006768.3 -1 reviewed p.S289I 1.000 115 0% 38 31.6% 38 50% benign(0.009) tolerated(0.11) neutral(0.272) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 ACAD10 80724 genome.wustl.edu 37 12 112147450 112147450 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136538.1 +1 reviewed p.L218I 0.898 51 0% 61 50.8% 6 16.6% benign(0.047) deleterious(0.01) neutral(0.409) HMMPfam_Hydrolase,superfamily_HAD-like NAA25 80018 genome.wustl.edu 37 12 112485506 112485506 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024953.3 -1 reviewed p.D657Y 1.000 306 0% 369 44.4% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NatB_MDM20 NAA25 80018 genome.wustl.edu 37 12 112492280 112492280 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024953.3 -1 reviewed p.R514* 1.000 117 0% 61 37.7% 6 16.6% - - - HMMPfam_NatB_MDM20,superfamily_TPR-like NAA25 80018 genome.wustl.edu 37 12 112498133 112498133 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024953.3 -1 reviewed p.F463C 1.000 145 0% 135 13.3% 5 0% benign(0.377) tolerated(0.13) neutral(0.373) HMMPfam_NatB_MDM20,superfamily_TPR-like NAA25 80018 genome.wustl.edu 37 12 112499139 112499139 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024953.3 -1 reviewed p.K401 0.151 196 0% 81 45.7% 6 66.6% - - - HMMPfam_NatB_MDM20,superfamily_TPR-like C12orf51 283450 genome.wustl.edu 37 12 112600232 112600232 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001109662.2 -1 validated p.R3984C 1.000 89 0% 45 42.2% 26 57.6% probably_damaging(0.999) - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain MIR1302-1 100302227 genome.wustl.edu 37 12 113132861 113132861 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000408633 -1 known NULL 0.931 101 0% 87 55.2% 0 - - - - - OAS3 4940 genome.wustl.edu 37 12 113384669 113384669 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006187.2 +1 reviewed p.R253Q 0.735 229 0% 70 54.3% 3 33.3% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain OAS2 4939 genome.wustl.edu 37 12 113445509 113445509 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016817.2 +1 reviewed e9-1 0.955 61 0% 33 39.4% 0 - - - - - C12orf52 84934 genome.wustl.edu 37 12 113629184 113629184 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032848.1 +1 predicted p.F124 0.128 36 2.8% 18 22.2% 60 43.3% - - - NULL SDSL 113675 genome.wustl.edu 37 12 113874658 113874658 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138432.2 +1 provisional p.V258 0.648 136 0% 21 66.7% 19 47.3% - - - HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu TBX5 6910 genome.wustl.edu 37 12 114837335 114837335 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000192.3 -1 reviewed p.K115N 0.998 274 0% 168 39.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors TBX5 6910 genome.wustl.edu 37 12 114841626 114841626 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000192.3 -1 reviewed p.S26 0.000 61 0% 16 25% 0 - - - - NULL MED13L 23389 genome.wustl.edu 37 12 116422129 116422129 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015335.3 -1 validated p.G1463R 0.998 213 0.5% 23 56.5% 18 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAP_240kDa MED13L 23389 genome.wustl.edu 37 12 116446725 116446725 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015335.3 -1 validated p.C498F 1.000 577 0.2% 208 36.1% 6 50% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) NULL NOS1 4842 genome.wustl.edu 37 12 117698288 117698288 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000620.2 -1 reviewed p.K783 0.997 257 0% 59 39% 0 - - - - HMMPfam_Flavodoxin_1,superfamily_Flavoproteins KSR2 283455 genome.wustl.edu 37 12 117908997 117908997 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173598.4 -1 validated p.S875L 1.000 757 0% 194 37.6% 0 - benign(0.091) deleterious(0.05) neutral(0.352) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KSR2 283455 genome.wustl.edu 37 12 117968754 117968754 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173598.4 -1 validated p.S569 0.104 127 0% 62 41.9% 0 - - - - NULL WSB2 55884 genome.wustl.edu 37 12 118476094 118476094 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018639.3 -1 reviewed p.S220L 1.000 51 0% 23 39.1% 118 37.2% possibly_damaging(0.915) deleterious(0.03) deleterious(0.731) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 SUDS3 64426 genome.wustl.edu 37 12 118828980 118828980 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022491.2 +1 validated p.K137T 1.000 111 0% 160 36.9% 39 61.5% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMPfam_Sds3 SUDS3 64426 genome.wustl.edu 37 12 118829057 118829057 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022491.2 +1 validated p.N163H 1.000 66 0% 128 39.1% 44 61.3% benign(0.011) tolerated(0.12) neutral(0.261) HMMPfam_Sds3 SRRM4 84530 genome.wustl.edu 37 12 119419721 119419721 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194286.2 +1 validated p.F12L 1.000 69 0% 19 21.1% 0 - unknown(0) deleterious(0) - NULL CIT 11113 genome.wustl.edu 37 12 120151011 120151011 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007174.1 -1 validated p.E1484* 1.000 297 0.3% 195 42.6% 4 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SIRT4 23409 genome.wustl.edu 37 12 120750799 120750799 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012240.1 +1 reviewed p.S302Y 0.938 272 0% 133 42.1% 2 100% benign(0.001) deleterious(0) neutral(0.445) superfamily_SSF52467 CABP1 9478 genome.wustl.edu 37 12 121098115 121098115 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033677.1 +1 reviewed p.E268K 1.000 105 0% 51 43.1% 4 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_EF-hand P2RX7 5027 genome.wustl.edu 37 12 121570884 121570884 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002562.4 +1 reviewed p.I37 0.983 177 0% 99 49.5% 0 - - - - HMMPfam_P2X_receptor ANAPC5 51433 genome.wustl.edu 37 12 121769176 121769176 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016237.4 -1 reviewed p.D336N 1.000 72 0% 26 42.3% 168 41% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_TPR-like ANAPC5 51433 genome.wustl.edu 37 12 121775128 121775128 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016237.4 -1 reviewed p.N242T 1.000 83 0% 102 39.2% 120 47.5% probably_damaging(0.979) tolerated(0.08) deleterious(0.722) superfamily_TPR-like KDM2B 84678 genome.wustl.edu 37 12 121986793 121986793 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032590.4 -1 reviewed p.P224 0.521 221 0.5% 161 50.9% 12 75% - - - HMMSmart_SM00558,superfamily_Clavaminate synthase-like WDR66 144406 genome.wustl.edu 37 12 122361615 122361615 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144668.4 +1 validated p.I156F 0.000 230 0% 178 48.9% 4 50% benign(0.001) deleterious(0.03) neutral(0.364) superfamily_WD40 repeat-like WDR66 144406 genome.wustl.edu 37 12 122361875 122361875 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144668.4 +1 validated p.K242N 0.000 111 0% 73 43.8% 8 87.5% benign(0.008) tolerated(0.29) neutral(0.029) superfamily_WD40 repeat-like WDR66 144406 genome.wustl.edu 37 12 122396368 122396368 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144668.4 +1 validated p.L641I 0.044 155 0% 121 46.3% 7 57.1% benign(0.176) tolerated(0.4) neutral(0.032) HMMSmart_SM00320,superfamily_WD40 repeat-like MLXIP 22877 genome.wustl.edu 37 12 122622980 122622980 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000319080 +1 known p.A756T 1.000 45 0% 24 37.5% 32 40.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain IL31 386653 genome.wustl.edu 37 12 122657113 122657113 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014336.1 -1 validated p.L114R 0.001 271 0% 298 50.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL KNTC1 9735 genome.wustl.edu 37 12 123026668 123026668 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014708.4 +1 reviewed p.Q173K 0.998 38 0% 171 45.6% 1 0% unknown(0) tolerated(0.26) - NULL KNTC1 9735 genome.wustl.edu 37 12 123055607 123055607 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014708.4 +1 reviewed p.E651D 0.997 123 0% 164 45.7% 1 100% unknown(0) tolerated(0.29) - NULL KNTC1 9735 genome.wustl.edu 37 12 123071257 123071257 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014708.4 +1 reviewed p.R1228I 0.361 151 0% 266 42.5% 13 38.4% benign(0.271) tolerated(0.27) neutral(0.062) NULL HCAR1 27198 genome.wustl.edu 37 12 123214363 123214363 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032554.3 -1 validated p.G175V 1.000 82 0% 29 41.4% 0 - possibly_damaging(0.61) tolerated(0.19) neutral(0.261) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000250840 0 genome.wustl.edu 37 12 123214953 123214953 + RNA SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000502465 +1 novel NULL 0.000 12 0% 15 33.3% 0 - - - - - PITPNM2 57605 genome.wustl.edu 37 12 123489836 123489836 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020845.2 -1 validated p.K301N 1.000 29 0% 34 38.2% 2 0% benign(0.177) tolerated(0.47) neutral(0.028) NULL SBNO1 55206 genome.wustl.edu 37 12 123798259 123798259 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018183.3 -1 validated p.R1042I 1.000 103 0% 118 48.3% 14 71.4% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SBNO1 55206 genome.wustl.edu 37 12 123832584 123832584 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018183.3 -1 validated p.N77H 1.000 116 0% 174 40.8% 9 33.3% benign(0.267) tolerated(0.05) neutral(0.373) NULL TMED2 10959 genome.wustl.edu 37 12 124071336 124071336 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006815.3 +1 validated p.E75* 1.000 83 0% 105 41% 254 26.3% - - - HMMPfam_EMP24_GP25L,superfamily_Supernatant protein factor (SPF) C-terminal domain DDX55 57696 genome.wustl.edu 37 12 124104003 124104003 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020936.1 +1 reviewed p.R453Q 1.000 151 0% 114 43% 31 32.2% benign(0.005) tolerated(0.35) neutral(0.021) NULL DNAH10 196385 genome.wustl.edu 37 12 124265760 124265760 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207437.3 +1 validated p.H191R 0.999 166 0% 71 57.7% 0 - benign(0) tolerated(0.81) neutral(0.001) NULL DNAH10 196385 genome.wustl.edu 37 12 124289552 124289552 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207437.3 +1 validated p.K866N 0.000 164 0.6% 91 44% 0 - benign(0) tolerated(0.39) neutral(0.016) NULL DNAH10 196385 genome.wustl.edu 37 12 124311396 124311396 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207437.3 +1 validated p.D1330Y 1.000 201 0% 104 47.1% 0 - possibly_damaging(0.822) deleterious(0.02) deleterious(0.694) HMMPfam_DHC_N2 DNAH10 196385 genome.wustl.edu 37 12 124332585 124332585 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207437.3 +1 validated p.A1846 1.000 111 0% 29 41.4% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124366226 124366226 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207437.3 +1 validated p.D2779N 1.000 74 0% 27 55.6% 0 - benign(0.104) tolerated(0.09) neutral(0.304) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124395196 124395196 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207437.3 +1 validated p.E3253* 0.976 19 0% 102 34.3% 1 0% - - - NULL CCDC92 80212 genome.wustl.edu 37 12 124427302 124427302 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025140.1 -1 provisional p.S71L 0.962 118 0% 208 50.5% 49 46.9% benign(0.167) tolerated(0.41) neutral(0.030) NULL NCOR2 9612 genome.wustl.edu 37 12 124816903 124816903 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006312.3 -1 validated p.K2296T 1.000 90 0% 204 47.5% 148 49.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NCOR2 9612 genome.wustl.edu 37 12 124827614 124827614 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006312.3 -1 validated p.R1632C 0.998 10 0% 16 31.2% 89 49.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NCOR2 9612 genome.wustl.edu 37 12 124848279 124848279 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006312.3 -1 validated p.Q958H 1.000 5 0.000 13 0.615 34 55.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TMEM132B 114795 genome.wustl.edu 37 12 125834065 125834065 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052907.2 +1 provisional p.T40 0.000 168 0% 77 53.2% 0 - - - - NULL TMEM132B 114795 genome.wustl.edu 37 12 125834181 125834181 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052907.2 +1 provisional p.R79M 0.141 160 0% 104 34.6% 0 - benign(0.075) deleterious(0.01) neutral(0.411) NULL LOC121296 121296 genome.wustl.edu 37 12 127349580 127349580 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343223.1 +1 model p.C53 0.995 53 0% 16 31.2% 0 - - - - NULL LOC121296 121296 genome.wustl.edu 37 12 127349618 127349618 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343223.1 +1 model p.A66V 0.948 68 0% 24 50% 0 - - - - NULL LOC121296 121296 genome.wustl.edu 37 12 127349870 127349870 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343223.1 +1 model p.S150Y 0.985 39 0% 37 43.2% 0 - - - - NULL PIWIL1 9271 genome.wustl.edu 37 12 130832683 130832683 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004764.3 +1 reviewed p.R230Q 1.000 166 0% 168 39.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PAZ domain PIWIL1 9271 genome.wustl.edu 37 12 130841499 130841499 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004764.3 +1 reviewed p.E481* 1.000 180 0% 107 47.7% 0 - - - - NULL PIWIL1 9271 genome.wustl.edu 37 12 130842043 130842043 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004764.3 +1 reviewed p.R537I 0.985 234 0% 87 24.1% 0 - possibly_damaging(0.903) deleterious(0.05) deleterious(0.704) NULL RIMBP2 23504 genome.wustl.edu 37 12 130929802 130929802 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015347.4 -1 validated p.F181 0.953 118 0.8% 107 44.9% 0 - - - - HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 GPR133 283383 genome.wustl.edu 37 12 131484927 131484927 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198827.3 +1 validated e9-1 0.958 117 0% 214 12.6% 0 - - - - - ULK1 8408 genome.wustl.edu 37 12 132393456 132393456 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003565.2 +1 validated p.F168 0.813 7 0.000 13 0.308 31 35.4% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ULK1 8408 genome.wustl.edu 37 12 132395279 132395279 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003565.2 +1 validated p.S294 0.243 9 0.000 25 0.280 24 12.5% - - - superfamily_Protein kinase-like (PK-like) EP400 57634 genome.wustl.edu 37 12 132472429 132472429 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015409.3 +1 validated p.A800 0.534 84 0% 85 34.1% 11 36.3% - - - HMMPfam_HSA,HMMSmart_HSA EP400 57634 genome.wustl.edu 37 12 132529956 132529956 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015409.3 +1 validated p.R2292C 0.997 72 0% 53 39.6% 30 36.6% unknown(0) - - NULL POLE 5426 genome.wustl.edu 37 12 133253184 133253184 + Missense_Mutation SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006231.2 -1 validated p.P286R 1.000 63 0% 96 43.8% 23 39.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold ZNF10 7556 genome.wustl.edu 37 12 133733540 133733540 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015394.4 +1 reviewed p.E570* 0.028 49 0% 38 39.5% 6 66.6% - - - superfamily_C2H2 and C2HC zinc fingers ZNF268 10795 genome.wustl.edu 37 12 133779243 133779243 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003415.2 +1 validated p.R324I 0.631 58 0% 33 48.5% 5 60% probably_damaging(0.969) tolerated(0.18) neutral(0.467) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF268 10795 genome.wustl.edu 37 12 133779327 133779327 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003415.2 +1 validated p.R352K 0.852 49 0% 28 46.4% 13 30.7% benign(0.006) tolerated(0.42) neutral(0.014) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF268 10795 genome.wustl.edu 37 12 133780755 133780755 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003415.2 +1 validated p.R828Q 0.724 122 0% 73 52.1% 19 42.1% probably_damaging(0.957) tolerated(0.61) neutral(0.405) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF268 10795 genome.wustl.edu 37 12 133780902 133780902 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003415.2 +1 validated p.S877Y 0.000 128 0% 66 15.2% 25 8% 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 TPTE2 93492 genome.wustl.edu 37 13 20006719 20006719 + Splice_Site SNP C C A rs75793549 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199254.2 -1 validated e16-1 1.000 98 0% 55 40% 0 - - - - - TPTE2 93492 genome.wustl.edu 37 13 20012252 20012252 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199254.2 -1 validated p.E339K 0.001 123 0% 46 52.2% 0 - benign(0.096) tolerated(0.3) neutral(0.036) superfamily_(Phosphotyrosine protein) phosphatases II TPTE2 93492 genome.wustl.edu 37 13 20025322 20025322 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199254.2 -1 validated p.R262Q 0.937 320 0% 111 44.1% 0 - benign(0.075) tolerated(0.14) neutral(0.255) superfamily_(Phosphotyrosine protein) phosphatases II MPHOSPH8 54737 genome.wustl.edu 37 13 20221272 20221272 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017520.3 +1 validated p.F353L 0.001 76 0% 80 47.5% 43 37.2% benign(0.009) tolerated(0.08) neutral(0.300) NULL ZMYM5 9205 genome.wustl.edu 37 13 20398930 20398930 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142684.1 -1 validated p.R566L 1.000 40 0% 108 44.4% 2 0% possibly_damaging(0.852) deleterious(0) deleterious(0.772) NULL ZMYM2 7750 genome.wustl.edu 37 13 20567402 20567402 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003453.2 +1 validated p.E64K 1.000 201 0% 137 43.1% 21 38% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL GJB6 10804 genome.wustl.edu 37 13 20797027 20797027 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001110219.2 -1 reviewed p.A198V 0.987 331 0% 170 52.9% 0 - benign(0) tolerated(1) - HMMPfam_Connexin_CCC IFT88 8100 genome.wustl.edu 37 13 21165123 21165123 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175605.3 +1 reviewed p.A85 0.998 78 0% 133 42.9% 8 25% - - - NULL IFT88 8100 genome.wustl.edu 37 13 21219088 21219088 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175605.3 +1 reviewed p.S656Y 1.000 196 0% 112 39.3% 15 13.3% possibly_damaging(0.772) deleterious(0.03) deleterious(0.651) HMMSmart_SM00028,superfamily_TPR-like IFT88 8100 genome.wustl.edu 37 13 21237654 21237654 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175605.3 +1 reviewed p.R705C 1.000 290 0% 226 38.9% 17 23.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL XPO4 64328 genome.wustl.edu 37 13 21383303 21383303 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022459.4 -1 validated p.R471Q 1.000 103 0% 48 33.3% 6 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_ARM-type_fold LATS2 26524 genome.wustl.edu 37 13 21565499 21565499 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014572.2 -1 reviewed p.I129 0.499 44 0% 27 51.9% 7 0% - - - HMMPfam_UBA SKA3 221150 genome.wustl.edu 37 13 21746626 21746626 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000314759 -1 known p.L61 0.956 47 0% 175 42.3% 15 53.3% - - - NULL SGCG 6445 genome.wustl.edu 37 13 23853608 23853608 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000231.2 +1 reviewed p.R166* 1.000 194 0% 91 44% 0 - - - - HMMPfam_Sarcoglycan_1 SACS 26278 genome.wustl.edu 37 13 23905732 23905732 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014363.4 -1 reviewed p.D4095Y 1.000 95 0% 65 41.5% 1 0% probably_damaging(0.992) tolerated(0.07) deleterious(0.766) NULL SACS 26278 genome.wustl.edu 37 13 23907076 23907076 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014363.4 -1 reviewed p.E3647* 1.000 41 0% 48 45.8% 3 66.6% - - - NULL SACS 26278 genome.wustl.edu 37 13 23910435 23910435 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014363.4 -1 reviewed p.K2527T 0.998 151 0% 57 49.1% 2 0% benign(0.005) tolerated(0.18) neutral(0.056) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase SACS 26278 genome.wustl.edu 37 13 23912385 23912385 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014363.4 -1 reviewed p.R1877Q 0.998 131 0% 113 40.7% 3 66.6% probably_damaging(0.996) tolerated(0.38) deleterious(0.479) NULL SACS 26278 genome.wustl.edu 37 13 23912488 23912488 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014363.4 -1 reviewed p.L1843M 0.998 134 0% 83 36.1% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SACS 26278 genome.wustl.edu 37 13 23914067 23914067 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014363.4 -1 reviewed p.Q1316H 0.997 74 0% 106 47.2% 1 0% benign(0.013) deleterious(0.04) neutral(0.349) NULL ATP12A 479 genome.wustl.edu 37 13 25259501 25259501 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001676.5 +1 reviewed p.D73A 0.913 159 0% 153 44.4% 0 - benign(0.009) deleterious(0) neutral(0.445) HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M ATP12A 479 genome.wustl.edu 37 13 25276149 25276149 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001676.5 +1 reviewed p.S653I 0.997 307 0.3% 166 47% 0 - possibly_damaging(0.85) deleterious(0.01) deleterious(0.733) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ATP12A 479 genome.wustl.edu 37 13 25280520 25280520 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001676.5 +1 reviewed p.I696 0.985 151 0% 49 53.1% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M CENPJ 55835 genome.wustl.edu 37 13 25486761 25486761 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018451.3 -1 reviewed p.E135* 0.999 274 0% 223 43.9% 5 20% - - - NULL PABPC3 5042 genome.wustl.edu 37 13 25670868 25670868 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030979.2 +1 validated p.E178* 1.000 283 0.4% 292 51.4% 2 0% - - - superfamily_RNA-binding domain RBD FAM123A 219287 genome.wustl.edu 37 13 25744518 25744518 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152704.2 -1 validated p.G414S 0.354 27 0% 25 32% 0 - benign(0) tolerated(1) - HMMPfam_WTX ATP8A2 51761 genome.wustl.edu 37 13 26151236 26151236 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016529.4 +1 validated p.R581Q 1.000 306 0% 85 45.9% 0 - possibly_damaging(0.902) deleterious(0.05) deleterious(0.702) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP8A2 51761 genome.wustl.edu 37 13 26152972 26152972 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016529.4 +1 validated p.R601I 1.000 457 0% 128 18.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N RNF6 6049 genome.wustl.edu 37 13 26789544 26789544 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005977.3 -1 reviewed p.N159H 0.846 292 0% 130 44.6% 13 23% probably_damaging(0.975) tolerated(0.14) deleterious(0.666) NULL GPR12 2835 genome.wustl.edu 37 13 27333908 27333908 + Silent SNP G G A rs145483394 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005288.3 -1 validated p.A19 0.480 24 0% 24 50% 0 - - - - superfamily_Family A G protein-coupled receptor-like MTIF3 219402 genome.wustl.edu 37 13 28011398 28011398 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152912.4 -1 reviewed p.R158I 0.005 343 0% 231 42% 69 33.3% benign(0.006) tolerated(0.38) neutral(0.018) superfamily_Translation initiation factor IF3 C-terminal domain MTIF3 219402 genome.wustl.edu 37 13 28014281 28014281 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152912.4 -1 reviewed p.R102Q 1.000 350 0% 151 39.1% 67 50.7% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_IF3_N,superfamily_Translation initiation factor IF3 N-terminal domain LNX2 222484 genome.wustl.edu 37 13 28136675 28136675 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153371.3 -1 validated p.L367I 1.000 77 0% 50 40% 12 33.3% probably_damaging(1) tolerated(0.3) deleterious(0.528) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ LNX2 222484 genome.wustl.edu 37 13 28155572 28155572 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153371.3 -1 validated p.R90I 1.000 117 0% 80 43.8% 8 25% benign(0.177) tolerated(0.07) neutral(0.336) superfamily_SSF57850 FLT1 2321 genome.wustl.edu 37 13 28931805 28931805 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002019.4 -1 reviewed p.G712* 1.000 285 0% 109 38.5% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin FLT1 2321 genome.wustl.edu 37 13 29001422 29001422 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002019.4 -1 reviewed p.S437L 0.163 153 0% 39 17.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Immunoglobulin FLT1 2321 genome.wustl.edu 37 13 29041233 29041233 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002019.4 -1 reviewed p.E65 0.001 276 0% 130 43.8% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin SLC46A3 283537 genome.wustl.edu 37 13 29287093 29287093 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135919.1 -1 validated p.L262V 0.832 55 0% 94 47.9% 3 0% possibly_damaging(0.541) tolerated(0.12) neutral(0.444) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC46A3 283537 genome.wustl.edu 37 13 29287276 29287276 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135919.1 -1 validated p.L201I 0.347 29 0% 56 42.9% 0 - benign(0.011) tolerated(0.32) neutral(0.025) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC7A1 6541 genome.wustl.edu 37 13 30107106 30107106 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003045.4 -1 validated p.V128 0.576 83 0% 44 11.4% 25 20% - - - NULL C13orf33 84935 genome.wustl.edu 37 13 31491570 31491570 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032849.3 +1 validated p.Y103* 1.000 166 0% 182 11.5% 1 0% - - - NULL HSPH1 10808 genome.wustl.edu 37 13 31713232 31713232 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006644.2 -1 validated p.F665V 0.952 158 0% 40 40% 185 50.8% benign(0.078) tolerated(0.09) neutral(0.302) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain B3GALTL 145173 genome.wustl.edu 37 13 31835151 31835151 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194318.3 +1 reviewed p.E176D 1.000 223 0% 162 40.7% 4 75% benign(0.184) tolerated(0.21) neutral(0.061) NULL RXFP2 122042 genome.wustl.edu 37 13 32371363 32371363 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130806.3 +1 reviewed p.I604 1.000 381 0.5% 215 47.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FRY 10129 genome.wustl.edu 37 13 32676143 32676143 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023037.2 +1 validated p.Q105R 0.938 93 0% 88 12.5% 0 - possibly_damaging(0.727) tolerated(0.08) deleterious(0.565) NULL FRY 10129 genome.wustl.edu 37 13 32709303 32709303 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023037.2 +1 validated p.R354* 0.995 93 0% 74 37.8% 0 - - - - NULL FRY 10129 genome.wustl.edu 37 13 32753060 32753060 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023037.2 +1 validated p.L921I 1.000 174 0% 64 35.9% 0 - possibly_damaging(0.5) tolerated(0.09) neutral(0.464) NULL BRCA2 675 genome.wustl.edu 37 13 32912007 32912007 + Missense_Mutation SNP C C T rs80358600 byCluster;byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000059.3 +1 reviewed p.S1172L 0.006 63 0% 43 44.2% 3 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL BRCA2 675 genome.wustl.edu 37 13 32913531 32913531 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000059.3 +1 reviewed p.S1680Y 0.995 38 0% 43 34.9% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_BRCA2 BRCA2 675 genome.wustl.edu 37 13 32972836 32972836 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000059.3 +1 reviewed p.S3396R 0.000 68 0% 39 33.3% 6 50% possibly_damaging(0.472) deleterious(0.02) deleterious(0.539) NULL N4BP2L1 90634 genome.wustl.edu 37 13 32981433 32981433 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052818.2 -1 validated p.D117G 1.000 199 0% 167 49.7% 5 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_P-loop containing nucleoside triphosphate hydrolases N4BP2L2 10443 genome.wustl.edu 37 13 33017924 33017924 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033111.3 -1 validated p.K250N 0.000 165 0% 222 44.1% 3 33.3% possibly_damaging(0.895) deleterious(0) deleterious(0.797) NULL PDS5B 23047 genome.wustl.edu 37 13 33334792 33334792 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015032.3 +1 reviewed p.R1151L 1.000 164 0% 27 70.4% 18 44.4% possibly_damaging(0.938) tolerated(0.16) neutral(0.443) NULL STARD13 90627 genome.wustl.edu 37 13 33685035 33685035 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178006.3 -1 validated p.E873K 1.000 148 0% 56 39.3% 4 25% benign(0.017) tolerated(0.06) neutral(0.323) superfamily_GTPase activation domain GAP STARD13 90627 genome.wustl.edu 37 13 33704414 33704414 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178006.3 -1 validated p.D134N 1.000 91 0% 22 50% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NBEA 26960 genome.wustl.edu 37 13 35644866 35644866 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015678.4 +1 validated p.A483V 1.000 143 0% 29 55.2% 0 - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 35751132 35751132 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015678.4 +1 validated e28-1 1.000 214 0% 45 44.4% 0 - - - - - NBEA 26960 genome.wustl.edu 37 13 35751185 35751185 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015678.4 +1 validated p.R1536I 0.999 395 0% 61 36.1% 0 - possibly_damaging(0.61) tolerated(0.09) deleterious(0.508) superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 36006456 36006456 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015678.4 +1 validated p.R2077Q 1.000 238 0% 99 46.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1088,superfamily_ARM repeat MAB21L1 4081 genome.wustl.edu 37 13 36049217 36049217 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005584.4 -1 reviewed p.P353 0.993 95 0% 64 56.2% 0 - - - - HMMPfam_Mab-21 MAB21L1 4081 genome.wustl.edu 37 13 36049333 36049333 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005584.4 -1 reviewed p.R315W 1.000 94 0% 45 53.3% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_Mab-21 NBEA 26960 genome.wustl.edu 37 13 36124666 36124666 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015678.4 +1 validated p.R2213Q 1.000 169 0.6% 71 47.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat,superfamily_PH domain-like NBEA 26960 genome.wustl.edu 37 13 36125067 36125067 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015678.4 +1 validated p.T2235N 1.000 164 0% 78 53.8% 0 - possibly_damaging(0.919) tolerated(0.06) deleterious(0.692) superfamily_ARM repeat,superfamily_PH domain-like NBEA 26960 genome.wustl.edu 37 13 36167508 36167508 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015678.4 +1 validated p.F2407C 1.000 579 0% 95 49.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beach,superfamily_BEACH domain,superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 36167547 36167547 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015678.4 +1 validated p.S2420Y 1.000 477 0% 83 16.9% 1 0% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Beach,superfamily_BEACH domain,superfamily_ARM repeat DCLK1 9201 genome.wustl.edu 37 13 36348758 36348758 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000360631 -1 known p.P713S 1.000 79 0% 25 40% 0 - benign(0.004) tolerated(0.09) neutral(0.296) NULL SOHLH2 54937 genome.wustl.edu 37 13 36748898 36748898 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017826.2 -1 validated p.K250N 0.824 171 0% 89 41.6% 0 - possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain SOHLH2 54937 genome.wustl.edu 37 13 36766002 36766002 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017826.2 -1 validated p.E154* 0.068 146 0% 71 45.1% 0 - - - - NULL CCDC169 728591 genome.wustl.edu 37 13 36822757 36822757 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144981.1 -1 validated p.E177D 0.997 190 0% 81 44.4% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL SPG20 23111 genome.wustl.edu 37 13 36886576 36886576 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142294.1 -1 reviewed p.E508* 1.000 249 0% 76 35.5% 47 10.6% - - - NULL LOC646879 646879 genome.wustl.edu 37 13 37368829 37368829 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_929841.3 +1 model p.S70Y 0.278 17 0% 32 31.2% 0 - - - - NULL CSNK1A1L 122011 genome.wustl.edu 37 13 37678544 37678544 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145203.5 -1 validated p.L284I 1.000 333 0% 280 47.5% 1 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_Kinase_like CSNK1A1L 122011 genome.wustl.edu 37 13 37678814 37678814 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145203.5 -1 validated p.L194I 1.000 375 0% 324 43.8% 0 - benign(0.022) tolerated(0.05) neutral(0.346) superfamily_Kinase_like,HMMPfam_Pkinase POSTN 10631 genome.wustl.edu 37 13 38153219 38153219 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006475.2 -1 validated p.E611* 1.000 170 0% 93 33.3% 5 0% - - - HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain TRPC4 7223 genome.wustl.edu 37 13 38211214 38211214 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003306.1 -1 validated p.G925 0.057 181 0% 54 46.3% 0 - - - - NULL TRPC4 7223 genome.wustl.edu 37 13 38211360 38211360 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003306.1 -1 validated p.A877S 0.945 166 0.6% 57 61.4% 0 - benign(0) tolerated(0.65) neutral(0.003) NULL TRPC4 7223 genome.wustl.edu 37 13 38211559 38211559 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003306.1 -1 validated p.P810 0.022 121 0% 24 45.8% 0 - - - - NULL TRPC4 7223 genome.wustl.edu 37 13 38211670 38211670 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003306.1 -1 validated p.S773 0.000 40 0% 14 42.9% 1 0% - - - NULL FREM2 341640 genome.wustl.edu 37 13 39263249 39263249 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207361.4 +1 reviewed p.D590N 1.000 218 0% 104 57.7% 3 0% probably_damaging(0.986) tolerated(0.1) deleterious(0.721) NULL FREM2 341640 genome.wustl.edu 37 13 39264900 39264900 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207361.4 +1 reviewed p.D1140A 1.000 54 0% 44 61.4% 6 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FREM2 341640 genome.wustl.edu 37 13 39266288 39266288 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207361.4 +1 reviewed p.S1603R 1.000 96 0% 84 44% 4 50% benign(0.045) tolerated(0.1) neutral(0.289) NULL FREM2 341640 genome.wustl.edu 37 13 39435628 39435628 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207361.4 +1 reviewed p.R2527H 1.000 299 0% 61 42.6% 12 50% possibly_damaging(0.722) deleterious(0.01) deleterious(0.667) NULL STOML3 161003 genome.wustl.edu 37 13 39541049 39541049 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145286.2 -1 validated p.T263 0.997 101 0% 34 44.1% 0 - - - - NULL PROSER1 80209 genome.wustl.edu 37 13 39587007 39587007 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025138.3 -1 validated p.S794 0.039 130 0% 74 40.5% 49 57.1% - - - NULL COG6 57511 genome.wustl.edu 37 13 40233567 40233567 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020751.2 +1 reviewed p.N74H 1.000 123 0% 110 46.4% 2 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_COG6 COG6 57511 genome.wustl.edu 37 13 40233612 40233612 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020751.2 +1 reviewed p.E89* 1.000 103 0% 108 48.1% 6 0% - - - HMMPfam_COG6 FOXO1 2308 genome.wustl.edu 37 13 41134083 41134083 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002015.3 -1 reviewed p.K515N 1.000 153 0% 73 42.5% 9 22.2% probably_damaging(0.995) tolerated(0.51) neutral(0.467) NULL MRPS31 10240 genome.wustl.edu 37 13 41303566 41303566 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005830.3 -1 reviewed p.R377I 1.000 35 0% 105 41% 28 53.5% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL SLC25A15 10166 genome.wustl.edu 37 13 41382725 41382725 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014252.3 +1 reviewed p.K258N 0.222 136 0% 166 48.2% 23 43.4% benign(0.138) deleterious(0.01) neutral(0.417) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr WBP4 11193 genome.wustl.edu 37 13 41636813 41636813 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007187.3 +1 reviewed p.F12L 1.000 99 0% 189 12.2% 24 8.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_ZnF_U1,HMMPfam_zf-U1,superfamily_SSF57667 KBTBD6 89890 genome.wustl.edu 37 13 41705201 41705201 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152903.4 -1 validated p.R483* 0.995 123 0.8% 91 50.5% 1 0% - - - HMMSmart_Kelch,superfamily_Gal_oxid_central KBTBD7 84078 genome.wustl.edu 37 13 41767417 41767417 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032138.4 -1 provisional p.S326Y 0.433 112 0% 60 45% 10 40% possibly_damaging(0.848) deleterious(0.05) deleterious(0.671) superfamily_Galactose oxidase central domain KBTBD7 84078 genome.wustl.edu 37 13 41767598 41767598 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032138.4 -1 provisional p.R266C 1.000 118 0% 71 43.7% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BACK MTRF1 9617 genome.wustl.edu 37 13 41800663 41800663 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004294.2 -1 reviewed p.N344H 1.000 324 0% 242 43% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RF-1,superfamily_SSF75620 NAA16 79612 genome.wustl.edu 37 13 41894959 41894959 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024561.4 +1 validated p.R134Q 1.000 79 1.3% 69 37.7% 6 50% probably_damaging(0.973) tolerated(0.07) deleterious(0.734) superfamily_TPR-like NAA16 79612 genome.wustl.edu 37 13 41947823 41947823 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024561.4 +1 validated p.E736* 1.000 207 0% 100 50% 3 0% - - - superfamily_TPR-like KIAA0564 23078 genome.wustl.edu 37 13 42164853 42164853 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015058.1 -1 validated p.L1679V 0.991 305 0% 95 48.4% 7 57.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA0564 23078 genome.wustl.edu 37 13 42249377 42249377 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015058.1 -1 validated p.K1461N 1.000 243 0% 104 44.2% 5 60% benign(0.131) tolerated(0.19) neutral(0.060) NULL KIAA0564 23078 genome.wustl.edu 37 13 42273324 42273324 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015058.1 -1 validated p.F1149L 1.000 109 0% 35 42.9% 3 33.3% benign(0) tolerated(0.66) neutral(0.003) NULL KIAA0564 23078 genome.wustl.edu 37 13 42385433 42385433 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015058.1 -1 validated p.R664Q 0.977 148 0% 26 42.3% 3 33.3% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) superfamily_P-loop containing nucleoside triphosphate hydrolases DGKH 160851 genome.wustl.edu 37 13 42733423 42733423 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178009.2 +1 reviewed p.K215T 1.000 50 0% 28 60.7% 0 - benign(0.39) deleterious(0) deleterious(0.570) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain EPSTI1 94240 genome.wustl.edu 37 13 43491721 43491721 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002264.1 -1 validated p.E244* 0.975 704 0% 284 35.9% 15 0% - - - NULL CCDC122 160857 genome.wustl.edu 37 13 44433008 44433008 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144974.3 -1 validated p.K194T 0.995 153 0% 135 40% 6 16.6% benign(0.002) tolerated(0.25) neutral(0.037) NULL LACC1 144811 genome.wustl.edu 37 13 44464275 44464275 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128303.1 +1 validated p.L387I 1.000 235 0% 68 47.1% 4 25% probably_damaging(0.987) tolerated(0.2) deleterious(0.485) HMMPfam_Cu-oxidase_4,superfamily_CNF1/YfiH-like putative cysteine hydrolases NUFIP1 26747 genome.wustl.edu 37 13 45556268 45556268 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012345.2 -1 validated p.R145Q 0.100 125 0% 140 45% 8 25% benign(0.005) tolerated(0.24) neutral(0.037) NULL KCTD4 386618 genome.wustl.edu 37 13 45768390 45768390 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198404.2 -1 validated p.R105* 1.000 170 0% 144 39.6% 0 - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold COG3 83548 genome.wustl.edu 37 13 46085982 46085982 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031431.2 +1 reviewed p.K601T 1.000 221 0% 105 43.8% 16 31.2% benign(0.019) tolerated(0.51) neutral(0.010) NULL FAM194B 220081 genome.wustl.edu 37 13 46124167 46124167 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182542.2 -1 predicted p.N503H 1.000 213 0% 113 40.7% 0 - benign(0.005) tolerated(0.21) neutral(0.044) NULL FAM194B 220081 genome.wustl.edu 37 13 46142531 46142531 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182542.2 -1 predicted p.A369V 0.000 564 0% 316 41.1% 0 - benign(0.009) deleterious(0) neutral(0.445) NULL FAM194B 220081 genome.wustl.edu 37 13 46170819 46170819 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182542.2 -1 predicted p.E108* 0.000 1589 0% 575 44.7% 0 - - - - NULL ZC3H13 23091 genome.wustl.edu 37 13 46537965 46537965 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015070.3 -1 validated p.L1563V 0.001 75 0% 29 31% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL ZC3H13 23091 genome.wustl.edu 37 13 46549967 46549967 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015070.3 -1 validated p.R640I 1.000 934 0.1% 98 38.8% 41 51.2% unknown(0) deleterious(0.02) - NULL CPB2 1361 genome.wustl.edu 37 13 46632468 46632468 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001872.3 -1 reviewed p.Y282C 0.062 219 0% 84 40.5% 0 - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases LCP1 3936 genome.wustl.edu 37 13 46716540 46716540 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002298.4 -1 reviewed p.A463 0.236 157 0% 64 50% 12 0% - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology LCP1 3936 genome.wustl.edu 37 13 46718606 46718606 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002298.4 -1 reviewed p.G408 0.000 200 0% 158 43.7% 13 7.6% - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology ESD 2098 genome.wustl.edu 37 13 47355735 47355735 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001984.1 -1 reviewed p.N133H 1.000 86 0% 23 39.1% 149 48.3% possibly_damaging(0.748) tolerated(0.05) deleterious(0.620) HMMPfam_Esterase,superfamily_SSF53474 HTR2A 3356 genome.wustl.edu 37 13 47409284 47409284 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000621.3 -1 reviewed p.I368 0.812 190 0% 50 44% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HTR2A 3356 genome.wustl.edu 37 13 47409732 47409732 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000621.3 -1 reviewed p.S219L 0.554 55 0% 17 35.3% 0 - benign(0.208) tolerated(0.19) neutral(0.070) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SUCLA2 8803 genome.wustl.edu 37 13 48562731 48562731 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003850.2 -1 reviewed p.R160Q 1.000 383 0% 298 43.6% 46 58.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ATP-grasp_2,superfamily_Glutathione synthetase ATP-binding domain-like NUDT15 55270 genome.wustl.edu 37 13 48619883 48619883 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018283.1 +1 provisional p.P148Q 1.000 222 0% 117 37.6% 39 56.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Nudix ITM2B 9445 genome.wustl.edu 37 13 48830415 48830415 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021999.4 +1 reviewed p.E117* 1.000 149 0% 72 43.1% 285 1.4% - - - NULL RB1 5925 genome.wustl.edu 37 13 48919244 48919244 + Nonsense_Mutation SNP G G T rs121913296 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000321.2 +1 reviewed p.E137* 1.000 205 0% 126 86.5% 10 100% - - - NULL RB1 5925 genome.wustl.edu 37 13 48939041 48939041 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000321.2 +1 reviewed p.V291 1.000 80 0% 87 56.3% 4 50% - - - NULL RB1 5925 genome.wustl.edu 37 13 48951156 48951156 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000321.2 +1 reviewed p.E440K 0.998 157 0% 105 47.6% 6 33.3% benign(0.051) tolerated(0.15) neutral(0.244) HMMPfam_RB_A,superfamily_Cyclin-like CAB39L 81617 genome.wustl.edu 37 13 49933943 49933943 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079670.1 -1 validated p.F101C 1.000 314 0% 84 14.3% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mo25,superfamily_ARM-type_fold PHF11 51131 genome.wustl.edu 37 13 50092274 50092274 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040443.1 +1 validated p.R149* 0.000 35 0% 80 53.7% 20 5% - - - HMMSmart_PHD PHF11 51131 genome.wustl.edu 37 13 50100566 50100566 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000426879 +1 known p.S226L 1.000 119 0% 168 47% 32 25% - - - NULL SERPINE3 647174 genome.wustl.edu 37 13 51936038 51936038 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001101320.1 +1 validated p.V394L 0.001 235 0% 50 44% 0 - benign(0) tolerated(1) - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins INTS6 26512 genome.wustl.edu 37 13 51943160 51943160 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012141.2 -1 reviewed p.K797N 1.000 509 0% 98 34.7% 29 51.7% benign(0.025) tolerated(0.3) neutral(0.030) NULL WDFY2 115825 genome.wustl.edu 37 13 52234739 52234739 + Missense_Mutation SNP C C T rs188808385 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052950.3 +1 reviewed p.R49C 1.000 317 0% 135 44.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like CCDC70 83446 genome.wustl.edu 37 13 52440036 52440036 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031290.2 +1 validated p.E174 0.220 117 0% 48 41.7% 0 - - - - NULL NEK5 341676 genome.wustl.edu 37 13 52661489 52661489 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199289.1 -1 provisional p.N459 0.000 128 0% 229 46.7% 0 - - - - NULL CKAP2 26586 genome.wustl.edu 37 13 53035040 53035040 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098525.1 +1 validated p.D55E 0.000 61 0% 121 42.1% 25 52% benign(0.059) tolerated(0.21) neutral(0.048) NULL SUGT1 10910 genome.wustl.edu 37 13 53254148 53254148 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130912.1 +1 reviewed p.R285I 1.000 245 0% 122 40.2% 99 36.3% possibly_damaging(0.513) tolerated(0.16) neutral(0.232) HMMPfam_SGS,superfamily_HSP20-like chaperones OLFM4 10562 genome.wustl.edu 37 13 53602993 53602993 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006418.3 +1 reviewed p.L8I 0.001 70 0% 34 38.2% 0 - unknown(0) deleterious(0) - NULL OLFM4 10562 genome.wustl.edu 37 13 53624856 53624856 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006418.3 +1 reviewed p.D495N 1.000 121 0% 43 34.9% 0 - possibly_damaging(0.897) tolerated(0.22) neutral(0.396) HMMPfam_OLF,HMMSmart_OLF LOC341689 341689 genome.wustl.edu 37 13 59103277 59103277 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_017487.3 +1 model NULL 0.480 119 0% 175 46.9% 0 - - - - - LOC341689 341689 genome.wustl.edu 37 13 59103600 59103600 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_017487.3 +1 model NULL 0.115 139 0% 164 44.5% 0 - - - - - LOC341689 341689 genome.wustl.edu 37 13 59104627 59104627 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_017487.3 +1 model NULL 0.058 267 0% 172 45.3% 0 - - - - - DIAPH3 81624 genome.wustl.edu 37 13 60348377 60348377 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042517.1 -1 validated p.R1089W 1.000 65 0% 81 34.6% 16 12.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL DIAPH3 81624 genome.wustl.edu 37 13 60498948 60498948 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042517.1 -1 validated p.E711* 1.000 67 0% 43 41.9% 11 27.2% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) TDRD3 81550 genome.wustl.edu 37 13 61041427 61041427 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030794.2 +1 validated p.N44H 1.000 461 0% 92 37% 14 42.8% probably_damaging(1) tolerated(0.2) deleterious(0.549) NULL TDRD3 81550 genome.wustl.edu 37 13 61102603 61102603 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030794.2 +1 validated p.R322Q 1.000 58 0% 49 49% 17 47% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL PCDH20 64881 genome.wustl.edu 37 13 61986215 61986215 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022843.3 -1 validated p.W673G 1.000 145 0% 51 37.3% 0 - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH20 64881 genome.wustl.edu 37 13 61987190 61987190 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022843.3 -1 validated p.D348Y 1.000 180 0% 60 53.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH9 5101 genome.wustl.edu 37 13 67799840 67799840 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203487.2 -1 reviewed p.E911D 1.000 76 0% 34 41.2% 0 - probably_damaging(1) tolerated(0.67) deleterious(0.502) HMMPfam_Protocadherin PCDH9 5101 genome.wustl.edu 37 13 67800247 67800247 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203487.2 -1 reviewed p.D776N 1.000 192 0% 64 34.4% 0 - benign(0.334) deleterious(0) deleterious(0.549) HMMSmart_SM00112,superfamily_Cadherin-like PCDH9 5101 genome.wustl.edu 37 13 67802188 67802188 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203487.2 -1 reviewed p.K129Q 1.000 91 0% 89 42.7% 0 - probably_damaging(0.956) tolerated(0.27) neutral(0.433) HMMSmart_SM00112,superfamily_Cadherin-like KLHL1 57626 genome.wustl.edu 37 13 70456525 70456525 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020866.2 -1 validated p.E373* 1.000 179 0% 61 41% 0 - - - - HMMPfam_BACK BORA 79866 genome.wustl.edu 37 13 73320648 73320648 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024808.2 +1 validated p.K294T 1.000 29 0% 14 35.7% 14 42.8% probably_damaging(0.978) deleterious(0.04) deleterious(0.769) NULL PIBF1 10464 genome.wustl.edu 37 13 73482799 73482799 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006346.2 +1 validated p.I540R 1.000 136 0% 65 41.5% 19 57.8% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL KLF12 11278 genome.wustl.edu 37 13 74420428 74420428 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007249.4 -1 validated p.S69L 0.997 68 0% 29 48.3% 3 33.3% benign(0) tolerated(0.2) neutral(0.049) NULL TBC1D4 9882 genome.wustl.edu 37 13 75861061 75861061 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014832.2 -1 validated p.K1255R 1.000 378 0.3% 80 43.8% 3 0% benign(0.003) tolerated(0.76) neutral(0.001) NULL TBC1D4 9882 genome.wustl.edu 37 13 75898521 75898521 + Nonsense_Mutation SNP G G A rs61736969 byCluster;byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014832.2 -1 validated p.R684* 0.991 277 0% 144 47.9% 0 - - - - NULL LMO7 4008 genome.wustl.edu 37 13 76374826 76374826 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005358.5 +1 reviewed p.E209K 1.000 67 0% 23 65.2% 17 47% probably_damaging(0.974) deleterious(0) deleterious(0.861) superfamily_Calponin-homology LMO7 4008 genome.wustl.edu 37 13 76381685 76381685 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015842.2 +1 reviewed p.K189N 0.870 125 0% 60 51.7% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL LMO7 4008 genome.wustl.edu 37 13 76395482 76395482 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015842.2 +1 reviewed p.E560K 0.884 189 0% 63 34.9% 22 22.7% benign(0.07) deleterious(0.01) neutral(0.411) NULL LMO7 4008 genome.wustl.edu 37 13 76409422 76409422 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015842.2 +1 reviewed p.K861Q 0.919 250 0% 63 49.2% 11 36.3% possibly_damaging(0.952) deleterious(0.02) deleterious(0.778) NULL MYCBP2 23077 genome.wustl.edu 37 13 77619573 77619573 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000429715 -1 known p.T1042P 0.662 136 0% 77 48.1% 24 12.5% - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77640212 77640212 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015057.4 -1 validated p.R4118Q 1.000 148 0% 57 56.1% 14 78.5% probably_damaging(0.967) tolerated(0.27) neutral(0.443) NULL MYCBP2 23077 genome.wustl.edu 37 13 77671680 77671680 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015057.4 -1 validated p.K3165N 0.989 88 0% 39 33.3% 2 100% probably_damaging(0.991) tolerated(0.21) deleterious(0.488) NULL MYCBP2 23077 genome.wustl.edu 37 13 77671898 77671898 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015057.4 -1 validated p.E3093* 1.000 95 0% 24 45.8% 6 33.3% - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77738655 77738655 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015057.4 -1 validated p.E2123* 1.000 165 0% 105 60% 0 - - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77740653 77740653 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015057.4 -1 validated p.E2013K 1.000 63 0% 53 43.4% 3 0% probably_damaging(0.959) deleterious(0.03) deleterious(0.767) NULL MYCBP2 23077 genome.wustl.edu 37 13 77750673 77750673 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015057.4 -1 validated p.D1773Y 1.000 205 0% 103 35.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PHR MYCBP2 23077 genome.wustl.edu 37 13 77760086 77760086 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015057.4 -1 validated p.D1417G 1.000 127 0% 63 41.3% 4 25% probably_damaging(0.99) tolerated(0.1) deleterious(0.728) NULL MYCBP2 23077 genome.wustl.edu 37 13 77786162 77786162 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015057.4 -1 validated p.R1026Q 1.000 165 0% 92 41.3% 1 100% probably_damaging(0.997) tolerated(0.08) deleterious(0.766) superfamily_RCC1/BLIP-II MYCBP2 23077 genome.wustl.edu 37 13 77807290 77807290 + Splice_Site SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015057.4 -1 validated e18+1 1.000 281 0% 93 43% 0 - - - - - SCEL 8796 genome.wustl.edu 37 13 78142432 78142432 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144777.2 +1 validated p.S121N 0.000 420 0% 196 40.3% 2 50% benign(0.001) tolerated(0.31) neutral(0.027) NULL SCEL 8796 genome.wustl.edu 37 13 78176238 78176238 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144777.2 +1 validated p.R319M 0.009 156 0% 77 48.1% 0 - benign(0.345) deleterious(0) deleterious(0.553) NULL SLAIN1 122060 genome.wustl.edu 37 13 78320713 78320713 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040153.2 +1 validated p.L86F 1.000 197 0% 21 42.9% 13 53.8% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL SLAIN1 122060 genome.wustl.edu 37 13 78335188 78335188 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040153.2 +1 validated p.S306L 1.000 101 0% 19 36.8% 23 52.1% possibly_damaging(0.521) deleterious(0.01) deleterious(0.581) NULL EDNRB 1910 genome.wustl.edu 37 13 78472380 78472380 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000115.2 -1 reviewed p.H428 0.958 289 0% 30 40% 0 - - - - NULL EDNRB 1910 genome.wustl.edu 37 13 78477408 78477408 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000115.2 -1 reviewed p.V228 0.998 127 0% 26 53.8% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like EDNRB 1910 genome.wustl.edu 37 13 78492730 78492730 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000377211 -1 known p.T83 0.000 25 0.000 7 0.714 1 0% - - - NULL RNF219 79596 genome.wustl.edu 37 13 79190752 79190752 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024546.3 -1 validated p.E382* 1.000 165 0% 99 36.4% 17 47% - - - NULL RNF219 79596 genome.wustl.edu 37 13 79212997 79212997 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024546.3 -1 validated p.I170 0.556 376 0% 397 37.3% 10 60% - - - NULL RBM26 64062 genome.wustl.edu 37 13 79911337 79911337 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022118.3 -1 validated p.R851Q 1.000 183 0% 41 36.6% 49 44.8% probably_damaging(1) tolerated(0.08) deleterious(0.800) superfamily_SSF54928 SLITRK1 114798 genome.wustl.edu 37 13 84454314 84454314 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052910.1 -1 reviewed p.F443 0.995 107 0% 84 36.9% 0 - - - - HMMPfam_LRR_1,superfamily_SSF52058 SLITRK1 114798 genome.wustl.edu 37 13 84454383 84454383 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052910.1 -1 reviewed p.K420N 1.000 148 0% 116 44.8% 0 - benign(0.025) tolerated(0.49) neutral(0.011) HMMPfam_LRR_1,superfamily_SSF52058 SLITRK6 84189 genome.wustl.edu 37 13 86368383 86368383 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032229.2 -1 validated p.S754* 0.986 185 0% 73 37% 0 - - - - NULL SLITRK6 84189 genome.wustl.edu 37 13 86368951 86368951 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032229.2 -1 validated p.L565I 1.000 215 0% 42 40.5% 1 0% possibly_damaging(0.485) tolerated(0.49) neutral(0.172) HMMSmart_SM00082,superfamily_L domain-like GPC5 2262 genome.wustl.edu 37 13 92345451 92345451 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004466.4 +1 reviewed p.E112D 1.000 114 0% 56 53.6% 0 - possibly_damaging(0.559) tolerated(0.25) neutral(0.228) HMMPfam_Glypican DCT 1638 genome.wustl.edu 37 13 95092217 95092217 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001129889.1 -1 validated p.R532* 0.313 191 0% 35 45.7% 0 - - - - NULL DCT 1638 genome.wustl.edu 37 13 95104904 95104904 + Missense_Mutation SNP G G A rs192427783 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001129889.1 -1 validated p.R398C 0.056 187 0% 145 50.3% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL ABCC4 10257 genome.wustl.edu 37 13 95715081 95715081 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005845.3 -1 reviewed p.K1081N 0.998 122 0% 110 41.8% 24 66.6% probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DZIP1 22873 genome.wustl.edu 37 13 96239824 96239824 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198968.2 -1 validated p.I729 0.001 399 0% 77 48.1% 17 58.8% - - - NULL DNAJC3 5611 genome.wustl.edu 37 13 96438301 96438301 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006260.3 +1 reviewed p.Y395C 1.000 67 0% 43 39.5% 41 46.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain HS6ST3 266722 genome.wustl.edu 37 13 97484750 97484750 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153456.2 +1 validated p.F238L 1.000 110 0% 91 35.2% 0 - benign(0.183) tolerated(0.23) neutral(0.059) HMMPfam_HS6ST IPO5 3843 genome.wustl.edu 37 13 98658482 98658482 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002271.4 +1 reviewed p.D550E 0.993 199 0% 136 37.5% 86 51.1% possibly_damaging(0.484) deleterious(0.01) deleterious(0.566) superfamily_ARM-type_fold FARP1 10160 genome.wustl.edu 37 13 99045956 99045956 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005766.2 +1 reviewed p.S383L 0.770 104 0% 100 46% 76 51.3% benign(0.001) tolerated(0.18) neutral(0.056) NULL FARP1 10160 genome.wustl.edu 37 13 99099066 99099066 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005766.2 +1 reviewed p.F1017 0.993 172 0% 54 38.9% 252 43.2% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like DOCK9 23348 genome.wustl.edu 37 13 99515327 99515327 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130049.1 -1 validated p.N1176 0.323 193 0% 41 41.5% 6 16.6% - - - NULL DOCK9 23348 genome.wustl.edu 37 13 99607778 99607778 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130049.1 -1 validated p.D53N 1.000 130 0% 85 51.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TM9SF2 9375 genome.wustl.edu 37 13 100169877 100169877 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004800.1 +1 provisional p.E61* 1.000 219 0% 182 37.4% 30 16.6% - - - NULL TM9SF2 9375 genome.wustl.edu 37 13 100191808 100191808 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004800.1 +1 provisional p.F275 0.003 245 0% 117 86.3% 82 90.2% - - - HMMPfam_EMP70 PCCA 5095 genome.wustl.edu 37 13 100809577 100809577 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000282.3 +1 reviewed p.E151* 1.000 307 0% 232 46.1% 5 40% - - - HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like NALCN 259232 genome.wustl.edu 37 13 101725982 101725982 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052867.2 -1 validated p.R1384Q 1.000 186 0% 79 25.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 101844369 101844369 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052867.2 -1 validated p.G555R 1.000 166 0% 25 60% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TPP2 7174 genome.wustl.edu 37 13 103268763 103268763 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003291.2 +1 reviewed p.K136N 0.993 103 0% 31 38.7% 8 50% possibly_damaging(0.555) tolerated(0.06) deleterious(0.512) HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 TPP2 7174 genome.wustl.edu 37 13 103292684 103292684 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003291.2 +1 reviewed p.R660* 1.000 184 0% 95 42.1% 13 15.3% - - - NULL TPP2 7174 genome.wustl.edu 37 13 103330637 103330637 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003291.2 +1 reviewed p.M1241V 1.000 146 0% 81 40.7% 25 16% benign(0.036) tolerated(0.58) neutral(0.007) NULL LOC643677 643677 genome.wustl.edu 37 13 103384317 103384317 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.E6092* 0.485 609 0% 71 43.7% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103384604 103384604 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.S5996Y 0.219 485 0% 82 52.4% 0 - unknown(0) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103384791 103384791 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.D5934Y 0.002 555 0% 72 44.4% 0 - unknown(0) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103386013 103386013 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.L5526 0.000 358 0% 36 52.8% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103387855 103387855 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.N4912 0.000 553 0% 54 40.7% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103387989 103387989 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.D4868Y 0.001 903 0% 75 42.7% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL LOC643677 643677 genome.wustl.edu 37 13 103388313 103388313 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.L4760 0.000 860 0% 75 44% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103388528 103388528 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.S4688Y 0.000 775 0% 60 38.3% 0 - possibly_damaging(0.741) deleterious(0.01) deleterious(0.677) NULL LOC643677 643677 genome.wustl.edu 37 13 103389115 103389115 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.S4492R 0.000 1086 0% 72 45.8% 0 - benign(0.127) tolerated(0.2) neutral(0.060) NULL LOC643677 643677 genome.wustl.edu 37 13 103390248 103390248 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.L4196M 0.000 751 0.1% 121 44.6% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103391939 103391939 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.I3632S 0.000 338 0% 54 51.9% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103392320 103392320 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.S3505L 0.000 362 0% 37 37.8% 1 0% - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394081 103394081 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.S2918L 0.000 111 0.9% 24 45.8% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103394402 103394402 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.L2811R 0.001 335 0% 38 34.2% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103399643 103399643 + Missense_Mutation SNP C C A rs192878763 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344085.1 -1 model p.G1064V 0.000 189 0% 59 49.2% 0 - - - - NULL ERCC5 2073 genome.wustl.edu 37 13 103524570 103524570 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000123.2 +1 reviewed p.K901Q 1.000 146 0% 85 49.4% 42 40.4% possibly_damaging(0.819) tolerated(0.08) deleterious(0.609) superfamily_5' to 3' exonuclease C-terminal subdomain ERCC5 2073 genome.wustl.edu 37 13 103525682 103525682 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000123.2 +1 reviewed p.D985N 0.385 167 0% 74 43.2% 49 42.8% benign(0) tolerated(1) - superfamily_5' to 3' exonuclease C-terminal subdomain ERCC5 2073 genome.wustl.edu 37 13 103527669 103527669 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000123.2 +1 reviewed p.I993L 0.954 63 0% 65 40% 51 43.1% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_5' to 3' exonuclease C-terminal subdomain LIG4 3981 genome.wustl.edu 37 13 108860884 108860884 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098268.1 -1 reviewed p.I911M 0.992 39 0% 47 53.2% 5 100% benign(0.199) tolerated(0.06) neutral(0.342) superfamily_BRCT LIG4 3981 genome.wustl.edu 37 13 108863095 108863095 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098268.1 -1 reviewed p.L174 0.196 62 0% 143 35.7% 1 0% - - - HMMPfam_DNA_ligase_A_N MYO16 23026 genome.wustl.edu 37 13 109379794 109379794 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015011.1 +1 validated p.R102W 1.000 346 0.3% 120 42.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MYO16 23026 genome.wustl.edu 37 13 109831939 109831939 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015011.1 +1 validated p.G1769 0.000 266 0% 86 45.3% 0 - - - - NULL COL4A1 1282 genome.wustl.edu 37 13 110829038 110829038 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001845.4 -1 reviewed p.R968Q 0.044 106 0% 60 46.7% 145 28.9% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) HMMPfam_Collagen COL4A1 1282 genome.wustl.edu 37 13 110847385 110847385 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001845.4 -1 reviewed p.E456K 0.890 52 0% 55 43.6% 58 27.5% unknown(0) tolerated(0.9) - HMMPfam_Collagen COL4A2 1284 genome.wustl.edu 37 13 111109699 111109699 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001846.2 +1 reviewed p.F450C 0.893 106 0% 78 44.9% 75 29.3% possibly_damaging(0.906) deleterious(0) deleterious(0.804) HMMPfam_Collagen COL4A2 1284 genome.wustl.edu 37 13 111141854 111141854 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001846.2 +1 reviewed p.F1090 0.000 97 0% 93 38.7% 256 37.8% - - - HMMPfam_Collagen TUBGCP3 10426 genome.wustl.edu 37 13 113223473 113223473 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006322.4 -1 provisional p.K59N 1.000 230 0% 222 44.6% 6 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MCF2L 23263 genome.wustl.edu 37 13 113732686 113732686 + Missense_Mutation SNP G G A rs183892240 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112732.1 +1 validated p.R614Q 0.819 22 0% 33 48.5% 18 61.1% probably_damaging(0.967) tolerated(0.22) neutral(0.451) NULL F7 2155 genome.wustl.edu 37 13 113771900 113771900 + Silent SNP C C T rs34946892 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000131.3 +1 reviewed p.I265 0.000 31 0% 61 44.3% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases F10 2159 genome.wustl.edu 37 13 113793763 113793763 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000504.3 +1 reviewed p.E117K 0.074 102 0% 162 46.3% 1 0% benign(0.072) tolerated(0.05) neutral(0.350) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2 F10 2159 genome.wustl.edu 37 13 113798308 113798308 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000504.3 +1 reviewed p.D216N 0.000 22 0% 31 58.1% 0 - benign(0.002) tolerated(0.62) neutral(0.004) NULL ADPRHL1 113622 genome.wustl.edu 37 13 114088116 114088116 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138430.3 -1 validated p.L149P 0.999 8 0.000 18 0.722 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_ADP_ribosyl_GH,superfamily_ADP-ribosylglycohydrolase TMCO3 55002 genome.wustl.edu 37 13 114150160 114150160 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017905.4 +1 validated p.E88D 1.000 39 0% 69 49.3% 22 40.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMCO3 55002 genome.wustl.edu 37 13 114152666 114152666 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017905.4 +1 validated p.E152* 1.000 67 0% 127 40.2% 31 16.1% - - - NULL TMCO3 55002 genome.wustl.edu 37 13 114157838 114157838 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017905.4 +1 validated p.E325* 1.000 363 0% 887 42.6% 5 0% - - - HMMPfam_Na_H_Exchanger GAS6 2621 genome.wustl.edu 37 13 114542745 114542745 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000820.2 -1 reviewed p.F141C 0.902 61 0% 37 48.6% 12 0% possibly_damaging(0.514) tolerated(0.18) neutral(0.229) PatternScan_ASX_HYDROXYL,HMMSmart_EGF,superfamily_SSF57196 CHAMP1 283489 genome.wustl.edu 37 13 115091033 115091033 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032436.2 +1 validated p.S572 0.547 58 0% 56 50% 17 58.8% - - - NULL LOC100132257 100132257 genome.wustl.edu 37 14 19114837 19114837 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343306.1 +1 model p.L95V 0.578 29 0% 38 18.4% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK OR11H12 440153 genome.wustl.edu 37 14 19378179 19378179 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013354.1 +1 provisional p.P196T 0.010 836 0.1% 163 11.7% 0 - benign(0.057) tolerated(0.29) neutral(0.033) HMMPfam_7tm_1,superfamily_SSF81321 OR4Q3 441669 genome.wustl.edu 37 14 20215705 20215705 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172194.1 +1 provisional p.L40Q 0.906 517 0% 100 39% 0 - possibly_damaging(0.826) deleterious(0.02) deleterious(0.697) superfamily_SSF81321 OR4Q3 441669 genome.wustl.edu 37 14 20215793 20215793 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172194.1 +1 provisional p.F69L 0.720 396 0% 71 28.2% 0 - benign(0.009) tolerated(0.37) neutral(0.019) HMMPfam_7tm_1,superfamily_SSF81321 OR4N2 390429 genome.wustl.edu 37 14 20296241 20296241 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004723.1 +1 provisional p.L212M 0.000 488 0% 82 31.7% 0 - possibly_damaging(0.952) tolerated(0.06) deleterious(0.718) HMMPfam_7tm_1,superfamily_SSF81321 OR4K2 390431 genome.wustl.edu 37 14 20344676 20344676 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005501.1 +1 provisional p.D84Y 0.960 376 0% 232 30.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K5 79317 genome.wustl.edu 37 14 20388782 20388782 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005483.1 +1 provisional p.S6Y 0.000 615 0% 141 25.5% 0 - benign(0) tolerated(0.62) neutral(0.004) superfamily_SSF81321 OR4K5 79317 genome.wustl.edu 37 14 20388830 20388830 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005483.1 +1 provisional p.K22I 0.001 632 0% 150 31.3% 0 - benign(0.291) deleterious(0) deleterious(0.534) superfamily_SSF81321 OR4K5 79317 genome.wustl.edu 37 14 20389478 20389478 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005483.1 +1 provisional p.S238Y 0.016 837 0% 164 28.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR4K1 79544 genome.wustl.edu 37 14 20403995 20403995 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004063.2 +1 validated p.S57Y 0.958 709 0% 346 28.3% 0 - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_7tm_1,superfamily_SSF81321 OR4K1 79544 genome.wustl.edu 37 14 20404356 20404356 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004063.2 +1 validated p.F177L 0.960 333 0% 93 29% 0 - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_7tm_1,superfamily_SSF81321 OR4K15 81127 genome.wustl.edu 37 14 20443771 20443771 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005486.1 +1 provisional p.R32W 0.783 350 0.3% 53 30.2% 0 - benign(0.003) tolerated(0.09) neutral(0.296) superfamily_SSF81321 OR4K13 390433 genome.wustl.edu 37 14 20502557 20502557 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004714.1 -1 provisional p.D121Y 0.997 163 0% 27 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR4L1 122742 genome.wustl.edu 37 14 20528481 20528481 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004717.1 +1 provisional p.S93Y 0.992 207 0% 46 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR11H4 390442 genome.wustl.edu 37 14 20711030 20711030 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004479.1 +1 provisional p.F27S 1.000 89 0% 47 48.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like OR11H4 390442 genome.wustl.edu 37 14 20711822 20711822 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004479.1 +1 provisional p.T291M 0.760 88 0% 108 40.7% 0 - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TTC5 91875 genome.wustl.edu 37 14 20766960 20766960 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138376.2 -1 validated p.Q212R 1.000 328 0% 109 40.4% 7 42.8% possibly_damaging(0.643) tolerated(0.12) deleterious(0.486) superfamily_SSF48452 TEP1 7011 genome.wustl.edu 37 14 20863750 20863750 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007110.4 -1 reviewed p.R596Q 0.000 180 0% 118 42.4% 1 0% benign(0.021) tolerated(0.62) neutral(0.005) HMMPfam_TROVE TEP1 7011 genome.wustl.edu 37 14 20863770 20863770 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007110.4 -1 reviewed p.S589 0.549 162 0.6% 119 45.4% 0 - - - - HMMPfam_TROVE OSGEP 55644 genome.wustl.edu 37 14 20920238 20920238 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017807.2 -1 validated p.K102 1.000 118 0% 32 43.8% 41 39% - - - HMMPfam_Peptidase_M22,PatternScan_GLYCOPROTEASE,superfamily_SSF53067 EDDM3A 10876 genome.wustl.edu 37 14 21215930 21215930 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006683.4 +1 validated p.S64N 0.000 137 0% 119 52.1% 0 - benign(0.048) tolerated(0.7) neutral(0.005) superfamily_RNaseA RNASE2 6036 genome.wustl.edu 37 14 21424308 21424308 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002934.2 +1 validated p.A126 0.000 276 0.4% 75 48% 4 0% - - - HMMPfam_RnaseA,HMMSmart_RNAse_Pc,superfamily_RNaseA ENSG00000246096 0 genome.wustl.edu 37 14 21464038 21464038 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000500338 -1 known NULL 0.002 278 0% 238 42.9% 0 - - - - - RPGRIP1 57096 genome.wustl.edu 37 14 21771650 21771650 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020366.3 +1 reviewed p.N250H 0.019 69 0% 87 34.5% 0 - benign(0.001) tolerated(0.08) neutral(0.300) NULL RPGRIP1 57096 genome.wustl.edu 37 14 21785977 21785977 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020366.3 +1 reviewed p.R425I 0.479 98 0% 31 45.2% 0 - possibly_damaging(0.684) tolerated(0.19) neutral(0.293) NULL CHD8 57680 genome.wustl.edu 37 14 21870506 21870506 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020920.3 -1 reviewed p.N1012D 1.000 161 0% 71 39.4% 22 31.8% benign(0.004) tolerated(0.44) neutral(0.013) superfamily_P-loop containing nucleoside triphosphate hydrolases METTL3 56339 genome.wustl.edu 37 14 21966407 21966407 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019852.3 -1 reviewed p.L580V 0.967 196 0% 128 34.4% 45 40% benign(0.003) deleterious(0.04) neutral(0.349) NULL METTL3 56339 genome.wustl.edu 37 14 21967459 21967459 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019852.3 -1 reviewed p.I503 0.230 278 0% 119 47.9% 80 32.5% - - - HMMPfam_MT-A70 OR4E2 26686 genome.wustl.edu 37 14 22134019 22134019 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001912.1 +1 validated p.S241 0.207 300 0% 72 37.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CDH24 64403 genome.wustl.edu 37 14 23524790 23524790 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022478.3 -1 validated p.F51L 1.000 25 0% 35 48.6% 5 40% probably_damaging(0.983) tolerated(0.1) deleterious(0.716) HMMPfam_Cadherin,superfamily_Cadherin-like CEBPE 1053 genome.wustl.edu 37 14 23588056 23588056 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001805.2 -1 reviewed p.P82L 0.983 37 0% 16 31.2% 0 - probably_damaging(0.998) tolerated(0.56) deleterious(0.481) NULL CMTM5 116173 genome.wustl.edu 37 14 23848580 23848580 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138460.2 +1 reviewed p.G149R 0.005 85 0% 76 48.7% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL MYH6 4624 genome.wustl.edu 37 14 23851715 23851715 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002471.3 -1 validated p.D1906E 0.975 255 0.4% 93 48.4% 0 - benign(0.001) tolerated(1) - HMMPfam_Myosin_tail_1 MIR208A 406990 genome.wustl.edu 37 14 23857867 23857867 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000362287 -1 known NULL 0.978 83 0% 47 46.8% 0 - - - - - MYH6 4624 genome.wustl.edu 37 14 23869930 23869930 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002471.3 -1 validated p.F466 0.998 75 0% 76 44.7% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23897865 23897865 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000257.2 -1 reviewed p.E474D 1.000 453 0% 207 41.5% 0 - probably_damaging(0.969) deleterious(0.03) deleterious(0.776) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23898261 23898261 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000257.2 -1 reviewed p.N437T 1.000 173 0% 58 36.2% 0 - benign(0.001) tolerated(0.32) neutral(0.024) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases LRRC16B 90668 genome.wustl.edu 37 14 24531739 24531739 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138360.3 +1 validated p.E844G 1.000 35 0% 33 48.5% 0 - unknown(0) deleterious(0) - NULL CPNE6 9362 genome.wustl.edu 37 14 24542738 24542738 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006032.2 +1 reviewed p.S67P 0.985 51 0% 35 42.9% 0 - possibly_damaging(0.901) tolerated(0.08) deleterious(0.657) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CPNE6 9362 genome.wustl.edu 37 14 24546491 24546491 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006032.2 +1 reviewed p.F476L 1.000 55 0% 46 10.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00327,superfamily_vWA-like ADCY4 196883 genome.wustl.edu 37 14 24792142 24792142 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139247.2 -1 reviewed p.I770 0.055 35 0% 26 50% 0 - - - - NULL KHNYN 23351 genome.wustl.edu 37 14 24905359 24905359 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015299.2 +1 validated p.E553D 0.350 72 0% 61 42.6% 33 24.2% benign(0.001) tolerated(0.55) neutral(0.007) NULL NOVA1 4857 genome.wustl.edu 37 14 26949206 26949206 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002515.2 -1 reviewed p.V142I 1.000 260 0% 142 51.4% 0 - possibly_damaging(0.907) tolerated(0.38) neutral(0.378) NULL NOVA1 4857 genome.wustl.edu 37 14 27064722 27064722 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002515.2 -1 reviewed p.S58R 1.000 93 0% 140 39.3% 0 - unknown(0) deleterious(0.01) - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) PRKD1 5587 genome.wustl.edu 37 14 30046482 30046482 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002742.2 -1 validated p.E901* 1.000 235 0% 21 28.6% 11 54.5% - - - NULL G2E3 55632 genome.wustl.edu 37 14 31058655 31058655 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017769.3 +1 validated p.D68N 1.000 113 0% 97 43.3% 16 56.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SCFD1 23256 genome.wustl.edu 37 14 31109067 31109067 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016106.2 +1 validated p.R174C 1.000 190 0% 128 47.7% 36 55.5% possibly_damaging(0.675) tolerated(0.06) deleterious(0.562) HMMPfam_Sec1,superfamily_Sec1-like STRN3 29966 genome.wustl.edu 37 14 31416358 31416358 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083893.1 -1 validated p.K218N 1.000 302 0% 150 39.3% 13 53.8% possibly_damaging(0.699) tolerated(0.34) neutral(0.275) NULL HECTD1 25831 genome.wustl.edu 37 14 31647417 31647417 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015382.2 -1 validated p.L62I 1.000 193 0% 122 18.9% 10 10% possibly_damaging(0.64) tolerated(0.1) deleterious(0.510) superfamily_ARM repeat HEATR5A 25938 genome.wustl.edu 37 14 31765146 31765146 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015473.2 -1 validated p.F1570C 1.000 274 0% 181 43.6% 10 30% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM repeat HEATR5A 25938 genome.wustl.edu 37 14 31817009 31817009 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015473.2 -1 validated p.S645Y 1.000 131 0% 65 49.2% 5 60% benign(0.098) deleterious(0) neutral(0.452) superfamily_ARM repeat HEATR5A 25938 genome.wustl.edu 37 14 31855776 31855776 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015473.2 -1 validated p.V106I 0.077 128 0% 65 36.9% 3 33.3% benign(0.001) tolerated(0.4) neutral(0.016) superfamily_ARM repeat ARHGAP5 394 genome.wustl.edu 37 14 32562015 32562015 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001030055.1 +1 reviewed p.L714I 1.000 56 0% 31 45.2% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP6 9472 genome.wustl.edu 37 14 33014920 33014920 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004274.4 +1 reviewed p.H354R 0.028 41 0% 19 36.8% 1 0% benign(0.014) deleterious(0.01) neutral(0.406) NULL AKAP6 9472 genome.wustl.edu 37 14 33015296 33015296 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004274.4 +1 reviewed p.S479 0.854 54 0% 25 40% 0 - - - - NULL AKAP6 9472 genome.wustl.edu 37 14 33292239 33292239 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004274.4 +1 reviewed p.V1740 0.997 255 0.4% 30 50% 0 - - - - NULL NPAS3 64067 genome.wustl.edu 37 14 34269487 34269487 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173159.2 +1 reviewed p.F645 0.775 6 0.000 5 0.800 0 - - - - NULL EGLN3 112399 genome.wustl.edu 37 14 34396185 34396185 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022073.3 -1 validated p.K223N 1.000 112 0% 66 39.4% 199 36.6% benign(0.002) tolerated(0.29) neutral(0.029) NULL SNX6 58533 genome.wustl.edu 37 14 35055490 35055490 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152233.2 -1 reviewed p.R259I 1.000 110 0% 202 36.6% 59 44% possibly_damaging(0.92) deleterious(0.05) deleterious(0.716) HMMPfam_Vps5 BAZ1A 11177 genome.wustl.edu 37 14 35233994 35233994 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013448.2 -1 validated p.D1232G 0.997 843 0% 318 41.5% 52 55.7% possibly_damaging(0.465) deleterious(0.03) deleterious(0.517) NULL BAZ1A 11177 genome.wustl.edu 37 14 35270332 35270332 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013448.2 -1 validated p.K310R 0.999 150 0% 307 44% 12 41.6% possibly_damaging(0.925) tolerated(0.13) deleterious(0.626) NULL KIAA0391 9692 genome.wustl.edu 37 14 35592828 35592828 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014672.2 +1 provisional p.K126T 0.994 69 0% 97 43.3% 26 53.8% possibly_damaging(0.619) tolerated(0.3) neutral(0.244) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36155765 36155765 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194301.2 -1 provisional p.R848* 1.000 55 0% 47 48.9% 6 16.6% - - - NULL BRMS1L 84312 genome.wustl.edu 37 14 36300615 36300615 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032352.3 +1 reviewed e2-1 1.000 145 0% 172 40.7% 0 - - - - - SLC25A21 89874 genome.wustl.edu 37 14 37194792 37194792 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030631.3 -1 validated p.R141W 1.000 128 0% 68 38.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitoch_carrier,HMMPfam_Mito_carr MIPOL1 145282 genome.wustl.edu 37 14 37736254 37736254 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138731.5 +1 validated p.E44A 0.001 134 0% 40 50% 7 42.8% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL SSTR1 6751 genome.wustl.edu 37 14 38679327 38679327 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001049.2 +1 reviewed p.L245I 1.000 97 0% 29 48.3% 5 80% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 MIA2 117153 genome.wustl.edu 37 14 39722405 39722405 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_054024.3 +1 validated p.I639 0.001 106 0% 115 49.6% 0 - - - - NULL LRFN5 145581 genome.wustl.edu 37 14 42356124 42356124 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152447.3 +1 validated p.R99Q 0.999 51 0% 72 48.6% 0 - possibly_damaging(0.85) tolerated(0.11) deleterious(0.599) HMMSmart_LRR_TYP,superfamily_SSF52058 FSCB 84075 genome.wustl.edu 37 14 44975624 44975624 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032135.3 -1 validated p.K189N 0.001 221 0% 198 52.5% 0 - benign(0.379) tolerated(0.58) neutral(0.126) NULL KLHL28 54813 genome.wustl.edu 37 14 45415035 45415035 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017658.3 -1 validated p.E33K 1.000 96 0% 36 41.7% 2 0% probably_damaging(0.999) tolerated(0.25) deleterious(0.527) superfamily_POZ domain,HMMPfam_BTB FANCM 57697 genome.wustl.edu 37 14 45665528 45665528 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020937.2 +1 reviewed p.E1832* 0.982 167 0% 99 43.4% 4 25% - - - HMMPfam_ERCC4,superfamily_Restriction endonuclease-like MIS18BP1 55320 genome.wustl.edu 37 14 45673642 45673642 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018353.4 -1 validated p.F1085L 0.182 245 0% 125 36% 34 44.1% benign(0) tolerated(0.63) neutral(0.004) NULL MDGA2 161357 genome.wustl.edu 37 14 47426662 47426662 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113498.1 -1 validated p.K599N 1.000 137 0% 55 12.7% 0 - benign(0) tolerated(0.15) neutral(0.241) superfamily_SSF48726 LRR1 122769 genome.wustl.edu 37 14 50074144 50074144 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152329.3 +1 reviewed p.F103L 1.000 11 0% 65 49.2% 15 60% benign(0) tolerated(0.3) neutral(0.029) superfamily_L domain-like DNAAF2 55172 genome.wustl.edu 37 14 50092616 50092616 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018139.2 -1 reviewed p.D720Y 0.000 118 0% 264 30.7% 34 29.4% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL POLE2 5427 genome.wustl.edu 37 14 50141138 50141138 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002692.2 -1 provisional p.V85I 0.996 132 0% 199 43.7% 7 57.1% benign(0) tolerated(0.64) neutral(0.003) NULL NEMF 9147 genome.wustl.edu 37 14 50296127 50296127 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004713.3 -1 validated p.K321N 1.000 458 0% 360 39.4% 11 45.4% possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL NEMF 9147 genome.wustl.edu 37 14 50318342 50318342 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004713.3 -1 validated p.R57Q 1.000 146 0% 271 38.7% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FbpA ENSG00000248297 0 genome.wustl.edu 37 14 50459333 50459333 + RNA SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000508586 +1 novel NULL 0.000 23 0% 47 31.9% 0 - - - - - SOS2 6655 genome.wustl.edu 37 14 50612254 50612254 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006939.2 -1 validated p.N815K 1.000 131 0% 242 50.4% 6 33.3% benign(0.044) tolerated(1) neutral(0.003) HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF SOS2 6655 genome.wustl.edu 37 14 50623748 50623748 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006939.2 -1 validated p.R676C 1.000 129 0% 66 43.9% 20 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGEF_N,HMMSmart_RasGEFN,superfamily_Ras_GEF L2HGDH 79944 genome.wustl.edu 37 14 50713876 50713876 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024884.2 -1 reviewed p.R431H 0.984 42 0% 64 39.1% 11 27.2% possibly_damaging(0.736) tolerated(0.1) deleterious(0.555) HMMPfam_DAO MAP4K5 11183 genome.wustl.edu 37 14 50971534 50971534 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006575.3 -1 reviewed p.I50 0.765 180 0% 44 50% 10 60% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TMX1 81542 genome.wustl.edu 37 14 51710664 51710664 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030755.4 +1 validated p.A81 1.000 388 0% 220 49.5% 58 34.4% - - - superfamily_Thioredoxin-like,HMMPfam_Thioredoxin C14orf166 51637 genome.wustl.edu 37 14 52460469 52460469 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016039.2 +1 validated p.K72R 1.000 429 0% 219 48.4% 245 23.6% benign(0.022) tolerated(0.45) neutral(0.013) HMMPfam_RLL NID2 22795 genome.wustl.edu 37 14 52520480 52520480 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007361.3 -1 validated p.E416K 0.001 205 0% 57 42.1% 17 76.4% benign(0.025) tolerated(0.47) neutral(0.012) NULL NID2 22795 genome.wustl.edu 37 14 52520522 52520522 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007361.3 -1 validated p.D402Y 0.017 191 0% 70 48.6% 18 11.1% benign(0.054) tolerated(0.06) neutral(0.326) NULL PTGDR 5729 genome.wustl.edu 37 14 52741536 52741536 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000953.2 +1 reviewed p.L312I 0.057 129 0% 133 50.4% 0 - possibly_damaging(0.696) tolerated(0.3) neutral(0.278) HMMPfam_7tm_1,superfamily_SSF81321 TXNDC16 57544 genome.wustl.edu 37 14 52907383 52907383 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020784.2 -1 validated p.I634M 0.997 143 0.7% 97 43.3% 26 46.1% benign(0.011) deleterious(0.02) neutral(0.384) NULL GPR137C 283554 genome.wustl.edu 37 14 53098996 53098996 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099652.1 +1 provisional p.F279C 1.000 157 0% 77 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR137C 283554 genome.wustl.edu 37 14 53100371 53100371 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099652.1 +1 provisional p.L331V 1.000 128 0% 69 47.8% 6 33.3% possibly_damaging(0.931) tolerated(0.15) deleterious(0.619) NULL PSMC6 5706 genome.wustl.edu 37 14 53175044 53175044 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002806.3 +1 reviewed p.E49* 1.000 142 0% 342 43.3% 51 3.9% - - - NULL FERMT2 10979 genome.wustl.edu 37 14 53326418 53326418 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134999.1 -1 validated p.K588T 1.000 340 0% 196 41.8% 20 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DDHD1 80821 genome.wustl.edu 37 14 53529871 53529871 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030637.2 -1 validated p.S519Y 1.000 146 0% 62 46.8% 7 28.5% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL BMP4 652 genome.wustl.edu 37 14 54417556 54417556 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001202.3 -1 reviewed p.L141I 0.999 21 0% 16 56.2% 21 33.3% benign(0.008) tolerated(0.17) neutral(0.059) HMMPfam_TGFb_propeptide GMFB 2764 genome.wustl.edu 37 14 54950452 54950452 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004124.2 -1 validated p.D13Y 1.000 97 0% 65 46.2% 38 50% possibly_damaging(0.811) deleterious(0) deleterious(0.750) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins WDHD1 11169 genome.wustl.edu 37 14 55453875 55453875 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007086.2 -1 reviewed p.V586A 1.000 106 0% 69 43.5% 17 58.8% benign(0.004) tolerated(0.64) neutral(0.003) superfamily_WD40_like TBPL2 387332 genome.wustl.edu 37 14 55895616 55895616 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199047.2 -1 validated p.D289N 1.000 105 0% 55 47.3% 0 - benign(0.015) tolerated(0.3) neutral(0.029) HMMPfam_TBP,superfamily_TFIID_C/glycos_N TBPL2 387332 genome.wustl.edu 37 14 55903622 55903622 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199047.2 -1 validated p.E89* 0.077 223 0% 220 45.9% 0 - - - - NULL KTN1 3895 genome.wustl.edu 37 14 56079160 56079160 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079521.1 +1 validated p.E132* 1.000 61 0% 38 52.6% 34 8.8% - - - NULL C14orf101 54916 genome.wustl.edu 37 14 57070639 57070639 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017799.3 +1 validated p.L151I 1.000 222 0% 92 41.3% 3 66.6% probably_damaging(0.954) tolerated(0.08) deleterious(0.698) NULL EXOC5 10640 genome.wustl.edu 37 14 57684765 57684765 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006544.3 -1 reviewed p.E516 1.000 111 0% 53 47.2% 12 16.6% - - - HMMPfam_Sec10 MUDENG 55745 genome.wustl.edu 37 14 57741641 57741641 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000446279 +1 known p.L252 0.000 16 0% 43 48.8% 1 100% - - - NULL C14orf37 145407 genome.wustl.edu 37 14 58605754 58605754 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001872.2 -1 predicted p.R108H 0.000 121 0% 82 25.6% 2 0% benign(0) tolerated(0.12) neutral(0.261) NULL ARID4A 5926 genome.wustl.edu 37 14 58768334 58768334 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002892.3 +1 reviewed p.D15N 1.000 66 0% 60 41.7% 2 0% benign(0.188) deleterious(0) neutral(0.462) NULL ARID4A 5926 genome.wustl.edu 37 14 58831391 58831391 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002892.3 +1 reviewed p.Q862* 1.000 57 0% 67 35.8% 4 25% - - - NULL DACT1 51339 genome.wustl.edu 37 14 59105207 59105207 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016651.5 +1 validated p.R96H 1.000 24 0% 13 46.2% 0 - probably_damaging(0.999) tolerated(0.53) deleterious(0.498) NULL C14orf38 729665 genome.wustl.edu 37 14 60031890 60031890 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000281581 -1 known p.Y199H 0.089 797 0% 299 45.2% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL C14orf39 317761 genome.wustl.edu 37 14 60925416 60925416 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174978.2 -1 validated p.E387K 1.000 335 0% 81 39.5% 0 - benign(0.224) deleterious(0.03) neutral(0.387) NULL C14orf39 317761 genome.wustl.edu 37 14 60938353 60938353 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174978.2 -1 validated p.R143I 0.990 235 0% 109 41.3% 0 - possibly_damaging(0.8) deleterious(0.01) deleterious(0.707) NULL TRMT5 57570 genome.wustl.edu 37 14 61446306 61446306 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020810.2 -1 validated p.E104* 1.000 232 0% 229 39.7% 15 60% - - - NULL HIF1A 3091 genome.wustl.edu 37 14 62199237 62199237 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001530.3 +1 validated p.H292R 1.000 170 0.6% 81 34.6% 56 48.2% benign(0.256) deleterious(0.03) neutral(0.391) HMMSmart_SM00091,HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain) HIF1A 3091 genome.wustl.edu 37 14 62205023 62205023 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001530.3 +1 validated p.T490A 1.000 84 0% 97 41.2% 53 49% benign(0.019) tolerated(0.31) neutral(0.028) NULL SYT16 83851 genome.wustl.edu 37 14 62547551 62547551 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031914.2 +1 validated e4-1 1.000 46 0% 10 60% 0 - - - - - RHOJ 57381 genome.wustl.edu 37 14 63749845 63749845 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020663.3 +1 provisional p.L137I 1.000 211 0% 66 40.9% 1 0% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PPP2R5E 5529 genome.wustl.edu 37 14 63861955 63861955 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006246.2 -1 reviewed p.E243D 1.000 14 0% 90 46.7% 24 37.5% possibly_damaging(0.515) deleterious(0) deleterious(0.618) HMMPfam_B56,superfamily_ARM repeat SYNE2 23224 genome.wustl.edu 37 14 64460577 64460577 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182914.2 +1 reviewed p.K891E 0.026 72 0% 71 42.3% 6 66.6% possibly_damaging(0.882) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64490980 64490980 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182914.2 +1 reviewed p.F1881L 1.000 69 0% 43 37.2% 1 0% possibly_damaging(0.942) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64518414 64518414 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182914.2 +1 reviewed p.L2595V 0.149 98 0% 97 48.5% 7 14.2% probably_damaging(0.995) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64519655 64519655 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182914.2 +1 reviewed p.I3008 0.097 34 0% 40 20% 10 20% - - - NULL SYNE2 23224 genome.wustl.edu 37 14 64545313 64545313 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182914.2 +1 reviewed p.E3718* 1.000 72 0% 128 43% 13 23% - - - HMMSmart_SPEC SYNE2 23224 genome.wustl.edu 37 14 64560109 64560109 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182914.2 +1 reviewed p.N4007H 0.908 95 0% 129 44.2% 7 28.5% possibly_damaging(0.905) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64596502 64596502 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182914.2 +1 reviewed p.K4674N 1.000 156 0% 103 34% 19 10.5% unknown(0) - - NULL ZBTB25 7597 genome.wustl.edu 37 14 64954763 64954763 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006977.2 -1 validated p.K62N 1.000 30 0% 65 47.7% 3 66.6% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB HSPA2 3306 genome.wustl.edu 37 14 65008734 65008734 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021979.3 +1 validated p.E389D 1.000 10 0% 17 41.2% 10 40% benign(0) deleterious(0) neutral(0.445) HMMPfam_HSP70,superfamily_SSF100920 PPP1R36 145376 genome.wustl.edu 37 14 65041236 65041236 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172365.1 +1 predicted p.Y199* 0.999 169 0% 78 50% 0 - - - - NULL SPTB 6710 genome.wustl.edu 37 14 65252519 65252519 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024858.2 -1 reviewed p.G1238* 0.033 106 0% 132 37.1% 0 - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MAX 4149 genome.wustl.edu 37 14 65543383 65543383 + Splice_Site SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002382.3 -1 reviewed e5-2 1.000 127 0% 56 50% 26 92.3% - - - - FUT8 2530 genome.wustl.edu 37 14 66083894 66083894 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004480.3 +1 reviewed p.R27I 0.995 105 0% 145 35.2% 0 - unknown(0) tolerated(0.08) - NULL FUT8 2530 genome.wustl.edu 37 14 66096287 66096287 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178154.1 +1 reviewed p.L187R 1.000 231 0% 98 41.8% 16 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MPP5 64398 genome.wustl.edu 37 14 67768117 67768117 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022474.2 +1 validated p.V196 0.998 106 0% 69 52.2% 15 53.3% - - - HMMSmart_SM00569,HMMPfam_L27 PLEK2 26499 genome.wustl.edu 37 14 67859109 67859109 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016445.1 -1 provisional p.E235D 1.000 253 0% 124 43.5% 5 20% possibly_damaging(0.545) tolerated(0.43) neutral(0.199) superfamily_SSF46785,superfamily_SSF50729 PLEKHH1 57475 genome.wustl.edu 37 14 68048796 68048796 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020715.2 +1 validated p.R1099C 1.000 103 0% 96 51% 20 55% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Second domain of FERM,HMMSmart_SM00295 EXD2 55218 genome.wustl.edu 37 14 69701577 69701577 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018199.2 +1 provisional p.R168Q 1.000 87 0% 86 40.7% 18 44.4% possibly_damaging(0.95) tolerated(0.37) neutral(0.413) NULL SLC39A9 55334 genome.wustl.edu 37 14 69922547 69922547 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018375.3 +1 validated p.P219 0.997 205 0% 109 38.5% 27 62.9% - - - HMMPfam_Zip ENSG00000175985 0 genome.wustl.edu 37 14 69994005 69994005 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000322564 +1 known p.K386T 1.000 57 0% 25 40% 1 100% benign(0.033) tolerated(0.56) neutral(0.008) NULL KIAA0247 9766 genome.wustl.edu 37 14 70175520 70175520 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014734.3 +1 validated p.R195 0.996 87 0% 24 33.3% 15 33.3% - - - NULL SMOC1 64093 genome.wustl.edu 37 14 70420220 70420220 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001034852.1 +1 validated p.E117* 1.000 209 0% 62 53.2% 1 0% - - - HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain ADAM21 8747 genome.wustl.edu 37 14 70925117 70925117 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003813.2 +1 reviewed p.N301H 0.001 129 0% 61 34.4% 0 - benign(0.001) tolerated(0.47) neutral(0.011) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM20 8748 genome.wustl.edu 37 14 70990636 70990636 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003814.4 -1 reviewed p.S330Y 0.000 197 0.5% 23 43.5% 0 - possibly_damaging(0.816) deleterious(0) deleterious(0.753) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM20 8748 genome.wustl.edu 37 14 70990646 70990646 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003814.4 -1 reviewed p.E327* 0.000 211 0% 25 44% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" PCNX 22990 genome.wustl.edu 37 14 71568713 71568713 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014982.2 +1 validated p.F1866L 1.000 56 0% 50 48% 11 54.5% possibly_damaging(0.837) deleterious(0.02) deleterious(0.703) HMMPfam_Pecanex_C SIPA1L1 26037 genome.wustl.edu 37 14 72054863 72054863 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015556.1 +1 provisional p.E92* 1.000 192 0% 33 39.4% 16 50% - - - NULL SIPA1L1 26037 genome.wustl.edu 37 14 72117181 72117181 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015556.1 +1 provisional p.R650W 1.000 182 0% 32 56.2% 19 68.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) SIPA1L1 26037 genome.wustl.edu 37 14 72197010 72197010 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015556.1 +1 provisional p.S1639L 0.995 137 0% 56 55.4% 49 55.1% benign(0.265) deleterious(0.01) neutral(0.433) NULL RGS6 9628 genome.wustl.edu 37 14 72926360 72926360 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004296.4 +1 validated p.S121 0.000 162 0% 50 52% 1 100% - - - "superfamily_""Winged helix"" DNA-binding domain" RGS6 9628 genome.wustl.edu 37 14 72961862 72961862 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004296.4 +1 validated p.L286* 1.000 356 0% 71 47.9% 0 - - - - HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain RGS6 9628 genome.wustl.edu 37 14 72976903 72976903 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004296.4 +1 validated p.S336Y 0.999 118 0% 91 36.3% 2 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS ZFYVE1 53349 genome.wustl.edu 37 14 73464710 73464710 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021260.1 -1 reviewed p.R266Q 1.000 136 0% 56 53.6% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000248570 0 genome.wustl.edu 37 14 73743189 73743189 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000504856 +1 novel NULL 0.997 22 0% 42 54.8% 58 43.1% - - - - ACOT2 10965 genome.wustl.edu 37 14 74042137 74042137 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006821.4 +1 validated p.V458M 0.977 92 0% 77 31.2% 23 34.7% benign(0.117) tolerated(0.07) neutral(0.329) HMMPfam_BAAT_C,superfamily_alpha/beta-Hydrolases DNAL1 83544 genome.wustl.edu 37 14 74138285 74138285 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031427.2 +1 validated p.K83N 1.000 17 0% 74 32.4% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00365,superfamily_L domain-like DNAL1 83544 genome.wustl.edu 37 14 74156179 74156179 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031427.2 +1 validated p.E165* 1.000 124 0% 170 46.5% 9 22.2% - - - superfamily_L domain-like PNMA1 9240 genome.wustl.edu 37 14 74179673 74179673 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006029.4 -1 validated p.I224V 0.218 14 0% 29 37.9% 22 45.4% possibly_damaging(0.896) tolerated(0.07) deleterious(0.672) NULL PNMA1 9240 genome.wustl.edu 37 14 74180079 74180079 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006029.4 -1 validated p.W88C 1.000 38 0% 101 37.6% 17 23.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF410 57862 genome.wustl.edu 37 14 74387808 74387808 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021188.1 +1 provisional p.A377T 1.000 164 0% 51 56.9% 57 14% unknown(0) deleterious(0) - NULL FAM161B 145483 genome.wustl.edu 37 14 74400974 74400974 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152445.1 -1 predicted p.L643 0.003 232 0% 180 52.2% 7 57.1% - - - NULL COQ6 51004 genome.wustl.edu 37 14 74425871 74425871 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182476.1 +1 validated p.E243* 1.000 169 0% 119 49.6% 13 0% - - - HMMPfam_FAD_binding_3,superfamily_SSF51905 ABCD4 5826 genome.wustl.edu 37 14 74761882 74761882 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005050.3 -1 reviewed p.R230W 1.000 140 0% 57 47.4% 27 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane_2,superfamily_ABC_TM_1 LTBP2 4053 genome.wustl.edu 37 14 74972894 74972894 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000428.2 -1 reviewed p.D1345G 1.000 58 0% 16 25% 7 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin KIAA0317 9870 genome.wustl.edu 37 14 75142432 75142432 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039479.1 -1 validated p.P350 0.052 122 0% 46 34.8% 17 70.5% - - - NULL KIAA0317 9870 genome.wustl.edu 37 14 75150147 75150147 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039479.1 -1 validated p.I111M 0.998 186 0% 34 26.5% 21 28.5% benign(0.145) deleterious(0.01) neutral(0.418) superfamily_E set domains,HMMPfam_Filamin YLPM1 56252 genome.wustl.edu 37 14 75283969 75283969 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019589.2 +1 validated p.E1979* 1.000 125 0% 97 39.2% 33 9% - - - NULL YLPM1 56252 genome.wustl.edu 37 14 75283971 75283971 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019589.2 +1 validated p.E1979 1.000 125 0% 97 47.4% 35 74.2% - - - NULL YLPM1 56252 genome.wustl.edu 37 14 75287835 75287835 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019589.2 +1 validated p.E2036K 1.000 83 0% 56 44.6% 79 73.4% benign(0.35) deleterious(0.02) deleterious(0.494) NULL PROX2 283571 genome.wustl.edu 37 14 75329502 75329502 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080408.1 -1 provisional p.L346I 0.011 62 0% 82 39% 0 - benign(0.032) deleterious(0.03) neutral(0.366) NULL MLH3 27030 genome.wustl.edu 37 14 75483882 75483882 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040108.1 -1 reviewed p.L1422R 1.000 219 0% 79 50.6% 12 75% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL MLH3 27030 genome.wustl.edu 37 14 75514581 75514581 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040108.1 -1 reviewed p.R593I 0.000 195 0% 295 41.7% 7 28.5% unknown(0) tolerated(1) - NULL MLH3 27030 genome.wustl.edu 37 14 75515244 75515244 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040108.1 -1 reviewed p.S372N 0.756 78 0% 147 40.8% 3 66.6% unknown(0) tolerated(0.1) - NULL MLH3 27030 genome.wustl.edu 37 14 75515686 75515686 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040108.1 -1 reviewed p.E225* 1.000 35 0% 54 38.9% 1 100% - - - HMMPfam_DNA_mis_repair,superfamily_Ribosomal protein S5 domain 2-like TMED10 10972 genome.wustl.edu 37 14 75602547 75602547 + Nonsense_Mutation SNP G G A rs17103066 byCluster TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006827.5 -1 reviewed p.R152* 0.901 170 0% 145 52.4% 290 24.1% - - - HMMPfam_EMP24_GP25L FLVCR2 55640 genome.wustl.edu 37 14 76101261 76101261 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017791.2 +1 validated p.E343D 1.000 138 0% 61 16.4% 1 0% possibly_damaging(0.653) deleterious(0.02) deleterious(0.613) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter C14orf118 55668 genome.wustl.edu 37 14 76668171 76668171 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017926.2 +1 validated p.E476* 0.988 114 0% 20 65% 6 33.3% - - - NULL ESRRB 2103 genome.wustl.edu 37 14 76948464 76948464 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004452.3 +1 reviewed p.K207T 1.000 153 0% 55 36.4% 1 0% possibly_damaging(0.49) tolerated(0.3) neutral(0.192) superfamily_Str_ncl_receptor ZDHHC22 283576 genome.wustl.edu 37 14 77605856 77605856 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174976.2 -1 validated p.L76M 0.999 24 0% 16 68.8% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL TMEM63C 57156 genome.wustl.edu 37 14 77685893 77685893 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020431.2 +1 validated p.R68H 1.000 156 0% 63 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL POMT2 29954 genome.wustl.edu 37 14 77751949 77751949 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013382.5 -1 reviewed p.F453L 1.000 67 0% 52 63.5% 13 38.4% benign(0.001) tolerated(0.71) neutral(0.002) HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 SAMD15 161394 genome.wustl.edu 37 14 77844428 77844428 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010860.1 +1 provisional p.E223* 0.012 42 0% 44 43.2% 3 66.6% - - - NULL SAMD15 161394 genome.wustl.edu 37 14 77845214 77845214 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010860.1 +1 provisional p.L485V 0.000 217 0% 161 43.5% 8 37.5% benign(0.002) tolerated(0.14) neutral(0.249) NULL SNW1 22938 genome.wustl.edu 37 14 78187157 78187157 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012245.2 -1 reviewed p.R382K 1.000 307 0% 121 52.9% 107 42.9% benign(0.006) tolerated(0.24) neutral(0.037) NULL NRXN3 9369 genome.wustl.edu 37 14 80328255 80328255 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004796.4 +1 reviewed p.S1045L 1.000 118 0% 70 44.3% 15 60% benign(0.012) deleterious(0.03) neutral(0.365) NULL DIO2 1734 genome.wustl.edu 37 14 80669060 80669060 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007023.2 -1 reviewed p.R301I 1.000 132 0% 74 45.9% 3 0% possibly_damaging(0.923) deleterious(0.03) deleterious(0.737) NULL DIO2 1734 genome.wustl.edu 37 14 80669258 80669258 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007023.2 -1 reviewed p.L235R 0.996 120 0% 61 59% 1 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_T4_deiodinase CEP128 145508 genome.wustl.edu 37 14 81304597 81304597 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152446.3 -1 validated p.R292Q 0.998 171 0% 139 45.3% 12 58.3% probably_damaging(0.963) tolerated(0.42) neutral(0.420) NULL CEP128 145508 genome.wustl.edu 37 14 81307063 81307063 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152446.3 -1 validated p.K271I 0.998 418 0% 288 46.9% 7 14.2% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL CEP128 145508 genome.wustl.edu 37 14 81371200 81371200 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152446.3 -1 validated p.R146I 0.962 486 0% 116 42.2% 2 50% possibly_damaging(0.901) tolerated(0.05) deleterious(0.702) NULL CEP128 145508 genome.wustl.edu 37 14 81371215 81371215 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152446.3 -1 validated p.K141T 0.128 521 0% 108 46.3% 1 100% possibly_damaging(0.907) tolerated(0.15) deleterious(0.601) NULL TSHR 7253 genome.wustl.edu 37 14 81422084 81422084 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000369.2 +1 reviewed p.G20 0.000 108 0% 25 56% 0 - - - - NULL TSHR 7253 genome.wustl.edu 37 14 81554299 81554299 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000369.2 +1 reviewed p.E107* 1.000 139 0% 85 42.4% 0 - - - - superfamily_L domain-like GALC 2581 genome.wustl.edu 37 14 88401162 88401162 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000153.2 -1 reviewed p.F658V 0.022 266 0% 28 46.4% 6 16.6% benign(0.03) tolerated(0.49) neutral(0.012) HMMPfam_Glyco_hydro_59 PTPN21 11099 genome.wustl.edu 37 14 88935997 88935997 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007039.3 -1 reviewed p.K1027 1.000 123 0% 68 48.5% 7 42.8% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPN21 11099 genome.wustl.edu 37 14 88974340 88974340 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007039.3 -1 reviewed p.K125N 1.000 277 0% 129 47.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 EML5 161436 genome.wustl.edu 37 14 89084596 89084596 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183387.2 -1 validated p.R1873I 1.000 218 0% 111 47.7% 0 - benign(0.026) tolerated(0.19) neutral(0.051) superfamily_WD40 repeat-like EML5 161436 genome.wustl.edu 37 14 89130878 89130878 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183387.2 -1 validated p.G1123V 1.000 120 0% 90 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like TDP1 55775 genome.wustl.edu 37 14 90451002 90451002 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008744.1 +1 reviewed p.H343N 0.990 180 0% 91 49.5% 20 50% benign(0.008) deleterious(0.04) neutral(0.349) HMMPfam_Tyr-DNA_phospho,superfamily_SSF56024 KCNK13 56659 genome.wustl.edu 37 14 90651281 90651281 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022054.2 +1 reviewed p.F387L 1.000 7 0.000 8 0.750 0 - benign(0.072) tolerated(0.34) neutral(0.028) NULL RPS6KA5 9252 genome.wustl.edu 37 14 91340000 91340000 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004755.2 -1 validated p.H712 0.996 215 0% 92 52.2% 2 50% - - - NULL CATSPERB 79820 genome.wustl.edu 37 14 92139327 92139327 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024764.2 -1 validated p.L338I 0.000 57 0% 57 49.1% 0 - possibly_damaging(0.653) tolerated(0.28) neutral(0.261) NULL TC2N 123036 genome.wustl.edu 37 14 92280104 92280104 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128595.1 -1 validated p.E4* 1.000 182 0% 47 42.6% 12 33.3% - - - NULL FBLN5 10516 genome.wustl.edu 37 14 92353634 92353634 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006329.3 -1 reviewed p.E214D 0.999 202 0% 64 46.9% 23 4.3% benign(0.001) tolerated(0.6) neutral(0.004) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin TRIP11 9321 genome.wustl.edu 37 14 92466409 92466409 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004239.3 -1 reviewed p.S1534* 1.000 272 0% 141 44.7% 10 10% - - - NULL ATXN3 4287 genome.wustl.edu 37 14 92548797 92548797 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004993.5 -1 reviewed p.D208N 1.000 136 0% 114 43.9% 14 21.4% possibly_damaging(0.439) tolerated(0.06) neutral(0.466) NULL CPSF2 53981 genome.wustl.edu 37 14 92608529 92608529 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017437.1 +1 validated p.R228Q 1.000 468 0% 214 47.7% 46 50% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) superfamily_Metallo-hydrolase/oxidoreductase SLC24A4 123041 genome.wustl.edu 37 14 92920304 92920304 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153646.2 +1 validated p.S297F 1.000 172 0% 85 42.4% 0 - possibly_damaging(0.822) deleterious(0.05) deleterious(0.656) NULL RIN3 79890 genome.wustl.edu 37 14 93022224 93022224 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024832.3 +1 validated p.K58T 0.001 59 0% 47 59.6% 4 75% unknown(0) tolerated(0.15) - superfamily_SH2 domain MOAP1 64112 genome.wustl.edu 37 14 93649738 93649738 + Missense_Mutation SNP C C G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022151.4 -1 reviewed p.A284P 0.210 59 0% 90 43.3% 86 48.8% probably_damaging(0.99) tolerated(0.19) deleterious(0.491) NULL C14orf142 84520 genome.wustl.edu 37 14 93670040 93670040 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032490.4 -1 validated p.P99L 0.036 386 0% 470 43.4% 15 33.3% possibly_damaging(0.913) tolerated(0.08) deleterious(0.664) NULL UNC79 57578 genome.wustl.edu 37 14 93943946 93943946 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000393153 +1 known p.P164H 1.000 576 0% 60 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UNC79 57578 genome.wustl.edu 37 14 94048629 94048629 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020818.3 +1 validated p.E737D 1.000 129 0% 39 48.7% 0 - benign(0) tolerated(0.06) neutral(0.323) NULL UNC79 57578 genome.wustl.edu 37 14 94052959 94052959 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020818.3 +1 validated p.E764K 1.000 87 0% 127 15.7% 0 - benign(0.141) tolerated(0.09) neutral(0.308) NULL UNC79 57578 genome.wustl.edu 37 14 94088677 94088677 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020818.3 +1 validated p.D1523N 0.813 129 0% 37 51.4% 0 - possibly_damaging(0.444) tolerated(0.4) neutral(0.161) NULL UNC79 57578 genome.wustl.edu 37 14 94139711 94139711 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020818.3 +1 validated p.F2079L 1.000 319 0% 198 41.4% 0 - benign(0.019) tolerated(0.68) neutral(0.003) NULL DDX24 57062 genome.wustl.edu 37 14 94524236 94524236 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020414.3 -1 reviewed p.L641I 1.000 119 0% 38 47.4% 94 34% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 PPP4R4 57718 genome.wustl.edu 37 14 94700961 94700961 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_058237.1 +1 reviewed p.R229Q 1.000 343 0% 183 43.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat PPP4R4 57718 genome.wustl.edu 37 14 94732160 94732160 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_058237.1 +1 reviewed p.R772* 1.000 81 0% 66 53% 0 - - - - NULL SERPINA10 51156 genome.wustl.edu 37 14 94756237 94756237 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100607.1 -1 reviewed p.L232I 0.039 183 0% 172 36% 0 - benign(0.047) deleterious(0) neutral(0.448) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA6 866 genome.wustl.edu 37 14 94770827 94770827 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001756.3 -1 reviewed p.P382 1.000 230 0% 85 43.5% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN,superfamily_Serpins SERPINA11 256394 genome.wustl.edu 37 14 94912889 94912889 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080451.1 -1 provisional p.F232L 0.063 380 0% 66 45.5% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin DICER1 23405 genome.wustl.edu 37 14 95562746 95562746 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030621.3 -1 reviewed p.S1504N 1.000 132 0% 61 44.3% 9 77.7% probably_damaging(0.978) tolerated(0.08) deleterious(0.720) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,superfamily_RNase_III CLMN 79789 genome.wustl.edu 37 14 95670039 95670039 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024734.3 -1 validated p.A549 0.000 159 0% 127 40.2% 6 16.6% - - - NULL BDKRB2 624 genome.wustl.edu 37 14 96707034 96707034 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000623.3 +1 reviewed p.W123* 1.000 84 0% 29 41.4% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like BDKRB2 624 genome.wustl.edu 37 14 96707678 96707678 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000623.3 +1 reviewed p.R338H 1.000 89 0% 34 41.2% 3 66.6% benign(0.006) tolerated(0.25) neutral(0.037) superfamily_Family A G protein-coupled receptor-like BDKRB1 623 genome.wustl.edu 37 14 96730864 96730864 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000710.2 +1 reviewed p.R282Q 0.008 100 0% 105 42.9% 2 0% benign(0.021) tolerated(0.65) neutral(0.004) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like BDKRB1 623 genome.wustl.edu 37 14 96730958 96730958 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000710.2 +1 reviewed p.V313 0.988 47 0% 66 53% 0 - - - - superfamily_Family A G protein-coupled receptor-like ATG2B 55102 genome.wustl.edu 37 14 96769458 96769458 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018036.5 -1 validated p.M1659I 1.000 226 0% 124 34.7% 6 33.3% benign(0.002) tolerated(1) - NULL ATG2B 55102 genome.wustl.edu 37 14 96790312 96790312 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018036.5 -1 validated p.D821N 0.968 143 0% 70 47.1% 2 0% benign(0) tolerated(0.36) neutral(0.020) NULL ATG2B 55102 genome.wustl.edu 37 14 96797850 96797850 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018036.5 -1 validated p.Q531H 0.687 103 0% 67 52.2% 0 - benign(0.029) tolerated(0.26) neutral(0.036) NULL ATG2B 55102 genome.wustl.edu 37 14 96800138 96800138 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018036.5 -1 validated p.R365Q 1.000 247 0% 87 52.9% 4 75% probably_damaging(0.985) tolerated(0.33) neutral(0.456) NULL AK7 122481 genome.wustl.edu 37 14 96924488 96924488 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152327.2 +1 validated p.E432D 0.951 104 0% 66 50% 0 - benign(0) tolerated(0.17) neutral(0.059) superfamily_P-loop containing nucleoside triphosphate hydrolases PAPOLA 10914 genome.wustl.edu 37 14 96991725 96991725 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032632.3 +1 validated p.K110Q 1.000 88 0% 116 51.7% 120 35.8% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_NTP_transf_2,HMMPfam_PAP_central,superfamily_Nucleotidyltransferase PAPOLA 10914 genome.wustl.edu 37 14 96998682 96998682 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032632.3 +1 validated p.D208N 1.000 128 0% 127 41.7% 94 44.6% probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_PAP_central,superfamily_Nucleotidyltransferase VRK1 7443 genome.wustl.edu 37 14 97327070 97327070 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003384.2 +1 reviewed p.K356E 0.986 287 0% 107 41.1% 64 48.4% possibly_damaging(0.881) tolerated(0.34) neutral(0.367) NULL CYP46A1 10858 genome.wustl.edu 37 14 100157469 100157469 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000380228 +1 known p.A14V 1.000 277 0% 574 43.9% 0 - - - - NULL LOC100288131 100288131 genome.wustl.edu 37 14 101194904 101194904 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343290.1 -1 model p.L74V 0.004 19 0% 25 36% 0 - - - - NULL RTL1 388015 genome.wustl.edu 37 14 101348660 101348660 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134888.2 -1 reviewed p.F822 0.980 55 0% 52 38.5% 0 - - - - superfamily_DNA/RNA polymerases RTL1 388015 genome.wustl.edu 37 14 101349834 101349834 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134888.2 -1 reviewed p.S431L 0.995 18 0% 24 100% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) superfamily_Acid proteases RTL1 388015 genome.wustl.edu 37 14 101350150 101350150 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134888.2 -1 reviewed p.L326V 1.000 49 0% 50 52% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_Retrotrans_gag MIR1185-1 100302157 genome.wustl.edu 37 14 101509364 101509364 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000408598 +1 known NULL 0.518 94 0% 245 38% 0 - - - - - MIR487B 664616 genome.wustl.edu 37 14 101512845 101512845 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000385021 +1 known NULL 1.000 154 0% 268 47% 0 - - - - - MIR485 574436 genome.wustl.edu 37 14 101521775 101521775 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000385292 +1 known NULL 1.000 215 0.5% 86 43% 0 - - - - - MIR656 724026 genome.wustl.edu 37 14 101533134 101533134 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000385224 +1 known NULL 0.001 175 0% 140 35% 0 - - - - - DYNC1H1 1778 genome.wustl.edu 37 14 102452337 102452337 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001376.4 +1 reviewed p.F592S 1.000 78 0% 37 51.4% 21 38% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N1 RCOR1 23186 genome.wustl.edu 37 14 103180856 103180856 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015156.2 +1 validated p.L316I 1.000 160 0% 131 12.2% 17 5.8% possibly_damaging(0.627) tolerated(0.71) neutral(0.220) NULL TRAF3 7187 genome.wustl.edu 37 14 103369615 103369615 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003300.2 +1 reviewed p.E328D 1.000 92 0% 115 50.4% 20 60% benign(0) tolerated(0.81) neutral(0.001) NULL CDC42BPB 9578 genome.wustl.edu 37 14 103436544 103436544 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006035.3 -1 reviewed p.R647C 0.996 92 1.1% 36 41.7% 70 54.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDC42BPB 9578 genome.wustl.edu 37 14 103478522 103478522 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006035.3 -1 reviewed p.K60T 1.000 169 0% 300 44% 15 73.3% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) superfamily_Kinase_like EIF5 1983 genome.wustl.edu 37 14 103806788 103806788 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001969.3 +1 validated p.E366* 1.000 64 0% 93 36.6% 132 7.5% - - - HMMPfam_W2,HMMSmart_SM00515,superfamily_ARM repeat MARK3 4140 genome.wustl.edu 37 14 103946820 103946820 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128918.1 +1 validated p.E527* 1.000 69 0% 102 49% 76 21% - - - NULL C14orf2 9556 genome.wustl.edu 37 14 104380315 104380315 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127393.1 -1 validated p.R61I 1.000 79 0% 160 43.1% 226 11.9% - - - HMMPfam_Mit_proteolip TDRD9 122402 genome.wustl.edu 37 14 104488514 104488514 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153046.2 +1 validated p.R818L 0.723 98 0% 26 76.9% 0 - probably_damaging(0.992) tolerated(0.06) deleterious(0.770) NULL ADSSL1 122622 genome.wustl.edu 37 14 105212696 105212696 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199165.1 +1 validated p.F475S 1.000 30 0% 23 34.8% 2 0% possibly_damaging(0.916) tolerated(0.08) deleterious(0.667) HMMPfam_Adenylsucc_synt,HMMSmart_Adenylsucc_synt,superfamily_SSF52540 AHNAK2 113146 genome.wustl.edu 37 14 105404722 105404722 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138420.2 -1 validated p.K5689R 0.000 45 0% 117 42.7% 9 33.3% possibly_damaging(0.662) - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105407408 105407408 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138420.2 -1 validated p.K4794Q 0.002 25 0% 87 48.3% 1 100% possibly_damaging(0.896) tolerated(0.55) neutral(0.360) NULL AHNAK2 113146 genome.wustl.edu 37 14 105411358 105411358 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138420.2 -1 validated p.K3477T 1.000 76 0% 160 45% 2 100% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL AHNAK2 113146 genome.wustl.edu 37 14 105418764 105418764 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138420.2 -1 validated p.F1008 0.009 67 0% 173 52.6% 0 - - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105421098 105421098 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138420.2 -1 validated p.T230 0.000 17 0% 46 41.3% 1 0% - - - NULL GPR132 29933 genome.wustl.edu 37 14 105517402 105517402 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013345.2 -1 reviewed p.T358A 0.000 105 0% 89 39.3% 3 0% benign(0.244) tolerated(0.14) neutral(0.274) NULL IGHG4 3503 genome.wustl.edu 37 14 106091246 106091246 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390543 -1 known p.I216 0.875 1013 0.1% 339 25.1% 39 0% - - - superfamily_SSF48726 IGHG2 3501 genome.wustl.edu 37 14 106109615 106109615 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390545 -1 known p.F302L 0.001 788 0% 206 26.7% 1116 0% possibly_damaging(0.74) deleterious(0) deleterious(0.716) PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHG1 3500 genome.wustl.edu 37 14 106208713 106208713 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390548 -1 known p.S102Y 0.000 518 0% 323 35.3% 1169 0% benign(0) tolerated(0.07) neutral(0.319) superfamily_Immunoglobulin IGHG3 3502 genome.wustl.edu 37 14 106236665 106236665 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390550 -1 known p.L134I 0.013 1226 0% 511 23.1% 595 0% unknown(0) tolerated(0.08) - NULL IGHV1-2 28474 genome.wustl.edu 37 14 106452853 106452853 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390594 -1 known p.R57* 0.931 165 0% 159 45.3% 22 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV1-8 28472 genome.wustl.edu 37 14 106539271 106539271 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390599 -1 known p.I53 0.000 450 0% 88 43.2% 7 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV1-8 28472 genome.wustl.edu 37 14 106539313 106539313 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390599 -1 known p.V39 0.998 321 0% 70 54.3% 12 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV3-13 28449 genome.wustl.edu 37 14 106586180 106586180 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390602 -1 known p.N102S 0.304 66 1.5% 52 25% 0 - benign(0.009) tolerated(0.43) neutral(0.014) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV3-16 28447 genome.wustl.edu 37 14 106622116 106622116 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390604 -1 known p.A43 0.358 318 0% 130 38.5% 8 0% - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV1-18 28468 genome.wustl.edu 37 14 106641974 106641974 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390605 -1 known p.L8 0.036 211 0% 119 55.5% 25 0% - - - NULL IGHV@ 3509 genome.wustl.edu 37 14 106725435 106725435 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390609 -1 known p.L39 0.417 322 0% 140 18.6% 60 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV3-64 28414 genome.wustl.edu 37 14 107113868 107113868 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000454421 -1 known p.G76D 0.000 174 0% 128 43.8% 0 - benign(0.003) tolerated(0.1) neutral(0.286) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV1-69 28461 genome.wustl.edu 37 14 107169965 107169965 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390633 -1 known p.R106I 0.941 306 0% 82 31.7% 13 0% benign(0.317) deleterious(0.02) deleterious(0.482) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin ENSG00000215407 0 genome.wustl.edu 37 15 20457279 20457279 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000400226 -1 known p.E204* 1.000 95 0% 93 19.4% 4 0% - - - HMMPfam_BRO1 GOLGA6L6 727832 genome.wustl.edu 37 15 20740394 20740394 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145004.1 -1 inferred p.K452N 0.984 425 0% 253 5.9% 0 - unknown(0) tolerated(0.11) - NULL TUBGCP5 114791 genome.wustl.edu 37 15 22835915 22835915 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102610.1 +1 validated e2-1 1.000 65 0% 232 44.4% 1 0% - - - - CYFIP1 23191 genome.wustl.edu 37 15 22929782 22929782 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014608.2 +1 validated p.F152 0.993 68 0% 40 57.5% 49 26.5% - - - HMMPfam_FragX_IP CYFIP1 23191 genome.wustl.edu 37 15 22935938 22935938 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014608.2 +1 validated p.L292V 1.000 305 0% 323 46.4% 42 64.2% possibly_damaging(0.867) deleterious(0.01) deleterious(0.742) HMMPfam_FragX_IP CYFIP1 23191 genome.wustl.edu 37 15 22956552 22956552 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014608.2 +1 validated p.R597* 1.000 43 0% 71 39.4% 45 6.6% - - - HMMPfam_FragX_IP LOC283683 283683 genome.wustl.edu 37 15 23142589 23142589 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_015696.3 -1 model NULL 1.000 108 0% 42 33.3% 0 - - - - - LOC283685 283685 genome.wustl.edu 37 15 23686466 23686466 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343322.1 -1 model p.R348W 0.002 32 0% 27 55.6% 0 - unknown(0) deleterious(0) - NULL LOC100289059 100289059 genome.wustl.edu 37 15 25414716 25414716 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343317.1 -1 model p.P139 0.003 6 0.000 13 0.385 0 - - - - NULL UBE3A 7337 genome.wustl.edu 37 15 25616011 25616011 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000462.2 -1 reviewed p.R440Q 0.996 71 1.4% 50 46% 26 34.6% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL GABRB3 2562 genome.wustl.edu 37 15 26793203 26793203 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000814.4 -1 reviewed p.D387N 0.994 142 0% 33 54.5% 0 - possibly_damaging(0.736) tolerated(0.19) neutral(0.319) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRB3 2562 genome.wustl.edu 37 15 26806109 26806109 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000814.4 -1 reviewed p.K350N 1.000 605 0% 198 38.9% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRG3 2567 genome.wustl.edu 37 15 27772763 27772763 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033223.4 +1 validated p.K350N 1.000 312 0% 68 47.1% 0 - benign(0.003) deleterious(0.05) neutral(0.345) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM OCA2 4948 genome.wustl.edu 37 15 28196959 28196959 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000275.2 -1 reviewed p.S641L 1.000 259 0% 165 45.5% 0 - possibly_damaging(0.852) deleterious(0) deleterious(0.772) HMMPfam_CitMHS HERC2 8924 genome.wustl.edu 37 15 28362215 28362215 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004667.4 -1 reviewed p.S4453L 1.000 47 0% 21 52.4% 28 42.8% benign(0.006) tolerated(0.51) neutral(0.009) HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC2 8924 genome.wustl.edu 37 15 28380658 28380658 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004667.4 -1 reviewed p.A4066T 1.000 142 0% 123 37.4% 15 46.6% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC2 8924 genome.wustl.edu 37 15 28386977 28386977 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004667.4 -1 reviewed p.R3906C 0.915 129 0% 131 29% 8 37.5% benign(0.167) tolerated(0.05) neutral(0.360) NULL HERC2 8924 genome.wustl.edu 37 15 28391470 28391470 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004667.4 -1 reviewed p.E3641* 1.000 150 0% 35 48.6% 6 50% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28459906 28459906 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004667.4 -1 reviewed p.D2085N 1.000 110 0% 40 45% 2 100% benign(0.097) tolerated(0.85) neutral(0.008) NULL HERC2 8924 genome.wustl.edu 37 15 28474649 28474649 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004667.4 -1 reviewed p.F1693L 1.000 254 0% 213 43.7% 4 25% benign(0) tolerated(1) - NULL HERC2 8924 genome.wustl.edu 37 15 28482250 28482250 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004667.4 -1 reviewed p.E1288* 1.000 230 0% 173 31.2% 6 16.6% - - - superfamily_Cytochrome b5-like heme/steroid binding domain TJP1 7082 genome.wustl.edu 37 15 30025512 30025512 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003257.3 -1 validated p.R508C 1.000 136 0% 112 37.5% 44 45.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SH3-domain,superfamily_PDZ domain-like TJP1 7082 genome.wustl.edu 37 15 30034920 30034920 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003257.3 -1 validated p.A359V 0.004 362 0% 264 42% 33 60.6% benign(0) tolerated(0.48) neutral(0.011) NULL FAN1 22909 genome.wustl.edu 37 15 31212806 31212806 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014967.4 +1 reviewed p.R668G 0.351 324 0% 306 40.8% 14 57.1% possibly_damaging(0.748) deleterious(0.01) deleterious(0.680) NULL TRPM1 4308 genome.wustl.edu 37 15 31294517 31294517 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002420.4 -1 reviewed p.F1440 0.313 229 0% 110 48.2% 0 - - - - NULL OTUD7A 161725 genome.wustl.edu 37 15 31818566 31818566 + Silent SNP G G A rs184361722 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130901.1 -1 provisional p.G286 0.947 29 0% 16 50% 0 - - - - HMMPfam_OTU OTUD7A 161725 genome.wustl.edu 37 15 31823009 31823009 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130901.1 -1 provisional p.R185C 1.000 111 0% 51 43.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OTUD7A 161725 genome.wustl.edu 37 15 31851206 31851206 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130901.1 -1 provisional p.I172 0.969 128 0% 28 39.3% 0 - - - - NULL OTUD7A 161725 genome.wustl.edu 37 15 31947344 31947344 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130901.1 -1 provisional p.R36W 1.000 157 0% 28 50% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_UBA-like ARHGAP11A 9824 genome.wustl.edu 37 15 32920998 32920998 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014783.3 +1 validated p.R311I 0.658 61 0% 66 34.8% 15 20% benign(0.392) deleterious(0.01) deleterious(0.531) NULL ARHGAP11A 9824 genome.wustl.edu 37 15 32926192 32926192 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014783.3 +1 validated p.R432* 1.000 76 0% 53 50.9% 17 17.6% - - - NULL ARHGAP11A 9824 genome.wustl.edu 37 15 32929034 32929034 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014783.3 +1 validated p.T687I 0.000 16 0% 23 47.8% 14 85.7% benign(0.002) tolerated(0.09) neutral(0.296) NULL ARHGAP11A 9824 genome.wustl.edu 37 15 32929125 32929125 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014783.3 +1 validated p.F717L 0.000 15 0% 22 27.3% 24 62.5% benign(0) tolerated(0.84) neutral(0.001) NULL FMN1 342184 genome.wustl.edu 37 15 33261642 33261642 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001103184.2 -1 validated p.E531K 1.000 301 0% 110 50% 2 50% unknown(0) deleterious(0) - NULL FMN1 342184 genome.wustl.edu 37 15 33359542 33359542 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001103184.2 -1 validated p.E182* 0.100 68 1.5% 61 44.3% 0 - - - - NULL RYR3 6263 genome.wustl.edu 37 15 33876627 33876627 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001036.3 +1 validated p.C535 0.994 146 0% 46 52.2% 0 - - - - HMMPfam_RYDR_ITPR RYR3 6263 genome.wustl.edu 37 15 34061322 34061322 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001036.3 +1 validated p.S2922Y 1.000 183 0% 125 48% 0 - possibly_damaging(0.849) - - NULL RYR3 6263 genome.wustl.edu 37 15 34080594 34080594 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001036.3 +1 validated p.F3255 0.741 42 0% 32 56.2% 0 - - - - NULL RYR3 6263 genome.wustl.edu 37 15 34123273 34123273 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001036.3 +1 validated p.S3815Y 1.000 180 0% 138 42.8% 0 - probably_damaging(0.996) - - HMMPfam_RIH_assoc CHRM5 1133 genome.wustl.edu 37 15 34355008 34355008 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012125.3 +1 validated p.V30 0.997 224 0% 120 39.2% 0 - - - - superfamily_SSF81321 C15orf24 56851 genome.wustl.edu 37 15 34388111 34388111 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020154.2 -1 validated p.S114L 1.000 126 0% 164 29.3% 93 48.3% probably_damaging(0.955) deleterious(0.04) deleterious(0.748) HMMPfam_DUF2012 PGBD4 161779 genome.wustl.edu 37 15 34395336 34395336 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152595.4 +1 validated p.R202W 1.000 157 0% 231 45.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C15orf55 256646 genome.wustl.edu 37 15 34646896 34646896 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175741.1 +1 validated p.I414N 0.988 165 0% 148 44.6% 0 - possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) NULL GOLGA8A 23015 genome.wustl.edu 37 15 34678872 34678872 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181077.3 -1 reviewed p.S80L 0.988 556 0% 438 21% 25 24% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GJD2 57369 genome.wustl.edu 37 15 35044885 35044885 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020660.1 -1 provisional p.L254I 1.000 142 0% 107 42.1% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Connexin_CCC ACTC1 70 genome.wustl.edu 37 15 35084451 35084451 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005159.4 -1 reviewed p.E216D 1.000 98 0% 69 42% 0 - benign(0.071) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTC1 70 genome.wustl.edu 37 15 35084465 35084465 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005159.4 -1 reviewed p.R212C 1.000 88 0% 67 53.7% 0 - possibly_damaging(0.905) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain AQR 9716 genome.wustl.edu 37 15 35166040 35166040 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014691.2 -1 validated p.Y1196H 1.000 87 0% 35 42.9% 36 44.4% benign(0.072) tolerated(0.31) neutral(0.032) NULL AQR 9716 genome.wustl.edu 37 15 35176777 35176777 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014691.2 -1 validated p.E992D 1.000 211 0% 114 50.9% 27 33.3% benign(0.001) tolerated(0.61) neutral(0.004) superfamily_SSF52540 ZNF770 54989 genome.wustl.edu 37 15 35274404 35274404 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014106.2 -1 validated p.S411Y 0.676 36 0% 107 40.2% 20 35% probably_damaging(0.995) tolerated(0.22) deleterious(0.499) NULL TMCO5A 145942 genome.wustl.edu 37 15 38228630 38228630 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152453.2 +1 provisional p.L36I 0.986 192 0% 47 51.1% 0 - possibly_damaging(0.585) tolerated(0.14) neutral(0.451) NULL TMCO5A 145942 genome.wustl.edu 37 15 38235576 38235576 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152453.2 +1 provisional p.E202* 0.000 368 0% 69 39.1% 0 - - - - NULL FAM98B 283742 genome.wustl.edu 37 15 38757579 38757579 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173611.2 +1 validated p.K109N 0.047 85 0% 38 44.7% 33 36.3% benign(0.282) tolerated(0.66) neutral(0.089) HMMPfam_DUF2465 C15orf54 400360 genome.wustl.edu 37 15 39544831 39544831 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207445.2 +1 validated p.I165 0.000 41 0.000 6 0.667 0 - - - - NULL FSIP1 161835 genome.wustl.edu 37 15 40030355 40030355 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152597.4 -1 validated p.K276N 0.996 311 0% 169 45.6% 1 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL EIF2AK4 440275 genome.wustl.edu 37 15 40300268 40300268 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013703.2 +1 validated p.R1150 1.000 272 0% 102 40.2% 24 0% - - - HMMPfam_tRNA-synt_2b,superfamily_Class II aaRS and biotin synthetases EIF2AK4 440275 genome.wustl.edu 37 15 40303518 40303518 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013703.2 +1 validated p.F1244V 1.000 307 0% 203 49.3% 12 16.6% possibly_damaging(0.93) tolerated(0.48) neutral(0.387) superfamily_Class II aaRS and biotin synthetases PAK6 56924 genome.wustl.edu 37 15 40565763 40565763 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128628.1 +1 reviewed p.S543 0.019 25 0% 69 53.6% 14 64.2% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C15orf52 388115 genome.wustl.edu 37 15 40627456 40627456 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207380.2 -1 validated p.P503L 0.000 8 0.000 17 0.294 0 - benign(0.002) deleterious(0) neutral(0.445) NULL C15orf23 90417 genome.wustl.edu 37 15 40675470 40675470 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033286.3 +1 validated p.K84T 0.323 52 0% 36 36.1% 25 60% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL IVD 3712 genome.wustl.edu 37 15 40702993 40702993 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000473112 +1 known p.R71Q 1.000 47 2.1% 25 64% 21 66.6% - - - HMMPfam_Acyl-CoA_dh_N,superfamily_Acyl-CoA dehydrogenase NM domain-like RPUSD2 27079 genome.wustl.edu 37 15 40866020 40866020 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152260.1 +1 provisional p.R400W 0.978 55 0% 24 33.3% 13 69.2% probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_PsdUridine_synth_cat_dom CASC5 57082 genome.wustl.edu 37 15 40917515 40917515 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_170589.3 +1 validated p.E1711* 0.995 59 0% 77 46.8% 8 0% - - - NULL EXD1 161829 genome.wustl.edu 37 15 41476523 41476523 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152596.2 -1 provisional p.S384Y 0.004 164 0% 190 47.9% 0 - benign(0.267) deleterious(0) deleterious(0.473) NULL EXD1 161829 genome.wustl.edu 37 15 41488141 41488141 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152596.2 -1 provisional p.R152I 0.998 87 0% 150 49.3% 0 - possibly_damaging(0.948) deleterious(0.05) deleterious(0.736) HMMPfam_3_5_exonuc,HMMSmart_SM00474,superfamily_Ribonuclease H-like LTK 4058 genome.wustl.edu 37 15 41796560 41796560 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002344.5 -1 reviewed p.R776C 0.678 27 0% 34 44.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MGA 23269 genome.wustl.edu 37 15 42035217 42035217 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080541.2 +1 validated p.T1736A 1.000 422 0% 222 45.9% 4 50% possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL SPTBN5 51332 genome.wustl.edu 37 15 42143119 42143119 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016642.2 -1 validated p.E3583D 0.001 22 0% 21 47.6% 2 50% possibly_damaging(0.792) deleterious(0) deleterious(0.742) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SPTBN5 51332 genome.wustl.edu 37 15 42144859 42144859 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016642.2 -1 validated p.E3439D 0.901 38 0% 37 37.8% 3 0% probably_damaging(0.966) tolerated(0.12) deleterious(0.668) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PLA2G4F 255189 genome.wustl.edu 37 15 42442640 42442640 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_213600.3 -1 validated p.G272 0.000 26 0% 17 41.2% 3 33.3% - - - NULL PLA2G4F 255189 genome.wustl.edu 37 15 42447765 42447765 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_213600.3 -1 validated p.D45A 1.000 194 0% 80 37.5% 1 0% possibly_damaging(0.923) tolerated(0.69) neutral(0.374) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) VPS39 23339 genome.wustl.edu 37 15 42458405 42458405 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015289.2 -1 reviewed p.F544L 1.000 122 0% 85 12.9% 26 7.6% benign(0.067) tolerated(0.33) neutral(0.029) HMMPfam_Vps39_1 VPS39 23339 genome.wustl.edu 37 15 42466034 42466034 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015289.2 -1 reviewed p.S326F 1.000 178 0% 196 43.4% 17 35.2% benign(0.001) tolerated(0.12) neutral(0.261) NULL MIR627 693212 genome.wustl.edu 37 15 42491772 42491772 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000384979 -1 known NULL 0.000 83 0% 110 45.5% 0 - - - - - ZFP106 64397 genome.wustl.edu 37 15 42731777 42731777 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022473.1 -1 provisional p.S1310Y 1.000 87 0% 57 84.2% 7 100% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL STARD9 57519 genome.wustl.edu 37 15 42930955 42930955 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001129482.3 +1 model p.K168N 0.998 169 0% 135 52.6% 1 100% benign(0.021) - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases STARD9 57519 genome.wustl.edu 37 15 42957985 42957985 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001129482.3 +1 model e15-1 1.000 285 0% 157 35.7% 0 - benign(0.243) - - - STARD9 57519 genome.wustl.edu 37 15 42977059 42977059 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001129482.3 +1 model p.E1047* 0.997 39 0% 59 42.4% 1 100% - - - NULL STARD9 57519 genome.wustl.edu 37 15 42978609 42978609 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001129482.3 +1 model p.E1525 0.010 74 0% 121 43.8% 0 - - - - NULL STARD9 57519 genome.wustl.edu 37 15 42978614 42978614 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001129482.3 +1 model p.A1527V 0.000 67 0% 121 47.9% 0 - benign(0.006) - - NULL UBR1 197131 genome.wustl.edu 37 15 43282296 43282296 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174916.2 -1 reviewed p.F1260L 0.000 66 0% 91 45.1% 2 100% benign(0) tolerated(0.76) neutral(0.001) NULL UBR1 197131 genome.wustl.edu 37 15 43308052 43308052 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174916.2 -1 reviewed p.E1015* 1.000 114 0% 235 36.6% 7 0% - - - NULL TGM5 9333 genome.wustl.edu 37 15 43545745 43545745 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201631.3 -1 reviewed p.R215W 0.589 167 0% 43 39.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cysteine proteinases ADAL 161823 genome.wustl.edu 37 15 43632484 43632484 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012969.2 +1 validated p.E93* 1.000 162 0% 108 38% 6 0% - - - HMMPfam_A_deaminase,superfamily_SSF51556 TP53BP1 7158 genome.wustl.edu 37 15 43766960 43766960 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001141980.1 -1 validated p.S364Y 0.998 118 0% 75 34.7% 13 61.5% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL MAP1A 4130 genome.wustl.edu 37 15 43814895 43814895 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002373.5 +1 reviewed p.K408N 1.000 67 0% 162 45.7% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPIP5K1 9677 genome.wustl.edu 37 15 43826978 43826978 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130858.1 -1 validated p.A1399V 0.677 73 0% 59 57.6% 13 46.1% benign(0) deleterious(0.01) neutral(0.406) NULL CATSPER2 117155 genome.wustl.edu 37 15 43931107 43931107 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172095.1 -1 reviewed p.F279L 0.986 62 0% 39 92.3% 0 - possibly_damaging(0.812) tolerated(0.65) neutral(0.308) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels FRMD5 84978 genome.wustl.edu 37 15 44184244 44184244 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032892.3 -1 validated p.F221L 1.000 150 0% 142 42.3% 5 60% benign(0.009) tolerated(0.11) neutral(0.272) HMMPfam_FERM_C,superfamily_PH domain-like CTDSPL2 51496 genome.wustl.edu 37 15 44778895 44778895 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016396.2 +1 validated p.N158H 1.000 50 0% 126 49.2% 19 52.6% benign(0.03) tolerated(0.09) neutral(0.298) NULL SPG11 80208 genome.wustl.edu 37 15 44856864 44856864 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025137.3 -1 reviewed p.V2344 1.000 75 0% 102 30.4% 12 8.3% - - - NULL SPG11 80208 genome.wustl.edu 37 15 44876666 44876666 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025137.3 -1 reviewed p.F1738V 0.982 32 0% 42 28.6% 14 50% probably_damaging(0.977) deleterious(0.05) deleterious(0.764) NULL SPG11 80208 genome.wustl.edu 37 15 44890503 44890503 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025137.3 -1 reviewed p.E1321* 1.000 171 0% 203 51.2% 5 0% - - - NULL DUOX2 50506 genome.wustl.edu 37 15 45387161 45387161 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014080.4 -1 reviewed p.E1456D 1.000 182 0% 59 44.1% 0 - benign(0.235) tolerated(0.11) neutral(0.295) HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain DUOX2 50506 genome.wustl.edu 37 15 45392330 45392330 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014080.4 -1 reviewed p.F1034 0.996 88 0% 62 41.9% 0 - - - - NULL DUOX2 50506 genome.wustl.edu 37 15 45405547 45405547 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014080.4 -1 reviewed p.G21 0.002 29 0% 27 48.1% 0 - - - - NULL DUOX1 53905 genome.wustl.edu 37 15 45428076 45428076 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017434.3 +1 reviewed p.R265H 0.011 48 0% 20 25% 0 - possibly_damaging(0.811) tolerated(0.08) deleterious(0.605) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases DUOX1 53905 genome.wustl.edu 37 15 45455738 45455738 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017434.3 +1 reviewed p.F1419L 1.000 183 0% 89 47.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain GATM 2628 genome.wustl.edu 37 15 45658330 45658330 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001482.2 -1 reviewed p.D298Y 1.000 160 0% 114 44.7% 22 54.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Amidinotransf,superfamily_Pentein PLDN 26258 genome.wustl.edu 37 15 45898632 45898632 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012388.2 +1 reviewed p.E147* 1.000 219 0% 187 41.7% 53 26.4% - - - NULL SQRDL 58472 genome.wustl.edu 37 15 45965849 45965849 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021199.2 +1 provisional p.S168 0.801 81 0% 175 53.1% 16 0% - - - HMMPfam_Pyr_redox_2,superfamily_SSF51905 SEMA6D 80031 genome.wustl.edu 37 15 48055262 48055262 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153618.1 +1 reviewed p.F236L 1.000 303 0% 63 41.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SLC12A1 6557 genome.wustl.edu 37 15 48541839 48541839 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000338.2 +1 reviewed p.F584L 1.000 973 0% 295 42.7% 0 - benign(0.111) tolerated(0.31) neutral(0.036) HMMPfam_AA_permease FBN1 2200 genome.wustl.edu 37 15 48718025 48718025 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000138.4 -1 reviewed p.R2414Q 0.996 181 0% 64 35.9% 16 12.5% benign(0.027) tolerated(0.4) neutral(0.018) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,HMMPfam_EGF_CA,PatternScan_EGF_CA FBN1 2200 genome.wustl.edu 37 15 48760722 48760722 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000138.4 -1 reviewed p.E1490A 1.000 118 0% 43 55.8% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin ENSG00000250663 0 genome.wustl.edu 37 15 49170962 49170962 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000508082 -1 novel NULL 1.000 151 0% 98 49% 199 39.6% - - - - ENSG00000250663 0 genome.wustl.edu 37 15 49170995 49170995 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000508082 -1 novel NULL 0.000 101 0% 79 30.4% 192 46.8% - - - - GALK2 2585 genome.wustl.edu 37 15 49574198 49574198 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002044.2 +1 reviewed p.E173D 1.000 383 0% 46 54.3% 10 50% benign(0.128) tolerated(0.5) neutral(0.021) HMMPfam_GHMP_kinases_N,superfamily_Ribosomal_S5_D2-typ_fold C15orf33 196951 genome.wustl.edu 37 15 49860462 49860462 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152647.2 -1 validated p.R243* 0.005 136 0.7% 42 42.9% 0 - - - - NULL DTWD1 56986 genome.wustl.edu 37 15 49926848 49926848 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144955.1 +1 validated p.S175F 0.001 101 0% 28 35.7% 23 47.8% benign(0) tolerated(0.22) neutral(0.042) HMMPfam_DTW ATP8B4 79895 genome.wustl.edu 37 15 50171590 50171590 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024837.2 -1 validated p.M922V 1.000 136 0% 88 39.8% 0 - benign(0.001) tolerated(0.92) - superfamily_SSF81665 SLC27A2 11001 genome.wustl.edu 37 15 50519277 50519277 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003645.3 +1 reviewed p.V453 0.999 188 0.5% 154 43.5% 8 75% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like USP8 9101 genome.wustl.edu 37 15 50790857 50790857 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128610.1 +1 validated p.L1035I 1.000 73 1.4% 96 46.9% 37 40.5% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_UCH,superfamily_SSF54001 USP50 373509 genome.wustl.edu 37 15 50833339 50833339 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203494.4 -1 validated p.I194 0.746 350 0% 110 39.1% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 TRPM7 54822 genome.wustl.edu 37 15 50867122 50867122 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017672.4 -1 reviewed p.S1649Y 1.000 128 0% 127 44.1% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alpha_kinase,HMMSmart_Alpha_kinase,superfamily_Kinase_like TRPM7 54822 genome.wustl.edu 37 15 50885830 50885830 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017672.4 -1 reviewed p.R1198C 1.000 115 0% 110 49.1% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AP4E1 23431 genome.wustl.edu 37 15 51226828 51226828 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007347.3 +1 validated p.E293* 1.000 87 0% 120 33.3% 2 0% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold CYP19A1 1588 genome.wustl.edu 37 15 51504725 51504725 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000103.3 -1 reviewed p.K352T 1.000 458 0% 63 41.3% 0 - unknown(0) deleterious(0.01) - HMMPfam_p450,superfamily_Cytochrome_P450 CYP19A1 1588 genome.wustl.edu 37 15 51507953 51507953 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000103.3 -1 reviewed p.E269* 0.763 910 0% 159 42.1% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP19A1 1588 genome.wustl.edu 37 15 51510853 51510853 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000103.3 -1 reviewed e5-1 1.000 185 0% 48 50% 1 0% - - - - DMXL2 23312 genome.wustl.edu 37 15 51741195 51741195 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015263.3 -1 validated p.L3033I 1.000 46 0% 34 41.2% 7 85.7% benign(0.047) deleterious(0.04) neutral(0.352) NULL DMXL2 23312 genome.wustl.edu 37 15 51742425 51742425 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015263.3 -1 validated p.L2934 0.001 208 0% 64 45.3% 9 55.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DMXL2 23312 genome.wustl.edu 37 15 51757797 51757797 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015263.3 -1 validated p.K2523N 1.000 65 0% 67 46.3% 3 33.3% possibly_damaging(0.936) deleterious(0.02) deleterious(0.764) superfamily_WD40 repeat-like DMXL2 23312 genome.wustl.edu 37 15 51828437 51828437 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015263.3 -1 validated p.R747Q 1.000 248 0% 44 43.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320 SCG3 29106 genome.wustl.edu 37 15 51984503 51984503 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013243.3 +1 reviewed p.F280V 1.000 135 0% 74 41.9% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL SCG3 29106 genome.wustl.edu 37 15 51991521 51991521 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013243.3 +1 reviewed p.L331 1.000 81 0% 92 40.2% 0 - - - - NULL TMOD2 29767 genome.wustl.edu 37 15 52098584 52098584 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014548.3 +1 reviewed p.L296S 1.000 91 0% 39 41% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tropomodulin,superfamily_SSF52047 LEO1 123169 genome.wustl.edu 37 15 52242139 52242139 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138792.2 -1 provisional p.R555Q 1.000 136 0% 64 45.3% 15 13.3% probably_damaging(0.96) deleterious(0.02) deleterious(0.786) HMMPfam_Leo1 LEO1 123169 genome.wustl.edu 37 15 52252927 52252927 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138792.2 -1 provisional p.N308T 0.290 253 0% 180 40% 17 82.3% benign(0.026) tolerated(1) neutral(0.001) HMMPfam_Leo1 LEO1 123169 genome.wustl.edu 37 15 52258279 52258279 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138792.2 -1 provisional p.N161H 0.899 354 0% 191 52.4% 13 76.9% possibly_damaging(0.887) tolerated(0.19) neutral(0.396) NULL LEO1 123169 genome.wustl.edu 37 15 52258702 52258702 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138792.2 -1 provisional e2-1 1.000 172 0% 107 57.9% 0 - - - - - MYO5C 55930 genome.wustl.edu 37 15 52543640 52543640 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018728.2 -1 validated p.E537* 1.000 113 0% 170 40% 12 16.6% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5A 4644 genome.wustl.edu 37 15 52605946 52605946 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000259.3 -1 reviewed p.E1839* 1.000 110 0% 143 51.7% 7 42.8% - - - NULL MYO5A 4644 genome.wustl.edu 37 15 52659253 52659253 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000259.3 -1 reviewed p.I1045 0.042 333 0% 100 50% 2 0% - - - NULL MYO5A 4644 genome.wustl.edu 37 15 52680040 52680040 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000259.3 -1 reviewed p.L580I 1.000 158 0% 128 43% 2 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5A 4644 genome.wustl.edu 37 15 52700261 52700261 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000259.3 -1 reviewed p.R278Q 0.999 178 0% 76 46.1% 1 0% benign(0.133) tolerated(0.44) neutral(0.024) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5A 4644 genome.wustl.edu 37 15 52718151 52718151 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000259.3 -1 reviewed p.N111H 1.000 140 0% 80 47.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM214A 56204 genome.wustl.edu 37 15 52901753 52901753 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019600.2 -1 validated p.R453Q 0.000 125 0% 95 47.4% 12 41.6% benign(0.015) tolerated(0.25) neutral(0.037) NULL WDR72 256764 genome.wustl.edu 37 15 53994385 53994385 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182758.2 -1 validated p.F505L 1.000 64 0% 85 44.7% 46 52.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR72 256764 genome.wustl.edu 37 15 54005025 54005025 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182758.2 -1 validated p.R219* 0.999 141 0% 97 43.3% 9 0% - - - superfamily_WD40 repeat-like UNC13C 440279 genome.wustl.edu 37 15 54305729 54305729 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080534.1 +1 provisional p.R210I 0.996 66 0% 23 21.7% 0 - probably_damaging(0.998) tolerated(0.14) deleterious(0.724) NULL UNC13C 440279 genome.wustl.edu 37 15 54307034 54307034 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080534.1 +1 provisional p.D645A 1.000 269 0% 50 52% 0 - benign(0.009) tolerated(0.19) neutral(0.050) NULL UNC13C 440279 genome.wustl.edu 37 15 54307906 54307906 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080534.1 +1 provisional p.E936* 1.000 238 0% 72 47.2% 0 - - - - NULL UNC13C 440279 genome.wustl.edu 37 15 54308000 54308000 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080534.1 +1 provisional p.R967I 0.998 219 0.5% 67 41.8% 0 - possibly_damaging(0.856) deleterious(0) deleterious(0.775) NULL UNC13C 440279 genome.wustl.edu 37 15 54308020 54308020 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080534.1 +1 provisional p.E974* 1.000 233 0% 72 37.5% 0 - - - - NULL UNC13C 440279 genome.wustl.edu 37 15 54542603 54542603 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080534.1 +1 provisional p.E1137K 1.000 126 0% 43 53.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 UNC13C 440279 genome.wustl.edu 37 15 54592513 54592513 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080534.1 +1 provisional p.E1404* 1.000 263 0% 111 27% 0 - - - - NULL UNC13C 440279 genome.wustl.edu 37 15 54786813 54786813 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080534.1 +1 provisional p.E1647D 1.000 115 0% 51 47.1% 0 - benign(0.005) tolerated(0.08) neutral(0.300) NULL UNC13C 440279 genome.wustl.edu 37 15 54860039 54860039 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080534.1 +1 provisional p.F2000L 1.000 112 0% 38 15.8% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Membr_traf_MHD RAB27A 5873 genome.wustl.edu 37 15 55526984 55526984 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004580.3 -1 reviewed p.R50I 1.000 266 0% 76 48.7% 20 35% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PIGB 9488 genome.wustl.edu 37 15 55631507 55631507 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004855.4 +1 reviewed p.F279L 1.000 454 0% 497 43.5% 13 61.5% benign(0.338) tolerated(0.48) neutral(0.117) HMMPfam_Glyco_transf_22 CCPG1 9236 genome.wustl.edu 37 15 55651722 55651722 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004748.3 -1 validated p.K750R 0.961 51 0% 67 50.7% 12 75% benign(0.02) tolerated(0.38) neutral(0.019) NULL PRTG 283659 genome.wustl.edu 37 15 55976056 55976056 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173814.4 -1 validated p.K157N 1.000 193 0% 45 33.3% 0 - probably_damaging(0.962) tolerated(0.13) deleterious(0.657) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NEDD4 4734 genome.wustl.edu 37 15 56130751 56130751 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198400.2 -1 validated p.E1042* 0.998 102 0% 195 13.3% 3 0% - - - HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT NEDD4 4734 genome.wustl.edu 37 15 56208732 56208732 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198400.2 -1 validated p.L100I 1.000 135 0% 89 53.9% 0 - unknown(0) deleterious(0.01) - NULL RFX7 64864 genome.wustl.edu 37 15 56386261 56386261 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022841.5 -1 validated p.R1222I 1.000 68 0% 46 41.3% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RFX7 64864 genome.wustl.edu 37 15 56386849 56386849 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022841.5 -1 validated p.F1026C 1.000 125 0% 78 47.4% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RFX7 64864 genome.wustl.edu 37 15 56387708 56387708 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022841.5 -1 validated p.S740G 0.381 202 0% 75 50.7% 7 57.1% benign(0.001) deleterious(0.01) neutral(0.406) NULL RFX7 64864 genome.wustl.edu 37 15 56395777 56395777 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022841.5 -1 validated p.R165C 1.000 93 0% 63 46% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_RFX_DNA_binding,superfamily_""Winged helix"" DNA-binding domain" TEX9 374618 genome.wustl.edu 37 15 56720593 56720593 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198524.1 +1 provisional p.S376F 1.000 190 0% 39 43.6% 21 23.8% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL MNS1 55329 genome.wustl.edu 37 15 56748599 56748599 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018365.2 -1 reviewed p.E116* 1.000 519 0.2% 294 44.2% 7 28.5% - - - NULL ZNF280D 54816 genome.wustl.edu 37 15 56996376 56996376 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017661.2 -1 validated p.D40N 1.000 418 0% 162 42.6% 21 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TCF12 6938 genome.wustl.edu 37 15 57524504 57524504 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207036.1 +1 reviewed p.S234Y 1.000 191 0% 49 36.7% 65 49.2% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL CGNL1 84952 genome.wustl.edu 37 15 57731269 57731269 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032866.3 +1 validated p.E358* 1.000 41 0% 24 41.7% 3 33.3% - - - NULL POLR2M 81488 genome.wustl.edu 37 15 58001541 58001541 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015532.3 +1 reviewed p.K248T 0.992 70 0% 37 59.5% 21 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL AQP9 366 genome.wustl.edu 37 15 58430854 58430854 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020980.3 +1 reviewed p.F30L 1.000 363 0% 78 43.6% 1 0% benign(0.024) tolerated(0.76) neutral(0.002) HMMPfam_MIP,superfamily_Aquaporin-like AQP9 366 genome.wustl.edu 37 15 58467154 58467154 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020980.3 +1 reviewed p.I138 0.034 222 0% 88 50% 0 - - - - HMMPfam_MIP,superfamily_Aquaporin-like ADAM10 102 genome.wustl.edu 37 15 58903261 58903261 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001110.2 -1 reviewed p.T581A 1.000 202 0% 162 37% 69 39.1% benign(0.234) tolerated(0.31) neutral(0.051) NULL HSP90AB4P 664618 genome.wustl.edu 37 15 58983391 58983391 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000380522 -1 known p.E477K 1.000 73 0% 29 41.4% 1 100% - - - HMMPfam_HSP90,superfamily_SSF110942 SLTM 79811 genome.wustl.edu 37 15 59186051 59186051 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024755.2 -1 validated p.S539 0.000 377 0.3% 305 42.6% 55 38.1% - - - NULL RNF111 54778 genome.wustl.edu 37 15 59323277 59323277 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017610.6 +1 reviewed p.E86* 1.000 170 0% 151 41.1% 8 50% - - - NULL CCNB2 9133 genome.wustl.edu 37 15 59399591 59399591 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004701.2 +1 reviewed p.R32Q 0.846 51 0% 149 46.3% 66 57.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO1E 4643 genome.wustl.edu 37 15 59464114 59464114 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004998.2 -1 validated p.I821T 0.998 165 0% 80 46.3% 59 55.9% possibly_damaging(0.743) deleterious(0) deleterious(0.717) HMMPfam_Myosin_TH1 MYO1E 4643 genome.wustl.edu 37 15 59500924 59500924 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004998.2 -1 validated p.N496D 1.000 233 0% 63 50.8% 28 53.5% possibly_damaging(0.671) tolerated(0.63) neutral(0.241) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1E 4643 genome.wustl.edu 37 15 59510099 59510099 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004998.2 -1 validated p.F366 1.000 151 0% 66 54.5% 16 50% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases GCNT3 9245 genome.wustl.edu 37 15 59911407 59911407 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004751.2 +1 reviewed p.D324Y 1.000 70 0% 55 41.8% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Branch FOXB1 27023 genome.wustl.edu 37 15 60297458 60297458 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012182.2 +1 validated p.N99I 1.000 33 0% 13 61.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 VPS13C 54832 genome.wustl.edu 37 15 62217669 62217669 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020821.1 -1 validated p.E2199* 1.000 46 0% 73 42.5% 1 0% - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62270908 62270908 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020821.1 -1 validated p.S736* 1.000 384 0% 190 18.4% 2 0% - - - NULL TLN2 83660 genome.wustl.edu 37 15 62948248 62948248 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015059.2 +1 reviewed p.S208L 1.000 108 0% 70 50% 0 - 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 63008650 63008650 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015059.2 +1 reviewed p.R919* 1.000 27 0% 31 38.7% 1 0% - - - superfamily_SSF109885 TLN2 83660 genome.wustl.edu 37 15 63111780 63111780 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015059.2 +1 reviewed p.G2279 0.000 85 0% 46 50% 2 50% - - - NULL LACTB 114294 genome.wustl.edu 37 15 63433504 63433504 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032857.2 +1 reviewed p.R382C 1.000 201 0% 157 45.2% 6 33.3% possibly_damaging(0.753) tolerated(0.1) deleterious(0.563) HMMPfam_Beta-lactamase,superfamily_beta-lactamase/transpeptidase-like LACTB 114294 genome.wustl.edu 37 15 63433648 63433648 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032857.2 +1 reviewed p.L430I 1.000 228 0% 139 39.6% 6 16.6% benign(0.143) tolerated(0.22) neutral(0.055) HMMPfam_Beta-lactamase,superfamily_beta-lactamase/transpeptidase-like CA12 771 genome.wustl.edu 37 15 63618508 63618508 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001218.3 -1 reviewed p.K347 1.000 189 0% 125 41.6% 27 51.8% - - - NULL HERC1 8925 genome.wustl.edu 37 15 63932614 63932614 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003922.3 -1 reviewed p.H3880N 1.000 173 0% 42 47.6% 11 72.7% possibly_damaging(0.891) - - NULL HERC1 8925 genome.wustl.edu 37 15 64067038 64067038 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003922.3 -1 reviewed p.R262Q 0.998 147 0% 92 35.9% 3 0% unknown(0) tolerated(0.28) - NULL SNX1 6642 genome.wustl.edu 37 15 64429083 64429083 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003099.3 +1 reviewed p.K490N 0.982 94 0% 113 50.4% 154 31.8% possibly_damaging(0.642) tolerated(0.09) deleterious(0.521) HMMPfam_Vps5 SNX22 79856 genome.wustl.edu 37 15 64446601 64446601 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024798.2 +1 validated p.V159A 0.887 42 0% 27 33.3% 0 - benign(0.009) tolerated(0.12) neutral(0.261) NULL CSNK1G1 53944 genome.wustl.edu 37 15 64495340 64495340 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022048.3 -1 validated p.T350P 1.000 307 0% 154 38.3% 12 41.6% benign(0.062) tolerated(0.3) neutral(0.033) NULL ZNF609 23060 genome.wustl.edu 37 15 64967597 64967597 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015042.1 +1 provisional p.I848 0.997 52 0% 59 39% 5 40% - - - NULL SPG21 51324 genome.wustl.edu 37 15 65262520 65262520 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127889.1 -1 reviewed p.L165I 1.000 74 0% 100 36% 96 54.1% possibly_damaging(0.531) tolerated(0.06) deleterious(0.502) superfamily_SSF53474 CLPX 10845 genome.wustl.edu 37 15 65447302 65447302 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006660.3 -1 provisional p.R477W 0.997 196 0% 93 44.1% 44 47.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AAA_2,superfamily_P-loop containing nucleoside triphosphate hydrolases DPP8 54878 genome.wustl.edu 37 15 65743441 65743441 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_197960.2 -1 reviewed p.R824C 1.000 79 0% 82 42.7% 11 54.5% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases PTPLAD1 51495 genome.wustl.edu 37 15 65864667 65864667 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016395.2 +1 validated p.S325 0.973 214 0% 172 39% 27 7.4% - - - HMMPfam_PTPLA PTPLAD1 51495 genome.wustl.edu 37 15 65868705 65868705 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016395.2 +1 validated p.K359N 1.000 95 0% 91 51.6% 32 9.3% unknown(0) tolerated(0.27) - NULL C15orf44 81556 genome.wustl.edu 37 15 65874335 65874335 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030800.1 -1 predicted p.R421I 1.000 347 0% 259 40.9% 44 43.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC24A1 9187 genome.wustl.edu 37 15 65917243 65917243 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004727.2 +1 validated p.V275 0.000 50 0% 73 24.7% 2 0% - - - NULL SLC24A1 9187 genome.wustl.edu 37 15 65942932 65942932 + Silent SNP C C T rs185027365 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004727.2 +1 validated p.H815 0.001 340 0% 184 43.5% 9 44.4% - - - NULL DENND4A 10260 genome.wustl.edu 37 15 65983601 65983601 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144823.1 -1 validated p.L1110I 1.000 89 0% 88 48.9% 2 100% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL DENND4A 10260 genome.wustl.edu 37 15 66030239 66030239 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144823.1 -1 validated p.E282D 1.000 88 0% 70 45.7% 2 50% benign(0.011) tolerated(0.26) neutral(0.035) NULL DENND4A 10260 genome.wustl.edu 37 15 66044862 66044862 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144823.1 -1 validated p.R139I 1.000 232 0% 89 39.3% 2 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL MEGF11 84465 genome.wustl.edu 37 15 66273231 66273231 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032445.2 -1 validated p.E216G 1.000 23 0.000 5 0.800 0 - benign(0.012) tolerated(0.18) neutral(0.057) HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,PatternScan_EGF_2 DIS3L 115752 genome.wustl.edu 37 15 66606430 66606430 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133375.3 +1 validated p.L180 0.893 237 0% 99 34.3% 13 15.3% - - - NULL DIS3L 115752 genome.wustl.edu 37 15 66607510 66607510 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133375.3 +1 validated p.D234 0.003 234 0% 52 38.5% 16 68.7% - - - NULL RPL4 6124 genome.wustl.edu 37 15 66791860 66791860 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000968.2 -1 reviewed p.K390T 0.730 200 0% 213 45.1% 3074 49.5% unknown(0) tolerated(0.06) - NULL AAGAB 79719 genome.wustl.edu 37 15 67529104 67529104 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024666.3 -1 validated p.R43I 0.829 259 0% 111 45% 38 42.1% benign(0.004) tolerated(0.34) neutral(0.023) NULL GLCE 26035 genome.wustl.edu 37 15 69561164 69561164 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015554.1 +1 validated p.F479V 1.000 51 0% 34 38.2% 17 35.2% benign(0) tolerated(0.88) - HMMPfam_C5-epim_C KIF23 9493 genome.wustl.edu 37 15 69714463 69714463 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138555.1 +1 reviewed p.R150Q 1.000 107 0% 107 47.7% 16 37.5% possibly_damaging(0.921) tolerated(0.08) deleterious(0.671) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000245184 0 genome.wustl.edu 37 15 69745899 69745899 + RNA SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000501805 -1 novel NULL 0.000 213 0% 185 47.6% 0 - - - - - ENSG00000245184 0 genome.wustl.edu 37 15 69746259 69746259 + RNA SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000501805 -1 novel NULL 0.001 41 0% 60 55% 0 - - - - - MYO9A 4649 genome.wustl.edu 37 15 72190522 72190522 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006901.2 -1 validated p.R1441I 0.997 153 0% 77 11.7% 2 50% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL PARP6 56965 genome.wustl.edu 37 15 72554016 72554016 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020214.2 -1 provisional p.K143T 1.000 322 0% 95 41.1% 49 38.7% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) NULL TMEM202 338949 genome.wustl.edu 37 15 72691082 72691082 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080462.1 +1 provisional p.R57Q 0.930 56 0% 52 46.2% 0 - probably_damaging(0.958) tolerated(0.21) neutral(0.446) NULL NEO1 4756 genome.wustl.edu 37 15 73547064 73547064 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002499.3 +1 validated p.Q662H 0.998 85 0% 22 54.5% 31 64.5% benign(0) tolerated(0.16) neutral(0.059) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NEO1 4756 genome.wustl.edu 37 15 73590734 73590734 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002499.3 +1 validated p.S1316L 1.000 104 0% 60 15% 41 9.7% benign(0.291) tolerated(0.22) neutral(0.132) HMMPfam_Neogenin_C HCN4 10021 genome.wustl.edu 37 15 73614974 73614974 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005477.2 -1 reviewed p.R1154W 1.000 9 0.000 19 0.632 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HCN4 10021 genome.wustl.edu 37 15 73659853 73659853 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005477.2 -1 reviewed p.W253C 1.000 20 0% 25 56% 0 - possibly_damaging(0.816) deleterious(0) deleterious(0.753) HMMPfam_Ion_trans_N C15orf60 283677 genome.wustl.edu 37 15 73766242 73766242 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042367.1 +1 predicted p.F77V 1.000 543 0% 190 41.1% 0 - benign(0.032) tolerated(0.46) neutral(0.013) NULL NPTN 27020 genome.wustl.edu 37 15 73889625 73889625 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012428.3 -1 reviewed p.T59 0.998 140 0% 22 27.3% 1 0% - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 C15orf59 388135 genome.wustl.edu 37 15 74043396 74043396 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039614.1 -1 predicted p.R26* 1.000 24 0% 20 55% 5 20% - - - NULL LOXL1 4016 genome.wustl.edu 37 15 74238789 74238789 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005576.2 +1 reviewed p.D415N 0.987 26 0% 12 33.3% 74 35.1% possibly_damaging(0.949) deleterious(0.02) deleterious(0.776) HMMPfam_Lysyl_oxidase CLK3 1198 genome.wustl.edu 37 15 74920958 74920958 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130028.1 +1 reviewed p.R528Q 1.000 118 0% 84 38.1% 78 42.3% probably_damaging(0.988) deleterious(0.04) deleterious(0.786) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CYP1A2 1544 genome.wustl.edu 37 15 75042497 75042497 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000761.3 +1 reviewed p.A140S 1.000 98 0% 28 39.3% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_p450,superfamily_Cytochrome_P450 LOC646791 646791 genome.wustl.edu 37 15 75614157 75614157 + RNA SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_017650.3 -1 model NULL 0.193 345 0% 368 49.2% 0 - - - - - LOC646791 646791 genome.wustl.edu 37 15 75614514 75614514 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_017650.3 -1 model NULL 0.998 123 0% 241 43.6% 2 0% - - - - MAN2C1 4123 genome.wustl.edu 37 15 75656407 75656407 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006715.2 -1 validated p.F241L 1.000 75 0% 26 50% 12 33.3% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) NULL SIN3A 25942 genome.wustl.edu 37 15 75688742 75688742 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145357.1 -1 reviewed p.K650N 0.998 98 0% 62 46.8% 35 48.5% possibly_damaging(0.783) deleterious(0.01) deleterious(0.699) HMMPfam_HDAC_interact,HMMSmart_HDAC_interact SCAPER 49855 genome.wustl.edu 37 15 76763674 76763674 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020843.2 -1 validated p.S985Y 1.000 125 0% 46 41.3% 8 12.5% possibly_damaging(0.737) deleterious(0.03) deleterious(0.634) NULL SCAPER 49855 genome.wustl.edu 37 15 77025597 77025597 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020843.2 -1 validated p.E664D 0.997 408 0% 98 44.9% 7 85.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TSPAN3 10099 genome.wustl.edu 37 15 77346537 77346537 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005724.5 -1 reviewed p.D139Y 1.000 126 0% 96 32.3% 270 41.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tetraspanin,HMMPfam_Tetraspannin LINGO1 84894 genome.wustl.edu 37 15 77906464 77906464 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032808.5 -1 validated p.I595 0.679 103 0% 55 50.9% 46 34.7% - - - NULL DNAJA4 55466 genome.wustl.edu 37 15 78562883 78562883 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018602.3 +1 validated p.K88N 1.000 127 0% 108 46.3% 8 37.5% possibly_damaging(0.522) deleterious(0.02) deleterious(0.559) HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N,PatternScan_DNAJ_1 IREB2 3658 genome.wustl.edu 37 15 78790409 78790409 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004136.2 +1 validated p.S939L 0.262 196 0% 151 41.1% 37 56.7% benign(0) deleterious(0.02) neutral(0.383) superfamily_Aconitase CHRNA5 1138 genome.wustl.edu 37 15 78882800 78882800 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000745.2 +1 provisional p.F356C 1.000 251 0% 88 43.2% 10 20% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM CHRNB4 1143 genome.wustl.edu 37 15 78921974 78921974 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000750.3 -1 validated p.D225N 0.998 830 0% 216 45.4% 0 - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD RASGRF1 5923 genome.wustl.edu 37 15 79327525 79327525 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002891.4 -1 reviewed p.I302 1.000 21 0% 28 17.9% 0 - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) KIAA1024 23251 genome.wustl.edu 37 15 79749276 79749276 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015206.2 +1 validated p.D263N 1.000 102 0% 66 42.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KIAA1199 57214 genome.wustl.edu 37 15 81201518 81201518 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018689.1 +1 validated p.P556 0.021 287 0% 72 44.4% 6 33.3% - - - NULL IL16 3603 genome.wustl.edu 37 15 81589280 81589280 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172217.3 +1 reviewed p.E638 0.982 38 0% 21 42.9% 0 - - - - NULL IL16 3603 genome.wustl.edu 37 15 81592192 81592192 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172217.3 +1 reviewed p.R842I 1.000 20 0% 17 52.9% 3 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FAM154B 283726 genome.wustl.edu 37 15 82574462 82574462 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008226.1 +1 predicted p.D86N 1.000 86 0% 74 31.1% 0 - probably_damaging(0.969) deleterious(0) deleterious(0.856) NULL CPEB1 64506 genome.wustl.edu 37 15 83296006 83296006 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030594.3 -1 reviewed p.S43Y 1.000 168 0% 95 13.7% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL AP3B2 8120 genome.wustl.edu 37 15 83331940 83331940 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004644.3 -1 validated p.S829F 1.000 52 0% 27 25.9% 0 - unknown(0) deleterious(0.01) - NULL AP3B2 8120 genome.wustl.edu 37 15 83346079 83346079 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004644.3 -1 validated p.A479S 0.867 175 0% 127 45.7% 0 - benign(0.002) tolerated(0.34) neutral(0.023) HMMPfam_Adaptin_N,superfamily_ARM-type_fold AP3B2 8120 genome.wustl.edu 37 15 83346101 83346101 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004644.3 -1 validated p.K471N 1.000 183 0% 133 46.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Adaptin_N,superfamily_ARM-type_fold FSD2 123722 genome.wustl.edu 37 15 83456087 83456087 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007122.2 -1 provisional p.F19C 0.988 140 0% 119 35.3% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL FAM103A1 83640 genome.wustl.edu 37 15 83657925 83657925 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031452.2 +1 predicted p.R52I 1.000 32 0% 61 52.5% 36 41.6% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL BNC1 646 genome.wustl.edu 37 15 83933259 83933259 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001717.3 -1 reviewed p.F248L 1.000 113 0% 75 40% 0 - benign(0.001) tolerated(0.37) neutral(0.019) NULL SH3GL3 6457 genome.wustl.edu 37 15 84233922 84233922 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003027.3 +1 validated p.L51I 1.000 129 0% 122 51.6% 0 - benign(0.002) tolerated(0.56) neutral(0.006) HMMPfam_BAR,HMMSmart_SM00721 AKAP13 11214 genome.wustl.edu 37 15 86076892 86076892 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006738.4 +1 reviewed p.E87* 1.000 274 0% 100 36% 1 0% - - - NULL AKAP13 11214 genome.wustl.edu 37 15 86123532 86123532 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006738.4 +1 reviewed p.D745Y 0.023 68 0% 42 47.6% 6 66.6% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) NULL AKAP13 11214 genome.wustl.edu 37 15 86123680 86123680 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006738.4 +1 reviewed p.E794A 1.000 124 0% 49 55.1% 4 75% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL AGBL1 123624 genome.wustl.edu 37 15 87217590 87217590 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152336.2 +1 validated p.S1002 0.877 120 0.000 8 0.750 0 - - - - NULL NTRK3 4916 genome.wustl.edu 37 15 88726711 88726711 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012338.1 -1 reviewed p.K111N 1.000 162 0% 57 54.4% 0 - benign(0.261) tolerated(0.09) neutral(0.324) superfamily_L domain-like RLBP1 6017 genome.wustl.edu 37 15 89760549 89760549 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000326.4 -1 reviewed p.D50Y 1.000 71 0% 47 40.4% 0 - benign(0.426) deleterious(0.04) deleterious(0.487) HMMPfam_CRAL_TRIO_N,superfamily_CRAL/TRIO N-terminal domain FANCI 55215 genome.wustl.edu 37 15 89790915 89790915 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113378.1 +1 reviewed p.T13S 0.921 199 0% 199 47.7% 13 30.7% benign(0.003) tolerated(0.78) neutral(0.001) NULL WDR93 56964 genome.wustl.edu 37 15 90258240 90258240 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020212.1 +1 provisional p.K224Q 0.992 225 0% 126 50% 0 - probably_damaging(0.978) deleterious(0.04) deleterious(0.769) NULL WDR93 56964 genome.wustl.edu 37 15 90281329 90281329 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020212.1 +1 provisional p.F608S 0.823 159 0% 128 43% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BLM 641 genome.wustl.edu 37 15 91326080 91326080 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000057.2 +1 reviewed p.L862 1.000 122 0% 143 46.2% 6 50% - - - HMMSmart_DEXDc,superfamily_SSF52540 MAN2A2 4122 genome.wustl.edu 37 15 91448699 91448699 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006122.2 +1 validated p.Q117H 1.000 16 0% 44 54.5% 9 88.8% possibly_damaging(0.543) tolerated(0.13) neutral(0.436) superfamily_Glyco_hydro/deAcase_b/a-brl SV2B 9899 genome.wustl.edu 37 15 91811726 91811726 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014848.4 +1 validated p.E422* 1.000 237 0% 100 45% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLCO3A1 28232 genome.wustl.edu 37 15 92647678 92647678 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013272.3 +1 validated p.S305 0.341 174 0% 155 49.7% 6 33.3% - - - HMMPfam_OATP,superfamily_MFS general substrate transporter CHD2 1106 genome.wustl.edu 37 15 93552396 93552396 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001271.3 +1 reviewed p.V1479L 1.000 142 0% 54 46.3% 19 63.1% possibly_damaging(0.666) deleterious(0.01) deleterious(0.641) superfamily_P-loop containing nucleoside triphosphate hydrolases MCTP2 55784 genome.wustl.edu 37 15 94841798 94841798 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018349.3 +1 validated p.E102* 0.515 46 0% 34 47.1% 0 - - - - NULL SPATA8 145946 genome.wustl.edu 37 15 97327485 97327485 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173499.3 +1 provisional p.K64N 0.014 64 0% 29 44.8% 0 - unknown(0) - - NULL ARRDC4 91947 genome.wustl.edu 37 15 98512368 98512368 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183376.2 +1 validated p.I214S 1.000 31 0% 23 60.9% 16 56.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Arrestin_C,superfamily_E set domains FAM169B 283777 genome.wustl.edu 37 15 98982946 98982946 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182562.2 -1 validated p.K165E 0.002 475 0% 138 39.1% 0 - possibly_damaging(0.936) tolerated(0.24) neutral(0.419) NULL IGF1R 3480 genome.wustl.edu 37 15 99434850 99434850 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000875.3 +1 reviewed p.R313C 1.000 56 0.000 8 0.625 13 38.4% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Furin-like,superfamily_Grow_fac_recept IGF1R 3480 genome.wustl.edu 37 15 99442815 99442815 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000875.3 +1 reviewed p.N404 1.000 223 0% 70 35.7% 14 42.8% - - - HMMPfam_Recep_L_domain,superfamily_SSF52058 SYNM 23336 genome.wustl.edu 37 15 99670115 99670115 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000336292 +1 known p.R516Q 0.000 46 0% 103 43.7% 0 - benign(0.027) tolerated(0.74) neutral(0.003) NULL SYNM 23336 genome.wustl.edu 37 15 99670505 99670505 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000336292 +1 known p.L646R 0.985 101 0% 96 50% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SYNM 23336 genome.wustl.edu 37 15 99670953 99670953 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145728.2 +1 reviewed p.H796R 0.000 61 0% 73 43.8% 1 0% - - - NULL SYNM 23336 genome.wustl.edu 37 15 99672479 99672479 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000336292 +1 known p.S1304N 0.000 89 0% 53 28.3% 1 0% benign(0.102) deleterious(0) neutral(0.453) NULL CERS3 204219 genome.wustl.edu 37 15 101031058 101031058 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178842.3 -1 validated p.E84D 1.000 173 0% 112 47.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like LINS 55180 genome.wustl.edu 37 15 101112155 101112155 + Missense_Mutation SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040614.1 -1 reviewed p.D446E 0.647 134 0% 58 36.2% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRK1 79705 genome.wustl.edu 37 15 101550769 101550769 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024652.3 +1 validated p.F368 0.930 164 0% 234 48.3% 3 33.3% - - - superfamily_L domain-like CHSY1 22856 genome.wustl.edu 37 15 101718111 101718111 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000254190 -1 known p.D631N 1.000 48 0% 58 50% 43 30.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CHGN,superfamily_SSF53448 TARSL2 123283 genome.wustl.edu 37 15 102242519 102242519 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152334.2 -1 validated p.P382T 1.000 294 0% 254 41.3% 6 66.6% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_ThrRS/AlaRS common domain LOC100128108 100128108 genome.wustl.edu 37 15 102277445 102277445 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001721901.2 -1 model p.S87Y 0.076 9 0.000 10 0.400 0 - - - - NULL LUC7L 55692 genome.wustl.edu 37 16 270668 270668 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201412.1 -1 validated p.D79Y 1.000 63 0% 175 44% 62 56.4% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_LUC7 PRR25 388199 genome.wustl.edu 37 16 855731 855731 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013638.1 +1 provisional p.A97T 0.073 4 0.000 20 0.600 0 - unknown(0) - - NULL CACNA1H 8912 genome.wustl.edu 37 16 1250544 1250544 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021098.2 +1 reviewed p.I364 0.939 6 0.000 43 0.419 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1H 8912 genome.wustl.edu 37 16 1265065 1265065 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021098.2 +1 reviewed p.R1675W 0.739 48 0% 200 52% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels IFT140 9742 genome.wustl.edu 37 16 1630771 1630771 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014714.3 -1 validated p.R505* 1.000 37 0% 81 46.9% 12 50% - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase CRAMP1L 57585 genome.wustl.edu 37 16 1715080 1715080 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020825.3 +1 validated p.S898L 0.996 148 0% 232 54.3% 9 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL AMDHD2 51005 genome.wustl.edu 37 16 2580428 2580428 + Nonsense_Mutation SNP C C T rs141294706 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000413459 +1 known p.R485* 0.000 16 0% 57 47.4% 7 71.4% - - - NULL SRRM2 23524 genome.wustl.edu 37 16 2811602 2811602 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016333.3 +1 validated p.S358N 1.000 255 0% 72 56.9% 74 51.3% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2812688 2812688 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016333.3 +1 validated p.R720I 1.000 120 0% 49 44.9% 65 38.4% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2813978 2813978 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016333.3 +1 validated p.S1150L 0.953 93 0% 86 38.4% 100 44% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2816255 2816255 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016333.3 +1 validated p.R1909Q 0.876 94 0% 25 60% 251 40.6% unknown(0) - - NULL ZNF200 7752 genome.wustl.edu 37 16 3274113 3274113 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003454.3 -1 validated p.R323W 1.000 75 0% 170 48.8% 7 42.8% 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 TIGD7 91151 genome.wustl.edu 37 16 3350043 3350043 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033208.2 -1 validated p.S191Y 0.552 125 0% 198 40.4% 26 61.5% benign(0.008) tolerated(0.11) neutral(0.272) HMMPfam_DDE NAA60 79903 genome.wustl.edu 37 16 3533527 3533527 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083600.1 +1 validated p.R168* 1.000 148 0% 231 49.4% 76 51.3% - - - superfamily_Acyl_CoA_acyltransferase CLUAP1 23059 genome.wustl.edu 37 16 3556381 3556381 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015041.1 +1 provisional p.R62L 1.000 144 0% 177 38.4% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cluap1 CREBBP 1387 genome.wustl.edu 37 16 3831269 3831269 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004380.2 -1 reviewed p.T538P 0.998 282 0% 208 43.8% 12 25% probably_damaging(0.998) tolerated(0.29) deleterious(0.503) NULL ADCY9 115 genome.wustl.edu 37 16 4024709 4024709 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001116.2 -1 reviewed p.S944F 1.000 75 0% 122 41% 2 0% benign(0.001) tolerated(0.33) neutral(0.024) NULL ADCY9 115 genome.wustl.edu 37 16 4057481 4057481 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001116.2 -1 reviewed p.F591S 0.996 73 0% 47 59.6% 0 - benign(0.026) tolerated(0.57) neutral(0.007) NULL CORO7 79585 genome.wustl.edu 37 16 4408101 4408101 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024535.3 -1 validated p.E821* 1.000 20 0% 20 65% 28 17.8% - - - HMMPfam_DUF1900 C16orf5 29965 genome.wustl.edu 37 16 4562821 4562821 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013399.2 -1 validated p.F162 0.795 51 0% 41 46.3% 18 61.1% - - - HMMSmart_SM00714,HMMPfam_zf-LITAF-like LOC342346 342346 genome.wustl.edu 37 16 4630036 4630036 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145011.1 +1 predicted p.I754M 0.678 41 0% 73 52.1% 0 - benign(0.229) deleterious(0.02) neutral(0.406) NULL RBFOX1 54715 genome.wustl.edu 37 16 7383034 7383034 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145891.2 +1 reviewed p.P11H 1.000 477 0% 40 40% 0 - possibly_damaging(0.596) deleterious(0) deleterious(0.650) NULL RBFOX1 54715 genome.wustl.edu 37 16 7760682 7760682 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145891.2 +1 reviewed p.L398I 1.000 478 0% 130 41.5% 0 - benign(0.388) tolerated(0.25) neutral(0.161) NULL RBFOX1 54715 genome.wustl.edu 37 16 7760745 7760745 + Nonstop_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145891.2 +1 reviewed p.*419Q 1.000 340 0% 105 49.5% 0 - - - - NULL USP7 7874 genome.wustl.edu 37 16 8988460 8988460 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003470.2 -1 validated p.Y1050C 1.000 88 0% 165 35.8% 155 47.7% probably_damaging(0.978) tolerated(0.12) deleterious(0.681) NULL GRIN2A 2903 genome.wustl.edu 37 16 9862740 9862740 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000833.3 -1 reviewed p.D855N 1.000 128 0% 24 37.5% 0 - possibly_damaging(0.527) tolerated(0.13) neutral(0.430) HMMPfam_NMDAR2_C NUBP1 4682 genome.wustl.edu 37 16 10851782 10851782 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002484.2 +1 validated p.L168 0.997 68 0% 52 46.2% 35 42.8% - - - PatternScan_MRP,HMMSmart_SM00382,HMMPfam_ParA,superfamily_P-loop containing nucleoside triphosphate hydrolases CIITA 4261 genome.wustl.edu 37 16 11001528 11001528 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000246.3 +1 reviewed p.E727K 0.091 87 0% 25 52% 1 0% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) NULL TXNDC11 51061 genome.wustl.edu 37 16 11824588 11824588 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015914.5 -1 provisional p.Y204* 1.000 123 0.8% 141 43.3% 13 0% - - - superfamily_Thiordxn-like_fd TXNDC11 51061 genome.wustl.edu 37 16 11827841 11827841 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015914.5 -1 provisional p.R189Q 1.000 78 0% 142 41.5% 16 6.2% benign(0.04) tolerated(0.55) neutral(0.009) superfamily_Thiordxn-like_fd TXNDC11 51061 genome.wustl.edu 37 16 11827887 11827887 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015914.5 -1 provisional p.K174E 1.000 107 0% 159 41.5% 14 64.2% possibly_damaging(0.676) tolerated(0.13) deleterious(0.493) superfamily_Thiordxn-like_fd TNFRSF17 608 genome.wustl.edu 37 16 12061683 12061683 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001192.2 +1 reviewed p.E178 0.002 81 0% 49 36.7% 3 0% - - - NULL ERCC4 2072 genome.wustl.edu 37 16 14016034 14016034 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005236.2 +1 reviewed p.F118L 1.000 86 0% 35 37.1% 0 - benign(0.044) tolerated(1) neutral(0.003) NULL BFAR 51283 genome.wustl.edu 37 16 14758871 14758871 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016561.2 +1 validated p.L368S 0.999 255 0% 195 41% 35 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NOMO1 23420 genome.wustl.edu 37 16 14989879 14989879 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000456867 +1 known p.R1239W 0.000 171 0% 439 18.9% 100 31% unknown(0) deleterious(0) - NULL NTAN1 123803 genome.wustl.edu 37 16 15132508 15132508 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173474.2 -1 provisional p.R226C 0.573 124 0% 122 41% 76 46% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KIAA0430 9665 genome.wustl.edu 37 16 15705588 15705588 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014647.3 -1 validated p.L1160I 1.000 168 0% 93 10.8% 7 28.5% benign(0.307) tolerated(0.11) neutral(0.367) NULL KIAA0430 9665 genome.wustl.edu 37 16 15711345 15711345 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014647.3 -1 validated p.T923M 0.849 152 0% 36 47.2% 5 100% benign(0.431) tolerated(0.17) neutral(0.200) NULL MYH11 4629 genome.wustl.edu 37 16 15813550 15813550 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040114.1 -1 reviewed p.Q1665H 1.000 392 0% 109 37.6% 4 0% probably_damaging(0.993) tolerated(0.11) deleterious(0.722) HMMPfam_Myosin_tail_1 MYH11 4629 genome.wustl.edu 37 16 15814759 15814759 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040114.1 -1 reviewed p.F1583 0.630 300 0% 63 54% 6 0% - - - HMMPfam_Myosin_tail_1 MYH11 4629 genome.wustl.edu 37 16 15826559 15826559 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040114.1 -1 reviewed p.K1178 1.000 192 0% 88 46.6% 17 23.5% - - - HMMPfam_Myosin_tail_1 FOPNL 123811 genome.wustl.edu 37 16 15977918 15977918 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144600.2 -1 provisional p.R58Q 1.000 137 0% 153 12.4% 18 22.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_LisH XYLT1 64131 genome.wustl.edu 37 16 17202767 17202767 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022166.3 -1 reviewed p.E889K 1.000 69 0% 25 32% 1 0% benign(0.088) tolerated(0.05) neutral(0.352) NULL XYLT1 64131 genome.wustl.edu 37 16 17211526 17211526 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022166.3 -1 reviewed p.S845L 0.986 212 0% 52 46.2% 0 - benign(0.362) tolerated(0.65) neutral(0.118) NULL NOMO2 283820 genome.wustl.edu 37 16 18544337 18544337 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004060.1 -1 reviewed p.Y462C 1.000 1227 0% 445 24.5% 74 14.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SMG1 23049 genome.wustl.edu 37 16 18826960 18826960 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015092.4 -1 reviewed p.A3439V 1.000 178 0% 115 47% 19 47.3% probably_damaging(0.957) tolerated(0.3) neutral(0.429) NULL SMG1 23049 genome.wustl.edu 37 16 18840904 18840904 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015092.4 -1 reviewed p.G3103R 0.999 139 0.7% 59 20.3% 12 25% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SMG1 23049 genome.wustl.edu 37 16 18844477 18844477 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015092.4 -1 reviewed p.S2859 0.996 143 0% 68 45.6% 17 64.7% - - - NULL SMG1 23049 genome.wustl.edu 37 16 18866192 18866192 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015092.4 -1 reviewed p.E1423D 1.000 415 0% 125 46.4% 7 57.1% possibly_damaging(0.653) tolerated(0.38) neutral(0.247) superfamily_ARM repeat TMC5 79838 genome.wustl.edu 37 16 19483436 19483436 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105248.1 +1 validated p.E603D 1.000 133 0% 53 47.2% 2 50% benign(0.015) tolerated(0.41) neutral(0.015) NULL TMC5 79838 genome.wustl.edu 37 16 19503514 19503514 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105248.1 +1 validated p.K930 1.000 218 0% 242 38.8% 4 50% - - - NULL GPR139 124274 genome.wustl.edu 37 16 20043505 20043505 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002911.2 -1 validated p.I205S 1.000 99 0% 49 46.9% 0 - benign(0.177) tolerated(0.13) neutral(0.269) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR139 124274 genome.wustl.edu 37 16 20043735 20043735 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002911.2 -1 validated p.I128 0.932 151 0% 78 39.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GP2 2813 genome.wustl.edu 37 16 20331754 20331754 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007240.1 -1 validated p.E233* 0.787 147 0% 33 42.4% 0 - - - - HMMPfam_Zona_pellucida,HMMSmart_SM00241 PDILT 204474 genome.wustl.edu 37 16 20387497 20387497 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174924.1 -1 provisional p.V146I 0.932 259 0% 63 50.8% 0 - possibly_damaging(0.94) tolerated(0.19) neutral(0.434) superfamily_Thiordxn-like_fd ACSM5 54988 genome.wustl.edu 37 16 20448410 20448410 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017888.2 +1 validated p.D449N 1.000 173 0% 94 27.7% 0 - benign(0.071) tolerated(0.31) neutral(0.032) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2A 123876 genome.wustl.edu 37 16 20477000 20477000 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010845.2 +1 validated p.L113 0.989 446 0% 80 48.7% 0 - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2B 348158 genome.wustl.edu 37 16 20565110 20565110 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105069.1 -1 validated p.K243N 0.991 227 0% 20 45% 1 0% benign(0.059) tolerated(0.46) neutral(0.016) 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-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105069.1 -1 validated p.K195N 0.019 403 0% 118 47.5% 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 20648104 20648104 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052956.2 -1 validated p.R419I 1.000 269 0% 36 47.2% 1 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM1 116285 genome.wustl.edu 37 16 20673143 20673143 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052956.2 -1 validated p.R322L 1.000 165 0% 51 43.1% 1 100% possibly_damaging(0.866) deleterious(0) deleterious(0.780) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like THUMPD1 55623 genome.wustl.edu 37 16 20750238 20750238 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017736.3 -1 validated p.F129L 1.000 276 0% 148 42.6% 8 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ACSM3 6296 genome.wustl.edu 37 16 20787204 20787204 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005622.3 +1 validated p.R88I 0.008 155 0% 102 33.3% 29 41.3% benign(0.002) tolerated(0.15) neutral(0.241) superfamily_Acetyl-CoA synthetase-like ERI2 112479 genome.wustl.edu 37 16 20809211 20809211 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142725.1 -1 validated p.F637L 1.000 135 0.7% 115 48.7% 19 36.8% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_zf-GRF LOC81691 81691 genome.wustl.edu 37 16 20856135 20856135 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030941.2 +1 validated p.K635T 0.401 81 0% 51 52.9% 3 100% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMSmart_SM00360,superfamily_RNA-binding domain RBD DNAH3 55567 genome.wustl.edu 37 16 20946732 20946732 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017539.1 -1 provisional p.V3979I 0.988 82 0% 110 54.5% 0 - benign(0.007) tolerated(0.21) neutral(0.044) HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 20986639 20986639 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017539.1 -1 provisional p.T2725 0.000 313 0% 217 52.5% 1 100% - - - NULL DNAH3 55567 genome.wustl.edu 37 16 20998661 20998661 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017539.1 -1 provisional p.T2331I 0.998 210 0% 175 39.4% 1 0% possibly_damaging(0.61) tolerated(0.51) neutral(0.221) NULL DNAH3 55567 genome.wustl.edu 37 16 21060952 21060952 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017539.1 -1 provisional p.F1467V 1.000 252 0% 80 45% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21080894 21080894 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017539.1 -1 provisional p.R1075C 0.001 237 0% 84 46.4% 0 - possibly_damaging(0.66) tolerated(0.1) deleterious(0.519) HMMPfam_DHC_N2 DNAH3 55567 genome.wustl.edu 37 16 21136606 21136606 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017539.1 -1 provisional p.R432* 0.013 106 0% 74 51.4% 2 0% - - - NULL ZP2 7783 genome.wustl.edu 37 16 21217065 21217065 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003460.1 -1 reviewed p.A172D 0.865 286 0% 125 45.6% 0 - benign(0.013) tolerated(0.3) neutral(0.029) NULL PDZD9 255762 genome.wustl.edu 37 16 22000059 22000059 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173806.3 -1 validated p.E27* 1.000 130 0% 77 48.1% 0 - - - - NULL VWA3A 146177 genome.wustl.edu 37 16 22128491 22128491 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173615.3 +1 validated p.K328N 0.000 362 0% 163 49.7% 0 - benign(0.008) tolerated(0.38) neutral(0.018) NULL EEF2K 29904 genome.wustl.edu 37 16 22256045 22256045 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013302.3 +1 reviewed p.R114Q 0.991 111 0% 35 68.6% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like EEF2K 29904 genome.wustl.edu 37 16 22295238 22295238 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013302.3 +1 reviewed p.A700V 1.000 33 0% 24 45.8% 20 55% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sel1,superfamily_SSF81901 CDR2 1039 genome.wustl.edu 37 16 22359078 22359078 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001802.1 -1 validated p.D191 0.033 246 0% 80 12.5% 44 11.3% - - - NULL COG7 91949 genome.wustl.edu 37 16 23409430 23409430 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153603.3 -1 reviewed p.I608 0.989 117 0% 109 46.8% 28 46.4% - - - HMMPfam_COG7 GGA2 23062 genome.wustl.edu 37 16 23497460 23497460 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015044.4 -1 reviewed p.S225L 0.590 121 0% 71 46.5% 44 36.3% possibly_damaging(0.907) tolerated(0.46) neutral(0.372) HMMPfam_GAT,superfamily_SSF89009 ERN2 10595 genome.wustl.edu 37 16 23711868 23711868 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033266.3 -1 validated p.D554G 0.526 106 0% 51 47.1% 0 - probably_damaging(0.981) tolerated(0.35) neutral(0.446) superfamily_Protein kinase-like (PK-like) PRKCB 5579 genome.wustl.edu 37 16 24104115 24104115 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002738.6 +1 reviewed p.R178I 1.000 158 0% 79 41.8% 1 0% benign(0.001) tolerated(0.47) neutral(0.011) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PRKCB 5579 genome.wustl.edu 37 16 24104185 24104185 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002738.6 +1 reviewed p.I201 1.000 265 0% 109 44% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PRKCB 5579 genome.wustl.edu 37 16 24135276 24135276 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002738.6 +1 reviewed p.V347M 1.000 414 0% 104 46.2% 1 0% possibly_damaging(0.93) deleterious(0.03) deleterious(0.741) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRKCB 5579 genome.wustl.edu 37 16 24192219 24192219 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002738.6 +1 reviewed p.F501L 1.000 167 0% 59 42.4% 2 50% 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 24226083 24226083 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002738.6 +1 reviewed p.F656 1.000 116 0.9% 113 34.5% 0 - - - - HMMSmart_SM00133,HMMPfam_Pkinase_C CACNG3 10368 genome.wustl.edu 37 16 24372779 24372779 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006539.2 +1 reviewed p.F181 0.997 196 0.5% 112 42% 0 - - - - HMMPfam_PMP22_Claudin CACNG3 10368 genome.wustl.edu 37 16 24372898 24372898 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006539.2 +1 reviewed p.F221S 0.966 247 0% 84 44% 0 - benign(0.312) tolerated(0.24) neutral(0.135) NULL RBBP6 5930 genome.wustl.edu 37 16 24582752 24582752 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006910.4 +1 reviewed p.K1455 0.990 80 0% 100 53% 32 46.8% - - - NULL TNRC6A 27327 genome.wustl.edu 37 16 24802265 24802265 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014494.2 +1 reviewed p.D768Y 1.000 49 0% 50 32% 1 0% possibly_damaging(0.87) deleterious(0.01) deleterious(0.744) NULL ZKSCAN2 342357 genome.wustl.edu 37 16 25252049 25252049 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012981.4 -1 validated p.I664 0.005 164 0% 93 41.9% 1 0% - - - NULL HS3ST4 9951 genome.wustl.edu 37 16 26147193 26147193 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000331351 +1 known p.R332Q 1.000 95 0% 36 44.4% 0 - possibly_damaging(0.626) tolerated(0.27) neutral(0.252) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases HS3ST4 9951 genome.wustl.edu 37 16 26147465 26147465 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000331351 +1 known p.D423N 0.994 153 0% 43 44.2% 0 - probably_damaging(0.957) tolerated(0.06) deleterious(0.723) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases JMJD5 79831 genome.wustl.edu 37 16 27226253 27226253 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145348.1 +1 reviewed p.S279L 1.000 141 0% 60 41.7% 0 - benign(0.106) tolerated(0.1) neutral(0.294) superfamily_SSF51197 NSMCE1 197370 genome.wustl.edu 37 16 27236549 27236549 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145080.3 -1 validated p.D244N 0.996 108 0% 41 48.8% 133 50.3% benign(0) tolerated(0.67) neutral(0.003) superfamily_SSF57850 GTF3C1 2975 genome.wustl.edu 37 16 27518332 27518332 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001520.3 -1 validated p.E463G 0.997 118 0% 48 37.5% 26 38.4% possibly_damaging(0.614) tolerated(0.14) neutral(0.463) NULL GTF3C1 2975 genome.wustl.edu 37 16 27518472 27518472 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001520.3 -1 validated p.F416L 1.000 64 1.6% 48 45.8% 21 52.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_B-block_TFIIIC KIAA0556 23247 genome.wustl.edu 37 16 27709696 27709696 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015202.2 +1 validated p.L330I 0.000 21 0% 15 40% 4 0% benign(0.001) tolerated(0.93) - NULL XPO6 23214 genome.wustl.edu 37 16 28117402 28117402 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015171.2 -1 provisional p.A916T 0.234 48 0% 50 36% 115 46.9% benign(0) tolerated(0.12) neutral(0.261) superfamily_ARM repeat XPO6 23214 genome.wustl.edu 37 16 28187399 28187399 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015171.2 -1 provisional p.M75I 1.000 96 0% 65 44.6% 27 66.6% benign(0.256) tolerated(0.11) neutral(0.298) HMMPfam_IBN_N,superfamily_ARM repeat IL27 246778 genome.wustl.edu 37 16 28513424 28513424 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145659.3 -1 reviewed p.T112M 0.000 156 0% 29 55.2% 1 0% probably_damaging(0.969) tolerated(0.27) neutral(0.445) NULL ATP2A1 487 genome.wustl.edu 37 16 28890824 28890824 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173201.2 +1 reviewed p.K47E 1.000 116 0% 84 50% 4 0% benign(0.082) tolerated(0.16) neutral(0.066) HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M ATP2A1 487 genome.wustl.edu 37 16 28895931 28895931 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173201.2 +1 reviewed p.A167T 0.002 19 0% 29 48.3% 0 - 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 28909721 28909721 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173201.2 +1 reviewed p.P571 0.015 36 0% 31 48.4% 0 - - - - HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M RABEP2 79874 genome.wustl.edu 37 16 28917048 28917048 + Missense_Mutation SNP G G A rs184144701 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024816.2 -1 validated p.R490W 1.000 41 0% 30 46.7% 60 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rab5-bind CD19 930 genome.wustl.edu 37 16 28947495 28947495 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001770.5 +1 reviewed p.R323I 0.998 220 0% 97 53.6% 4 0% possibly_damaging(0.951) deleterious(0) deleterious(0.839) NULL LOC100289169 100289169 genome.wustl.edu 37 16 29063858 29063858 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343436.1 +1 model p.E154* 0.314 19 0% 20 35% 0 - - - - NULL RRN3P2 653390 genome.wustl.edu 37 16 29096069 29096069 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000415221 +1 known p.I151T 1.000 28 0% 53 45.3% 15 0% possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) HMMPfam_RRN3 MVP 9961 genome.wustl.edu 37 16 29848155 29848155 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005115.3 +1 reviewed p.D262V 0.717 13 0% 19 47.4% 30 10% unknown(0) - - HMMPfam_Vault ZNF48 197407 genome.wustl.edu 37 16 30409815 30409815 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152652.1 +1 provisional p.R415Q 0.982 10 0% 13 46.2% 34 61.7% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ZNF48 197407 genome.wustl.edu 37 16 30409982 30409982 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152652.1 +1 provisional p.R471C 0.998 16 0% 17 52.9% 37 45.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers STX1B 112755 genome.wustl.edu 37 16 31008077 31008077 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052874.3 -1 validated p.T155I 1.000 47 0% 19 42.1% 0 - benign(0.107) deleterious(0.02) neutral(0.392) superfamily_t-snare proteins ZNF646 9726 genome.wustl.edu 37 16 31087727 31087727 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014699.3 +1 validated p.E28* 0.997 27 0% 45 53.3% 7 28.5% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF646 9726 genome.wustl.edu 37 16 31088502 31088502 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014699.3 +1 validated p.R286Q 0.980 35 0% 74 43.2% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ITGAM 3684 genome.wustl.edu 37 16 31284734 31284734 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000632.3 +1 reviewed p.K251N 1.000 217 0% 72 44.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF69318 ITGAM 3684 genome.wustl.edu 37 16 31309132 31309132 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000632.3 +1 reviewed p.A522T 1.000 260 0% 48 45.8% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_FG-GAP,HMMSmart_Int_alpha,superfamily_SSF69318 ITGAM 3684 genome.wustl.edu 37 16 31332855 31332855 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000632.3 +1 reviewed p.E637* 0.136 316 0% 169 47.9% 0 - - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGAM 3684 genome.wustl.edu 37 16 31341692 31341692 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000632.3 +1 reviewed p.E1042* 0.000 239 0% 43 16.3% 5 0% - - - NULL ITGAD 3681 genome.wustl.edu 37 16 31435470 31435470 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005353.2 +1 validated p.F1069 0.023 86 0% 109 55% 1 0% - - - NULL ZNF843 283933 genome.wustl.edu 37 16 31448151 31448151 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136509.1 -1 provisional p.A7D 0.119 24 0% 24 58.3% 0 - unknown(0) - - NULL TGFB1I1 7041 genome.wustl.edu 37 16 31485256 31485256 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042454.2 +1 reviewed p.R95W 1.000 17 0% 40 42.5% 10 30% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SLC5A2 6524 genome.wustl.edu 37 16 31497052 31497052 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003041.3 +1 reviewed p.A102 0.983 30 0% 20 40% 0 - - - - HMMPfam_SSF SLC5A2 6524 genome.wustl.edu 37 16 31500022 31500022 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003041.3 +1 reviewed p.T403 0.000 15 0% 18 55.6% 0 - - - - HMMPfam_SSF ZNF267 10308 genome.wustl.edu 37 16 31926849 31926849 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003414.4 +1 validated p.K427E 0.948 82 0% 56 32.1% 7 57.1% possibly_damaging(0.546) deleterious(0.01) deleterious(0.591) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000214627 0 genome.wustl.edu 37 16 31987272 31987272 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000398685 +1 known p.S25 0.998 71 0% 46 43.5% 0 - - - - NULL LOC729264 729264 genome.wustl.edu 37 16 32264967 32264967 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001133674.2 +1 model p.R98Q 0.017 361 0% 203 24.1% 0 - - - - NULL IGHV3OR16-8 388255 genome.wustl.edu 37 16 33647517 33647517 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000438532 -1 known p.G28E 0.971 136 0% 98 62.2% 0 - possibly_damaging(0.759) deleterious(0) deleterious(0.726) HMMPfam_V-set,superfamily_Immunoglobulin ENSG00000214581 0 genome.wustl.edu 37 16 34681372 34681372 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000398617 -1 known p.S158Y 0.055 8 0.000 7 0.571 0 - unknown(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C16orf87 388272 genome.wustl.edu 37 16 46836981 46836981 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001436.2 -1 predicted p.E116D 0.999 149 0% 91 37.4% 33 42.4% possibly_damaging(0.892) tolerated(0.35) neutral(0.372) NULL NETO2 81831 genome.wustl.edu 37 16 47162359 47162359 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018092.3 -1 reviewed p.R120C 1.000 97 0% 81 12.3% 40 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ITFG1 81533 genome.wustl.edu 37 16 47294474 47294474 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030790.3 -1 provisional p.F401L 1.000 247 0% 75 54.7% 32 93.7% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_SSF69318 ITFG1 81533 genome.wustl.edu 37 16 47294542 47294542 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030790.3 -1 provisional p.R379* 0.987 278 0% 96 46.9% 27 0% - - - superfamily_SSF69318 ITFG1 81533 genome.wustl.edu 37 16 47462744 47462744 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030790.3 -1 provisional p.F209C 1.000 190 0% 122 45.9% 20 10% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITFG1 81533 genome.wustl.edu 37 16 47487979 47487979 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030790.3 -1 provisional p.N124K 0.954 86 0% 79 43% 20 15% benign(0.001) tolerated(0.53) neutral(0.007) superfamily_SSF69318 PHKB 5257 genome.wustl.edu 37 16 47733200 47733200 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000293.2 +1 reviewed p.L1069V 1.000 236 0% 90 36.7% 98 46.9% probably_damaging(0.978) tolerated(0.07) deleterious(0.740) HMMPfam_PHK_AB ABCC12 94160 genome.wustl.edu 37 16 48120699 48120699 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033226.2 -1 reviewed p.D1223N 0.966 128 0% 59 55.9% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC12 94160 genome.wustl.edu 37 16 48121986 48121986 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033226.2 -1 reviewed p.S1162 0.000 57 0% 49 34.7% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC12 94160 genome.wustl.edu 37 16 48130769 48130769 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033226.2 -1 reviewed p.R1028I 0.305 179 0% 93 43% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC12 94160 genome.wustl.edu 37 16 48175259 48175259 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033226.2 -1 reviewed p.R94Q 0.818 196 0% 56 35.7% 0 - benign(0.015) tolerated(0.55) neutral(0.007) NULL ABCC12 94160 genome.wustl.edu 37 16 48180266 48180266 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033226.2 -1 reviewed p.R24 0.864 391 0% 69 11.6% 0 - - - - NULL ABCC11 85320 genome.wustl.edu 37 16 48256649 48256649 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032583.3 -1 reviewed p.E213K 0.509 225 0% 74 44.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain CBLN1 869 genome.wustl.edu 37 16 49313398 49313398 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004352.3 -1 validated p.A167S 1.000 61 0% 78 41% 0 - benign(0.245) deleterious(0) deleterious(0.470) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like ZNF423 23090 genome.wustl.edu 37 16 49672377 49672377 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015069.2 -1 reviewed p.R229H 1.000 13 0% 26 53.8% 21 52.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NOD2 64127 genome.wustl.edu 37 16 50757289 50757289 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022162.1 +1 reviewed p.E959A 0.998 210 0% 84 38.1% 0 - probably_damaging(0.994) tolerated(0.38) deleterious(0.470) HMMSmart_SM00368,superfamily_RNI-like CYLD 1540 genome.wustl.edu 37 16 50783614 50783614 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015247.2 +1 reviewed p.S2N 1.000 56 0% 44 38.6% 8 12.5% benign(0) deleterious(0) neutral(0.445) NULL SALL1 6299 genome.wustl.edu 37 16 51173588 51173588 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002968.2 -1 reviewed p.D849Y 1.000 108 0% 65 52.3% 39 41% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL CHD9 80205 genome.wustl.edu 37 16 53190782 53190782 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025134.4 +1 validated p.S261P 1.000 98 0% 83 37.3% 1 0% benign(0) tolerated(0.28) neutral(0.032) NULL CHD9 80205 genome.wustl.edu 37 16 53358587 53358587 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025134.4 +1 validated p.F2809C 1.000 207 0% 79 45.6% 3 66.6% unknown(0) tolerated(0.17) - NULL AKTIP 64400 genome.wustl.edu 37 16 53532453 53532453 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012398.1 -1 reviewed p.R33Q 1.000 193 0% 147 43.5% 21 23.8% probably_damaging(0.971) deleterious(0.02) deleterious(0.796) NULL FTO 79068 genome.wustl.edu 37 16 53922795 53922795 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080432.2 +1 reviewed p.K391Q 0.581 531 0% 109 13.8% 44 9% benign(0.167) tolerated(0.27) neutral(0.049) NULL MMP2 4313 genome.wustl.edu 37 16 55530924 55530924 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004530.4 +1 reviewed p.I520T 0.999 182 0% 60 45% 221 27.6% possibly_damaging(0.909) deleterious(0) deleterious(0.806) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX LPCAT2 54947 genome.wustl.edu 37 16 55584993 55584993 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017839.4 +1 reviewed p.Q398H 1.000 201 0% 83 44.6% 41 58.5% benign(0.022) deleterious(0.02) neutral(0.384) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand SLC6A2 6530 genome.wustl.edu 37 16 55703603 55703603 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001043.3 +1 reviewed p.F134S 1.000 38 0% 19 42.1% 0 - probably_damaging(0.974) deleterious(0.03) deleterious(0.780) HMMPfam_SNF CES1 1066 genome.wustl.edu 37 16 55850856 55850856 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001025195.1 -1 reviewed p.L309V 0.070 70 0% 105 42.9% 1 0% benign(0.026) tolerated(0.19) neutral(0.051) HMMPfam_COesterase,superfamily_SSF53474 AMFR 267 genome.wustl.edu 37 16 56419833 56419833 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144.4 -1 reviewed p.M460L 0.998 160 0% 44 43.2% 67 56.7% benign(0.413) tolerated(0.26) neutral(0.168) HMMPfam_CUE,HMMSmart_SM00546 BBS2 583 genome.wustl.edu 37 16 56534772 56534772 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031885.3 -1 reviewed p.R464I 1.000 332 0% 63 50.8% 26 50% possibly_damaging(0.816) deleterious(0.02) deleterious(0.692) NULL CCDC135 84229 genome.wustl.edu 37 16 57756994 57756994 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032269.5 +1 validated p.D497N 0.001 15 0% 42 52.4% 0 - benign(0.059) tolerated(0.6) neutral(0.009) NULL CCDC135 84229 genome.wustl.edu 37 16 57765082 57765082 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032269.5 +1 validated p.K846T 1.000 22 0% 81 48.1% 0 - possibly_damaging(0.883) deleterious(0.01) deleterious(0.750) NULL ZNF319 57567 genome.wustl.edu 37 16 58030752 58030752 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020807.1 -1 provisional p.F473S 1.000 15 0% 14 57.1% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_ZnF_C2H2,superfamily_SSF57667 CCDC113 29070 genome.wustl.edu 37 16 58296358 58296358 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014157.3 +1 validated p.L233I 0.849 236 0% 96 58.3% 4 100% probably_damaging(0.991) tolerated(0.35) neutral(0.465) NULL CCDC113 29070 genome.wustl.edu 37 16 58296370 58296370 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014157.3 +1 validated p.E237* 1.000 221 0% 94 38.3% 7 0% - - - NULL CNOT1 23019 genome.wustl.edu 37 16 58565906 58565906 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016284.3 -1 validated p.R2045W 1.000 135 0% 79 44.3% 34 32.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Not1 CNOT1 23019 genome.wustl.edu 37 16 58573716 58573716 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016284.3 -1 validated p.R1650* 1.000 111 0% 74 52.7% 51 33.3% - - - NULL CNOT1 23019 genome.wustl.edu 37 16 58575487 58575487 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016284.3 -1 validated p.E1573A 1.000 115 0% 49 53.1% 79 62% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL CNOT1 23019 genome.wustl.edu 37 16 58580367 58580367 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016284.3 -1 validated p.K1288N 1.000 215 0% 94 46.8% 52 25% possibly_damaging(0.894) tolerated(0.06) deleterious(0.674) NULL CNOT1 23019 genome.wustl.edu 37 16 58615420 58615420 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016284.3 -1 validated e10-1 1.000 54 0% 108 46.3% 4 100% - - - - CDH8 1006 genome.wustl.edu 37 16 61761024 61761024 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001796.2 -1 reviewed p.L504V 1.000 214 0% 30 46.7% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) HMMPfam_Cadherin,superfamily_Cadherin CDH8 1006 genome.wustl.edu 37 16 62055147 62055147 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001796.2 -1 reviewed p.R54L 1.000 175 0% 94 45.7% 0 - possibly_damaging(0.578) tolerated(0.26) neutral(0.233) NULL ENSG00000250685 0 genome.wustl.edu 37 16 65319049 65319049 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000505989 -1 known NULL 0.538 11 0.000 7 1.000 0 - - - - - TK2 7084 genome.wustl.edu 37 16 66582907 66582907 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004614.4 -1 reviewed p.E86* 0.998 78 0% 370 44.9% 4 0% - - - NULL NAE1 8883 genome.wustl.edu 37 16 66857470 66857470 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003905.3 -1 reviewed p.E95* 1.000 77 0% 216 41.2% 41 19.5% - - - HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins C16orf70 80262 genome.wustl.edu 37 16 67173923 67173923 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025187.3 +1 provisional p.R233Q 1.000 95 0% 118 39.8% 14 50% benign(0.174) tolerated(0.97) neutral(0.016) HMMPfam_UPF0183 E2F4 1874 genome.wustl.edu 37 16 67231533 67231533 + Silent SNP C C A rs189616961 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001950.3 +1 reviewed p.I355 1.000 70 0% 159 48.4% 74 44.5% - - - NULL KCTD19 146212 genome.wustl.edu 37 16 67325284 67325284 + Silent SNP G G T rs188969016 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100915.1 -1 provisional p.I831 0.996 125 0% 60 41.7% 0 - - - - NULL KCTD19 146212 genome.wustl.edu 37 16 67327539 67327539 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100915.1 -1 provisional p.D709G 1.000 142 0% 77 50.6% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL KCTD19 146212 genome.wustl.edu 37 16 67331520 67331520 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100915.1 -1 provisional p.E345K 0.994 128 0% 131 42.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LRRC36 55282 genome.wustl.edu 37 16 67381468 67381468 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018296.5 +1 validated p.E154D 1.000 105 0% 88 39.8% 0 - benign(0.009) tolerated(0.05) neutral(0.346) NULL CTCF 10664 genome.wustl.edu 37 16 67645069 67645069 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006565.2 +1 reviewed p.E112* 1.000 86 0% 77 57.1% 46 39.1% - - - NULL EDC4 23644 genome.wustl.edu 37 16 67917981 67917981 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014329.3 +1 validated p.N1379S 1.000 56 0% 29 13.8% 78 52.5% benign(0.008) tolerated(0.77) neutral(0.001) NULL NFATC3 4775 genome.wustl.edu 37 16 68225256 68225256 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173165.1 +1 reviewed p.S895Y 1.000 160 0% 123 45.5% 25 56% possibly_damaging(0.644) deleterious(0.01) deleterious(0.631) NULL ESRP2 80004 genome.wustl.edu 37 16 68267737 68267737 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024939.2 -1 validated p.E164* 1.000 54 0% 57 49.1% 8 12.5% - - - NULL SLC7A6 9057 genome.wustl.edu 37 16 68331170 68331170 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001076785.1 +1 validated p.F496C 0.998 167 0% 99 41.4% 2 50% benign(0.001) deleterious(0.05) neutral(0.345) NULL ZFP90 146198 genome.wustl.edu 37 16 68598492 68598492 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000327567 +1 known p.E74* 1.000 95 0% 48 50% 18 61.1% - - - NULL CDH1 999 genome.wustl.edu 37 16 68853288 68853288 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004360.3 +1 reviewed p.K557N 1.000 221 0% 64 37.5% 172 31.3% possibly_damaging(0.912) deleterious(0.01) deleterious(0.769) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like NFAT5 10725 genome.wustl.edu 37 16 69703968 69703968 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138713.2 +1 reviewed p.K486N 0.999 42 0% 66 34.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains DDX19A 55308 genome.wustl.edu 37 16 70384467 70384467 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018332.3 +1 provisional p.N22S 0.926 367 0% 475 45.1% 15 46.6% benign(0) tolerated(0.6) neutral(0.004) NULL HYDIN 54768 genome.wustl.edu 37 16 70863632 70863632 + Silent SNP G G A rs112196683 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032821.2 -1 validated p.G4666 0.007 125 0% 74 31.1% 2 50% - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70916794 70916794 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032821.2 -1 validated p.F3327 0.929 370 0% 113 36.3% 0 - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70926344 70926344 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032821.2 -1 validated p.E3112* 0.828 994 0% 614 17.8% 1 0% - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70955065 70955065 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032821.2 -1 validated p.S2404Y 0.759 180 0% 163 39.3% 1 0% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL FTSJD1 55783 genome.wustl.edu 37 16 71319634 71319634 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099642.1 -1 validated p.L64I 1.000 206 0% 115 45.2% 4 75% benign(0.01) tolerated(0.2) neutral(0.050) NULL CALB2 794 genome.wustl.edu 37 16 71416637 71416637 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001740.3 +1 reviewed p.D120N 1.000 909 0.2% 161 46.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 ZNF23 7571 genome.wustl.edu 37 16 71482273 71482273 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145911.1 -1 provisional p.R552I 0.998 336 0% 174 51.1% 11 45.4% probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF23 7571 genome.wustl.edu 37 16 71482923 71482923 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145911.1 -1 provisional p.P335 0.985 192 0% 119 38.7% 8 37.5% - - - superfamily_SSF57667 ZNF23 7571 genome.wustl.edu 37 16 71483281 71483281 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145911.1 -1 provisional p.R216I 1.000 188 0% 119 13.4% 7 14.2% probably_damaging(0.976) deleterious(0.03) deleterious(0.782) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF23 7571 genome.wustl.edu 37 16 71483306 71483306 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145911.1 -1 provisional p.N208H 0.001 166 0% 95 44.2% 7 42.8% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF23 7571 genome.wustl.edu 37 16 71483770 71483770 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145911.1 -1 provisional p.N53S 0.002 73 0% 64 35.9% 4 25% benign(0.232) tolerated(0.73) neutral(0.025) NULL ZNF19 7567 genome.wustl.edu 37 16 71509099 71509099 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006961.3 -1 reviewed p.E451* 0.200 126 0.8% 71 16.9% 0 - - - - NULL CHST4 10164 genome.wustl.edu 37 16 71571459 71571459 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005769.2 +1 reviewed p.F293 0.000 146 0% 44 27.3% 0 - - - - superfamily_SSF52540 MARVELD3 91862 genome.wustl.edu 37 16 71674334 71674334 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017967.2 +1 validated p.L213I 1.000 186 0% 139 41.7% 30 33.3% possibly_damaging(0.892) tolerated(0.11) deleterious(0.623) HMMPfam_MARVEL AP1G1 164 genome.wustl.edu 37 16 71782272 71782272 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001030007.1 -1 reviewed p.D506N 1.000 118 0% 83 49.4% 19 57.8% benign(0.002) tolerated(0.41) neutral(0.015) HMMPfam_Adaptin_N,superfamily_ARM repeat AP1G1 164 genome.wustl.edu 37 16 71790001 71790001 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001030007.1 -1 reviewed p.E387* 1.000 132 0% 126 44.4% 8 0% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat ATXN1L 342371 genome.wustl.edu 37 16 71883719 71883719 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137675.2 +1 validated p.M26V 1.000 75 0% 55 40% 16 56.2% benign(0.014) tolerated(0.47) neutral(0.011) NULL ZNF821 55565 genome.wustl.edu 37 16 71898859 71898859 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017530.1 -1 provisional p.E45* 1.000 310 0% 175 42.9% 20 20% - - - NULL IST1 9798 genome.wustl.edu 37 16 71949586 71949586 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014761.2 +1 provisional p.L15V 1.000 84 0% 167 46.7% 71 57.7% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL PKD1L3 342372 genome.wustl.edu 37 16 72011246 72011246 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000335106 -1 known p.D550Y 0.838 332 0% 250 17.6% 0 - - - - NULL PKD1L3 342372 genome.wustl.edu 37 16 72020176 72020176 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000335106 -1 known p.H260N 0.001 221 0% 130 33.8% 0 - - - - NULL PKD1L3 342372 genome.wustl.edu 37 16 72024196 72024196 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000335106 -1 known p.P190S 0.000 168 0% 125 47.2% 0 - - - - NULL HP 3240 genome.wustl.edu 37 16 72092223 72092223 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005143.3 +1 reviewed p.K112N 0.003 352 0% 106 17.9% 1 0% benign(0.007) tolerated(0.57) neutral(0.006) HMMSmart_CCP,superfamily_Complement_control_module HPR 3250 genome.wustl.edu 37 16 72110692 72110692 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020995.3 +1 validated p.T253 0.002 196 0% 63 42.9% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZFHX3 463 genome.wustl.edu 37 16 72830871 72830871 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006885.3 -1 reviewed p.G1904S 0.004 350 0% 125 37.6% 18 44.4% unknown(0) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72993329 72993329 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006885.3 -1 reviewed p.K239R 1.000 53 1.9% 61 18% 4 0% unknown(0) - - NULL WDR59 79726 genome.wustl.edu 37 16 74937847 74937847 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030581.3 -1 validated p.R622W 1.000 94 1.1% 32 43.8% 14 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDR59 79726 genome.wustl.edu 37 16 74949884 74949884 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030581.3 -1 validated p.E370* 1.000 318 0% 169 36.7% 19 31.5% - - - NULL ZFP1 162239 genome.wustl.edu 37 16 75203971 75203971 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153688.2 +1 validated p.E321D 1.000 72 0% 63 39.7% 5 60% benign(0.119) tolerated(0.09) neutral(0.306) superfamily_C2H2 and C2HC zinc fingers KARS 3735 genome.wustl.edu 37 16 75669973 75669973 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130089.1 -1 reviewed p.F197C 1.000 85 0% 115 50.4% 104 51.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_tRNA_anti,superfamily_Nucleic_acid_OB CNTNAP4 85445 genome.wustl.edu 37 16 76483713 76483713 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033401.3 +1 reviewed p.S343* 0.996 78 0% 55 47.3% 0 - - - - NULL CNTNAP4 85445 genome.wustl.edu 37 16 76486408 76486408 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138994.3 +1 validated p.N286H 1.000 170 0% 116 40.5% 0 - possibly_damaging(0.787) deleterious(0) deleterious(0.739) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases CNTNAP4 85445 genome.wustl.edu 37 16 76569632 76569632 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138994.3 +1 validated p.F909L 1.000 77 0% 31 48.4% 0 - possibly_damaging(0.508) deleterious(0.01) deleterious(0.576) HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases CNTNAP4 85445 genome.wustl.edu 37 16 76572194 76572194 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033401.3 +1 reviewed p.A1059V 1.000 69 0% 41 43.9% 0 - - - - NULL CNTNAP4 85445 genome.wustl.edu 37 16 76573742 76573742 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138994.3 +1 validated p.F1043C 0.996 54 0% 39 43.6% 0 - possibly_damaging(0.66) tolerated(0.18) neutral(0.289) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CLEC3A 10143 genome.wustl.edu 37 16 78064372 78064372 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005752.3 +1 validated p.K76N 1.000 32 0% 19 52.6% 0 - benign(0.202) tolerated(0.35) neutral(0.040) HMMSmart_CLECT,superfamily_C-type_lectin_fold CDYL2 124359 genome.wustl.edu 37 16 80719009 80719009 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152342.2 -1 validated p.D14E 1.000 33 3% 18 38.9% 4 50% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_Chromo,HMMSmart_CHROMO,superfamily_Chromodomain-like ATMIN 23300 genome.wustl.edu 37 16 81078026 81078026 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015251.2 +1 validated p.F641L 1.000 38 0% 62 53.2% 48 50% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL C16orf46 123775 genome.wustl.edu 37 16 81095298 81095298 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152337.2 -1 validated p.S219* 0.002 41 0% 31 38.7% 3 66.6% - - - NULL PKD1L2 114780 genome.wustl.edu 37 16 81222551 81222551 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001076780.1 -1 reviewed p.P575H 1.000 137 0% 105 14.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BCMO1 53630 genome.wustl.edu 37 16 81324059 81324059 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017429.2 +1 reviewed p.V507 0.000 121 0% 76 42.1% 2 50% - - - HMMPfam_RPE65 CMIP 80790 genome.wustl.edu 37 16 81712033 81712033 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198390.2 +1 validated p.V396 0.999 23 0% 28 50% 30 40% - - - NULL CDH13 1012 genome.wustl.edu 37 16 83251057 83251057 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001257.3 +1 reviewed p.V197 1.000 123 0% 63 44.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH13 1012 genome.wustl.edu 37 16 83378579 83378579 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001257.3 +1 reviewed p.Y250C 0.999 77 0% 17 35.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,superfamily_Cadherin CDH13 1012 genome.wustl.edu 37 16 83636176 83636176 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001257.3 +1 reviewed p.S360A 0.996 155 0% 56 51.8% 1 0% benign(0.001) tolerated(0.83) neutral(0.001) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin MLYCD 23417 genome.wustl.edu 37 16 83948685 83948685 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012213.2 +1 reviewed p.S358L 0.036 113 0% 128 50.8% 12 33.3% benign(0.017) tolerated(0.28) neutral(0.032) HMMPfam_MCD USP10 9100 genome.wustl.edu 37 16 84801926 84801926 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005153.2 +1 reviewed p.E654* 1.000 106 0% 84 44% 54 7.4% - - - HMMPfam_UCH,superfamily_SSF54001 CRISPLD2 83716 genome.wustl.edu 37 16 84872300 84872300 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031476.3 +1 validated p.R67W 1.000 41 0% 18 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like FAM92B 339145 genome.wustl.edu 37 16 85135934 85135934 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198491.1 -1 predicted e7-1 1.000 36 0% 62 40.3% 0 - - - - - MTHFSD 64779 genome.wustl.edu 37 16 86580183 86580183 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022764.2 -1 validated p.V141I 0.997 54 0% 64 59.4% 7 42.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_5-FTHF_cyc-lig,superfamily_SSF100950 ZCCHC14 23174 genome.wustl.edu 37 16 87451144 87451144 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015144.2 -1 validated p.Q298H 0.734 90 0% 87 25.3% 4 75% unknown(0) deleterious(0) - HMMPfam_SAM_1,superfamily_SAM/Pointed domain JPH3 57338 genome.wustl.edu 37 16 87717829 87717829 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020655.2 +1 reviewed p.I414 1.000 16 0% 29 37.9% 0 - - - - NULL ZNF469 84627 genome.wustl.edu 37 16 88498432 88498432 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127464.1 +1 reviewed p.L1490 0.002 20 0% 71 49.3% 0 - - - - NULL SNAI3 333929 genome.wustl.edu 37 16 88747780 88747780 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178310.3 -1 validated p.L140P 0.000 10 0% 13 61.5% 3 0% benign(0) tolerated(0.3) neutral(0.029) NULL ANKRD11 29123 genome.wustl.edu 37 16 89349853 89349853 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013275.4 -1 validated p.S1033G 0.929 327 0.3% 431 37.8% 35 54.2% benign(0.001) tolerated(0.57) neutral(0.006) superfamily_Ankyrin repeat ANKRD11 29123 genome.wustl.edu 37 16 89351717 89351717 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000378332 -1 known p.R424L 0.015 47 0% 102 50% 27 40.7% unknown(0) deleterious(0) - NULL TUBB3 10381 genome.wustl.edu 37 16 90001203 90001203 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006086.2 +1 validated p.S115L 1.000 31 0% 59 42.4% 44 52.2% possibly_damaging(0.469) deleterious(0.01) deleterious(0.559) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like GAS8 2622 genome.wustl.edu 37 16 90106785 90106785 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001481.2 +1 reviewed p.K363N 1.000 45 0% 27 44.4% 68 48.5% probably_damaging(0.967) deleterious(0) deleterious(0.853) NULL FAM157C 100132055 genome.wustl.edu 37 16 90167862 90167862 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001714162.2 +1 model p.K22R 0.040 378 0% 306 18% 0 - - - - NULL FAM157C 100132055 genome.wustl.edu 37 16 90171202 90171202 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001714162.2 +1 model p.T170 0.004 105 0% 89 18% 0 - - - - NULL C17orf97 400566 genome.wustl.edu 37 17 263106 263106 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013672.4 +1 validated p.E158K 0.000 142 0% 123 44.7% 13 38.4% probably_damaging(0.979) tolerated(0.1) deleterious(0.708) NULL GEMIN4 50628 genome.wustl.edu 37 17 648416 648416 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015721.2 -1 reviewed p.A956V 0.001 9 0.000 20 0.350 31 54.8% benign(0) tolerated(0.29) neutral(0.029) NULL MYO1C 4641 genome.wustl.edu 37 17 1377933 1377933 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080779.1 -1 reviewed p.E590K 1.000 29 0% 30 50% 28 35.7% benign(0.294) tolerated(0.13) neutral(0.344) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases PRPF8 10594 genome.wustl.edu 37 17 1577887 1577887 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006445.3 -1 reviewed p.L1050 1.000 83 0% 88 44.3% 31 83.8% - - - HMMPfam_RRM_4 PRPF8 10594 genome.wustl.edu 37 17 1582175 1582175 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006445.3 -1 reviewed p.E534* 1.000 100 0% 131 46.6% 26 7.6% - - - HMMPfam_PROCN WDR81 124997 genome.wustl.edu 37 17 1631710 1631710 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000409644 +1 known p.E1153K 1.000 12 0% 32 43.8% 8 62.5% probably_damaging(0.996) tolerated(0.15) deleterious(0.703) superfamily_WD40 repeat-like SMG6 23293 genome.wustl.edu 37 17 2202611 2202611 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017575.4 -1 validated p.T479N 1.000 27 0% 25 44% 11 45.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SRR 63826 genome.wustl.edu 37 17 2218978 2218978 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021947.1 +1 provisional p.L42I 1.000 293 0% 197 41.1% 9 0% possibly_damaging(0.45) tolerated(0.12) neutral(0.408) HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu TSR1 55720 genome.wustl.edu 37 17 2228029 2228029 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018128.4 -1 validated p.K705N 1.000 112 0% 121 37.2% 50 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF663 RAP1GAP2 23108 genome.wustl.edu 37 17 2901655 2901655 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015085.4 +1 reviewed p.E395D 0.397 80 0% 93 57% 9 33.3% benign(0) tolerated(1) - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) RAP1GAP2 23108 genome.wustl.edu 37 17 2934292 2934292 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015085.4 +1 reviewed p.A728 1.000 108 0% 61 47.5% 10 20% - - - NULL OR1A1 8383 genome.wustl.edu 37 17 3119584 3119584 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014565.2 +1 validated p.V224F 0.719 361 0% 83 36.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 OR3A2 4995 genome.wustl.edu 37 17 3181497 3181497 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002551.3 -1 validated p.K245E 0.998 142 0.7% 77 45.5% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_7tm_1,superfamily_SSF81321 OR3A1 4994 genome.wustl.edu 37 17 3195115 3195115 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002550.2 -1 validated p.F254L 0.789 131 0% 64 42.2% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_7tm_1,superfamily_SSF81321 OR3A1 4994 genome.wustl.edu 37 17 3195594 3195594 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002550.2 -1 validated p.V95I 0.000 162 0% 50 50% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 ASPA 443 genome.wustl.edu 37 17 3392582 3392582 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000049.2 +1 reviewed p.Q194K 1.000 125 0% 96 40.6% 0 - benign(0) tolerated(1) - HMMPfam_AstE_AspA TRPV1 7442 genome.wustl.edu 37 17 3493236 3493236 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018727.5 -1 reviewed p.T303 0.973 129 0% 49 44.9% 2 50% - - - superfamily_Ankyrin repeat P2RX5 5026 genome.wustl.edu 37 17 3591956 3591956 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002561.2 -1 reviewed p.K284T 0.003 57 0% 166 51.2% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_P2X_receptor P2RX5 5026 genome.wustl.edu 37 17 3592047 3592047 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002561.2 -1 reviewed p.V254M 1.000 52 0% 116 43.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR ITGAE 3682 genome.wustl.edu 37 17 3680856 3680856 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002208.4 -1 reviewed p.D45Y 0.995 51 0% 31 35.5% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) superfamily_SSF69318 C17orf85 55421 genome.wustl.edu 37 17 3719517 3719517 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001114118.1 -1 provisional p.R453Q 1.000 248 0% 253 40.7% 48 39.5% benign(0.233) deleterious(0) neutral(0.468) NULL CAMKK1 84254 genome.wustl.edu 37 17 3789001 3789001 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000381769 -1 known p.R21I 0.000 19 0% 19 42.1% 0 - unknown(0) - - NULL P2RX1 5023 genome.wustl.edu 37 17 3819478 3819478 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002558.2 -1 reviewed p.F14 0.744 11 0% 13 46.2% 1 0% - - - HMMPfam_P2X_receptor ZZEF1 23140 genome.wustl.edu 37 17 3923012 3923012 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015113.3 -1 validated p.E2486K 1.000 281 0% 91 44% 18 11.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CYB5D2 124936 genome.wustl.edu 37 17 4053270 4053270 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144611.3 +1 validated p.E112D 0.999 245 0% 93 51.6% 17 29.4% benign(0.009) tolerated(0.62) neutral(0.005) HMMPfam_Cyt-b5,superfamily_Cyt_B5 ANKFY1 51479 genome.wustl.edu 37 17 4098375 4098375 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016376.3 -1 validated p.E424K 1.000 109 0% 39 28.2% 15 46.6% benign(0.418) tolerated(0.14) neutral(0.385) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SPNS2 124976 genome.wustl.edu 37 17 4440216 4440216 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001124758.1 +1 provisional p.P543 0.001 38 0% 13 30.8% 3 66.6% - - - NULL MYBBP1A 10514 genome.wustl.edu 37 17 4455766 4455766 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105538.1 -1 validated p.F239L 0.951 28 0% 48 37.5% 25 44% benign(0.287) tolerated(0.89) neutral(0.088) HMMPfam_DNA_pol_phi,superfamily_ARM-type_fold TM4SF5 9032 genome.wustl.edu 37 17 4685923 4685923 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003963.2 +1 reviewed p.F128 0.897 66 0% 37 40.5% 0 - - - - HMMPfam_L6_membrane ENSG00000249874 0 genome.wustl.edu 37 17 4692742 4692742 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000510649 -1 known NULL 0.000 6 0.000 11 0.636 1 0% - - - - CHRNE 1145 genome.wustl.edu 37 17 4805931 4805931 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000080.3 -1 reviewed p.T58 1.000 138 0.7% 180 45% 1 0% - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD RNF167 26001 genome.wustl.edu 37 17 4845732 4845732 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015528.1 +1 provisional p.R88* 1.000 58 0% 52 57.7% 56 12.5% - - - HMMPfam_PA,superfamily_SSF52025 USP6 9098 genome.wustl.edu 37 17 5036227 5036227 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004505.2 +1 validated p.R73Q 0.998 118 0% 208 34.1% 0 - unknown(0) deleterious(0) - superfamily_Ypt/Rab-GAP domain of gyp1p RABEP1 9135 genome.wustl.edu 37 17 5235304 5235304 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004703.4 +1 validated p.R75Q 1.000 225 0% 128 37.5% 19 57.8% benign(0.033) tolerated(0.36) neutral(0.022) NULL RABEP1 9135 genome.wustl.edu 37 17 5250091 5250091 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004703.4 +1 validated p.E219* 1.000 99 0% 119 34.5% 4 50% - - - NULL RABEP1 9135 genome.wustl.edu 37 17 5250208 5250208 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004703.4 +1 validated p.E258* 1.000 115 0.9% 113 44.2% 10 20% - - - NULL RABEP1 9135 genome.wustl.edu 37 17 5268524 5268524 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004703.4 +1 validated p.S592 0.000 177 0% 84 46.4% 7 42.8% - - - HMMPfam_Rabaptin NLRP1 22861 genome.wustl.edu 37 17 5463166 5463166 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033004.3 -1 reviewed p.L284I 0.756 395 0% 314 43.3% 1 100% probably_damaging(0.984) deleterious(0.05) deleterious(0.776) NULL WSCD1 23302 genome.wustl.edu 37 17 5984205 5984205 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015253.1 +1 validated p.R76Q 0.050 4 0.000 10 0.500 0 - benign(0.389) tolerated(0.36) neutral(0.144) NULL AIPL1 23746 genome.wustl.edu 37 17 6329030 6329030 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014336.3 -1 reviewed p.R302H 0.987 141 0% 46 89.1% 0 - benign(0.152) tolerated(0.08) neutral(0.314) superfamily_SSF48452 TEKT1 83659 genome.wustl.edu 37 17 6718555 6718555 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053285.1 -1 reviewed p.D186Y 0.984 573 0.2% 159 44.7% 0 - possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) HMMPfam_Tektin BCL6B 255877 genome.wustl.edu 37 17 6928019 6928020 + In_Frame_Ins INS - - CAG novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181844.3 +1 validated p.238in_frame_insS 0.939:0.528 - - - - - - - - - NULL PHF23 79142 genome.wustl.edu 37 17 7139564 7139564 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024297.2 -1 validated p.R228W 0.142 89 0% 130 44.6% 62 41.9% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SLC2A4 6517 genome.wustl.edu 37 17 7189830 7189830 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042.2 +1 reviewed p.T471I 1.000 211 0% 134 47.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter NEURL4 84461 genome.wustl.edu 37 17 7228681 7228681 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032442.2 -1 validated p.R493Q 1.000 42 0% 44 47.7% 12 41.6% benign(0.098) deleterious(0.04) neutral(0.356) NULL ACAP1 9744 genome.wustl.edu 37 17 7247050 7247050 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014716.3 +1 validated p.K185T 1.000 133 0% 161 32.3% 3 0% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL ACAP1 9744 genome.wustl.edu 37 17 7252458 7252458 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014716.3 +1 validated p.A608V 1.000 77 0% 44 40.9% 2 0% possibly_damaging(0.61) deleterious(0.03) deleterious(0.576) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FXR2 9513 genome.wustl.edu 37 17 7497267 7497267 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004860.3 -1 reviewed p.A359V 1.000 115 0% 106 47.2% 63 38% benign(0.002) tolerated(1) - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) WRAP53 55135 genome.wustl.edu 37 17 7606422 7606422 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018081.2 +1 validated p.Q460 0.928 70 0% 51 62.7% 66 42.4% - - - superfamily_WD40_like DNAH2 146754 genome.wustl.edu 37 17 7696521 7696521 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020877.2 +1 validated p.R2523* 1.000 161 0% 62 53.2% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7720727 7720727 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020877.2 +1 validated p.I3338 0.110 234 0% 43 41.9% 0 - - - - NULL DNAH2 146754 genome.wustl.edu 37 17 7734074 7734074 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020877.2 +1 validated p.H4048 0.937 64 0% 62 43.5% 0 - - - - HMMPfam_Dynein_heavy CHD3 1107 genome.wustl.edu 37 17 7807783 7807783 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005271.2 +1 reviewed p.I1365 1.000 202 0% 93 37.6% 293 49.4% - - - HMMPfam_DUF1087 CHD3 1107 genome.wustl.edu 37 17 7811008 7811008 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005271.2 +1 reviewed p.L1731V 1.000 83 0% 65 43.1% 167 37.7% benign(0) - - NULL CNTROB 116840 genome.wustl.edu 37 17 7840087 7840087 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000380262 +1 known p.L260 1.000 80 0% 50 42% 37 48.6% - - - NULL ALOXE3 59344 genome.wustl.edu 37 17 8018935 8018935 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021628.2 -1 reviewed p.E142* 1.000 191 0% 161 41% 0 - - - - superfamily_Lipoxygenase AURKB 9212 genome.wustl.edu 37 17 8110894 8110894 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004217.2 -1 validated p.I67 0.000 208 0% 97 37.1% 53 41.5% - - - superfamily_Protein kinase-like (PK-like) CTC1 80169 genome.wustl.edu 37 17 8141554 8141554 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025099.5 -1 validated p.D148Y 1.000 93 0% 77 48.1% 4 100% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL PFAS 5198 genome.wustl.edu 37 17 8159678 8159678 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012393.2 +1 reviewed p.Q258H 1.000 28 0% 21 47.6% 15 46.6% probably_damaging(0.994) tolerated(0.57) neutral(0.458) superfamily_PurM N-terminal domain-like MYH10 4628 genome.wustl.edu 37 17 8381707 8381707 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005964.1 -1 validated p.I1854 1.000 175 0% 141 44% 185 54% - - - HMMPfam_Myosin_tail_1 MFSD6L 162387 genome.wustl.edu 37 17 8702265 8702265 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152599.3 -1 validated p.I58 0.740 28 0% 29 51.7% 3 33.3% - - - superfamily_MFS_gen_substrate_transporter WDR16 146845 genome.wustl.edu 37 17 9515765 9515765 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145054.4 +1 validated p.F332L 1.000 351 0% 102 48% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMSmart_SM00320,superfamily_WD40 repeat-like DHRS7C 201140 genome.wustl.edu 37 17 9674865 9674865 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105571.1 -1 validated p.F292L 1.000 72 0% 53 43.4% 0 - benign(0) tolerated(1) - NULL DHRS7C 201140 genome.wustl.edu 37 17 9680562 9680562 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105571.1 -1 validated p.I173 0.000 177 0% 173 44.5% 0 - - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains GAS7 8522 genome.wustl.edu 37 17 9862555 9862555 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201433.1 -1 reviewed p.S163 0.961 275 0% 124 37.1% 1 100% - - - NULL MYH13 8735 genome.wustl.edu 37 17 10263503 10263503 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003802.2 -1 validated p.R170* 1.000 485 0% 162 45.7% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH13 8735 genome.wustl.edu 37 17 10265586 10265586 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003802.2 -1 validated p.Y118* 1.000 648 0% 212 42% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH8 4626 genome.wustl.edu 37 17 10299772 10299772 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002472.2 -1 reviewed e31-1 1.000 412 0% 332 42.8% 0 - - - - - MYH8 4626 genome.wustl.edu 37 17 10312869 10312869 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002472.2 -1 reviewed p.M542L 1.000 262 0% 112 42.9% 0 - possibly_damaging(0.715) deleterious(0.02) deleterious(0.642) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH8 4626 genome.wustl.edu 37 17 10317719 10317719 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002472.2 -1 reviewed p.K296N 1.000 218 0% 143 30.1% 0 - benign(0.01) tolerated(0.46) neutral(0.013) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH8 4626 genome.wustl.edu 37 17 10321972 10321972 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002472.2 -1 reviewed p.F167L 1.000 260 0% 101 47.5% 0 - possibly_damaging(0.689) tolerated(0.28) neutral(0.278) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10366475 10366475 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017533.2 -1 validated p.Q279R 1.000 164 0% 178 52.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10366476 10366476 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017533.2 -1 validated p.Q279* 1.000 163 0% 178 52.2% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10368790 10368790 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017533.2 -1 validated p.I158 1.000 202 0% 91 36.3% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10400424 10400424 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005963.3 -1 reviewed p.E1540* 1.000 640 0% 332 41.6% 0 - - - - HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10400701 10400701 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005963.3 -1 reviewed p.S1478 0.991 312 0% 185 41.1% 0 - - - - HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10411894 10411894 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005963.3 -1 reviewed p.G561 0.931 305 0% 185 47.6% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10415162 10415162 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005963.3 -1 reviewed p.I470 1.000 306 0.3% 86 46.5% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10424623 10424623 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100112.1 -1 reviewed p.H1934N 1.000 314 0% 123 33.3% 0 - benign(0.004) tolerated(0.26) neutral(0.034) NULL MYH2 4620 genome.wustl.edu 37 17 10428304 10428304 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100112.1 -1 reviewed p.K1581E 1.000 331 0% 223 42.6% 0 - benign(0.334) tolerated(0.1) neutral(0.391) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10433230 10433230 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100112.1 -1 reviewed p.C953 0.997 639 0% 509 38.9% 0 - - - - NULL MYH2 4620 genome.wustl.edu 37 17 10433385 10433385 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100112.1 -1 reviewed p.E902K 1.000 344 0% 350 42.9% 0 - benign(0.202) deleterious(0.01) neutral(0.425) NULL LOC100131621 100131621 genome.wustl.edu 37 17 10441027 10441027 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001721685.1 +1 model p.D58N 0.941 306 0% 145 53.1% 0 - - - - NULL MYH2 4620 genome.wustl.edu 37 17 10446245 10446245 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100112.1 -1 reviewed p.R284I 1.000 35 0% 49 38.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10451105 10451105 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100112.1 -1 reviewed p.E45* 1.000 319 0% 108 46.3% 0 - - - - HMMPfam_Myosin_N MYH3 4621 genome.wustl.edu 37 17 10536042 10536042 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002470.2 -1 reviewed p.V1569 1.000 354 0% 157 51% 0 - - - - HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10558223 10558223 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002470.2 -1 reviewed p.K53N 1.000 146 0% 186 45.7% 0 - benign(0.148) tolerated(0.06) neutral(0.336) HMMPfam_Myosin_N C17orf48 56985 genome.wustl.edu 37 17 10614368 10614368 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020233.4 +1 validated p.V312 0.923 295 0% 108 51.9% 21 33.3% - - - superfamily_Metallo-dependent phosphatases DNAH9 1770 genome.wustl.edu 37 17 11520776 11520776 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001372.3 +1 reviewed p.R318H 0.536 42 0% 19 47.4% 0 - benign(0.188) tolerated(0.06) neutral(0.340) HMMPfam_DHC_N1 DNAH9 1770 genome.wustl.edu 37 17 11593689 11593689 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001372.3 +1 reviewed p.R1517Q 0.996 130 0% 38 31.6% 0 - benign(0.073) deleterious(0) neutral(0.450) HMMPfam_DHC_N2 DNAH9 1770 genome.wustl.edu 37 17 11772518 11772518 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001372.3 +1 reviewed p.C3334F 1.000 105 0% 46 39.1% 0 - possibly_damaging(0.702) deleterious(0) deleterious(0.697) NULL DNAH9 1770 genome.wustl.edu 37 17 11778359 11778359 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001372.3 +1 reviewed p.D3446N 1.000 166 0% 54 55.6% 0 - possibly_damaging(0.484) deleterious(0) deleterious(0.605) NULL DNAH9 1770 genome.wustl.edu 37 17 11806135 11806135 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001372.3 +1 reviewed p.E3836* 1.000 104 0% 67 35.8% 0 - - - - HMMPfam_Dynein_heavy DNAH9 1770 genome.wustl.edu 37 17 11837305 11837305 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001372.3 +1 reviewed p.R4136* 0.005 99 0% 101 48.5% 0 - - - - HMMPfam_Dynein_heavy MYOCD 93649 genome.wustl.edu 37 17 12626284 12626284 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153604.2 +1 reviewed p.N125S 1.000 160 0% 53 58.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00707 MYOCD 93649 genome.wustl.edu 37 17 12647661 12647661 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153604.2 +1 reviewed p.Q293 1.000 53 0% 43 46.5% 0 - - - - NULL CDRT15 146822 genome.wustl.edu 37 17 14139314 14139314 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007530.1 -1 provisional p.S142 0.034 275 0% 89 19.1% 0 - - - - NULL TEKT3 64518 genome.wustl.edu 37 17 15207373 15207373 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031898.2 -1 reviewed p.I451 1.000 274 0% 73 47.9% 0 - - - - HMMPfam_Tektin CDRT1 374286 genome.wustl.edu 37 17 15499875 15499875 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006382.3 -1 provisional p.R553* 1.000 265 0% 170 31.2% 1 100% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TRIM16 10626 genome.wustl.edu 37 17 15554676 15554676 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006470.3 -1 reviewed p.D83G 0.495 336 0% 100 37% 14 42.8% benign(0.001) tolerated(0.41) neutral(0.015) HMMSmart_SM00336 NCOR1 9611 genome.wustl.edu 37 17 15938210 15938210 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006311.2 -1 reviewed p.S2335Y 1.000 209 0% 72 38.9% 72 43% possibly_damaging(0.867) deleterious(0) deleterious(0.781) NULL NCOR1 9611 genome.wustl.edu 37 17 16052787 16052787 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006311.2 -1 reviewed p.R296I 1.000 126 0% 161 46% 10 40% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ZNF287 57336 genome.wustl.edu 37 17 16471008 16471008 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020653.2 -1 validated p.R13H 0.041 85 0% 57 61.4% 5 20% probably_damaging(0.99) tolerated(0.1) deleterious(0.728) NULL ZNF624 57547 genome.wustl.edu 37 17 16526660 16526660 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020787.2 -1 validated p.N514H 0.854 78 0% 64 50% 3 33.3% probably_damaging(1) tolerated(0.69) deleterious(0.502) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF624 57547 genome.wustl.edu 37 17 16527571 16527571 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020787.2 -1 validated p.I210S 0.004 169 0% 186 41.4% 1 0% benign(0.006) tolerated(0.84) neutral(0.001) NULL CCDC144A 9720 genome.wustl.edu 37 17 16608692 16608692 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014695.1 +1 provisional p.E215* 0.473 346 0% 234 24.4% 0 - - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16612773 16612773 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014695.1 +1 provisional p.S468R 0.292 372 0% 322 45.3% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL CCDC144A 9720 genome.wustl.edu 37 17 16630875 16630875 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000328495 +1 known p.F126S 0.166 363 0% 401 22.7% 2 0% - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16630972 16630972 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014695.1 +1 provisional p.N675H 0.638 429 0% 431 37.4% 1 0% benign(0.394) tolerated(0.09) neutral(0.423) NULL CCDC144A 9720 genome.wustl.edu 37 17 16665751 16665751 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014695.1 +1 provisional p.S1264* 0.096 54 0% 75 30.7% 0 - - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16667344 16667344 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014695.1 +1 provisional p.R1318I 0.006 299 0.3% 132 27.3% 0 - unknown(0) tolerated(0.06) - NULL TNFRSF13B 23495 genome.wustl.edu 37 17 16855848 16855848 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012452.2 -1 reviewed p.E37 0.994 79 0% 37 45.9% 0 - - - - PatternScan_TNFR_NGFR_1 MPRIP 23164 genome.wustl.edu 37 17 17064565 17064565 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000423885 +1 known p.A173V 0.993 14 0% 29 37.9% 72 41.6% - - - NULL COPS3 8533 genome.wustl.edu 37 17 17174227 17174227 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003653.2 -1 reviewed p.R94Q 1.000 136 0% 118 46.6% 73 39.7% possibly_damaging(0.519) tolerated(0.19) neutral(0.224) NULL RASD1 51655 genome.wustl.edu 37 17 17399288 17399288 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016084.3 -1 reviewed p.E70K 1.000 59 0% 43 44.2% 11 9% possibly_damaging(0.697) tolerated(0.07) deleterious(0.569) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TOM1L2 146691 genome.wustl.edu 37 17 17766093 17766093 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001082968.1 -1 validated p.D385A 1.000 132 0% 107 41.1% 7 42.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL C17orf39 79018 genome.wustl.edu 37 17 17957467 17957467 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024052.4 +1 validated p.F175 1.000 118 0% 219 42.5% 12 25% - - - HMMPfam_Vac_ImportDeg FLII 2314 genome.wustl.edu 37 17 18148549 18148549 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002018.2 -1 reviewed p.R1238Q 0.011 34 0% 12 66.7% 113 50.4% benign(0.038) deleterious(0.05) neutral(0.347) HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF55753 TOP3A 7156 genome.wustl.edu 37 17 18194238 18194238 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004618.3 -1 reviewed p.Q462P 0.882 73 0% 61 52.5% 28 60.7% benign(0.218) tolerated(0.16) neutral(0.081) superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00437,HMMPfam_Topoisom_bac LOC645139 645139 genome.wustl.edu 37 17 18553888 18553888 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_928169.3 +1 model p.P167Q 0.528 75 0% 197 30.5% 0 - - - - superfamily_ARM repeat FBXW10 10517 genome.wustl.edu 37 17 18675864 18675864 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031456.3 +1 validated p.L716I 0.000 70 0% 109 46.8% 0 - possibly_damaging(0.485) tolerated(0.23) neutral(0.203) NULL PRPSAP2 5636 genome.wustl.edu 37 17 18769254 18769254 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002767.2 +1 reviewed p.K36N 1.000 105 0% 129 48.8% 36 55.5% benign(0.003) tolerated(0.35) neutral(0.021) superfamily_SSF53271 ALDH3A2 224 genome.wustl.edu 37 17 19559862 19559862 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031806.1 +1 reviewed p.D219Y 1.000 167 0% 207 45.4% 87 52.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ALDH3A2 224 genome.wustl.edu 37 17 19575085 19575085 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031806.1 +1 reviewed p.S420Y 1.000 110 0% 155 40.6% 98 33.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Aldehyde_DH/Histidinol_DH ULK2 9706 genome.wustl.edu 37 17 19769055 19769055 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142610.1 -1 reviewed p.I59 1.000 39 0% 238 37.8% 4 25% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AKAP10 11216 genome.wustl.edu 37 17 19861351 19861351 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007202.2 -1 reviewed p.E285* 0.998 222 0% 217 40.6% 6 0% - - - HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS SPECC1 92521 genome.wustl.edu 37 17 20109172 20109172 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033553.1 +1 validated p.E604* 1.000 72 0% 32 43.8% 0 - - - - NULL SPECC1 92521 genome.wustl.edu 37 17 20160786 20160786 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033553.1 +1 validated p.E901D 1.000 58 0% 40 37.5% 1 0% benign(0.041) tolerated(0.54) neutral(0.010) NULL CCDC144C 348254 genome.wustl.edu 37 17 20227502 20227502 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000425519 +1 known p.Q117 0.000 104 0% 399 30.1% 0 - - - - NULL CCDC144C 348254 genome.wustl.edu 37 17 20268942 20268942 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000425519 +1 known p.N801H 0.502 124 0% 78 41% 0 - benign(0.047) tolerated(0.25) neutral(0.040) NULL CCDC144NL 339184 genome.wustl.edu 37 17 20798990 20798990 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004306.1 -1 provisional p.S115I 0.150 68 0% 22 50% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL DHRS7B 25979 genome.wustl.edu 37 17 21081629 21081629 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015510.3 +1 validated p.E95* 0.999 97 0% 56 51.8% 27 0% - - - HMMPfam_adh_short,superfamily_NAD(P)-bd KSR1 8844 genome.wustl.edu 37 17 25904559 25904559 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014238.1 +1 validated p.M1I 1.000 94 0.000 9 0.667 5 0% possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL POLDIP2 26073 genome.wustl.edu 37 17 26681593 26681593 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015584.3 -1 reviewed p.F87V 1.000 46 0% 46 47.8% 88 52.2% - - - NULL SPAG5 10615 genome.wustl.edu 37 17 26919392 26919392 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006461.3 -1 reviewed p.E290D 0.002 77 0% 121 38.8% 38 55.2% benign(0.235) tolerated(0.39) neutral(0.040) NULL SDF2 6388 genome.wustl.edu 37 17 26982351 26982351 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006923.2 -1 reviewed p.R101Q 1.000 231 0% 85 43.5% 85 40% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 RAB34 83871 genome.wustl.edu 37 17 27041619 27041619 + Silent SNP G G A rs71669647 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142625.2 -1 validated p.L260 0.000 28 0% 30 46.7% 492 43.6% - - - HMMSmart_SM00173,HMMSmart_SM00174 RPL23A 6147 genome.wustl.edu 37 17 27049755 27049755 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000984.5 +1 reviewed p.A75D 1.000 40 0% 57 43.9% 1333 49.3% benign(0.224) tolerated(0.29) neutral(0.051) superfamily_Ribosomal proteins L23 and L15e,HMMPfam_Ribosomal_L23 ERAL1 26284 genome.wustl.edu 37 17 27186290 27186290 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005702.2 +1 provisional p.E394* 1.000 243 0% 149 38.9% 134 42.5% - - - superfamily_Prokaryotic type KH domain (KH-domain type II) SEZ6 124925 genome.wustl.edu 37 17 27284518 27284518 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178860.4 -1 validated p.R781Q 1.000 93 0% 41 51.2% 0 - probably_damaging(1) tolerated(0.5) deleterious(0.510) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain TAOK1 57551 genome.wustl.edu 37 17 27778641 27778641 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020791.1 +1 validated p.E25D 1.000 220 0% 95 51.6% 5 80% benign(0.033) tolerated(0.11) neutral(0.273) superfamily_Protein kinase-like (PK-like) TAOK1 57551 genome.wustl.edu 37 17 27857431 27857431 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020791.1 +1 validated p.E719* 1.000 10 0% 45 40% 4 25% - - - superfamily_Protein kinase-like (PK-like) ANKRD13B 124930 genome.wustl.edu 37 17 27935918 27935918 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152345.4 +1 validated p.K157N 1.000 15 0% 27 48.1% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CORO6 84940 genome.wustl.edu 37 17 27943753 27943753 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032854.3 -1 validated p.R324M 1.000 33 0% 52 36.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like,HMMPfam_DUF1900 EFCAB5 374786 genome.wustl.edu 37 17 28323348 28323348 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198529.3 +1 validated p.E315* 1.000 147 0% 158 41.8% 0 - - - - superfamily_EF-hand EFCAB5 374786 genome.wustl.edu 37 17 28417521 28417521 + Missense_Mutation SNP C C T rs190450097 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198529.3 +1 validated p.R1256C 1.000 180 0% 95 45.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NSRP1 84081 genome.wustl.edu 37 17 28512392 28512392 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032141.2 +1 validated p.N459K 0.000 135 0% 137 46.7% 21 57.1% benign(0.001) tolerated(1) - NULL CPD 1362 genome.wustl.edu 37 17 28770926 28770926 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001304.3 +1 reviewed p.K827T 0.966 171 0% 36 52.8% 25 52% benign(0.002) tolerated(0.49) neutral(0.011) HMMSmart_Zn_pept,superfamily_CarboxypepD_reg ATAD5 79915 genome.wustl.edu 37 17 29220838 29220838 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024857.3 +1 provisional p.M1656R 1.000 140 0% 233 45.5% 8 62.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TEFM 79736 genome.wustl.edu 37 17 29226360 29226360 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024683.3 -1 validated p.L304I 1.000 108 0% 133 39.8% 19 36.8% possibly_damaging(0.94) tolerated(0.07) deleterious(0.704) superfamily_Ribonuclease H-like TEFM 79736 genome.wustl.edu 37 17 29231099 29231099 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024683.3 -1 validated p.E160D 0.374 66 0% 177 38.4% 17 70.5% benign(0.001) tolerated(0.64) neutral(0.003) NULL ENSG00000250288 0 genome.wustl.edu 37 17 29351362 29351362 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000504550 +1 novel NULL 0.864 20 0% 35 34.3% 2 0% - - - - NF1 4763 genome.wustl.edu 37 17 29552127 29552127 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042492.2 +1 reviewed p.S620R 1.000 214 0% 105 41.9% 7 57.1% benign(0.008) tolerated(0.07) neutral(0.319) NULL NF1 4763 genome.wustl.edu 37 17 29559728 29559728 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042492.2 +1 reviewed p.L1109 0.948 306 0% 64 32.8% 6 0% - - - NULL NF1 4763 genome.wustl.edu 37 17 29560097 29560097 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042492.2 +1 reviewed p.E1192* 1.000 295 0% 65 36.9% 7 28.5% - - - HMMSmart_SM00323 NF1 4763 genome.wustl.edu 37 17 29580016 29580016 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042492.2 +1 reviewed p.S1391P 1.000 134 0% 52 48.1% 2 0% benign(0.02) tolerated(0.22) neutral(0.043) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP OMG 4974 genome.wustl.edu 37 17 29622428 29622428 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002544.4 -1 validated p.R308* 1.000 921 0.1% 188 44.7% 0 - - - - NULL EVI2A 2123 genome.wustl.edu 37 17 29645939 29645939 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003927.2 -1 validated p.N54K 0.852 225 0% 123 49.6% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) HMMPfam_EVI2A NF1 4763 genome.wustl.edu 37 17 29677267 29677267 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042492.2 +1 reviewed p.L2463R 1.000 201 0% 215 41.4% 11 63.6% possibly_damaging(0.444) tolerated(0.06) neutral(0.468) NULL MIR193A 406968 genome.wustl.edu 37 17 29887040 29887040 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000384882 +1 known NULL 1.000 17 0% 29 51.7% 0 - - - - - RHOT1 55288 genome.wustl.edu 37 17 30520205 30520205 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033568.1 +1 validated p.K230N 1.000 132 0% 147 46.9% 32 34.3% probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_EF_assoc_2,superfamily_SSF47473 RHOT1 55288 genome.wustl.edu 37 17 30551678 30551678 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033568.1 +1 validated p.R668* 1.000 306 0% 151 16.6% 41 17% - - - NULL MYO1D 4642 genome.wustl.edu 37 17 31039083 31039083 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015194.1 -1 provisional p.R682* 1.000 452 0% 215 49.3% 20 5% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1D 4642 genome.wustl.edu 37 17 31082563 31082563 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015194.1 -1 provisional p.L472I 1.000 337 0% 46 43.5% 8 12.5% benign(0.368) deleterious(0.01) deleterious(0.523) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000226049 0 genome.wustl.edu 37 17 32365526 32365526 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000430493 -1 known p.K398T 1.000 237 0% 395 40.3% 13 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase CCT6B 10693 genome.wustl.edu 37 17 33267637 33267637 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006584.2 -1 reviewed p.I297L 0.997 87 0% 57 43.9% 5 80% possibly_damaging(0.612) deleterious(0) deleterious(0.656) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like SLC35G3 146861 genome.wustl.edu 37 17 33520532 33520532 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152462.2 -1 validated p.V265 1.000 201 0% 132 47% 0 - - - - superfamily_Multidrug resistance efflux transporter EmrE SLFN12 55106 genome.wustl.edu 37 17 33738800 33738800 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018042.3 -1 validated p.L432 0.051 173 0% 131 51.1% 16 31.2% - - - NULL SLFN12 55106 genome.wustl.edu 37 17 33749205 33749205 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018042.3 -1 validated p.K281N 0.000 142 0% 100 54% 5 0% benign(0.076) tolerated(0.55) neutral(0.013) HMMPfam_AAA_4 SLFN12 55106 genome.wustl.edu 37 17 33749312 33749312 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018042.3 -1 validated p.E246* 0.000 128 0% 110 44.5% 1 0% - - - HMMPfam_AAA_4 SLFN12 55106 genome.wustl.edu 37 17 33749731 33749731 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018042.3 -1 validated p.F106C 0.898 142 0% 126 54.8% 5 40% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL SLFN13 146857 genome.wustl.edu 37 17 33768841 33768841 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144682.5 -1 validated p.V555M 1.000 189 0% 91 24.2% 19 47.3% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL SLFN12L 100506736 genome.wustl.edu 37 17 33802206 33802206 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145027.1 -1 validated p.A530 0.000 313 0% 295 47.5% 3 0% - - - NULL SLFN12L 100506736 genome.wustl.edu 37 17 33806627 33806627 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145027.1 -1 validated p.D230G 0.028 196 0% 169 44.4% 0 - benign(0.001) deleterious(0.04) neutral(0.349) NULL PEX12 5193 genome.wustl.edu 37 17 33904940 33904940 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000286.2 -1 reviewed p.R34I 1.000 133 0% 67 19.4% 4 25% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Pex2_Pex12 MMP28 79148 genome.wustl.edu 37 17 34100198 34100198 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024302.3 -1 reviewed p.P197H 1.000 93 0% 63 44.4% 0 - - - - NULL TAF15 8148 genome.wustl.edu 37 17 34171729 34171730 + Frame_Shift_Del DEL GG GG - novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139215.1 +1 reviewed p.G476fs 0.972:0.055 - - - - - - - - - NULL CCL23 6368 genome.wustl.edu 37 17 34340345 34340345 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005064.3 -1 reviewed p.F102L 0.598 117 0% 57 43.9% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines CCL18 6362 genome.wustl.edu 37 17 34398381 34398381 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002988.2 +1 validated p.D84N 0.015 131 0% 77 46.8% 14 0% possibly_damaging(0.775) tolerated(0.09) deleterious(0.585) HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines CCL4 6351 genome.wustl.edu 37 17 34431978 34431978 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002984.2 +1 validated p.R45H 0.000 254 0.4% 79 43% 2 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 PIGW 284098 genome.wustl.edu 37 17 34893298 34893298 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178517.3 +1 validated p.F116L 1.000 129 0% 280 50.7% 9 66.6% benign(0.157) tolerated(0.66) neutral(0.017) NULL PIGW 284098 genome.wustl.edu 37 17 34894262 34894262 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178517.3 +1 validated p.L438I 0.869 57 0% 178 38.2% 19 47.3% benign(0.025) tolerated(0.43) neutral(0.014) HMMPfam_GWT1 PIGW 284098 genome.wustl.edu 37 17 34894394 34894394 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178517.3 +1 validated p.L482I 0.151 26 0% 70 50% 22 50% benign(0.002) tolerated(0.49) neutral(0.011) NULL AATF 26574 genome.wustl.edu 37 17 35348139 35348139 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012138.3 +1 reviewed p.D461Y 1.000 325 0% 238 42.9% 82 46.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ACACA 31 genome.wustl.edu 37 17 35518823 35518823 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198834.1 -1 reviewed p.E1741K 0.997 681 0% 96 45.8% 12 75% benign(0.004) tolerated(0.11) neutral(0.272) HMMPfam_Carboxyl_trans,superfamily_SSF52096 ACACA 31 genome.wustl.edu 37 17 35564715 35564715 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198834.1 -1 reviewed e31-1 1.000 202 0% 42 33.3% 0 - - - - - ACACA 31 genome.wustl.edu 37 17 35591977 35591977 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198834.1 -1 reviewed p.E1053D 1.000 271 0% 120 42.5% 3 0% benign(0.025) tolerated(0.1) neutral(0.287) HMMPfam_ACC_central ACACA 31 genome.wustl.edu 37 17 35614625 35614625 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198834.1 -1 reviewed p.S609L 1.000 221 0% 129 42.6% 0 - possibly_damaging(0.49) deleterious(0) deleterious(0.608) HMMPfam_Biotin_carb_C,superfamily_Rudmnt_hyb_motif ACACA 31 genome.wustl.edu 37 17 35687359 35687359 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198834.1 -1 reviewed p.R31I 1.000 196 0% 85 42.4% 1 100% benign(0.003) deleterious(0) neutral(0.445) NULL SYNRG 11276 genome.wustl.edu 37 17 35937650 35937650 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007247.4 -1 reviewed p.Q217H 1.000 223 0% 157 54.8% 8 25% benign(0.002) tolerated(0.3) neutral(0.029) NULL ENSG00000174093 0 genome.wustl.edu 37 17 36352477 36352477 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000312412 -1 known p.S437* 1.000 85 0% 116 19% 63 0% - - - "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" GPR179 440435 genome.wustl.edu 37 17 36482576 36482576 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004334.2 -1 validated p.I2292 0.457 190 0% 91 35.2% 0 - - - - NULL SRCIN1 80725 genome.wustl.edu 37 17 36719126 36719126 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025248.2 -1 validated p.I257 1.000 60 0% 44 47.7% 2 50% - - - NULL FLJ43826 342666 genome.wustl.edu 37 17 37187848 37187848 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_040620.2 +1 model NULL 0.000 39 0% 55 45.5% 0 - - - - - STAC2 342667 genome.wustl.edu 37 17 37373405 37373405 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198993.3 -1 validated p.R140Q 1.000 29 0% 38 55.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain STAC2 342667 genome.wustl.edu 37 17 37374419 37374419 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198993.3 -1 validated p.R33Q 1.000 11 0% 13 76.9% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL STARD3 10948 genome.wustl.edu 37 17 37815800 37815800 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006804.3 +1 reviewed p.K263N 1.000 46 0% 54 35.2% 69 42% benign(0.217) deleterious(0) neutral(0.466) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 IKZF3 22806 genome.wustl.edu 37 17 37922088 37922088 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012481.3 -1 reviewed p.F495L 1.000 79 0% 34 44.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SNORD124 100113390 genome.wustl.edu 37 17 38183825 38183825 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_003692.2 -1 provisional NULL 0.555 31 0.000 9 0.556 2 50% - - - - MED24 9862 genome.wustl.edu 37 17 38209762 38209762 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014815.3 -1 reviewed p.F30L 1.000 158 0% 178 39.3% 18 55.5% benign(0) tolerated(0.33) neutral(0.024) NULL TOP2A 7153 genome.wustl.edu 37 17 38546357 38546357 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001067.2 -1 reviewed p.R1443 0.019 125 0% 134 53% 279 46.9% - - - HMMPfam_DTHCT SMARCE1 6605 genome.wustl.edu 37 17 38788515 38788515 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003079.4 -1 reviewed p.R216W 1.000 254 0% 60 41.7% 212 38.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KRT24 192666 genome.wustl.edu 37 17 38859843 38859843 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019016.2 -1 reviewed p.L35M 0.014 49 0% 24 37.5% 0 - unknown(0) deleterious(0.04) - NULL KRT26 353288 genome.wustl.edu 37 17 38925240 38925240 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181539.4 -1 reviewed p.R360* 0.753 173 0% 78 44.9% 0 - - - - HMMPfam_Filament KRT10 3858 genome.wustl.edu 37 17 38975878 38975878 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000421.3 -1 reviewed p.R422* 0.001 305 0.3% 123 44.7% 0 - - - - HMMPfam_Filament KRT23 25984 genome.wustl.edu 37 17 39092668 39092668 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015515.3 -1 reviewed p.R63I 0.000 61 0% 43 65.1% 16 62.5% possibly_damaging(0.819) tolerated(0.39) neutral(0.326) NULL KRT39 390792 genome.wustl.edu 37 17 39115061 39115061 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_213656.3 -1 reviewed p.S423Y 0.002 166 0% 52 42.3% 0 - possibly_damaging(0.887) deleterious(0.03) deleterious(0.712) NULL KRT39 390792 genome.wustl.edu 37 17 39118725 39118725 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_213656.3 -1 reviewed p.E267* 0.984 405 0% 146 21.9% 0 - - - - HMMPfam_Filament KRT39 390792 genome.wustl.edu 37 17 39122910 39122910 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_213656.3 -1 reviewed p.R67C 0.000 609 0% 164 47.6% 0 - benign(0.001) tolerated(0.2) neutral(0.049) NULL KRTAP4-6 81871 genome.wustl.edu 37 17 39296498 39296498 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000345847 -1 known p.R81H 0.991 155 0% 26 65.4% 0 - unknown(0) deleterious(0.02) - HMMPfam_Keratin_B2 KRT33B 3884 genome.wustl.edu 37 17 39522822 39522822 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002279.3 -1 reviewed p.R163H 1.000 129 0% 52 38.5% 0 - possibly_damaging(0.478) tolerated(0.07) deleterious(0.477) HMMPfam_Filament KRT36 8689 genome.wustl.edu 37 17 39643421 39643421 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003771.4 -1 reviewed p.R330Q 0.969 71 0% 20 55% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Filament KRT36 8689 genome.wustl.edu 37 17 39644510 39644510 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003771.4 -1 reviewed p.K228N 1.000 125 0% 78 47.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Prefoldin,HMMPfam_Filament KRT13 3860 genome.wustl.edu 37 17 39658687 39658687 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153490.2 -1 reviewed p.K395Q 1.000 237 0% 78 35.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT14 3861 genome.wustl.edu 37 17 39740051 39740051 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000526.4 -1 reviewed p.E296D 1.000 127 0% 88 48.9% 0 - possibly_damaging(0.833) deleterious(0.02) deleterious(0.701) superfamily_Prefoldin,HMMPfam_Filament NKIRAS2 28511 genome.wustl.edu 37 17 40174499 40174499 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001349.2 +1 validated p.F59L 1.000 69 0% 73 42.5% 68 35.2% benign(0.002) tolerated(0.7) neutral(0.002) HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases STAT5B 6777 genome.wustl.edu 37 17 40359740 40359740 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012448.3 -1 reviewed p.R638I 1.000 79 0% 85 43.5% 12 0% probably_damaging(0.956) tolerated(0.15) deleterious(0.641) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 STAT5A 6776 genome.wustl.edu 37 17 40452749 40452749 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003152.3 +1 reviewed p.E284K 1.000 76 0% 32 43.8% 10 10% possibly_damaging(0.642) deleterious(0.02) deleterious(0.608) HMMPfam_STAT_alpha,superfamily_STAT STAT3 6774 genome.wustl.edu 37 17 40474477 40474477 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139276.2 -1 reviewed p.K642E 1.000 129 0% 94 44.7% 52 42.3% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_SH2,superfamily_SH2 domain ATP6V0A1 535 genome.wustl.edu 37 17 40618522 40618522 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130020.1 +1 reviewed p.L65F 1.000 470 0% 505 45.9% 20 55% probably_damaging(0.991) tolerated(0.16) deleterious(0.504) HMMPfam_V_ATPase_I ATP6V0A1 535 genome.wustl.edu 37 17 40622223 40622223 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130020.1 +1 reviewed p.Q137P 1.000 35 0% 70 45.7% 10 20% possibly_damaging(0.947) tolerated(0.27) neutral(0.424) HMMPfam_V_ATPase_I COASY 80347 genome.wustl.edu 37 17 40716755 40716755 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042532.2 +1 validated p.Y388S 0.998 31 0% 62 41.9% 56 58.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CoaE,superfamily_SSF52540 PSMC3IP 29893 genome.wustl.edu 37 17 40729246 40729246 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016556.2 -1 validated p.I70 0.998 182 0% 107 36.4% 30 43.3% - - - HMMPfam_TBPIP PLEKHH3 79990 genome.wustl.edu 37 17 40821751 40821751 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000445882 -1 known p.C730Y 0.002 4 0.000 23 0.391 3 33.3% - - - NULL EZH1 2145 genome.wustl.edu 37 17 40870044 40870044 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001991.3 -1 validated p.E325* 1.000 173 0% 143 44.1% 1 0% - - - NULL EZH1 2145 genome.wustl.edu 37 17 40880886 40880886 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001991.3 -1 validated p.R25Q 1.000 128 0% 317 46.1% 2 50% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL AOC2 314 genome.wustl.edu 37 17 40997280 40997280 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_009590.2 +1 reviewed p.R213C 0.000 32 0% 20 45% 1 100% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_Cu_amine_oxidN3,superfamily_Amine oxidase N-terminal region AOC2 314 genome.wustl.edu 37 17 41002254 41002254 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_009590.2 +1 reviewed p.Y720* 0.810 355 0.3% 114 48.2% 4 25% - - - HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain BRCA1 672 genome.wustl.edu 37 17 41245531 41245531 + Nonsense_Mutation SNP C C A rs80357638 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007294.3 -1 reviewed p.E673* 0.994 193 0% 128 41.4% 3 33.3% - - - NULL TMEM106A 113277 genome.wustl.edu 37 17 41369761 41369761 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145041.1 +1 provisional p.Y244D 0.219 177 0% 68 48.5% 2 100% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_DUF1356 TMEM106A 113277 genome.wustl.edu 37 17 41369772 41369772 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145041.1 +1 provisional p.C247 0.974 167 0% 63 38.1% 2 0% - - - HMMPfam_DUF1356 DHX8 1659 genome.wustl.edu 37 17 41576242 41576242 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004941.1 +1 reviewed p.E438A 1.000 146 0% 133 39.1% 28 60.7% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL DUSP3 1845 genome.wustl.edu 37 17 41852201 41852201 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004090.3 -1 reviewed p.F77L 1.000 182 0% 136 50% 30 23.3% possibly_damaging(0.559) deleterious(0.01) deleterious(0.596) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II MPP2 4355 genome.wustl.edu 37 17 41958492 41958492 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005374.3 -1 reviewed p.K318N 1.000 223 0% 119 46.2% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SH3-domain ATXN7L3 56970 genome.wustl.edu 37 17 42273175 42273175 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020218.1 -1 validated p.P189H 1.000 65 0% 151 35.8% 41 48.7% possibly_damaging(0.473) deleterious(0.03) deleterious(0.520) NULL GPATCH8 23131 genome.wustl.edu 37 17 42477585 42477585 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001002909.1 -1 validated p.E620D 0.405 80 0% 97 54.6% 20 30% unknown(0) tolerated(0.45) - NULL C17orf104 284071 genome.wustl.edu 37 17 42744996 42744996 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145080.2 +1 validated p.L573I 1.000 32 0% 88 45.5% 1 100% possibly_damaging(0.882) tolerated(0.29) neutral(0.373) NULL C17orf104 284071 genome.wustl.edu 37 17 42745149 42745149 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145080.2 +1 validated p.K624E 1.000 65 0% 73 46.6% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL DBF4B 80174 genome.wustl.edu 37 17 42818751 42818751 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145663.1 +1 validated p.S254Y 1.000 148 0% 243 46.1% 8 37.5% probably_damaging(0.982) tolerated(0.1) deleterious(0.713) NULL ADAM11 4185 genome.wustl.edu 37 17 42850653 42850653 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002390.4 +1 reviewed p.R284C 0.159 40 0% 54 48.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" EFTUD2 9343 genome.wustl.edu 37 17 42957995 42957995 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004247.3 -1 validated p.K182N 1.000 164 0% 99 43.4% 71 52.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU,superfamily_SSF52540 EFTUD2 9343 genome.wustl.edu 37 17 42971804 42971804 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004247.3 -1 validated p.E29A 1.000 351 0% 206 44.2% 52 42.3% benign(0) tolerated(0.27) neutral(0.034) NULL NMT1 4836 genome.wustl.edu 37 17 43180480 43180480 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021079.3 +1 provisional p.F385 0.898 118 0% 61 47.5% 41 56% - - - HMMPfam_NMT_C,superfamily_Acyl-CoA N-acyltransferases (Nat) FMNL1 752 genome.wustl.edu 37 17 43322467 43322467 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005892.3 +1 reviewed p.A907V 1.000 59 0% 34 52.9% 14 14.2% possibly_damaging(0.93) tolerated(0.07) deleterious(0.696) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) PLEKHM1 9842 genome.wustl.edu 37 17 43535656 43535656 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014798.2 -1 reviewed p.R486 0.995 39 0% 69 49.3% 13 38.4% - - - NULL LOC100288229 100288229 genome.wustl.edu 37 17 43625955 43625955 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343565.1 -1 model p.R583* 0.001 67 0% 104 18.3% 0 - - - - NULL MAPT 4137 genome.wustl.edu 37 17 44060700 44060700 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001123066.3 +1 validated p.D177G 0.014 14 0.000 5 1.000 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL MAPT 4137 genome.wustl.edu 37 17 44087685 44087685 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001123066.3 +1 validated p.I613L 0.998 128 0% 64 40.6% 0 - benign(0.007) tolerated(0.48) neutral(0.011) HMMPfam_Tubulin-binding LRRC37A2 474170 genome.wustl.edu 37 17 44592234 44592234 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001006607.2 +1 validated p.Q719R 0.000 107 0% 124 21.8% 0 - probably_damaging(0.993) tolerated(0.15) deleterious(0.691) NULL LRRC37A2 474170 genome.wustl.edu 37 17 44626686 44626686 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001006607.2 +1 validated p.R1394I 0.000 31 0% 104 31.7% 7 28.5% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL LRRC37A2 474170 genome.wustl.edu 37 17 44626874 44626874 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001006607.2 +1 validated p.E1457K 0.000 187 0.5% 137 19.7% 7 0% benign(0.018) deleterious(0.02) neutral(0.384) NULL LRRC37A2 474170 genome.wustl.edu 37 17 44632749 44632749 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001006607.2 +1 validated p.K1671N 0.000 223 0% 272 33.5% 7 28.5% possibly_damaging(0.84) deleterious(0) deleterious(0.766) NULL GOSR2 9570 genome.wustl.edu 37 17 45012643 45012643 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012511.1 +1 reviewed p.F195 0.000 108 0% 78 42.3% 8 37.5% - - - NULL CBX1 10951 genome.wustl.edu 37 17 46154288 46154288 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127228.1 -1 reviewed p.L27I 1.000 790 0% 695 45.9% 175 38.8% probably_damaging(0.998) tolerated(0.24) deleterious(0.512) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like HOXB1 3211 genome.wustl.edu 37 17 46607208 46607208 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002144.3 -1 reviewed p.P203S 0.066 120 0% 70 51.4% 0 - possibly_damaging(0.784) deleterious(0.03) deleterious(0.658) HMMSmart_HOX,superfamily_Homeodomain_like HOXB13 10481 genome.wustl.edu 37 17 46804367 46804367 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006361.5 -1 reviewed p.R214C 1.000 176 0.6% 54 44.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Homeodomain-like TTLL6 284076 genome.wustl.edu 37 17 46865335 46865335 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130918.1 -1 validated p.A476V 1.000 231 0% 241 43.2% 0 - benign(0.43) tolerated(0.09) neutral(0.436) NULL UBE2Z 65264 genome.wustl.edu 37 17 47004419 47004419 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023079.3 +1 validated p.N330H 0.997 115 0% 58 55.2% 85 38.8% possibly_damaging(0.787) tolerated(0.13) deleterious(0.547) NULL SNF8 11267 genome.wustl.edu 37 17 47009068 47009068 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007241.2 -1 provisional p.Y192 0.876 191 0% 68 45.6% 149 10% - - - "HMMPfam_EAP30,superfamily_""Winged helix"" DNA-binding domain" IGF2BP1 10642 genome.wustl.edu 37 17 47117401 47117401 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006546.3 +1 reviewed p.A256T 1.000 117 0% 39 41% 0 - benign(0.31) deleterious(0) deleterious(0.541) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) ZNF652 22834 genome.wustl.edu 37 17 47394699 47394699 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145365.1 -1 validated p.V130A 0.998 140 0% 125 44.8% 5 60% possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL KAT7 11143 genome.wustl.edu 37 17 47875744 47875744 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007067.3 +1 provisional p.S135Y 1.000 79 0% 33 51.5% 14 7.1% probably_damaging(0.988) tolerated(0.12) deleterious(0.698) NULL KAT7 11143 genome.wustl.edu 37 17 47888927 47888927 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000509124 +1 known NULL 1.000 209 0% 128 35.2% 12 33.3% - - - - KAT7 11143 genome.wustl.edu 37 17 47898699 47898699 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007067.3 +1 provisional p.A386T 1.000 284 0% 79 54.4% 5 80% benign(0.096) tolerated(0.35) neutral(0.028) superfamily_Acyl-CoA N-acyltransferases (Nat) KAT7 11143 genome.wustl.edu 37 17 47899067 47899067 + Nonsense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007067.3 +1 provisional p.L434* 0.934 293 0.3% 101 46.5% 6 16.6% - - - HMMPfam_MOZ_SAS,superfamily_Acyl-CoA N-acyltransferases (Nat) DLX4 1748 genome.wustl.edu 37 17 48051260 48051260 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138281.2 +1 reviewed p.Y226H 1.000 38 0% 52 46.2% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SAMD14 201191 genome.wustl.edu 37 17 48192943 48192943 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000504418 -1 known p.E64* 1.000 49 0% 58 51.7% 1 0% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) NULL COL1A1 1277 genome.wustl.edu 37 17 48275866 48275866 + Splice_Site SNP C C A rs72667020 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000088.3 -1 reviewed e6-1 1.000 100 0% 64 42.2% 1 100% - - - - EME1 146956 genome.wustl.edu 37 17 48452847 48452847 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152463.2 +1 reviewed p.F93C 0.000 81 0% 114 46.5% 3 0% possibly_damaging(0.795) deleterious(0.03) deleterious(0.663) NULL EME1 146956 genome.wustl.edu 37 17 48458169 48458169 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152463.2 +1 reviewed p.A528T 0.739 142 0% 72 44.4% 5 40% probably_damaging(0.969) tolerated(0.24) neutral(0.449) NULL CHAD 1101 genome.wustl.edu 37 17 48545888 48545888 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001267.2 -1 reviewed p.R96H 0.995 91 0% 30 43.3% 0 - probably_damaging(0.986) tolerated(0.13) deleterious(0.687) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like EPN3 55040 genome.wustl.edu 37 17 48618255 48618255 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017957.2 +1 validated p.W361R 0.998 41 0% 38 50% 24 62.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SPATA20 64847 genome.wustl.edu 37 17 48629351 48629351 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022827.2 +1 provisional p.F589 1.000 8 0.000 21 0.333 48 43.7% - - - superfamily_Six-hairpin glycosidases CACNA1G 8913 genome.wustl.edu 37 17 48673958 48673958 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018896.3 +1 validated p.F1005L 1.000 129 0% 67 46.3% 0 - benign(0.001) tolerated(0.81) neutral(0.001) NULL SPAG9 9043 genome.wustl.edu 37 17 49062336 49062336 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130528.2 -1 reviewed p.I1012 0.949 143 0% 60 31.7% 25 40% - - - superfamily_WD40 repeat-like SPAG9 9043 genome.wustl.edu 37 17 49063074 49063074 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130528.2 -1 reviewed p.S1002L 1.000 127 0% 108 41.7% 24 41.6% possibly_damaging(0.947) deleterious(0) deleterious(0.835) superfamily_WD40 repeat-like MBTD1 54799 genome.wustl.edu 37 17 49278985 49278985 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017643.2 -1 validated p.L398I 1.000 130 0% 240 44.2% 10 40% probably_damaging(0.992) tolerated(0.09) deleterious(0.744) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT UTP18 51096 genome.wustl.edu 37 17 49357376 49357376 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016001.2 +1 validated p.E341D 1.000 115 0% 125 42.4% 26 34.6% benign(0.005) tolerated(0.06) neutral(0.323) HMMSmart_WD40,superfamily_WD40_like UTP18 51096 genome.wustl.edu 37 17 49357756 49357756 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016001.2 +1 validated p.E374* 1.000 75 0% 84 15.5% 39 0% - - - HMMSmart_WD40,superfamily_WD40_like KIF2B 84643 genome.wustl.edu 37 17 51900616 51900616 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032559.4 +1 validated p.E74D 0.998 125 0% 50 40% 0 - benign(0.19) tolerated(0.34) neutral(0.041) NULL KIF2B 84643 genome.wustl.edu 37 17 51901906 51901906 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032559.4 +1 validated p.R504 0.981 126 0% 55 41.8% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases MMD 23531 genome.wustl.edu 37 17 53478898 53478898 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012329.2 -1 reviewed p.Y150H 1.000 95 0% 122 18% 5 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_HlyIII TRIM25 7706 genome.wustl.edu 37 17 54981702 54981702 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005082.4 -1 reviewed p.L281I 0.872 413 0% 238 25.6% 18 33.3% benign(0.006) tolerated(0.11) neutral(0.272) NULL AKAP1 8165 genome.wustl.edu 37 17 55163801 55163801 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000427138 +1 known p.G2 0.000 5 0.000 29 0.414 0 - - - - NULL OR4D1 26689 genome.wustl.edu 37 17 56232526 56232526 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012374.1 +1 provisional p.Q4H 0.012 131 0% 64 46.9% 0 - benign(0.116) tolerated(0.12) neutral(0.270) superfamily_SSF81321 LPO 4025 genome.wustl.edu 37 17 56321361 56321361 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006151.2 +1 reviewed p.T28I 0.001 203 0% 61 49.2% 0 - unknown(0) tolerated(0.18) - NULL LPO 4025 genome.wustl.edu 37 17 56332252 56332252 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006151.2 +1 reviewed p.E396* 0.993 72 0% 43 41.9% 0 - - - - HMMPfam_An_peroxidase,superfamily_Peroxidase_super MTMR4 9110 genome.wustl.edu 37 17 56581125 56581125 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004687.4 -1 validated p.F597L 1.000 33 0% 30 16.7% 16 25% benign(0.004) tolerated(0.68) neutral(0.002) NULL SEPT4 5414 genome.wustl.edu 37 17 56603071 56603071 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004574.2 -1 reviewed p.L175I 0.999 95 0% 166 44.6% 0 - benign(0.039) tolerated(0.66) neutral(0.005) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases C17orf47 284083 genome.wustl.edu 37 17 56619324 56619324 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001038704.1 -1 predicted p.V522A 1.000 75 0% 112 35.7% 0 - possibly_damaging(0.86) - - NULL C17orf47 284083 genome.wustl.edu 37 17 56620405 56620405 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001038704.1 -1 predicted p.E381D 0.012 244 0% 362 47.8% 0 - possibly_damaging(0.93) - - NULL SKA2 348235 genome.wustl.edu 37 17 57189660 57189660 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182620.3 -1 validated p.K115R 0.760 136 0% 247 30.8% 104 21.1% benign(0.001) tolerated(0.66) neutral(0.003) NULL SMG8 55181 genome.wustl.edu 37 17 57290351 57290351 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018149.6 +1 validated p.H723N 1.000 116 0% 106 45.3% 22 54.5% benign(0.002) tolerated(0.5) neutral(0.010) HMMPfam_DUF2146 VMP1 81671 genome.wustl.edu 37 17 57816225 57816225 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030938.3 +1 validated p.L111I 1.000 191 0% 236 39.8% 23 30.4% benign(0) tolerated(0.44) neutral(0.013) NULL TUBD1 51174 genome.wustl.edu 37 17 57944106 57944106 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016261.2 -1 validated p.I313 0.967 61 0% 146 40.4% 5 60% - - - superfamily_Tubulin C-terminal domain-like HEATR6 63897 genome.wustl.edu 37 17 58145059 58145059 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022070.4 -1 validated p.K325T 0.997 163 0% 147 38.1% 4 100% unknown(0) deleterious(0.02) - NULL HEATR6 63897 genome.wustl.edu 37 17 58151198 58151198 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022070.4 -1 validated p.S126L 0.998 62 0% 67 58.2% 3 33.3% probably_damaging(0.959) tolerated(0.15) deleterious(0.643) superfamily_ARM-type_fold USP32 84669 genome.wustl.edu 37 17 58259106 58259106 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032582.3 -1 validated p.S1376Y 1.000 63 0% 57 47.4% 27 55.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_UCH,superfamily_SSF54001 USP32 84669 genome.wustl.edu 37 17 58260600 58260600 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032582.3 -1 validated p.S1350L 0.293 67 0% 107 62.6% 22 63.6% benign(0) tolerated(0.23) neutral(0.042) HMMPfam_UCH,superfamily_SSF54001 INTS2 57508 genome.wustl.edu 37 17 59944758 59944758 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_026641.1 -1 validated NULL 1.000 7 0.000 25 0.520 7 71.4% - - - - INTS2 57508 genome.wustl.edu 37 17 59958518 59958518 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020748.2 -1 validated p.L710V 1.000 179 0% 93 49.5% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL INTS2 57508 genome.wustl.edu 37 17 59967158 59967158 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020748.2 -1 validated p.T666M 0.999 174 0% 145 39.3% 0 - benign(0.033) tolerated(0.32) neutral(0.026) NULL MED13 9969 genome.wustl.edu 37 17 60050218 60050218 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005121.2 -1 reviewed p.L1279 1.000 156 0% 122 36.1% 11 45.4% - - - HMMPfam_TRAP_240kDa MED13 9969 genome.wustl.edu 37 17 60060308 60060308 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005121.2 -1 reviewed p.R1019Q 0.998 123 0% 81 43.2% 7 42.8% probably_damaging(1) tolerated(0.4) deleterious(0.516) NULL MED13 9969 genome.wustl.edu 37 17 60062427 60062427 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005121.2 -1 reviewed p.G804R 1.000 210 0% 179 48.6% 1 100% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL TLK2 11011 genome.wustl.edu 37 17 60689916 60689916 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006852.3 +1 validated p.S748Y 1.000 73 0% 50 38% 29 37.9% unknown(0) - - superfamily_Kinase_like MARCH10 162333 genome.wustl.edu 37 17 60782906 60782906 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100875.1 -1 validated p.N789H 1.000 110 0% 242 43% 0 - possibly_damaging(0.906) deleterious(0) deleterious(0.804) NULL MARCH10 162333 genome.wustl.edu 37 17 60813420 60813420 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100875.1 -1 validated p.F603L 1.000 155 0% 99 36.4% 0 - possibly_damaging(0.631) deleterious(0) deleterious(0.665) NULL TANC2 26115 genome.wustl.edu 37 17 61428704 61428704 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025185.3 +1 validated p.S560L 1.000 131 0% 95 46.3% 4 25% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_P-loop containing nucleoside triphosphate hydrolases ACE 1636 genome.wustl.edu 37 17 61568597 61568597 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000789.2 +1 reviewed p.E923* 1.000 59 0% 46 50% 8 0% - - - "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" ICAM2 3384 genome.wustl.edu 37 17 62082729 62082729 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000873.3 -1 reviewed p.S22 0.050 28 0% 35 54.3% 8 75% - - - HMMPfam_ICAM_N ENSG00000232457 0 genome.wustl.edu 37 17 62950458 62950458 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000413214 +1 known p.V73I 0.016 68 0% 101 42.6% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RGS9 8787 genome.wustl.edu 37 17 63156987 63156987 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003835.3 +1 reviewed p.R128Q 1.000 608 0% 284 41.9% 0 - possibly_damaging(0.944) deleterious(0) deleterious(0.833) NULL CEP112 201134 genome.wustl.edu 37 17 64025310 64025310 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145036.3 -1 validated p.K478N 0.382 482 0% 233 49.4% 3 33.3% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) NULL CEP112 201134 genome.wustl.edu 37 17 64026032 64026032 + Missense_Mutation SNP C C A rs34347913 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145036.3 -1 validated p.R443I 1.000 309 0% 157 43.9% 3 66.6% probably_damaging(0.991) tolerated(0.11) deleterious(0.716) NULL CEP112 201134 genome.wustl.edu 37 17 64179372 64179372 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145036.3 -1 validated p.E16* 1.000 356 0% 226 40.7% 5 40% - - - NULL APOH 350 genome.wustl.edu 37 17 64212957 64212957 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000042.2 -1 reviewed p.E245* 0.992 297 0% 153 48.4% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module APOH 350 genome.wustl.edu 37 17 64224246 64224246 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000042.2 -1 reviewed p.E45* 0.998 570 0% 185 40% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module BPTF 2186 genome.wustl.edu 37 17 65889532 65889532 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182641.3 +1 reviewed p.K701T 1.000 68 0% 63 44.4% 4 25% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) NULL BPTF 2186 genome.wustl.edu 37 17 65905780 65905780 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182641.3 +1 reviewed p.P965 0.990 65 0% 80 32.5% 9 66.6% - - - NULL BPTF 2186 genome.wustl.edu 37 17 65942246 65942246 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182641.3 +1 reviewed p.Q2474H 0.989 175 0% 57 38.6% 5 60% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL BPTF 2186 genome.wustl.edu 37 17 65955882 65955882 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182641.3 +1 reviewed p.D2718Y 0.843 59 0% 68 45.6% 31 48.3% possibly_damaging(0.924) deleterious(0.04) deleterious(0.722) NULL SLC16A6 9120 genome.wustl.edu 37 17 66265260 66265260 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004694.4 -1 validated p.H517N 0.003 233 0% 147 29.3% 0 - benign(0.012) deleterious(0.03) neutral(0.365) NULL SLC16A6 9120 genome.wustl.edu 37 17 66267469 66267469 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004694.4 -1 validated p.E278K 0.000 93 0% 160 41.2% 1 0% benign(0.017) tolerated(0.46) neutral(0.013) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ARSG 22901 genome.wustl.edu 37 17 66303840 66303840 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014960.3 +1 validated p.S69L 0.454 45 0% 119 45.4% 2 0% benign(0) tolerated(0.22) neutral(0.042) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSG 22901 genome.wustl.edu 37 17 66381269 66381269 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014960.3 +1 validated p.W349* 1.000 105 0% 43 51.2% 1 100% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core FAM20A 54757 genome.wustl.edu 37 17 66538872 66538872 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017565.3 -1 validated p.K297N 1.000 346 0% 202 46% 4 0% benign(0.261) tolerated(0.34) neutral(0.050) NULL ABCA8 10351 genome.wustl.edu 37 17 66890330 66890330 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007168.2 -1 reviewed p.R967K 0.509 62 0% 44 45.5% 1 0% possibly_damaging(0.796) tolerated(0.21) neutral(0.343) NULL ABCA9 10350 genome.wustl.edu 37 17 66985205 66985205 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080283.3 -1 reviewed p.K1337T 0.996 1013 0% 193 43% 0 - benign(0.366) tolerated(0.11) neutral(0.388) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA9 10350 genome.wustl.edu 37 17 67004239 67004239 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080283.3 -1 reviewed p.E1095D 0.000 71 0% 74 47.3% 0 - benign(0) tolerated(0.43) neutral(0.013) NULL ABCA9 10350 genome.wustl.edu 37 17 67014665 67014665 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080283.3 -1 reviewed p.E886K 0.000 182 0% 52 42.3% 0 - benign(0) tolerated(1) - NULL ABCA9 10350 genome.wustl.edu 37 17 67028402 67028402 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080283.3 -1 reviewed p.R431Q 0.000 142 0% 37 48.6% 1 0% benign(0.009) tolerated(0.34) neutral(0.024) NULL ABCA9 10350 genome.wustl.edu 37 17 67031864 67031864 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080283.3 -1 reviewed p.Q293H 0.000 108 0% 26 38.5% 0 - benign(0.02) tolerated(0.14) neutral(0.251) NULL ABCA6 23460 genome.wustl.edu 37 17 67101694 67101694 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080284.2 -1 reviewed p.I883 0.000 193 0% 66 40.9% 0 - - - - NULL ABCA6 23460 genome.wustl.edu 37 17 67132143 67132143 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000420289 -1 known p.D184Y 0.000 33 0% 23 52.2% 0 - - - - NULL ABCA10 10349 genome.wustl.edu 37 17 67212046 67212046 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080282.3 -1 reviewed p.G256 0.978 35 0% 36 55.6% 0 - - - - NULL ABCA10 10349 genome.wustl.edu 37 17 67217935 67217935 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080282.3 -1 reviewed p.E101* 1.000 134 0.7% 35 34.3% 0 - - - - NULL ABCA5 23461 genome.wustl.edu 37 17 67251940 67251940 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018672.3 -1 reviewed p.D1304Y 1.000 39 0% 51 37.3% 2 50% benign(0.234) deleterious(0.01) neutral(0.429) superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA5 23461 genome.wustl.edu 37 17 67257811 67257811 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018672.3 -1 reviewed p.N1132H 0.999 24 0% 17 41.2% 2 0% possibly_damaging(0.886) tolerated(0.08) deleterious(0.646) NULL ABCA5 23461 genome.wustl.edu 37 17 67267407 67267407 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018672.3 -1 reviewed p.S930R 1.000 251 0% 103 35.9% 3 33.3% benign(0) tolerated(0.23) neutral(0.042) NULL ABCA5 23461 genome.wustl.edu 37 17 67293434 67293434 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018672.3 -1 reviewed p.R445I 1.000 101 0% 84 34.5% 0 - benign(0.253) tolerated(0.05) neutral(0.371) NULL ABCA5 23461 genome.wustl.edu 37 17 67298916 67298916 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018672.3 -1 reviewed p.S354 0.038 97 0% 46 37% 5 40% - - - NULL ABCA5 23461 genome.wustl.edu 37 17 67300938 67300938 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018672.3 -1 reviewed p.L268I 1.000 80 0% 41 26.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCA5 23461 genome.wustl.edu 37 17 67305500 67305500 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018672.3 -1 reviewed p.S124R 0.132 165 0% 62 53.2% 2 50% benign(0) tolerated(0.46) neutral(0.012) NULL MAP2K6 5608 genome.wustl.edu 37 17 67532264 67532264 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002758.3 +1 reviewed p.K297T 1.000 106 0% 52 55.8% 151 47% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SSTR2 6752 genome.wustl.edu 37 17 71166476 71166476 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001050.2 +1 reviewed p.R340W 0.959 70 0% 73 47.9% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_Family A G protein-coupled receptor-like FAM104A 84923 genome.wustl.edu 37 17 71205896 71205896 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098832.1 -1 validated p.S132 0.998 35 0% 24 41.7% 35 45.7% - - - NULL SDK2 54549 genome.wustl.edu 37 17 71335062 71335062 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144952.1 -1 provisional p.Y2061 0.996 588 0% 185 40.5% 1 0% - - - NULL SDK2 54549 genome.wustl.edu 37 17 71346397 71346397 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144952.1 -1 provisional p.R2006Q 0.997 95 0% 36 41.7% 0 - possibly_damaging(0.853) deleterious(0.05) deleterious(0.674) NULL SDK2 54549 genome.wustl.edu 37 17 71357901 71357901 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144952.1 -1 provisional p.Y1797H 1.000 114 0% 30 40% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DNAI2 64446 genome.wustl.edu 37 17 72283118 72283118 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023036.4 +1 reviewed p.I116 1.000 117 0% 67 50.7% 0 - - - - NULL GPR142 350383 genome.wustl.edu 37 17 72368462 72368462 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181790.1 +1 provisional p.A371V 1.000 87 0% 48 91.7% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_7tm_1,superfamily_SSF81321 LOC100289576 100289576 genome.wustl.edu 37 17 72440122 72440122 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343581.1 -1 model p.F32C 0.003 59 0% 67 44.8% 0 - - - - NULL CD300C 10871 genome.wustl.edu 37 17 72540854 72540854 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006678.3 -1 provisional p.E98D 0.125 380 0% 124 48.4% 4 0% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 GRIN2C 2905 genome.wustl.edu 37 17 72846416 72846416 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000835.3 -1 reviewed p.D474N 1.000 14 0% 20 50% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00079,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like II OTOP2 92736 genome.wustl.edu 37 17 72927220 72927220 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178160.2 +1 validated p.S497Y 1.000 41 0% 63 41.3% 0 - benign(0.013) deleterious(0.01) neutral(0.406) NULL OTOP3 347741 genome.wustl.edu 37 17 72939738 72939738 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178233.1 +1 provisional p.L242M 1.000 102 0% 58 50% 0 - benign(0.091) tolerated(0.19) neutral(0.056) NULL CDR2L 30850 genome.wustl.edu 37 17 72998268 72998268 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014603.2 +1 validated p.R151C 0.998 24 0% 19 47.4% 48 56.2% possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) NULL NT5C 30833 genome.wustl.edu 37 17 73127325 73127325 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014595.1 -1 provisional p.P76S 1.000 27 0% 34 35.3% 32 37.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_NT5C,superfamily_HAD-like SLC25A19 60386 genome.wustl.edu 37 17 73279609 73279609 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001126121.1 -1 reviewed p.F118L 0.956 26 0% 26 46.2% 15 46.6% benign(0.008) tolerated(0.66) neutral(0.003) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr MRPL38 64978 genome.wustl.edu 37 17 73895623 73895623 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032478.3 -1 reviewed p.F281L 0.900 12 0% 45 48.9% 76 27.6% benign(0.13) tolerated(0.45) neutral(0.023) HMMPfam_PBP,superfamily_PEBP QRICH2 84074 genome.wustl.edu 37 17 74289248 74289248 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032134.1 -1 provisional p.V354 0.000 74 0% 63 46% 3 66.6% - - - NULL PRPSAP1 5635 genome.wustl.edu 37 17 74309931 74309931 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002766.2 -1 validated p.D275Y 1.000 105 0% 78 39.7% 41 31.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pribosyltran,superfamily_PRTase-like ST6GALNAC2 10610 genome.wustl.edu 37 17 74562296 74562296 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006456.2 -1 validated p.E339K 0.997 50 0% 189 48.1% 1 100% possibly_damaging(0.649) deleterious(0.01) deleterious(0.634) HMMPfam_Glyco_transf_29 MFSD11 79157 genome.wustl.edu 37 17 74774312 74774312 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024311.2 +1 provisional p.L410F 1.000 437 0% 355 47% 14 35.7% benign(0.033) tolerated(0.18) neutral(0.058) superfamily_MFS general substrate transporter SEC14L1 6397 genome.wustl.edu 37 17 75190773 75190773 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039573.2 +1 reviewed p.I163 0.067 134 0% 82 40.2% 32 34.3% - - - HMMPfam_PRELI SEPT9 10801 genome.wustl.edu 37 17 75398150 75398150 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113491.1 +1 reviewed p.R29I 1.000 33 0% 33 30.3% 72 31.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH17 8632 genome.wustl.edu 37 17 76451914 76451914 + Missense_Mutation SNP C C G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000389840 -1 known p.V3314L 0.989 30 0% 43 44.2% 0 - benign(0.333) deleterious(0) deleterious(0.549) NULL DNAH17 8632 genome.wustl.edu 37 17 76570846 76570846 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000389840 -1 known p.Y98 0.014 148 0% 130 44.6% 0 - - - - NULL CYTH1 9267 genome.wustl.edu 37 17 76694959 76694959 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004762.2 -1 reviewed p.F214L 1.000 243 0% 94 52.1% 16 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain USP36 57602 genome.wustl.edu 37 17 76825008 76825008 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025090.3 -1 validated p.K186T 1.000 66 0% 33 60.6% 9 66.6% probably_damaging(0.997) tolerated(0.05) deleterious(0.811) HMMPfam_UCH,superfamily_SSF54001 LGALS3BP 3959 genome.wustl.edu 37 17 76967757 76967757 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005567.3 -1 reviewed p.S553 0.003 26 0% 39 43.6% 380 28.6% - - - NULL ENGASE 64772 genome.wustl.edu 37 17 77080653 77080653 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042573.1 +1 validated p.K492N 0.000 24 0% 76 51.3% 5 20% benign(0.019) tolerated(0.28) neutral(0.033) NULL GAA 2548 genome.wustl.edu 37 17 78078488 78078488 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000152.3 +1 reviewed p.F35V 0.000 10 0% 15 46.7% 13 69.2% benign(0.003) tolerated(0.22) neutral(0.042) NULL RNF213 57674 genome.wustl.edu 37 17 78263500 78263500 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020954.2 +1 validated p.E326* 0.000 50 0% 98 43.9% 4 0% - - - NULL RNF213 57674 genome.wustl.edu 37 17 78310129 78310129 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000508628 +1 known p.K1493R 0.000 109 0% 56 51.8% 4 75% benign(0.132) tolerated(0.35) neutral(0.032) NULL RNF213 57674 genome.wustl.edu 37 17 78343456 78343456 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000508628 +1 known p.R4104 0.000 138 0.7% 110 53.6% 12 0% - - - NULL ENDOV 284131 genome.wustl.edu 37 17 78397381 78397381 + Missense_Mutation SNP G G T rs114008153 byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173627.3 +1 validated p.K155N 1.000 23 0% 46 37% 4 50% - - - HMMPfam_Endonuclease_5 ENDOV 284131 genome.wustl.edu 37 17 78403579 78403579 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173627.3 +1 validated p.P262 0.276 13 0% 17 35.3% 1 0% - - - NULL RPTOR 57521 genome.wustl.edu 37 17 78704479 78704479 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020761.2 +1 reviewed p.F209 0.301 178 0% 38 44.7% 9 33.3% - - - NULL BAIAP2 10458 genome.wustl.edu 37 17 79031768 79031768 + Splice_Site SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017451.2 +1 reviewed e3+1 1.000 6 0.000 11 0.545 1 100% - - - - BAHCC1 57597 genome.wustl.edu 37 17 79427566 79427566 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080519.2 +1 inferred p.L1957I 1.000 13 0% 12 50% 0 - - - - NULL C17orf70 80233 genome.wustl.edu 37 17 79517623 79517623 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025161.5 -1 validated p.E148D 0.000 4 0.000 19 0.474 20 20% benign(0.124) tolerated(0.62) neutral(0.014) NULL P4HB 5034 genome.wustl.edu 37 17 79803535 79803535 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000918.3 -1 reviewed p.V421I 0.360 36 0% 99 37.4% 1794 45.5% benign(0.015) tolerated(0.7) neutral(0.003) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin ALYREF 10189 genome.wustl.edu 37 17 79847092 79847092 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005782.3 -1 reviewed p.K161N 0.937 38 0% 50 46% 470 47% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 CD7 924 genome.wustl.edu 37 17 80273278 80273278 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006137.6 -1 reviewed p.K214N 0.002 22 0% 26 42.3% 5 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL WDR45L 56270 genome.wustl.edu 37 17 80574407 80574407 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019613.3 -1 reviewed p.A307 0.140 99 0% 76 42.1% 155 49% - - - superfamily_WD40 repeat-like FN3K 64122 genome.wustl.edu 37 17 80708415 80708415 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022158.3 +1 validated p.F238L 1.000 34 0% 38 52.6% 63 39.6% possibly_damaging(0.854) deleterious(0.01) deleterious(0.735) superfamily_Kinase_like,HMMPfam_Fructosamin_kin ZNF750 79755 genome.wustl.edu 37 17 80788991 80788991 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024702.2 -1 reviewed p.P447L 0.000 83 0% 51 58.8% 1 100% benign(0) tolerated(0.14) neutral(0.249) NULL ENOSF1 55556 genome.wustl.edu 37 18 697305 697305 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_202758.2 -1 validated p.K103E 0.001 96 0% 99 36.4% 33 33.3% benign(0) tolerated(1) - HMMPfam_MR_MLE_N,superfamily_SSF54826 LOC441806 441806 genome.wustl.edu 37 18 856669 856669 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344135.1 +1 model p.R19H 1.000 58 0% 21 38.1% 0 - - - - HMMPfam_SAC3_GANP METTL4 64863 genome.wustl.edu 37 18 2563854 2563854 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022840.3 -1 validated p.R134L 0.986 294 0% 182 42.3% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SMCHD1 23347 genome.wustl.edu 37 18 2722530 2722530 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015295.2 +1 validated p.E824D 0.987 377 0% 197 36% 8 62.5% possibly_damaging(0.808) tolerated(0.46) neutral(0.316) NULL SMCHD1 23347 genome.wustl.edu 37 18 2784502 2784502 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015295.2 +1 validated p.R1868* 1.000 83 0% 51 47.1% 20 25% - - - superfamily_Smc hinge domain EMILIN2 84034 genome.wustl.edu 37 18 2892402 2892402 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032048.2 +1 validated p.K759N 1.000 54 0% 56 33.9% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL LPIN2 9663 genome.wustl.edu 37 18 2921630 2921630 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014646.2 -1 reviewed p.K781N 1.000 62 0% 112 44.6% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LNS2,HMMSmart_LNS2,superfamily_SSF56784 MYOM1 8736 genome.wustl.edu 37 18 3142039 3142039 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003803.3 -1 reviewed p.P641 0.999 58 0% 24 50% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DLGAP1 9229 genome.wustl.edu 37 18 3582087 3582087 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004746.2 -1 provisional p.S584Y 1.000 509 0.2% 199 52.3% 2 0% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL ZFP161 7541 genome.wustl.edu 37 18 5291055 5291055 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143823.1 -1 validated p.R384S 0.972 176 0% 144 36.8% 31 67.7% benign(0.116) tolerated(0.14) neutral(0.259) superfamily_SSF57667 EPB41L3 23136 genome.wustl.edu 37 18 5438079 5438079 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012307.2 -1 provisional p.K187T 1.000 226 0% 174 47.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_N,PatternScan_FERM_1,HMMSmart_SM00295,superfamily_Ubiquitin-like L3MBTL4 91133 genome.wustl.edu 37 18 6080934 6080934 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173464.3 -1 validated p.K464Q 1.000 331 0% 137 36.5% 1 0% possibly_damaging(0.537) tolerated(0.17) neutral(0.240) NULL ARHGAP28 79822 genome.wustl.edu 37 18 6882179 6882179 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010000.1 +1 validated p.F286C 1.000 294 0% 174 45.4% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP LAMA1 284217 genome.wustl.edu 37 18 6947197 6947197 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005559.2 -1 validated p.V2937L 1.000 124 0% 49 59.2% 16 25% possibly_damaging(0.881) tolerated(0.25) neutral(0.381) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1 LAMA1 284217 genome.wustl.edu 37 18 6973065 6973065 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005559.2 -1 validated p.G2255 0.991 329 0% 249 43.8% 7 0% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1 PTPRM 5797 genome.wustl.edu 37 18 7926607 7926607 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105244.1 +1 reviewed p.N197D 1.000 216 0% 51 29.4% 10 20% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) HMMSmart_SM00409,superfamily_Immunoglobulin PTPRM 5797 genome.wustl.edu 37 18 8076502 8076502 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105244.1 +1 reviewed p.E497D 1.000 194 0% 51 43.1% 8 0% benign(0.007) tolerated(1) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PPP4R1 9989 genome.wustl.edu 37 18 9563405 9563405 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042388.1 -1 validated p.S573A 0.364 281 0% 182 48.9% 52 46.1% benign(0.001) tolerated(0.1) neutral(0.286) superfamily_ARM repeat TXNDC2 84203 genome.wustl.edu 37 18 9886801 9886801 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098529.1 +1 validated p.E109* 0.000 337 0% 115 47% 0 - - - - NULL TXNDC2 84203 genome.wustl.edu 37 18 9887679 9887679 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098529.1 +1 validated p.E401 0.000 274 0% 165 43% 0 - - - - NULL PIEZO2 63895 genome.wustl.edu 37 18 10680239 10680239 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000503781 -1 known p.P418T 0.030 478 0% 233 46.8% 0 - benign(0) tolerated(0.56) neutral(0.006) NULL PIEZO2 63895 genome.wustl.edu 37 18 10689712 10689712 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000503781 -1 known p.C324G 1.000 144 0% 37 32.4% 0 - probably_damaging(0.99) tolerated(0.16) deleterious(0.501) NULL ENSG00000175388 0 genome.wustl.edu 37 18 10761037 10761037 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000383408 -1 known p.R371* 0.997 81 0% 66 30.3% 0 - - - - NULL ENSG00000175388 0 genome.wustl.edu 37 18 10762938 10762938 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000383408 -1 known p.F298L 1.000 106 0% 78 43.6% 0 - possibly_damaging(0.666) deleterious(0.02) deleterious(0.619) NULL ENSG00000175388 0 genome.wustl.edu 37 18 10763065 10763065 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000383408 -1 known p.S256Y 1.000 79 1.3% 69 46.4% 0 - benign(0.303) deleterious(0.04) neutral(0.443) NULL GNAL 2774 genome.wustl.edu 37 18 11753891 11753891 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182978.2 +1 validated p.R191* 1.000 209 0% 294 47.3% 0 - - - - HMMPfam_G-alpha,superfamily_Transducn_insert,superfamily_SSF52540 MPPE1 65258 genome.wustl.edu 37 18 11889488 11889488 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023075.4 -1 validated p.A131D 1.000 91 0% 96 15.6% 34 11.7% benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases IMPA2 3613 genome.wustl.edu 37 18 11999051 11999051 + Splice_Site SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014214.1 +1 validated e2-2 0.995 171 0% 135 43.7% 0 - - - - - CEP76 79959 genome.wustl.edu 37 18 12701088 12701088 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024899.2 -1 provisional p.E30* 1.000 121 0% 177 46.3% 9 55.5% - - - NULL SEH1L 81929 genome.wustl.edu 37 18 12984160 12984160 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013437.1 +1 reviewed p.Q347 1.000 106 0% 193 42.5% 46 41.3% - - - NULL CEP192 55125 genome.wustl.edu 37 18 13069848 13069848 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032142.3 +1 validated p.E1127K 0.989 123 0% 72 52.8% 7 14.2% possibly_damaging(0.448) tolerated(0.07) neutral(0.466) NULL CEP192 55125 genome.wustl.edu 37 18 13092456 13092456 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032142.3 +1 validated p.E1466* 1.000 343 0% 158 47.5% 7 14.2% - - - NULL CEP192 55125 genome.wustl.edu 37 18 13092465 13092465 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032142.3 +1 validated p.D1469Y 0.715 351 0% 156 35.3% 8 87.5% benign(0.006) tolerated(0.06) neutral(0.323) NULL CEP192 55125 genome.wustl.edu 37 18 13099491 13099491 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032142.3 +1 validated p.L1596I 1.000 231 0% 233 48.5% 9 88.8% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL C18orf1 753 genome.wustl.edu 37 18 13645228 13645228 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181481.3 +1 validated p.E165K 1.000 82 0% 48 27.1% 0 - possibly_damaging(0.72) deleterious(0.02) deleterious(0.644) NULL NF1P5 4768 genome.wustl.edu 37 18 14156235 14156235 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000418350 -1 known p.I88S 0.011 9 0.000 42 0.405 0 - - - - NULL LOC729774 729774 genome.wustl.edu 37 18 14361614 14361614 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001131264.2 -1 model p.N122S 0.027 73 0% 18 66.7% 1 0% - - - NULL LOC729774 729774 genome.wustl.edu 37 18 14361617 14361617 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001131264.2 -1 model p.S121N 0.010 71 0% 20 35% 0 - - - - NULL LOC646359 646359 genome.wustl.edu 37 18 14377800 14377800 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_929288.3 -1 model p.R321 0.408 14 0% 46 47.8% 6 0% - - - NULL LOC646359 646359 genome.wustl.edu 37 18 14377904 14377904 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_929288.3 -1 model p.L287I 0.852 28 0% 75 46.7% 0 - - - - NULL LOC646359 646359 genome.wustl.edu 37 18 14378050 14378050 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_929288.3 -1 model p.S238* 0.972 31 0% 92 39.1% 3 0% - - - HMMPfam_TRF,superfamily_Telomeric repeat binding factor (TRF) dimerisation domain POTEC 388468 genome.wustl.edu 37 18 14530524 14530524 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137671.1 -1 validated p.E362* 0.038 83 0% 61 31.1% 0 - - - - HMMSmart_SM00248,superfamily_Ankyrin repeat POTEC 388468 genome.wustl.edu 37 18 14537853 14537853 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137671.1 -1 validated p.L253V 0.113 478 0% 348 39.1% 0 - benign(0.361) tolerated(0.28) neutral(0.146) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POTEC 388468 genome.wustl.edu 37 18 14542891 14542891 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001137671.1 -1 validated p.D85 0.015 126 0% 147 25.9% 0 - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14778044 14778044 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145029.1 +1 validated p.D464Y 0.020 71 0% 88 48.9% 0 - unknown(0) deleterious(0) - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14782572 14782572 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145029.1 +1 validated p.S510F 0.000 63 0% 113 53.1% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14797803 14797803 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145029.1 +1 validated p.S660Y 0.002 196 0% 298 46.6% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14850242 14850242 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145029.1 +1 validated p.R1023I 0.999 28 0% 51 43.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ROCK1 6093 genome.wustl.edu 37 18 18564337 18564337 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005406.2 -1 reviewed p.E822* 1.000 390 0% 187 44.4% 4 50% - - - NULL ROCK1 6093 genome.wustl.edu 37 18 18566915 18566915 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005406.2 -1 reviewed p.D767G 1.000 217 0% 152 34.9% 3 33.3% benign(0.042) deleterious(0.01) neutral(0.408) NULL ROCK1 6093 genome.wustl.edu 37 18 18595406 18595406 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005406.2 -1 reviewed p.E466* 1.000 333 0% 386 43.3% 4 25% - - - HMMPfam_HR1 GREB1L 80000 genome.wustl.edu 37 18 18981185 18981185 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142966.1 +1 provisional p.L203V 1.000 216 0% 101 38.6% 1 100% unknown(0) deleterious(0) - NULL ESCO1 114799 genome.wustl.edu 37 18 19110415 19110415 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052911.2 -1 validated p.E804 1.000 31 0% 34 52.9% 14 35.7% - - - NULL RBBP8 5932 genome.wustl.edu 37 18 20576369 20576369 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002894.2 +1 reviewed p.D658Y 1.000 80 0% 128 53.1% 44 47.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CABLES1 91768 genome.wustl.edu 37 18 20774445 20774445 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001100619.2 +1 validated p.K317N 1.000 117 0% 124 40.3% 19 63.1% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL RIOK3 8780 genome.wustl.edu 37 18 21042959 21042959 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003831.3 +1 reviewed p.S32Y 1.000 203 0% 145 37.2% 14 35.7% possibly_damaging(0.849) deleterious(0.03) deleterious(0.691) NULL NPC1 4864 genome.wustl.edu 37 18 21134925 21134925 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000271.4 -1 reviewed p.I450 0.981 114 0% 65 52.3% 4 75% - - - HMMPfam_Patched LAMA3 3909 genome.wustl.edu 37 18 21330988 21330988 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198129.1 +1 reviewed p.R264I 0.998 198 0% 75 42.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_N,HMMSmart_SM00136 LAMA3 3909 genome.wustl.edu 37 18 21413848 21413848 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198129.1 +1 reviewed p.V960 0.000 191 0% 47 40.4% 4 0% - - - NULL LAMA3 3909 genome.wustl.edu 37 18 21419776 21419776 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198129.1 +1 reviewed p.E1073D 0.996 154 0% 65 49.2% 6 16.6% benign(0.003) tolerated(0.54) neutral(0.007) NULL LAMA3 3909 genome.wustl.edu 37 18 21483939 21483939 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198129.1 +1 reviewed p.E2121* 0.978 84 0% 78 47.4% 6 33.3% - - - NULL LAMA3 3909 genome.wustl.edu 37 18 21508609 21508609 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198129.1 +1 reviewed p.F2772L 1.000 231 0% 60 40% 15 73.3% benign(0.109) deleterious(0) neutral(0.453) superfamily_Concanavalin A-like lectins/glucanases ZNF521 25925 genome.wustl.edu 37 18 22775134 22775134 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015461.2 -1 validated p.N1216 1.000 160 0% 29 37.9% 2 50% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CHST9 83539 genome.wustl.edu 37 18 24496989 24496989 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031422.4 -1 validated p.Y189F 0.898 317 0.6% 89 41.6% 2 0% probably_damaging(0.983) tolerated(0.18) deleterious(0.485) HMMPfam_Sulfotransfer_2 CDH2 1000 genome.wustl.edu 37 18 25589736 25589736 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001792.3 -1 reviewed p.S216L 1.000 130 0% 15 33.3% 21 47.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC3 1825 genome.wustl.edu 37 18 28584186 28584186 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001941.3 -1 reviewed p.A679T 0.000 214 0% 56 44.6% 1 0% benign(0.069) tolerated(0.6) neutral(0.009) superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28712575 28712575 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024421.2 -1 reviewed p.N732D 1.000 233 0% 115 14.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DSC1 1823 genome.wustl.edu 37 18 28728491 28728491 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024421.2 -1 reviewed p.I248L 0.000 408 0% 115 41.7% 0 - benign(0.001) tolerated(0.39) neutral(0.016) HMMPfam_Cadherin,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28906914 28906914 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001942.2 +1 reviewed p.F54 0.656 71 0% 28 67.9% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28911802 28911802 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001942.2 +1 reviewed p.R219Q 0.989 63 0% 33 48.5% 0 - possibly_damaging(0.829) tolerated(0.26) neutral(0.349) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28925994 28925994 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001942.2 +1 reviewed p.L645M 0.001 206 0% 89 39.3% 0 - benign(0.013) tolerated(0.24) neutral(0.038) HMMPfam_Cadherin_C DSG4 147409 genome.wustl.edu 37 18 28968937 28968937 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134453.1 +1 reviewed p.S158L 0.861 96 0% 30 40% 0 - possibly_damaging(0.551) deleterious(0.01) deleterious(0.593) superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29039837 29039837 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001944.2 +1 reviewed p.D183Y 1.000 146 0% 30 53.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29041235 29041235 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001944.2 +1 reviewed p.R287* 0.708 145 0% 73 37% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin DSG2 1829 genome.wustl.edu 37 18 29102127 29102127 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001943.3 +1 reviewed p.S202Y 0.826 134 0% 112 46.4% 34 55.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DSG2 1829 genome.wustl.edu 37 18 29118764 29118764 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001943.3 +1 reviewed p.I568L 0.942 269 0% 96 41.7% 55 45.4% benign(0.022) tolerated(0.32) neutral(0.025) superfamily_Cadherin TRAPPC8 22878 genome.wustl.edu 37 18 29477804 29477804 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014939.3 -1 validated p.K514T 1.000 112 0% 90 11.1% 20 15% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_TPR-like TRAPPC8 22878 genome.wustl.edu 37 18 29489639 29489639 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014939.3 -1 validated p.E286K 1.000 97 0% 118 44.9% 8 75% benign(0.012) tolerated(0.49) neutral(0.011) NULL MEP1B 4225 genome.wustl.edu 37 18 29772749 29772749 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005925.2 +1 validated p.D47A 1.000 430 0% 205 48.3% 0 - possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) NULL C18orf34 374864 genome.wustl.edu 37 18 30672809 30672809 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105528.1 -1 validated p.I768M 0.000 77 0% 50 48% 0 - benign(0.012) tolerated(0.17) neutral(0.059) NULL ASXL3 80816 genome.wustl.edu 37 18 31314329 31314329 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030632.1 +1 provisional p.K344N 1.000 58 0% 61 42.6% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL ASXL3 80816 genome.wustl.edu 37 18 31319405 31319405 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030632.1 +1 provisional p.E679D 0.965 137 0% 78 46.2% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL ASXL3 80816 genome.wustl.edu 37 18 31320304 31320304 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030632.1 +1 provisional p.R979I 1.000 44 0% 40 45% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ASXL3 80816 genome.wustl.edu 37 18 31324730 31324730 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030632.1 +1 provisional p.K1640Q 0.640 49 0% 47 51.1% 0 - benign(0.009) deleterious(0) neutral(0.445) NULL ASXL3 80816 genome.wustl.edu 37 18 31325754 31325754 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030632.1 +1 provisional p.P1981L 0.998 37 0% 18 77.8% 0 - benign(0.395) deleterious(0) deleterious(0.572) NULL NOL4 8715 genome.wustl.edu 37 18 31538258 31538258 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003787.3 -1 validated p.S394L 0.980 322 0% 44 47.7% 0 - benign(0.032) deleterious(0.01) neutral(0.407) NULL ZSCAN30 100101467 genome.wustl.edu 37 18 32833853 32833853 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112734.2 -1 validated p.R349I 1.000 139 0% 98 44.9% 11 72.7% probably_damaging(0.988) tolerated(0.12) deleterious(0.698) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN30 100101467 genome.wustl.edu 37 18 32834184 32834184 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001112734.2 -1 validated p.K239Q 0.000 247 0% 126 42.9% 9 44.4% benign(0.026) tolerated(0.5) neutral(0.011) NULL ZNF396 252884 genome.wustl.edu 37 18 32948372 32948372 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145756.2 -1 validated p.K315N 0.002 101 0% 79 83.5% 1 0% possibly_damaging(0.952) - - NULL ZNF396 252884 genome.wustl.edu 37 18 32949578 32949578 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145756.2 -1 validated p.K203N 0.016 217 0% 180 47.2% 5 60% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) NULL C18orf21 83608 genome.wustl.edu 37 18 33558858 33558858 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031446.3 +1 validated p.K184N 1.000 102 0% 132 41.7% 30 56.6% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL SLC39A6 25800 genome.wustl.edu 37 18 33702064 33702064 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012319.3 -1 validated p.V437A 1.000 204 0% 174 40.2% 40 47.5% benign(0.004) tolerated(0.31) neutral(0.027) HMMPfam_Zip FHOD3 80206 genome.wustl.edu 37 18 34261521 34261521 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025135.2 +1 validated p.R478I 1.000 321 0% 102 39.2% 4 25% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL PIK3C3 5289 genome.wustl.edu 37 18 39535271 39535271 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002647.2 +1 validated p.E5D 0.999 124 0% 78 43.6% 3 0% benign(0) tolerated(1) - NULL PIK3C3 5289 genome.wustl.edu 37 18 39620682 39620682 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002647.2 +1 validated p.L694I 1.000 273 0% 150 45.3% 15 73.3% benign(0.4) tolerated(0.26) neutral(0.163) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like SETBP1 26040 genome.wustl.edu 37 18 42449204 42449204 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015559.2 +1 validated p.A166T 1.000 208 0% 65 52.3% 4 50% benign(0.022) tolerated(0.55) neutral(0.008) NULL SETBP1 26040 genome.wustl.edu 37 18 42529989 42529989 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015559.2 +1 validated p.S228 0.953 123 0% 30 33.3% 3 66.6% - - - NULL SLC14A1 6563 genome.wustl.edu 37 18 43319138 43319138 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128588.3 +1 reviewed p.S281Y 0.980 104 0% 55 45.5% 5 0% benign(0.061) deleterious(0.02) neutral(0.387) HMMPfam_UT EPG5 57724 genome.wustl.edu 37 18 43437926 43437926 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020964.2 -1 validated p.R2445Q 0.986 92 0% 42 50% 11 27.2% possibly_damaging(0.764) tolerated(0.34) neutral(0.306) NULL EPG5 57724 genome.wustl.edu 37 18 43459134 43459134 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020964.2 -1 validated p.R1905W 1.000 66 0% 91 45.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EPG5 57724 genome.wustl.edu 37 18 43467725 43467725 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020964.2 -1 validated p.I1700 1.000 203 0% 88 46.6% 4 50% - - - NULL EPG5 57724 genome.wustl.edu 37 18 43523231 43523231 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020964.2 -1 validated p.I613M 1.000 509 0% 203 48.8% 2 0% probably_damaging(0.955) tolerated(0.09) deleterious(0.695) NULL ATP5A1 498 genome.wustl.edu 37 18 43669872 43669872 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001937.1 -1 reviewed p.T134A 1.000 229 0% 123 38.2% 575 44.1% benign(0.368) deleterious(0.01) deleterious(0.523) HMMPfam_ATP-synt_ab_N,superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase ATP5A1 498 genome.wustl.edu 37 18 43671662 43671662 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001937.1 -1 reviewed p.S99P 1.000 60 0% 54 38.9% 494 53.8% possibly_damaging(0.634) tolerated(0.51) neutral(0.231) HMMPfam_ATP-synt_ab_N,superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase ATP5A1 498 genome.wustl.edu 37 18 43675021 43675021 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001937.1 -1 reviewed p.T46N 0.998 79 0% 144 43.1% 285 51.5% benign(0.03) tolerated(0.15) neutral(0.242) NULL RNF165 494470 genome.wustl.edu 37 18 44035937 44035937 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152470.2 +1 validated p.R273* 1.000 229 0% 98 45.9% 0 - - - - superfamily_SSF57850 LOXHD1 125336 genome.wustl.edu 37 18 44065104 44065104 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145472.2 -1 reviewed p.I909 0.987 217 0% 95 49.5% 1 0% - - - HMMPfam_PLAT,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) LOXHD1 125336 genome.wustl.edu 37 18 44102106 44102106 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144612.6 -1 reviewed p.F1403L 0.993 146 0% 38 36.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44102261 44102261 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144612.6 -1 reviewed p.Y1352H 1.000 90 0% 43 32.6% 0 - benign(0.001) tolerated(0.56) neutral(0.006) superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44114381 44114381 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144612.6 -1 reviewed p.R1099W 1.000 410 0% 129 34.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PLAT,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44137395 44137395 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144612.6 -1 reviewed p.R814C 1.000 544 0% 140 43.6% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44137401 44137401 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144612.6 -1 reviewed p.R812W 0.998 557 0.2% 145 38.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44140268 44140268 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144612.6 -1 reviewed p.D669N 0.434 160 0% 69 36.2% 0 - benign(0.039) deleterious(0.02) neutral(0.385) NULL TCEB3B 51224 genome.wustl.edu 37 18 44559623 44559623 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016427.2 -1 reviewed p.E671D 0.000 57 0% 79 39.2% 0 - benign(0.247) tolerated(0.12) neutral(0.286) NULL KATNAL2 83473 genome.wustl.edu 37 18 44589421 44589421 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031303.2 +1 validated p.D138N 0.284 161 0% 44 40.9% 0 - benign(0) tolerated(0.67) neutral(0.003) NULL SMAD2 4087 genome.wustl.edu 37 18 45371763 45371763 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003652.2 -1 reviewed p.R410 1.000 58 0% 49 14.3% 93 19.3% - - - HMMPfam_MH2,HMMSmart_SM00524,superfamily_SMAD/FHA domain DYM 54808 genome.wustl.edu 37 18 46690089 46690089 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017653.3 -1 reviewed p.S510L 0.999 140 0% 54 46.3% 72 43% benign(0.012) tolerated(0.3) neutral(0.029) HMMPfam_Dymeclin RPL17 6139 genome.wustl.edu 37 18 47017915 47017915 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000985.3 -1 reviewed p.E9D 1.000 372 0% 319 46.4% 1633 47.6% benign(0.002) tolerated(0.52) neutral(0.009) superfamily_Ribosomal protein L22 MYO5B 4645 genome.wustl.edu 37 18 47389647 47389647 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080467.2 -1 reviewed p.V1298 0.858 93 0% 78 46.2% 53 56.6% - - - NULL MBD1 4152 genome.wustl.edu 37 18 47802306 47802306 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015846.3 -1 reviewed p.C188S 1.000 160 0% 37 40.5% 50 44% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-CXXC MBD1 4152 genome.wustl.edu 37 18 47806299 47806299 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015846.3 -1 reviewed p.R22C 1.000 107 0% 22 36.4% 24 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain ME2 4200 genome.wustl.edu 37 18 48422202 48422202 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002396.4 +1 reviewed p.R4 0.948 136 0% 107 41.1% 18 77.7% - - - NULL ME2 4200 genome.wustl.edu 37 18 48434524 48434524 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002396.4 +1 reviewed p.R67Q 1.000 104 0% 82 45.1% 22 36.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF53223 ELAC1 55520 genome.wustl.edu 37 18 48510717 48510717 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018696.2 +1 validated p.E137* 0.884 107 0% 73 38.4% 5 40% - - - superfamily_SSF56281 DCC 1630 genome.wustl.edu 37 18 50734120 50734120 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005215.3 +1 reviewed p.F598L 0.999 198 0% 125 31.2% 0 - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DCC 1630 genome.wustl.edu 37 18 50832018 50832018 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005215.3 +1 reviewed p.R661Q 1.000 61 0% 22 31.8% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MBD2 8932 genome.wustl.edu 37 18 51715287 51715287 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003927.3 -1 reviewed p.K266T 1.000 325 0% 271 42.4% 195 47.6% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL C18orf54 162681 genome.wustl.edu 37 18 51888038 51888038 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173529.4 +1 validated p.K103N 0.000 104 0% 68 33.8% 0 - possibly_damaging(0.545) deleterious(0.03) deleterious(0.549) NULL TCF4 6925 genome.wustl.edu 37 18 52899757 52899757 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083962.1 -1 reviewed p.I544M 1.000 129 0% 80 40% 28 42.8% possibly_damaging(0.795) tolerated(0.2) neutral(0.347) NULL TCF4 6925 genome.wustl.edu 37 18 53252521 53252521 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083962.1 -1 reviewed p.F45 1.000 52 0% 86 45.3% 13 46.1% - - - NULL TXNL1 9352 genome.wustl.edu 37 18 54281785 54281785 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004786.2 -1 validated p.R202Q 1.000 211 0.5% 151 42.4% 176 48.8% benign(0.096) tolerated(0.2) neutral(0.056) HMMPfam_DUF1000 WDR7 23335 genome.wustl.edu 37 18 54339828 54339828 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015285.2 +1 reviewed p.T28A 1.000 113 0% 33 39.4% 2 50% unknown(0) deleterious(0.03) - HMMSmart_SM00320,superfamily_Prolyl oligopeptidase N-terminal domain,HMMPfam_WD40 WDR7 23335 genome.wustl.edu 37 18 54398698 54398698 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015285.2 +1 reviewed p.S620* 0.998 246 0% 59 45.8% 3 0% - - - NULL WDR7 23335 genome.wustl.edu 37 18 54605869 54605869 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015285.2 +1 reviewed p.L1313I 1.000 129 0% 72 54.2% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ST8SIA3 51046 genome.wustl.edu 37 18 55024185 55024185 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015879.2 +1 validated p.S115Y 1.000 85 0% 102 39.2% 0 - possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMPfam_Glyco_transf_29 FECH 2235 genome.wustl.edu 37 18 55221567 55221567 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012515.2 -1 reviewed p.P340 0.009 190 0% 141 53.9% 29 41.3% - - - HMMPfam_Ferrochelatase,superfamily_Chelatase NARS 4677 genome.wustl.edu 37 18 55282936 55282936 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004539.3 -1 validated p.K93N 1.000 406 0% 608 46.4% 137 40.8% benign(0.353) tolerated(0.13) neutral(0.364) superfamily_Nucleic_acid_OB ATP8B1 5205 genome.wustl.edu 37 18 55322485 55322485 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005603.4 -1 reviewed p.N958H 1.000 114 0% 92 43.5% 14 71.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF81665 ATP8B1 5205 genome.wustl.edu 37 18 55336654 55336654 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005603.4 -1 reviewed p.E665* 1.000 92 0% 128 38.3% 8 25% - - - superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 LOC284288 284288 genome.wustl.edu 37 18 55505831 55505831 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_210365.1 +1 model p.K42Q 1.000 13 0% 31 41.9% 0 - - - - HMMPfam_Ribosomal_L24e,HMMSmart_SM00746,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ALPK2 115701 genome.wustl.edu 37 18 56196326 56196326 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052947.3 -1 validated p.R1833I 1.000 147 0% 155 12.3% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ALPK2 115701 genome.wustl.edu 37 18 56202169 56202169 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052947.3 -1 validated p.K1750N 0.138 331 0% 300 27% 2 0% benign(0.373) deleterious(0.01) deleterious(0.524) NULL ALPK2 115701 genome.wustl.edu 37 18 56204672 56204672 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052947.3 -1 validated p.N916T 0.041 132 0% 80 45% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CCBE1 147372 genome.wustl.edu 37 18 57106807 57106807 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133459.3 -1 reviewed p.P307S 0.846 172 0% 97 44.3% 1 100% probably_damaging(0.994) tolerated(0.08) deleterious(0.752) HMMPfam_Collagen MC4R 4160 genome.wustl.edu 37 18 58038701 58038701 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005912.2 -1 reviewed p.N294K 1.000 144 0% 47 14.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC100287255 100287255 genome.wustl.edu 37 18 60985970 60985970 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343614.1 +1 model p.R254I 0.001 9 0.000 23 0.391 1 0% - - - NULL SERPINB12 89777 genome.wustl.edu 37 18 61225624 61225624 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080474.1 +1 provisional p.E70* 0.005 172 0% 64 34.4% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB13 5275 genome.wustl.edu 37 18 61255961 61255961 + Missense_Mutation SNP G G T rs35760977 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012397.3 +1 validated p.K20N 0.003 135 0% 34 41.2% 0 - benign(0.026) tolerated(0.6) neutral(0.005) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB13 5275 genome.wustl.edu 37 18 61256938 61256938 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012397.3 +1 validated p.E72* 0.981 211 0% 109 47.7% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB13 5275 genome.wustl.edu 37 18 61261694 61261694 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012397.3 +1 validated p.K193T 0.946 263 0% 162 36.4% 1 0% benign(0.119) tolerated(0.16) neutral(0.069) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB13 5275 genome.wustl.edu 37 18 61262415 61262415 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012397.3 +1 validated p.E256D 1.000 194 0% 86 45.3% 0 - probably_damaging(0.957) deleterious(0.05) deleterious(0.746) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB3 6317 genome.wustl.edu 37 18 61325786 61325786 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006919.2 -1 validated p.R144* 0.008 416 0% 89 47.2% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB11 89778 genome.wustl.edu 37 18 61390295 61390295 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080475.2 +1 validated p.E281* 0.052 148 0% 36 61.1% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB2 5055 genome.wustl.edu 37 18 61570494 61570494 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143818.1 +1 validated p.K401N 0.015 103 0% 20 40% 0 - benign(0.002) tolerated(1) - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CDH7 1005 genome.wustl.edu 37 18 63477026 63477026 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004361.2 +1 reviewed p.E99D 1.000 173 0% 40 50% 0 - probably_damaging(0.995) tolerated(0.43) deleterious(0.471) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH7 1005 genome.wustl.edu 37 18 63530064 63530064 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004361.2 +1 reviewed p.Q592R 1.000 152 0% 43 48.8% 0 - benign(0.01) tolerated(0.64) neutral(0.004) superfamily_Cadherin-like CDH19 28513 genome.wustl.edu 37 18 64172102 64172102 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021153.2 -1 reviewed p.R756C 1.000 66 0% 16 43.8% 0 - benign(0.007) deleterious(0.02) neutral(0.383) HMMPfam_Cadherin_C CDH19 28513 genome.wustl.edu 37 18 64218334 64218334 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021153.2 -1 reviewed p.E258* 0.989 100 0% 21 52.4% 0 - - - - superfamily_Cadherin CDH19 28513 genome.wustl.edu 37 18 64235726 64235726 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021153.2 -1 reviewed p.S139 0.987 158 0% 26 42.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin DSEL 92126 genome.wustl.edu 37 18 65180403 65180403 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032160.2 -1 validated p.G491 0.971 195 0% 100 39% 2 50% - - - NULL TMX3 54495 genome.wustl.edu 37 18 66364516 66364516 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019022.3 -1 validated p.E173* 1.000 57 0% 119 38.7% 7 28.5% - - - NULL CD226 10666 genome.wustl.edu 37 18 67534630 67534630 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006566.2 -1 reviewed p.R283I 0.005 293 0% 255 49% 0 - benign(0.118) tolerated(0.06) neutral(0.332) NULL NETO1 81832 genome.wustl.edu 37 18 70417353 70417353 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138966.2 -1 reviewed p.I495 0.525 409 0% 53 43.4% 0 - - - - NULL ZNF407 55628 genome.wustl.edu 37 18 72343501 72343501 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017757.2 +1 reviewed p.S176G 0.033 71 0% 71 46.5% 2 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ZNF407 55628 genome.wustl.edu 37 18 72632632 72632632 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017757.2 +1 reviewed p.L1804 1.000 212 0% 49 49% 5 0% - - - NULL ZNF236 7776 genome.wustl.edu 37 18 74616393 74616393 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007345.3 +1 validated p.F649C 1.000 199 0% 189 46.6% 2 0% probably_damaging(0.984) tolerated(0.18) deleterious(0.486) NULL ZNF236 7776 genome.wustl.edu 37 18 74635035 74635035 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007345.3 +1 validated p.R1187Q 0.904 152 0% 149 45.6% 7 42.8% 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 SALL3 27164 genome.wustl.edu 37 18 76753938 76753938 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_171999.2 +1 validated p.F649 0.981 9 0.000 9 0.556 0 - - - - NULL ATP9B 374868 genome.wustl.edu 37 18 76856500 76856500 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198531.3 +1 validated p.A48 0.958 339 0% 88 47.7% 1 0% - - - NULL ATP9B 374868 genome.wustl.edu 37 18 76870478 76870478 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198531.3 +1 validated p.K139N 0.998 157 0% 85 48.2% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP9B 374868 genome.wustl.edu 37 18 77013475 77013475 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198531.3 +1 validated p.F401S 1.000 534 0% 317 12.6% 1 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_E1-E2_ATPase NFATC1 4772 genome.wustl.edu 37 18 77221339 77221339 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172387.1 +1 reviewed p.A631 0.346 45 0% 50 38% 12 33.3% - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains NFATC1 4772 genome.wustl.edu 37 18 77227454 77227454 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172387.1 +1 reviewed p.S642Y 0.178 33 0% 53 37.7% 14 57.1% possibly_damaging(0.922) tolerated(0.59) neutral(0.376) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains CTDP1 9150 genome.wustl.edu 37 18 77464803 77464803 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004715.3 +1 reviewed p.M220V 0.998 37 0% 15 53.3% 13 92.3% benign(0.047) tolerated(0.34) neutral(0.026) HMMPfam_NIF,HMMSmart_SM00577,superfamily_HAD-like CTDP1 9150 genome.wustl.edu 37 18 77472971 77472971 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004715.3 +1 reviewed e7-1 1.000 65 0% 116 37.1% 1 100% - - - - POLRMT 5442 genome.wustl.edu 37 19 629990 629990 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005035.3 -1 reviewed p.K124N 0.086 15 0% 14 42.9% 21 52.3% benign(0.001) tolerated(0.09) neutral(0.296) NULL MUM1 84939 genome.wustl.edu 37 19 1360279 1360279 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032853.3 +1 validated p.R121Q 0.000 42 0% 47 57.4% 15 40% benign(0.082) tolerated(0.49) neutral(0.017) NULL DAZAP1 26528 genome.wustl.edu 37 19 1418240 1418240 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018959.2 +1 reviewed p.V36 0.455 78 1.3% 51 47.1% 76 35.5% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD MBD3 53615 genome.wustl.edu 37 19 1584602 1584602 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003926.5 -1 reviewed p.I115M 0.996 41 0% 42 40.5% 100 52% benign(0.19) deleterious(0.01) neutral(0.424) NULL ATP8B3 148229 genome.wustl.edu 37 19 1805409 1805409 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138813.2 -1 reviewed p.E290* 0.004 48 0% 138 39.9% 0 - - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653 TMPRSS9 360200 genome.wustl.edu 37 19 2408369 2408369 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182973.1 +1 provisional p.T252 0.000 21 0% 17 29.4% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZNF556 80032 genome.wustl.edu 37 19 2877695 2877695 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024967.1 +1 provisional p.R247C 0.000 50 0% 47 53.2% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF77 58492 genome.wustl.edu 37 19 2934246 2934246 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021217.2 -1 validated p.E293D 1.000 419 0% 236 44.9% 7 71.4% benign(0.009) deleterious(0.03) neutral(0.365) superfamily_SSF57667 TLE6 79816 genome.wustl.edu 37 19 2994930 2994930 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143986.1 +1 validated p.D549 0.771 44 0% 11 36.4% 1 100% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like GIPC3 126326 genome.wustl.edu 37 19 3586496 3586496 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133261.2 +1 validated p.L77V 0.989 7 0.000 31 0.387 0 - possibly_damaging(0.934) deleterious(0.01) deleterious(0.786) NULL ZFR2 23217 genome.wustl.edu 37 19 3834831 3834831 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015174.1 -1 validated p.F68 0.000 13 0% 13 61.5% 0 - - - - NULL ATCAY 85300 genome.wustl.edu 37 19 3905638 3905638 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033064.4 +1 reviewed p.E115K 0.998 118 0% 70 47.1% 0 - benign(0.325) deleterious(0.03) neutral(0.466) NULL ANKRD24 170961 genome.wustl.edu 37 19 4216555 4216555 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133475.1 +1 provisional p.E466D 1.000 35 0% 33 12.1% 2 0% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL ANKRD24 170961 genome.wustl.edu 37 19 4216703 4216703 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133475.1 +1 provisional p.R516* 0.000 44 0% 32 43.8% 1 0% - - - NULL CHAF1A 10036 genome.wustl.edu 37 19 4429560 4429560 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005483.2 +1 validated p.K577R 0.476 89 0% 71 53.5% 61 47.5% possibly_damaging(0.825) tolerated(0.38) neutral(0.330) NULL HDGFRP2 84717 genome.wustl.edu 37 19 4491801 4491801 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001520.1 +1 reviewed p.R216Q 0.957 15 0% 28 35.7% 87 45.9% probably_damaging(0.963) tolerated(0.18) neutral(0.462) NULL DPP9 91039 genome.wustl.edu 37 19 4702661 4702661 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_139159.4 -1 reviewed p.F279 0.984 29 0% 36 50% 20 30% - - - HMMPfam_DPPIV_N,superfamily_SSF82171 PTPRS 5802 genome.wustl.edu 37 19 5210733 5210733 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002850.3 -1 reviewed p.S1773L 1.000 34 0% 63 34.9% 203 49.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRS 5802 genome.wustl.edu 37 19 5265174 5265174 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002850.3 -1 reviewed p.D138G 1.000 256 0% 40 50% 77 49.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_I-set,superfamily_Immunoglobulin SAFB2 9667 genome.wustl.edu 37 19 5610680 5610680 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014649.2 -1 validated p.D389Y 1.000 216 0% 461 39.9% 27 48.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF54928 CATSPERD 257062 genome.wustl.edu 37 19 5768218 5768218 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152784.3 +1 validated p.L533F 0.003 118 0% 38 42.1% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL C3 718 genome.wustl.edu 37 19 6678192 6678192 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000064.2 -1 reviewed p.L1607 0.012 145 0% 61 50.8% 24 0% - - - superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643 C3 718 genome.wustl.edu 37 19 6702165 6702165 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000064.2 -1 reviewed p.L805M 0.916 144 0% 98 54.1% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_A2M VAV1 7409 genome.wustl.edu 37 19 6829812 6829812 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005428.2 +1 reviewed p.L427 0.795 280 0% 50 40% 4 0% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 EMR1 2015 genome.wustl.edu 37 19 6897159 6897159 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001974.3 +1 reviewed e4-1 0.901 151 0% 65 40% 0 - - - - - EMR1 2015 genome.wustl.edu 37 19 6924789 6924789 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001974.3 +1 reviewed p.R631Q 0.022 671 0% 123 46.3% 0 - benign(0.149) tolerated(1) neutral(0.013) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like EMR4P 326342 genome.wustl.edu 37 19 6974684 6974684 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000359590 -1 known p.E217D 0.000 94 0% 88 43.2% 0 - - - - NULL ARHGEF18 23370 genome.wustl.edu 37 19 7506574 7506574 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130955.1 +1 reviewed p.A193V 0.000 72 0% 177 45.2% 10 40% benign(0) tolerated(0.2) neutral(0.049) NULL PNPLA6 10908 genome.wustl.edu 37 19 7614876 7614876 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006702.4 +1 reviewed p.F525 0.985 35 0% 26 57.7% 48 41.6% - - - HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding CD209 30835 genome.wustl.edu 37 19 7806083 7806083 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_026692.1 -1 reviewed NULL 0.304 93 0% 66 39.4% 2 0% - - - - CLEC4M 10332 genome.wustl.edu 37 19 7828084 7828084 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_026707.1 +1 reviewed NULL 0.000 43 0% 49 36.7% 0 - - - - - EVI5L 115704 genome.wustl.edu 37 19 7918174 7918174 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145245.3 +1 validated p.Y367 0.288 23 0% 34 52.9% 11 27.2% - - - NULL ELAVL1 1994 genome.wustl.edu 37 19 8032675 8032675 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001419.2 -1 reviewed e4-1 1.000 64 0% 123 43.9% 0 - - - - - FBN3 84467 genome.wustl.edu 37 19 8188776 8188776 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032447.3 -1 reviewed p.E950K 0.932 20 0% 20 35% 8 12.5% benign(0.245) tolerated(0.11) neutral(0.297) HMMPfam_TB,superfamily_TB module/8-cys domain PRAM1 84106 genome.wustl.edu 37 19 8555784 8555784 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032152.3 -1 reviewed p.R576Q 1.000 119 0% 104 48.1% 1 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) superfamily_SH3-domain MUC16 94025 genome.wustl.edu 37 19 8966719 8966719 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.L14412M 0.033 130 0% 28 46.4% 2 50% possibly_damaging(0.855) tolerated(0.09) deleterious(0.627) HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain MUC16 94025 genome.wustl.edu 37 19 9046659 9046659 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.T11658A 0.006 557 0% 109 12.8% 0 - benign(0.099) - - NULL MUC16 94025 genome.wustl.edu 37 19 9049420 9049420 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.V10737 0.000 807 0% 110 54.5% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9050064 9050064 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.M10523V 0.000 2474 0.1% 265 47.2% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9058601 9058601 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.V9615 0.000 254 0% 121 40.5% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9059979 9059979 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.S9156Y 0.000 217 0% 86 47.7% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9060000 9060000 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.S9149Y 0.000 211 0% 91 44% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9067903 9067903 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.L6515M 0.000 458 0% 180 13.3% 1 0% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9069384 9069384 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.S6021Y 0.003 337 0% 79 43% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9073926 9073926 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.S4507* 0.002 407 0% 80 15% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9074535 9074535 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.S4304F 0.001 508 0% 82 52.4% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9084506 9084506 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.L2437I 0.084 212 0% 96 43.8% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9086933 9086933 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.T1628A 0.000 906 0% 190 11.1% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9087579 9087579 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.S1412 0.004 516 0% 185 49.7% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9087801 9087801 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.V1338 0.001 829 0% 250 45.2% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9091043 9091043 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024690.2 -1 validated p.L258I 0.001 760 0% 211 13.7% 0 - unknown(0) - - NULL OR1M1 125963 genome.wustl.edu 37 19 9204748 9204748 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004456.1 +1 provisional p.V276 0.027 127 0% 46 17.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR7G2 390882 genome.wustl.edu 37 19 9213929 9213929 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005193.1 -1 provisional p.I18 0.000 118 0.8% 75 40% 0 - - - - NULL OR7D4 125958 genome.wustl.edu 37 19 9325472 9325472 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005191.1 -1 provisional p.L14 0.030 83 0% 28 39.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR7E24 26648 genome.wustl.edu 37 19 9362212 9362212 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079935.1 +1 provisional p.L165 0.000 239 0.4% 210 43.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR7E24 26648 genome.wustl.edu 37 19 9362472 9362472 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079935.1 +1 provisional p.G251 0.055 86 0% 99 51.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF699 374879 genome.wustl.edu 37 19 9406753 9406753 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198535.1 -1 provisional p.R443* 0.793 119 0% 104 11.5% 2 0% - - - superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152476.2 -1 validated p.R694Q 0.000 97 0% 69 46.4% 0 - probably_damaging(0.987) tolerated(0.64) neutral(0.440) superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577834 9577834 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152476.2 -1 validated p.E597* 0.997 172 0% 111 19.8% 0 - - - - superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577906 9577906 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152476.2 -1 validated p.E573* 0.001 129 0% 81 45.7% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9579864 9579864 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152476.2 -1 validated e7-1 0.015 41 0% 50 42% 0 - - - - - ZNF121 7675 genome.wustl.edu 37 19 9677524 9677524 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008727.2 -1 validated p.E89* 0.001 168 0% 124 46% 16 56.2% - - - superfamily_SSF57667 ZNF561 93134 genome.wustl.edu 37 19 9721559 9721559 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152289.2 -1 validated p.K260E 0.991 283 0% 213 39.4% 30 56.6% probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_SSF57667 ZNF812 729648 genome.wustl.edu 37 19 9801205 9801205 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001726949.2 -1 model p.R252Q 0.010 417 0.5% 194 42.8% 7 14.2% 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 ZNF812 729648 genome.wustl.edu 37 19 9801912 9801912 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001726949.2 -1 model p.E16D 0.000 117 0% 116 42.2% 1 0% benign(0.032) deleterious(0.04) neutral(0.350) NULL TYK2 7297 genome.wustl.edu 37 19 10468806 10468806 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003331.4 -1 reviewed p.K728N 1.000 15 0% 16 62.5% 40 47.5% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like PDE4A 5141 genome.wustl.edu 37 19 10570022 10570022 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000380686 +1 known p.L16I 0.000 115 0% 45 46.7% 0 - possibly_damaging(0.767) tolerated(0.16) neutral(0.344) NULL KRI1 65095 genome.wustl.edu 37 19 10670295 10670295 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023008.3 -1 validated p.K345N 1.000 141 0% 166 42.2% 18 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC44A2 57153 genome.wustl.edu 37 19 10742050 10742050 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020428.3 +1 validated p.K144E 0.174 76 0% 107 40.2% 76 39.4% benign(0) tolerated(0.61) neutral(0.004) NULL CARM1 10498 genome.wustl.edu 37 19 11015752 11015752 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199141.1 +1 validated p.D116N 0.998 101 0% 78 52.6% 51 43.1% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL TMEM205 374882 genome.wustl.edu 37 19 11456076 11456076 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145416.1 -1 validated p.R39Q 0.037 36 0% 32 40.6% 319 43.8% probably_damaging(0.994) tolerated(0.05) deleterious(0.797) NULL ZNF627 199692 genome.wustl.edu 37 19 11727865 11727865 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145295.3 +1 validated p.R183* 0.011 37 0% 185 53.5% 33 60.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF627 199692 genome.wustl.edu 37 19 11728369 11728369 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145295.3 +1 validated p.R351* 0.044 37 0% 114 45.6% 42 30.9% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF823 55552 genome.wustl.edu 37 19 11832704 11832704 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080493.2 -1 validated p.H549N 1.000 139 0% 201 38.8% 12 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF441 126068 genome.wustl.edu 37 19 11891134 11891134 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152355.2 +1 validated p.G165 0.323 139 0% 156 47.4% 4 50% - - - superfamily_C2H2 and C2HC zinc fingers ZNF441 126068 genome.wustl.edu 37 19 11891619 11891619 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152355.2 +1 validated p.K327T 0.617 145 0% 163 47.2% 0 - benign(0.025) deleterious(0.04) neutral(0.350) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF433 163059 genome.wustl.edu 37 19 12126467 12126467 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080411.1 -1 provisional p.S405 0.000 141 0% 145 46.9% 6 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12155741 12155741 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080404.1 -1 inferred p.R206C 0.000 240 0% 317 48.6% 3 33.3% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12157233 12157233 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080404.1 -1 inferred p.W94C 0.001 275 0% 545 49.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF20 7568 genome.wustl.edu 37 19 12243573 12243573 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021143.2 -1 validated p.E476D 1.000 241 0.4% 175 54.9% 17 70.5% benign(0.103) deleterious(0.01) neutral(0.414) superfamily_C2H2 and C2HC zinc fingers ZNF136 7695 genome.wustl.edu 37 19 12298667 12298667 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003437.2 +1 validated p.R492* 0.000 145 0% 81 38.3% 16 56.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100287841 100287841 genome.wustl.edu 37 19 12358451 12358451 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343641.1 -1 model p.E422* 0.002 23 0% 33 48.5% 0 - - - - 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-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016264.3 -1 validated p.R273I 0.280 137 0% 216 46.3% 5 40% 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 ZNF563 147837 genome.wustl.edu 37 19 12429419 12429419 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145276.2 -1 validated p.E474* 1.000 119 0% 134 29.9% 7 42.8% - - - superfamily_C2H2 and C2HC zinc fingers ZNF563 147837 genome.wustl.edu 37 19 12429955 12429955 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145276.2 -1 validated p.S295Y 0.000 245 0% 243 34.6% 7 57.1% benign(0) tolerated(0.58) neutral(0.005) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF442 79973 genome.wustl.edu 37 19 12461293 12461293 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030824.2 -1 validated p.R369I 0.940 371 0% 258 48.4% 4 25% possibly_damaging(0.938) deleterious(0.04) deleterious(0.732) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF799 90576 genome.wustl.edu 37 19 12501863 12501863 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080821.1 -1 validated p.K450T 0.010 240 0% 168 46.4% 4 75% probably_damaging(0.996) tolerated(0.18) deleterious(0.518) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF443 10224 genome.wustl.edu 37 19 12543924 12543924 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005815.4 -1 validated p.D31Y 0.949 581 0% 254 23.6% 1 100% benign(0.413) deleterious(0) deleterious(0.578) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF709 163051 genome.wustl.edu 37 19 12575849 12575849 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152601.3 -1 validated p.R296Q 0.000 32 0% 113 51.3% 4 50% possibly_damaging(0.601) tolerated(1) neutral(0.208) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12575921 12575921 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152601.3 -1 validated p.R272M 0.237 36 0% 95 48.4% 1 100% benign(0.405) tolerated(0.05) deleterious(0.476) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12576173 12576173 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152601.3 -1 validated p.R188I 0.254 86 0% 156 52.6% 1 0% probably_damaging(0.966) tolerated(0.09) deleterious(0.704) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12576269 12576269 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152601.3 -1 validated p.R156Q 0.000 111 0.9% 189 43.9% 7 57.1% benign(0.289) tolerated(1) neutral(0.089) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF564 163050 genome.wustl.edu 37 19 12637432 12637432 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144976.3 -1 validated p.R497I 0.977 254 0% 299 48.8% 11 36.3% benign(0.346) deleterious(0.03) deleterious(0.474) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF564 163050 genome.wustl.edu 37 19 12637864 12637864 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144976.3 -1 validated p.R353Q 0.000 89 0% 140 12.1% 12 25% possibly_damaging(0.939) tolerated(1) neutral(0.385) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF564 163050 genome.wustl.edu 37 19 12637948 12637948 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144976.3 -1 validated p.R325Q 0.037 104 0% 144 50.7% 5 60% possibly_damaging(0.528) tolerated(0.86) neutral(0.178) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF564 163050 genome.wustl.edu 37 19 12638494 12638494 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144976.3 -1 validated p.C143F 0.466 214 0% 182 45.6% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF791 163049 genome.wustl.edu 37 19 12739050 12739050 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153358.2 +1 validated p.R236I 0.948 71 0% 120 52.5% 4 25% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 BEST2 54831 genome.wustl.edu 37 19 12866435 12866435 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017682.2 +1 reviewed p.T241A 1.000 244 0% 102 45.1% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Bestrophin GCDH 2639 genome.wustl.edu 37 19 13010519 13010519 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013976.2 +1 reviewed p.Q417* 0.001 187 0% 150 48% 30 30% - - - NULL CALR 811 genome.wustl.edu 37 19 13050041 13050041 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004343.3 +1 reviewed p.K62R 0.998 35 0% 64 50% 881 47.7% benign(0.036) tolerated(0.27) neutral(0.036) HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases TRMT1 55621 genome.wustl.edu 37 19 13218585 13218585 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136035.2 -1 validated p.W496G 1.000 45 0% 105 48.6% 40 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TRM CACNA1A 773 genome.wustl.edu 37 19 13346454 13346454 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127222.1 -1 reviewed p.L1681I 1.000 163 0% 96 52.1% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1A 773 genome.wustl.edu 37 19 13387925 13387925 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127222.1 -1 reviewed p.D1280E 1.000 229 0% 192 50% 0 - probably_damaging(0.994) tolerated(0.08) deleterious(0.752) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CC2D1A 54862 genome.wustl.edu 37 19 14037873 14037873 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017721.4 +1 reviewed p.F736 0.971 60 0% 86 39.5% 44 40.9% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PRKACA 5566 genome.wustl.edu 37 19 14213637 14213637 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002730.3 -1 reviewed p.F109L 0.997 97 0% 148 50.7% 85 43.5% benign(0.003) tolerated(0.52) neutral(0.009) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EMR3 84658 genome.wustl.edu 37 19 14749003 14749003 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032571.3 -1 reviewed p.I466 0.957 224 0% 50 44% 1 0% - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like EMR3 84658 genome.wustl.edu 37 19 14765801 14765801 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032571.3 -1 reviewed p.D190 0.000 165 0.6% 276 47.5% 0 - - - - NULL ZNF333 84449 genome.wustl.edu 37 19 14829464 14829464 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032433.2 +1 validated p.R442I 0.970 263 0% 69 43.5% 9 44.4% probably_damaging(0.988) tolerated(0.07) deleterious(0.756) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR7A17 26333 genome.wustl.edu 37 19 14991445 14991445 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030901.1 -1 provisional p.C241 0.298 147 0% 95 13.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR7A17 26333 genome.wustl.edu 37 19 14991924 14991924 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030901.1 -1 provisional p.L82F 0.945 323 0% 107 25.2% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_7tm_1,superfamily_SSF81321 OR7A17 26333 genome.wustl.edu 37 19 14992074 14992074 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030901.1 -1 provisional p.L32M 0.110 99 0% 48 43.8% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) superfamily_SSF81321 OR7C2 26658 genome.wustl.edu 37 19 15052847 15052847 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012377.1 +1 provisional p.E183K 0.000 655 0% 412 41.7% 0 - benign(0.022) tolerated(0.1) neutral(0.287) HMMPfam_7tm_1,superfamily_SSF81321 OR7C2 26658 genome.wustl.edu 37 19 15053032 15053032 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012377.1 +1 provisional p.L244 0.004 532 0% 299 47.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CASP14 23581 genome.wustl.edu 37 19 15164422 15164422 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012114.1 +1 reviewed p.K53Q 0.958 189 0% 23 34.8% 0 - possibly_damaging(0.844) tolerated(0.35) neutral(0.344) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CYP4F22 126410 genome.wustl.edu 37 19 15636255 15636255 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173483.3 +1 reviewed p.F36 0.970 430 0% 64 45.3% 0 - - - - NULL CYP4F22 126410 genome.wustl.edu 37 19 15648771 15648771 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173483.3 +1 reviewed p.K213R 1.000 232 0% 63 36.5% 0 - possibly_damaging(0.839) deleterious(0.03) deleterious(0.685) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F8 11283 genome.wustl.edu 37 19 15739598 15739598 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000441682 +1 known p.E447K 0.794 82 0% 53 49.1% 0 - benign(0.016) deleterious(0.03) neutral(0.365) HMMPfam_p450,superfamily_Cytochrome P450 CYP4F8 11283 genome.wustl.edu 37 19 15740054 15740054 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007253.3 +1 reviewed p.R483H 0.964 123 0% 40 35% 0 - - - - NULL CYP4F3 4051 genome.wustl.edu 37 19 15756539 15756539 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000896.2 +1 reviewed p.S70L 0.101 182 0% 66 40.9% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F3 4051 genome.wustl.edu 37 19 15758104 15758104 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000896.2 +1 reviewed p.K165N 0.106 242 0% 152 45.4% 0 - possibly_damaging(0.472) tolerated(0.09) neutral(0.453) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F12 66002 genome.wustl.edu 37 19 15794505 15794505 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023944.2 +1 reviewed p.D284Y 0.618 229 0% 115 37.4% 0 - possibly_damaging(0.609) deleterious(0.03) deleterious(0.576) HMMPfam_p450,superfamily_Cytochrome P450 OR10H2 26538 genome.wustl.edu 37 19 15839801 15839801 + Nonstop_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013939.2 +1 validated p.*316C 0.093 272 0% 67 40.3% 0 - - - - NULL LOC388514 388514 genome.wustl.edu 37 19 15872059 15872059 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_017598.3 -1 model NULL 1.000 141 0% 45 35.6% 0 - - - - - CYP4F11 57834 genome.wustl.edu 37 19 16033201 16033201 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128932.1 -1 reviewed p.A320S 0.997 658 0% 210 41.9% 0 - probably_damaging(0.967) tolerated(0.12) deleterious(0.669) HMMPfam_p450,superfamily_Cytochrome P450 CYP4F11 57834 genome.wustl.edu 37 19 16045048 16045048 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128932.1 -1 reviewed p.Q57H 0.186 201 0% 45 55.6% 0 - benign(0.394) tolerated(0.14) neutral(0.376) HMMPfam_p450,superfamily_Cytochrome P450 CIB3 117286 genome.wustl.edu 37 19 16275561 16275561 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_054113.2 -1 reviewed p.Q170H 1.000 250 0% 82 41.5% 0 - possibly_damaging(0.777) deleterious(0) deleterious(0.734) superfamily_EF-hand EPS15L1 58513 genome.wustl.edu 37 19 16506157 16506157 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021235.1 -1 provisional p.K638R 1.000 219 0% 223 42.2% 26 30.7% possibly_damaging(0.952) tolerated(0.13) deleterious(0.648) NULL C19orf44 84167 genome.wustl.edu 37 19 16617571 16617571 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032207.2 +1 validated p.D379N 0.002 37 0% 119 44.5% 1 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL CHERP 10523 genome.wustl.edu 37 19 16652741 16652741 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006387.5 -1 validated p.L47I 1.000 51 0% 180 46.1% 27 33.3% possibly_damaging(0.615) deleterious(0) deleterious(0.658) HMMPfam_Surp,HMMSmart_SM00648,superfamily_Surp module (SWAP domain Pfam 01805) NWD1 284434 genome.wustl.edu 37 19 16899872 16899872 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007525.2 +1 validated p.W802* 0.932 124 0.8% 119 44.5% 1 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 NWD1 284434 genome.wustl.edu 37 19 16908673 16908673 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001007525.2 +1 validated p.T1010 0.024 146 0% 79 48.1% 1 100% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HAUS8 93323 genome.wustl.edu 37 19 17163732 17163732 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033417.1 -1 validated p.E278* 0.003 233 0% 124 46.8% 18 11.1% - - - NULL MYO9B 4650 genome.wustl.edu 37 19 17313982 17313982 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004145.3 +1 reviewed p.F1635 0.748 47 0% 12 50% 85 40% - - - HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 PLVAP 83483 genome.wustl.edu 37 19 17476486 17476486 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031310.1 -1 provisional p.S263* 0.004 8 0.000 33 0.697 50 0% - - - HMMPfam_PV-1 PGLS 25796 genome.wustl.edu 37 19 17627005 17627005 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012088.2 +1 validated p.P104 0.968 84 0% 48 47.9% 61 34.4% - - - HMMPfam_Glucosamine_iso,superfamily_SSF100950 PDE4C 5143 genome.wustl.edu 37 19 18321914 18321914 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000923.3 -1 validated p.R655I 1.000 193 0% 78 39.7% 0 - probably_damaging(0.963) deleterious(0.01) deleterious(0.811) superfamily_HD-domain/PDEase-like SUGP2 10147 genome.wustl.edu 37 19 19135956 19135956 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017392.3 -1 reviewed p.E401* 1.000 7 0.000 30 0.367 11 9% - - - NULL RFXANK 8625 genome.wustl.edu 37 19 19309986 19309986 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003721.2 +1 reviewed p.E219K 0.998 17 0% 23 30.4% 300 46% possibly_damaging(0.93) tolerated(0.51) neutral(0.386) HMMPfam_Ank,superfamily_Ankyrin repeat NCAN 1463 genome.wustl.edu 37 19 19334956 19334956 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004386.2 +1 validated p.D201G 0.999 111 0% 45 46.7% 0 - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_Xlink,HMMSmart_LINK,PatternScan_LINK_1,superfamily_C-type_lectin_fold NCAN 1463 genome.wustl.edu 37 19 19335211 19335211 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004386.2 +1 validated p.Y249 0.996 91 0% 47 31.9% 0 - - - - HMMPfam_Xlink,HMMSmart_LINK,superfamily_C-type_lectin_fold GMIP 51291 genome.wustl.edu 37 19 19745644 19745644 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016573.2 -1 reviewed p.S615L 0.930 10 0% 21 47.6% 34 32.3% benign(0.39) deleterious(0.05) deleterious(0.470) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ATP13A1 57130 genome.wustl.edu 37 19 19756768 19756768 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020410.2 -1 validated p.K1092T 1.000 58 0% 79 41.8% 122 52.4% benign(0.003) tolerated(0.3) neutral(0.029) NULL ZNF14 7561 genome.wustl.edu 37 19 19822451 19822451 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021030.2 -1 reviewed p.R547 0.001 141 0% 81 38.3% 9 44.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF253 56242 genome.wustl.edu 37 19 20002480 20002480 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021047.2 +1 provisional p.E142* 0.021 110 0% 114 45.6% 17 82.3% - - - superfamily_C2H2 and C2HC zinc fingers ZNF253 56242 genome.wustl.edu 37 19 20003303 20003303 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021047.2 +1 provisional p.R416I 0.007 78 0% 70 42.9% 24 16.6% benign(0.028) tolerated(0.26) neutral(0.036) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF253 56242 genome.wustl.edu 37 19 20003387 20003387 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021047.2 +1 provisional p.R444I 1.000 86 0% 68 39.7% 30 63.3% benign(0.005) tolerated(0.19) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF93 81931 genome.wustl.edu 37 19 20044256 20044256 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031218.3 +1 validated p.N164 0.878 163 0% 145 41.4% 12 58.3% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF93 81931 genome.wustl.edu 37 19 20044426 20044426 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031218.3 +1 validated p.R221I 0.536 95 0% 59 32.2% 16 37.5% benign(0.003) tolerated(0.2) neutral(0.049) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF682 91120 genome.wustl.edu 37 19 20117632 20117632 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033196.2 -1 validated p.K227Q 1.000 98 0% 132 42.4% 7 42.8% benign(0.003) deleterious(0) neutral(0.445) superfamily_C2H2 and C2HC zinc fingers ZNF90 7643 genome.wustl.edu 37 19 20229106 20229106 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007138.1 +1 validated p.K248T 0.243 196 0% 108 36.1% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000213985 0 genome.wustl.edu 37 19 20369563 20369563 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000397155 +1 known p.S175Y 1.000 174 0% 229 41.5% 8 0% - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ZNF737 100129842 genome.wustl.edu 37 19 20728011 20728011 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343624.1 -1 model p.R333I 0.977 32 0% 28 50% 20 45% benign(0.01) tolerated(0.19) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF737 100129842 genome.wustl.edu 37 19 20736611 20736611 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343624.1 -1 model p.E12* 0.664 150 0% 141 39% 5 60% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF66P 7617 genome.wustl.edu 37 19 20975348 20975348 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000425625 +1 known p.E58* 0.096 179 0% 177 26.6% 2 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF66P 7617 genome.wustl.edu 37 19 20988635 20988635 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000425625 +1 known p.L123V 0.000 69 0% 88 34.1% 0 - - - - NULL ZNF66P 7617 genome.wustl.edu 37 19 20989404 20989404 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000425625 +1 known p.R379I 0.928 68 0% 29 27.6% 5 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF430 80264 genome.wustl.edu 37 19 21205621 21205621 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025189.3 +1 validated p.P10 0.002 113 0% 154 44.2% 3 0% - - - NULL ZNF431 170959 genome.wustl.edu 37 19 21365861 21365861 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133473.2 +1 validated p.R252I 1.000 65 0% 66 37.9% 7 57.1% benign(0.075) tolerated(0.15) neutral(0.246) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF431 170959 genome.wustl.edu 37 19 21366633 21366633 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133473.2 +1 validated p.E509D 1.000 101 0% 84 51.2% 6 0% benign(0.003) deleterious(0.02) neutral(0.383) superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21606166 21606166 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001076678.2 +1 validated p.E235D 1.000 61 0% 39 51.3% 2 50% benign(0.167) tolerated(0.07) neutral(0.334) superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21606735 21606735 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001076678.2 +1 validated p.R425I 0.443 34 0% 16 31.2% 2 0% possibly_damaging(0.634) tolerated(0.16) neutral(0.281) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF429 353088 genome.wustl.edu 37 19 21719517 21719517 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001415.2 +1 provisional p.R221I 0.799 64 0% 125 44.8% 9 33.3% benign(0.009) tolerated(0.14) neutral(0.250) NULL ZNF429 353088 genome.wustl.edu 37 19 21720024 21720024 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001415.2 +1 provisional p.I390T 0.788 40 0% 86 46.5% 2 0% benign(0.26) tolerated(0.15) neutral(0.268) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22154671 22154671 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007153.3 -1 provisional p.K927 0.890 221 0% 40 40% 0 - - - - superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22156534 22156534 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007153.3 -1 provisional p.F434L 0.004 198 0% 48 35.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF48695,superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22157104 22157104 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007153.3 -1 provisional p.L244 0.001 43 0% 28 39.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22157354 22157354 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007153.3 -1 provisional p.N161S 0.000 392 0% 149 49% 0 - benign(0.142) tolerated(0.81) neutral(0.013) NULL ZNF257 113835 genome.wustl.edu 37 19 22271205 22271205 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033468.2 +1 provisional p.R218Q 0.000 54 0% 65 44.6% 0 - benign(0.049) tolerated(1) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF257 113835 genome.wustl.edu 37 19 22271727 22271727 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033468.2 +1 provisional p.R392I 1.000 78 0% 71 57.7% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF676 163223 genome.wustl.edu 37 19 22363448 22363448 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001411.2 -1 provisional p.I357M 0.255 101 0% 45 51.1% 0 - benign(0.007) tolerated(0.07) neutral(0.319) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100287226 100287226 genome.wustl.edu 37 19 22496674 22496674 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343636.1 +1 model p.K19T 0.006 117 0% 90 45.6% 0 - possibly_damaging(0.763) deleterious(0.04) deleterious(0.632) superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497054 22497054 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343636.1 +1 model p.L146I 0.001 21 0% 23 47.8% 0 - benign(0.047) deleterious(0.04) neutral(0.352) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497071 22497071 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343636.1 +1 model p.R151S 0.620 20 0% 20 40% 0 - benign(0.105) tolerated(0.19) neutral(0.058) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497338 22497338 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343636.1 +1 model p.E240D 0.994 38 0% 24 33.3% 0 - benign(0.078) deleterious(0.03) neutral(0.370) superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497609 22497609 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343636.1 +1 model p.E331* 0.011 67 0% 21 47.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497814 22497814 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343636.1 +1 model p.R399I 0.001 35 0% 22 40.9% 0 - possibly_damaging(0.678) tolerated(0.52) neutral(0.250) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF99 7652 genome.wustl.edu 37 19 22939861 22939861 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080409.1 -1 provisional p.H824N 0.969 203 0% 134 44% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC646864 646864 genome.wustl.edu 37 19 23040194 23040194 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001726885.1 +1 model p.H196 1.000 52 0% 87 28.7% 0 - - - - superfamily_C2H2 and C2HC zinc fingers LOC646864 646864 genome.wustl.edu 37 19 23040212 23040212 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001726885.1 +1 model p.F202L 0.174 58 0% 82 32.9% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC646864 646864 genome.wustl.edu 37 19 23040527 23040527 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001726885.1 +1 model p.I307 1.000 12 0% 27 48.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23159860 23159860 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001726961.1 -1 model p.D93E 0.000 124 0% 62 22.6% 0 - - - - NULL ZNF730 100129543 genome.wustl.edu 37 19 23328807 23328807 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001719792.2 +1 model p.F363L 0.820 27 0% 44 47.7% 0 - 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 ZNF730 100129543 genome.wustl.edu 37 19 23329342 23329342 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000327867 +1 known p.K499T 0.998 10 0% 28 50% 0 - probably_damaging(0.966) tolerated(0.1) deleterious(0.694) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF724P 440519 genome.wustl.edu 37 19 23405267 23405267 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000418100 -1 known p.E594* 0.495 13 0% 16 37.5% 6 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23544756 23544756 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003430.2 -1 validated p.R342I 0.021 97 0% 122 44.3% 8 50% benign(0.048) tolerated(0.17) neutral(0.062) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23544926 23544926 + Missense_Mutation SNP C C G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003430.2 -1 validated p.K285N 0.996 166 0% 167 49.1% 14 78.5% probably_damaging(0.997) tolerated(0.32) deleterious(0.490) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23545372 23545372 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003430.2 -1 validated p.E137* 0.005 95 0% 202 38.6% 10 80% - - - NULL ZNF681 148213 genome.wustl.edu 37 19 23926439 23926439 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138286.2 -1 validated p.R638I 0.002 132 0.8% 232 38.4% 6 50% benign(0.01) tolerated(0.09) neutral(0.297) superfamily_C2H2 and C2HC zinc fingers ZNF681 148213 genome.wustl.edu 37 19 23938318 23938318 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138286.2 -1 validated p.F13L 0.716 165 0% 191 44.5% 0 - possibly_damaging(0.575) deleterious(0.02) deleterious(0.580) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ENSG00000104777 0 genome.wustl.edu 37 19 24102685 24102685 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000300996 -1 known NULL 0.001 9 0.000 50 0.460 0 - - - - - ZNF726 730087 genome.wustl.edu 37 19 24116707 24116707 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000322487 +1 known p.E597K 0.000 37 0% 39 35.9% 0 - benign(0.148) tolerated(0.22) neutral(0.055) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24309105 24309105 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203282.2 +1 validated p.E101D 0.001 128 0% 93 10.8% 35 17.1% benign(0.253) tolerated(0.14) neutral(0.276) NULL ZNF254 9534 genome.wustl.edu 37 19 24309295 24309295 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203282.2 +1 validated p.K165Q 0.019 71 0% 86 39.5% 18 55.5% probably_damaging(0.976) tolerated(0.18) deleterious(0.474) superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24309339 24309339 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203282.2 +1 validated p.K179N 1.000 52 0% 71 40.8% 8 12.5% benign(0.175) tolerated(0.17) neutral(0.075) superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24309961 24309961 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203282.2 +1 validated p.F387V 0.992 118 0% 51 51% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24310431 24310431 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203282.2 +1 validated p.E543D 0.639 45 2.2% 28 42.9% 19 78.9% benign(0.156) deleterious(0) neutral(0.459) superfamily_C2H2 and C2HC zinc fingers C19orf12 83636 genome.wustl.edu 37 19 30193777 30193777 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031726.2 -1 validated p.N101D 0.270 43 0% 25 20% 22 27.2% benign(0) tolerated(0.71) neutral(0.002) NULL URI1 8725 genome.wustl.edu 37 19 30498440 30498440 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003796.2 +1 reviewed p.D194G 0.996 159 0% 63 39.7% 49 30.6% benign(0.277) deleterious(0.01) neutral(0.435) NULL ZNF536 9745 genome.wustl.edu 37 19 30936283 30936283 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014717.1 +1 provisional p.R605Q 1.000 64 0% 55 50.9% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL ZNF536 9745 genome.wustl.edu 37 19 31038893 31038893 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014717.1 +1 provisional p.T789 0.999 25 0% 26 38.5% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ANKRD27 84079 genome.wustl.edu 37 19 33113485 33113485 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032139.2 -1 validated p.R557I 0.996 144 0% 61 45.9% 17 47% benign(0.141) deleterious(0.02) neutral(0.395) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TDRD12 91646 genome.wustl.edu 37 19 33222645 33222645 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001110822.1 +1 validated p.G13 0.957 63 0% 131 45% 0 - - - - HMMPfam_TUDOR TDRD12 91646 genome.wustl.edu 37 19 33263735 33263735 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001110822.1 +1 validated p.I314 0.988 60 0% 102 38.2% 0 - - - - NULL SLC7A9 11136 genome.wustl.edu 37 19 33353095 33353095 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001126335.1 -1 reviewed p.F211 0.997 94 0% 65 40% 0 - - - - HMMPfam_AA_permease SLC7A9 11136 genome.wustl.edu 37 19 33353113 33353113 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001126335.1 -1 reviewed p.K205N 0.924 94 0% 59 42.4% 0 - benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_AA_permease CEP89 84902 genome.wustl.edu 37 19 33406284 33406284 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032816.3 -1 validated p.I508 0.045 300 0% 147 40.1% 11 45.4% - - - NULL RHPN2 85415 genome.wustl.edu 37 19 33471065 33471065 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033103.4 -1 reviewed p.K633T 1.000 277 0% 103 41.7% 43 51.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPATCH1 55094 genome.wustl.edu 37 19 33617516 33617516 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018025.2 +1 provisional p.K881T 1.000 39 0% 117 42.7% 18 50% unknown(0) deleterious(0.05) - NULL CEBPG 1054 genome.wustl.edu 37 19 33870160 33870160 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001806.2 +1 reviewed p.S5 0.030 18 0% 24 45.8% 68 47% - - - NULL RPS4XP21 126235 genome.wustl.edu 37 19 34583512 34583512 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000469064 -1 known p.G246V 1.000 18 0% 11 36.4% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL UBA2 10054 genome.wustl.edu 37 19 34945254 34945254 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005499.2 +1 validated p.I376 0.999 173 1.2% 185 43.2% 51 49% - - - HMMPfam_UBACT,superfamily_MoeB SCGB2B2 284402 genome.wustl.edu 37 19 35085245 35085245 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001025591.2 -1 validated p.I27 0.127 146 0% 53 43.4% 0 - - - - superfamily_Secretoglobin ZNF792 126375 genome.wustl.edu 37 19 35449705 35449705 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175872.4 -1 validated p.N352D 0.000 156 0% 95 44.2% 0 - benign(0.392) tolerated(0.29) neutral(0.154) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF792 126375 genome.wustl.edu 37 19 35451811 35451811 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_175872.4 -1 validated p.D41N 0.096 580 0% 169 39.1% 1 100% possibly_damaging(0.896) tolerated(0.09) deleterious(0.650) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) CD22 933 genome.wustl.edu 37 19 35832001 35832001 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001771.3 +1 validated p.S489R 0.000 156 0% 50 50% 0 - benign(0.236) tolerated(0.78) neutral(0.025) HMMSmart_SM00409,superfamily_Immunoglobulin FFAR3 2865 genome.wustl.edu 37 19 35850257 35850257 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005304.3 +1 validated p.F155L 0.000 146 0% 104 9.6% 0 - benign(0.055) tolerated(0.34) neutral(0.026) HMMPfam_7tm_1,superfamily_SSF81321 DMKN 93099 genome.wustl.edu 37 19 36004014 36004014 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033317.3 -1 reviewed p.R122* 0.000 141 0% 62 45.2% 0 - - - - NULL MLL4 9757 genome.wustl.edu 37 19 36220137 36220137 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014727.1 +1 reviewed p.F1619 0.996 59 0% 55 40% 30 30% - - - NULL NPHS1 4868 genome.wustl.edu 37 19 36322392 36322392 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004646.3 -1 reviewed p.E1099D 0.991 55 0% 62 19.4% 0 - possibly_damaging(0.797) tolerated(0.53) neutral(0.307) NULL NPHS1 4868 genome.wustl.edu 37 19 36338979 36338979 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004646.3 -1 reviewed p.I468 0.960 22 0% 17 58.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin APLP1 333 genome.wustl.edu 37 19 36362859 36362859 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024807.1 +1 reviewed p.F257 0.942 57 0% 39 46.2% 14 57.1% - - - NULL LRFN3 79414 genome.wustl.edu 37 19 36431718 36431718 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024509.1 +1 provisional p.S464L 0.999 17 0% 12 58.3% 14 50% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like ZNF146 7705 genome.wustl.edu 37 19 36727609 36727609 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099638.1 +1 validated p.T89 0.037 59 0% 113 46% 54 48.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP82 284406 genome.wustl.edu 37 19 36884085 36884085 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133466.2 -1 provisional p.R386I 1.000 203 0% 140 49.3% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC644189 644189 genome.wustl.edu 37 19 36913166 36913166 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_016949.3 +1 model NULL 0.974 53 0% 69 50.7% 0 - - - - - LOC644189 644189 genome.wustl.edu 37 19 36913316 36913316 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XR_016949.3 +1 model NULL 0.669 34 0% 56 35.7% 0 - - - - - ZNF529 57711 genome.wustl.edu 37 19 37037900 37037900 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145649.1 -1 validated p.S520 0.052 197 0% 88 37.5% 4 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF382 84911 genome.wustl.edu 37 19 37117841 37117841 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032825.3 +1 validated p.E348* 1.000 71 0% 44 43.2% 7 42.8% - - - superfamily_C2H2 and C2HC zinc fingers ZNF461 92283 genome.wustl.edu 37 19 37130680 37130680 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153257.2 -1 validated p.E189D 0.828 173 0% 223 46.2% 4 75% benign(0.028) tolerated(0.05) neutral(0.347) superfamily_C2H2 and C2HC zinc fingers ZNF790 388536 genome.wustl.edu 37 19 37310084 37310084 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206894.2 -1 validated p.H388N 0.998 67 0% 65 49.2% 4 50% benign(0.026) deleterious(0) neutral(0.446) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF790 388536 genome.wustl.edu 37 19 37310257 37310257 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_206894.2 -1 validated p.R330I 1.000 74 0% 67 32.8% 7 57.1% possibly_damaging(0.441) tolerated(0.05) deleterious(0.489) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF345 25850 genome.wustl.edu 37 19 37368985 37368985 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003419.3 +1 provisional p.R418I 1.000 171 0% 99 47.5% 4 25% benign(0.1) tolerated(0.07) neutral(0.327) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF568 374900 genome.wustl.edu 37 19 37440531 37440531 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198539.2 +1 validated p.A159V 0.003 51 0% 79 41.8% 8 37.5% possibly_damaging(0.667) tolerated(0.47) neutral(0.247) NULL ZNF420 147923 genome.wustl.edu 37 19 37618127 37618127 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144689.3 +1 provisional p.N78K 0.000 87 0% 55 38.2% 11 45.4% benign(0.35) tolerated(1) neutral(0.111) NULL ZNF420 147923 genome.wustl.edu 37 19 37618194 37618194 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144689.3 +1 provisional p.E101* 0.001 120 0% 71 50.7% 11 45.4% - - - NULL ZNF585A 199704 genome.wustl.edu 37 19 37643141 37643141 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152655.2 -1 validated p.E499K 0.001 371 0.3% 174 37.9% 2 0% benign(0.413) deleterious(0.02) deleterious(0.516) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF585A 199704 genome.wustl.edu 37 19 37643680 37643680 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152655.2 -1 validated p.R319I 1.000 468 0.2% 153 46.4% 2 50% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF585B 92285 genome.wustl.edu 37 19 37676394 37676394 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152279.3 -1 validated p.R682I 0.997 509 0% 182 41.8% 6 16.6% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37677318 37677318 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152279.3 -1 validated p.R374I 1.000 401 0% 206 42.2% 2 50% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF527 84503 genome.wustl.edu 37 19 37880084 37880084 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032453.1 +1 validated p.R378I 1.000 164 0% 95 46.3% 4 50% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF569 148266 genome.wustl.edu 37 19 37904775 37904775 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152484.2 -1 validated p.R262I 0.998 85 0% 115 50.4% 4 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 ZNF570 148268 genome.wustl.edu 37 19 37967299 37967299 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144694.1 +1 provisional p.W73* 0.997 336 0% 105 14.3% 6 16.6% - - - HMMSmart_SM00349 ZNF570 148268 genome.wustl.edu 37 19 37975130 37975130 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144694.1 +1 provisional p.N202 0.000 31 0% 59 32.2% 4 25% - - - superfamily_C2H2 and C2HC zinc fingers ZNF571 51276 genome.wustl.edu 37 19 38056155 38056155 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016536.3 -1 validated p.K392T 0.000 106 0% 27 48.1% 2 0% benign(0.022) tolerated(0.18) neutral(0.057) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP30 22835 genome.wustl.edu 37 19 38126369 38126369 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014898.2 -1 validated p.E358A 0.968 120 0% 96 39.6% 15 46.6% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP30 22835 genome.wustl.edu 37 19 38126622 38126622 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014898.2 -1 validated p.E274* 0.630 193 0% 121 41.3% 8 37.5% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF607 84775 genome.wustl.edu 37 19 38189206 38189206 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032689.4 -1 validated p.R609I 1.000 129 0% 134 41.8% 3 0% benign(0.38) deleterious(0.03) deleterious(0.486) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38190650 38190650 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032689.4 -1 validated p.E128* 0.006 197 0% 180 45.6% 8 75% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers WDR87 83889 genome.wustl.edu 37 19 38379193 38379193 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031951.3 -1 provisional p.K1667N 0.000 341 0% 344 38.4% 0 - possibly_damaging(0.952) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38380768 38380768 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031951.3 -1 provisional p.S1142 0.001 146 0% 184 42.9% 0 - - - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38384315 38384315 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031951.3 -1 provisional p.K637N 0.944 45 0% 42 38.1% 0 - benign(0.195) - - superfamily_WD40 repeat-like WDR87 83889 genome.wustl.edu 37 19 38386928 38386928 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031951.3 -1 provisional p.K32N 0.779 139 0% 98 52% 0 - probably_damaging(0.978) - - NULL SPINT2 10653 genome.wustl.edu 37 19 38779825 38779825 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021102.3 +1 reviewed p.Y129D 1.000 80 0% 54 13% 749 14.4% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_BPTI-like FAM98C 147965 genome.wustl.edu 37 19 38896160 38896160 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174905.3 +1 validated p.E212A 0.997 102 0% 61 44.3% 27 51.8% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_DUF2465 RYR1 6261 genome.wustl.edu 37 19 38954147 38954147 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000540.2 +1 reviewed p.Q888* 1.000 48 0% 21 33.3% 0 - - - - HMMPfam_RyR RYR1 6261 genome.wustl.edu 37 19 38979852 38979852 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000540.2 +1 reviewed p.Q1861H 0.997 112 0% 104 42.3% 0 - benign(0.009) - - NULL RYR1 6261 genome.wustl.edu 37 19 38991483 38991483 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000540.2 +1 reviewed p.K2489N 0.834 61 0% 19 21.1% 0 - possibly_damaging(0.773) - - NULL RYR1 6261 genome.wustl.edu 37 19 39005682 39005682 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000540.2 +1 reviewed p.V3163 0.990 65 0% 46 23.9% 0 - - - - NULL LGALS4 3960 genome.wustl.edu 37 19 39297212 39297212 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006149.3 -1 reviewed p.F121L 1.000 88 0% 59 50.8% 0 - possibly_damaging(0.897) deleterious(0.05) deleterious(0.700) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases PAK4 10298 genome.wustl.edu 37 19 39665964 39665964 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014831.2 +1 reviewed p.E415 1.000 9 0.000 9 0.667 130 43% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NCCRP1 342897 genome.wustl.edu 37 19 39691087 39691087 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001414.1 +1 provisional p.R217Q 0.721 19 0% 10 60% 2 0% probably_damaging(0.988) tolerated(0.58) neutral(0.443) HMMPfam_FBA,superfamily_Gal_bind_like LGALS14 56891 genome.wustl.edu 37 19 40199911 40199911 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203471.1 +1 reviewed p.V155 0.004 266 0% 36 44.4% 0 - - - - HMMPfam_Gal-bind_lectin,HMMSmart_GLECT,superfamily_ConA_like_lec_gl FBL 2091 genome.wustl.edu 37 19 40325394 40325394 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001436.3 -1 reviewed p.K285N 1.000 196 0% 133 34.6% 975 43.6% benign(0.431) deleterious(0.03) deleterious(0.505) HMMPfam_Fibrillarin,superfamily_S-adenosyl-L-methionine-dependent methyltransferases PSMC4 5704 genome.wustl.edu 37 19 40480651 40480651 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006503.2 +1 reviewed p.D197Y 0.836 148 0% 44 29.5% 204 43.6% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF546 339327 genome.wustl.edu 37 19 40519597 40519597 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178544.3 +1 validated p.K140N 0.002 14 0% 46 19.6% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL ZNF780B 163131 genome.wustl.edu 37 19 40540339 40540339 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005851.2 -1 validated p.L809F 0.001 188 0% 77 35.1% 8 37.5% benign(0.001) tolerated(0.94) - superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40580707 40580707 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142577.1 -1 validated p.R549* 0.190 270 0% 137 42.3% 3 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SPTBN4 57731 genome.wustl.edu 37 19 41063300 41063300 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020971.2 +1 reviewed p.L1887 0.969 9 0.000 7 0.571 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SHKBP1 92799 genome.wustl.edu 37 19 41084113 41084113 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138392.3 +1 validated p.P105H 1.000 58 0% 63 44.4% 41 43.9% probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain LTBP4 8425 genome.wustl.edu 37 19 41117783 41117783 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000308370 +1 known p.R758Q 0.020 55 0% 30 50% 3 0% possibly_damaging(0.478) tolerated(0.32) neutral(0.182) HMMSmart_EGF_CA,superfamily_Grow_fac_recept,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 LTBP4 8425 genome.wustl.edu 37 19 41133146 41133146 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000308370 +1 known p.E1484K 0.140 18 0% 15 60% 9 11.1% possibly_damaging(0.797) tolerated(0.31) neutral(0.327) NULL CYP2A6 1548 genome.wustl.edu 37 19 41356317 41356317 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000762.5 -1 reviewed p.G5 0.255 401 0% 105 44.8% 0 - - - - NULL CYP2A7P1 1550 genome.wustl.edu 37 19 41531992 41531992 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000301171 -1 known p.F138 0.973 29 0.000 7 0.714 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP2A13 1553 genome.wustl.edu 37 19 41601807 41601807 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000766.3 +1 reviewed p.T482 0.010 113 0% 85 54.1% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 AXL 558 genome.wustl.edu 37 19 41749594 41749594 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021913.3 +1 reviewed p.R507W 0.998 55 0% 66 45.5% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AXL 558 genome.wustl.edu 37 19 41759533 41759533 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021913.3 +1 reviewed p.F652L 1.000 138 0% 42 59.5% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HNRNPUL1 11100 genome.wustl.edu 37 19 41774163 41774163 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007040.3 +1 reviewed p.Y111D 1.000 214 0% 165 42.4% 135 55.5% possibly_damaging(0.85) tolerated(0.38) neutral(0.345) NULL TGFB1 7040 genome.wustl.edu 37 19 41848115 41848115 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000660.4 -1 reviewed p.S224 0.997 40 0% 38 47.4% 47 10.6% - - - HMMPfam_TGFb_propeptide ENSG00000229113 0 genome.wustl.edu 37 19 42027585 42027585 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000439847 -1 known p.R233I 0.114 160 0% 182 36.3% 5 0% - - - NULL CEACAM5 1048 genome.wustl.edu 37 19 42221426 42221426 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000398599 +1 known p.*333R 0.000 318 0% 198 33.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin ATP1A3 478 genome.wustl.edu 37 19 42471389 42471389 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000441343 -1 known p.R1009W 0.000 39 0% 17 64.7% 0 - unknown(0) deleterious(0) - NULL ATP1A3 478 genome.wustl.edu 37 19 42473692 42473692 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152296.3 -1 reviewed p.V861 1.000 142 0% 47 38.3% 0 - - - - HMMPfam_Cation_ATPase_C,superfamily_SSF81665 POU2F2 5452 genome.wustl.edu 37 19 42599721 42599721 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002698.2 -1 validated p.F294 1.000 48 0% 27 51.9% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like GSK3A 2931 genome.wustl.edu 37 19 42744142 42744142 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019884.2 -1 validated p.A146T 1.000 76 0% 111 46.8% 110 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase MEGF8 1954 genome.wustl.edu 37 19 42861662 42861662 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001410.2 +1 validated p.N1579I 1.000 24 0% 23 39.1% 12 41.6% probably_damaging(0.995) tolerated(0.44) deleterious(0.470) superfamily_Gal_oxid_central CEACAM8 1088 genome.wustl.edu 37 19 43097963 43097963 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001816.3 -1 validated p.L52I 0.070 502 0% 195 44.1% 0 - benign(0.403) deleterious(0.03) deleterious(0.494) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PSG8 440533 genome.wustl.edu 37 19 43268113 43268113 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182707.2 -1 validated p.D129Y 0.000 987 0.1% 402 41.8% 0 - benign(0.014) tolerated(0.53) neutral(0.008) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 PSG8 440533 genome.wustl.edu 37 19 43269700 43269700 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182707.2 -1 validated p.R12C 0.003 365 0% 107 43% 0 - probably_damaging(0.963) tolerated(0.14) deleterious(0.655) HMMPfam_V-set PSG1 5669 genome.wustl.edu 37 19 43382310 43382310 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006905.2 -1 validated p.L62R 0.000 863 0% 378 42.9% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PSG2 5670 genome.wustl.edu 37 19 43585162 43585162 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031246.2 -1 validated p.A101S 0.003 730 0% 316 12% 0 - benign(0.016) tolerated(0.13) neutral(0.253) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 PSG4 5672 genome.wustl.edu 37 19 43708088 43708088 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002780.3 -1 validated p.R127Q 0.000 871 0.1% 329 43.2% 1 0% benign(0.128) tolerated(0.42) neutral(0.025) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin XRCC1 7515 genome.wustl.edu 37 19 44048382 44048382 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006297.2 -1 reviewed p.F542L 1.000 78 0% 47 38.3% 75 36% possibly_damaging(0.931) tolerated(0.17) neutral(0.436) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain ZNF404 342908 genome.wustl.edu 37 19 44377326 44377326 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001033719.2 -1 validated p.R347I 0.001 95 0% 36 50% 0 - probably_damaging(0.997) tolerated(0.11) deleterious(0.738) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF230 7773 genome.wustl.edu 37 19 44514539 44514539 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006300.3 +1 validated p.F116L 0.000 133 0% 96 43.8% 4 0% benign(0) tolerated(0.32) neutral(0.024) NULL ZNF223 7766 genome.wustl.edu 37 19 44571309 44571309 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013361.4 +1 validated p.R443H 0.081 115 0% 121 52.1% 3 66.6% possibly_damaging(0.836) deleterious(0) deleterious(0.764) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF224 7767 genome.wustl.edu 37 19 44611127 44611127 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013398.2 +1 validated p.D272N 0.000 182 0% 235 48.5% 22 54.5% benign(0.253) tolerated(0.22) neutral(0.068) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF224 7767 genome.wustl.edu 37 19 44611466 44611466 + Missense_Mutation SNP T T G rs3208212 byCluster TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013398.2 +1 validated p.S385A 0.014 134 0% 192 44.8% 12 33.3% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF225 7768 genome.wustl.edu 37 19 44636353 44636353 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013362.2 +1 validated p.S529Y 0.000 191 0% 157 52.9% 1 0% possibly_damaging(0.85) tolerated(0.2) neutral(0.376) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF234 10780 genome.wustl.edu 37 19 44661764 44661764 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144824.1 +1 validated p.R532I 0.845 138 0% 102 38.2% 7 42.8% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF234 10780 genome.wustl.edu 37 19 44661890 44661890 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144824.1 +1 validated p.G574E 1.000 236 0% 111 48.6% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF233 353355 genome.wustl.edu 37 19 44777447 44777447 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181756.1 +1 provisional p.H212N 0.000 76 0% 96 46.9% 1 100% benign(0.251) tolerated(0.49) neutral(0.036) NULL ZNF229 7772 genome.wustl.edu 37 19 44946773 44946773 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014518.2 -1 validated p.D23Y 0.000 273 0.4% 91 45.1% 8 100% possibly_damaging(0.933) tolerated(0.06) deleterious(0.702) NULL ZNF180 7733 genome.wustl.edu 37 19 44980824 44980824 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013256.3 -1 validated p.R625I 0.994 342 0% 168 50.6% 25 52% 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-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013256.3 -1 validated p.R569I 1.000 379 0% 162 41.4% 17 17.6% 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 44981971 44981971 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013256.3 -1 validated p.E243* 0.000 109 0% 85 49.4% 9 100% - - - superfamily_C2H2 and C2HC zinc fingers CBLC 23624 genome.wustl.edu 37 19 45285708 45285708 + Missense_Mutation SNP G G C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012116.3 +1 validated p.V247L 1.000 38 0% 14 64.3% 49 48.9% probably_damaging(0.998) tolerated(0.05) deleterious(0.820) HMMPfam_Cbl_N3,superfamily_SH2 domain BCAM 4059 genome.wustl.edu 37 19 45322389 45322389 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005581.3 +1 reviewed p.L471 0.195 109 0% 26 23.1% 64 1.5% - - - HMMSmart_IG,HMMPfam_C2-set_2,superfamily_SSF48726 ERCC1 2067 genome.wustl.edu 37 19 45916996 45916996 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_202001.2 -1 reviewed p.E261A 1.000 116 0% 181 47.5% 63 42.8% benign(0.221) tolerated(0.75) neutral(0.024) superfamily_RuvA_2_like FOSB 2354 genome.wustl.edu 37 19 45973994 45973994 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006732.2 +1 reviewed p.S78 1.000 39 0.000 9 0.444 1 0% - - - NULL RTN2 6253 genome.wustl.edu 37 19 45997447 45997447 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005619.3 -1 reviewed p.F264C 0.957 54 0% 60 36.7% 1 100% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL VASP 7408 genome.wustl.edu 37 19 46024622 46024622 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003370.3 +1 reviewed p.V129A 0.070 62 0% 37 45.9% 54 35.1% unknown(0) tolerated(0.39) - NULL GPR4 2828 genome.wustl.edu 37 19 46094790 46094790 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005282.2 -1 validated p.S112L 1.000 51 0% 43 34.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 GPR4 2828 genome.wustl.edu 37 19 46094975 46094975 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005282.2 -1 validated p.N50K 1.000 44 0% 31 51.6% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000248985 0 genome.wustl.edu 37 19 46971535 46971535 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000503237 +1 novel NULL 0.967 8 0.000 32 0.500 17 58.8% - - - - ARHGAP35 2909 genome.wustl.edu 37 19 47421972 47421972 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004491.4 +1 reviewed p.Y14D 1.000 174 0% 102 36.3% 29 37.9% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL ARHGAP35 2909 genome.wustl.edu 37 19 47422257 47422257 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004491.4 +1 reviewed p.R109* 1.000 74 0% 74 48.6% 16 50% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ZC3H4 23211 genome.wustl.edu 37 19 47597691 47597691 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015168.1 -1 validated p.E112 1.000 476 0% 532 46.4% 26 53.8% - - - NULL SLC8A2 6543 genome.wustl.edu 37 19 47935469 47935469 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015063.2 -1 validated p.S782A 0.999 160 0% 47 42.6% 1 100% benign(0.012) tolerated(0.4) neutral(0.017) HMMPfam_Na_Ca_ex EHD2 30846 genome.wustl.edu 37 19 48229282 48229282 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014601.3 +1 reviewed p.A239V 1.000 111 0% 17 35.3% 14 0% benign(0.064) deleterious(0) neutral(0.449) superfamily_P-loop containing nucleoside triphosphate hydrolases EHD2 30846 genome.wustl.edu 37 19 48239720 48239720 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014601.3 +1 reviewed p.V337A 1.000 140 0% 73 41.1% 20 5% benign(0) tolerated(0.16) neutral(0.059) NULL SULT2A1 6822 genome.wustl.edu 37 19 48389455 48389455 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003167.3 -1 reviewed p.S20 0.001 256 0% 243 42% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ELSPBP1 64100 genome.wustl.edu 37 19 48522991 48522991 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022142.3 +1 reviewed p.S124Y 0.597 206 0% 68 35.3% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMSmart_SM00059,superfamily_Kringle-like ELSPBP1 64100 genome.wustl.edu 37 19 48525449 48525449 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022142.3 +1 reviewed p.G179 0.636 596 0% 171 38.6% 0 - - - - HMMSmart_SM00059,superfamily_Kringle-like CABP5 56344 genome.wustl.edu 37 19 48543996 48543996 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019855.3 -1 reviewed p.E35G 1.000 163 0% 53 43.4% 0 - possibly_damaging(0.578) deleterious(0) deleterious(0.643) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 PLA2G4C 8605 genome.wustl.edu 37 19 48598860 48598860 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003706.2 -1 reviewed p.E190D 0.926 55 0% 72 48.6% 0 - benign(0.138) tolerated(0.59) neutral(0.016) HMMPfam_PLA2_B,HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase CARD8 22900 genome.wustl.edu 37 19 48735048 48735048 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014959.3 -1 reviewed p.E32D 0.001 375 0% 257 44% 7 14.2% - - - NULL ZNF114 163071 genome.wustl.edu 37 19 48789404 48789404 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153608.1 +1 provisional p.E175K 0.000 53 0% 69 43.5% 1 0% benign(0) tolerated(1) - NULL CCDC114 93233 genome.wustl.edu 37 19 48800853 48800853 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144577.3 -1 validated p.E488D 0.008 71 0% 27 44.4% 1 0% benign(0.032) tolerated(0.5) neutral(0.011) NULL EMP3 2014 genome.wustl.edu 37 19 48830826 48830826 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001425.2 +1 validated p.C43R 1.000 133 0% 88 48.9% 37 2.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMP22_Claudin,PatternScan_PMP22_1 IZUMO1 284359 genome.wustl.edu 37 19 49244627 49244627 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182575.2 -1 validated p.M288T 0.009 52 0% 65 38.5% 1 100% benign(0.033) tolerated(0.14) neutral(0.251) NULL IZUMO1 284359 genome.wustl.edu 37 19 49247789 49247789 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182575.2 -1 validated p.L106 0.000 111 0% 100 55% 0 - - - - NULL BCAT2 587 genome.wustl.edu 37 19 49299748 49299748 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001190.3 -1 reviewed p.I359 0.999 142 0% 43 41.9% 61 49.1% - - - HMMPfam_Aminotran_4,superfamily_D-aminoacid aminotransferase-like PLP-dependent enzymes PPP1R15A 23645 genome.wustl.edu 37 19 49377041 49377041 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014330.3 +1 validated p.R184Q 0.001 476 0% 247 44.9% 157 43.9% possibly_damaging(0.945) tolerated(0.23) neutral(0.431) NULL PIH1D1 55011 genome.wustl.edu 37 19 49952617 49952617 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000416312 -1 known p.R151L 0.000 11 0% 17 47.1% 3 33.3% - - - NULL RPL13A 23521 genome.wustl.edu 37 19 49993501 49993501 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012423.2 +1 reviewed p.V34A 1.000 49 0% 44 47.7% 7996 50.1% benign(0.224) tolerated(0.07) neutral(0.341) HMMPfam_Ribosomal_L13,superfamily_Ribosomal_L13 CPT1C 126129 genome.wustl.edu 37 19 50200608 50200608 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152359.1 +1 provisional p.P56L 1.000 284 0% 136 48.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF473 25888 genome.wustl.edu 37 19 50548036 50548036 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001006656.1 +1 validated p.F112 0.001 79 0% 81 44.4% 9 55.5% - - - NULL LOC100287477 100287477 genome.wustl.edu 37 19 50562236 50562236 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343656.1 -1 model p.H475N 1.000 17 0% 22 54.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers IZUMO2 126123 genome.wustl.edu 37 19 50661550 50661550 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000377002 -1 known p.V159M 0.000 359 0% 123 49.6% 0 - - - - NULL MYBPC2 4606 genome.wustl.edu 37 19 50945448 50945448 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004533.3 +1 validated p.K260N 0.997 90 0% 64 35.9% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) HMMPfam_I-set,superfamily_SSF48726 MYBPC2 4606 genome.wustl.edu 37 19 50958843 50958843 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004533.3 +1 validated p.P760 0.102 117 0% 65 36.9% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like SHANK1 50944 genome.wustl.edu 37 19 51175328 51175328 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016148.2 -1 validated p.R874H 0.992 165 0% 114 24.6% 1 0% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL SHANK1 50944 genome.wustl.edu 37 19 51192473 51192473 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016148.2 -1 validated p.F676 1.000 131 0% 50 52% 1 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SHANK1 50944 genome.wustl.edu 37 19 51192554 51192554 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000391813 -1 known p.F36L 0.005 94 0% 36 50% 0 - unknown(0) deleterious(0.04) - superfamily_PDZ domain-like KLK1 3816 genome.wustl.edu 37 19 51323414 51323414 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002257.2 -1 reviewed p.E164D 0.000 97 0% 60 48.3% 4 75% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK8 11202 genome.wustl.edu 37 19 51501100 51501100 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144505.1 -1 reviewed p.I223 0.036 157 0% 101 18.8% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys KLK8 11202 genome.wustl.edu 37 19 51503777 51503777 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144505.1 -1 reviewed p.P90T 1.000 41 0% 27 51.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SIGLEC7 27036 genome.wustl.edu 37 19 51649321 51649321 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014385.2 +1 validated p.N324H 0.013 125 0% 81 51.9% 1 0% benign(0.026) tolerated(0.68) neutral(0.003) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin ETFB 2109 genome.wustl.edu 37 19 51848615 51848615 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001014763.1 -1 reviewed p.I297 0.413 142 0% 82 43.9% 94 40.4% - - - superfamily_SSF52402 SIGLEC10 89790 genome.wustl.edu 37 19 51917747 51917747 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033130.4 -1 validated p.T546 0.000 137 0% 48 39.6% 0 - - - - NULL SIGLEC10 89790 genome.wustl.edu 37 19 51918217 51918217 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033130.4 -1 validated p.F492 0.058 39 0.000 7 0.571 2 0% - - - superfamily_Immunoglobulin SIGLEC8 27181 genome.wustl.edu 37 19 51955792 51955792 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014442.2 -1 validated p.Y447 0.002 94 0% 64 40.6% 0 - - - - NULL SIGLEC8 27181 genome.wustl.edu 37 19 51957994 51957994 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014442.2 -1 validated p.V364 0.000 259 0.4% 92 39.1% 0 - - - - NULL SIGLEC8 27181 genome.wustl.edu 37 19 51961495 51961495 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014442.2 -1 validated p.F49L 0.000 302 0% 162 42% 0 - probably_damaging(0.953) tolerated(0.27) neutral(0.430) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIGLEC12 89858 genome.wustl.edu 37 19 52003469 52003469 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053003.2 -1 reviewed p.C171* 0.038 194 0% 88 39.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF175 7728 genome.wustl.edu 37 19 52090815 52090815 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007147.2 +1 validated p.K411Q 1.000 104 0% 96 46.9% 3 33.3% probably_damaging(0.979) tolerated(0.29) neutral(0.451) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF175 7728 genome.wustl.edu 37 19 52091067 52091067 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007147.2 +1 validated p.R495* 0.981 105 0% 72 44.4% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF175 7728 genome.wustl.edu 37 19 52091590 52091590 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007147.2 +1 validated p.R669I 0.963 90 0% 58 44.8% 2 0% possibly_damaging(0.92) deleterious(0) deleterious(0.816) superfamily_C2H2 and C2HC zinc fingers FPR3 2359 genome.wustl.edu 37 19 52327118 52327118 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002030.3 +1 validated p.F39 0.845 590 0% 34 35.3% 1 0% - - - superfamily_Family A G protein-coupled receptor-like ZNF649 65251 genome.wustl.edu 37 19 52394376 52394376 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023074.3 -1 validated p.R338Q 0.984 491 0.2% 183 18.6% 16 31.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF649 65251 genome.wustl.edu 37 19 52394854 52394854 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_023074.3 -1 validated p.E179* 0.000 379 0.3% 208 49% 6 0% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF615 284370 genome.wustl.edu 37 19 52496146 52496146 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198480.2 -1 provisional p.R728I 0.001 235 0% 127 44.1% 5 80% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF432 9668 genome.wustl.edu 37 19 52537082 52537082 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014650.2 -1 provisional p.R617Q 0.638 177 0% 135 44.4% 16 43.7% probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF432 9668 genome.wustl.edu 37 19 52537234 52537234 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014650.2 -1 provisional p.E566D 0.999 156 0% 134 38.8% 10 50% possibly_damaging(0.697) deleterious(0.02) deleterious(0.633) superfamily_SSF57667 ENSG00000245697 0 genome.wustl.edu 37 19 52568128 52568128 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000377305 +1 novel NULL 0.011 9 0.000 30 0.400 9 33.3% - - - - ZNF616 90317 genome.wustl.edu 37 19 52618795 52618795 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178523.3 -1 validated p.R541I 0.698 199 0% 95 45.3% 9 55.5% probably_damaging(0.992) tolerated(0.13) deleterious(0.700) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52618947 52618947 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178523.3 -1 validated p.E490D 1.000 170 0% 101 37.6% 10 30% probably_damaging(0.974) deleterious(0.05) deleterious(0.761) superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52619215 52619215 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178523.3 -1 validated p.R401Q 0.000 320 0% 112 45.5% 13 30.7% probably_damaging(0.989) tolerated(0.13) deleterious(0.692) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52658750 52658750 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102657.1 -1 provisional p.R729I 0.567 160 0% 109 42.2% 18 66.6% possibly_damaging(0.681) deleterious(0) deleterious(0.688) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52659047 52659047 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102657.1 -1 provisional p.R630I 0.017 98 0% 113 40.7% 9 66.6% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52660348 52660348 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102657.1 -1 provisional p.E196D 0.001 124 0% 202 41.1% 10 20% benign(0) tolerated(0.36) neutral(0.020) superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52663814 52663814 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001102657.1 -1 provisional p.E16* 0.184 195 0% 158 43.7% 8 37.5% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF766 90321 genome.wustl.edu 37 19 52793595 52793595 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010851.2 +1 validated p.R184I 0.094 53 0% 88 12.5% 14 14.2% benign(0.009) deleterious(0.01) neutral(0.406) superfamily_C2H2 and C2HC zinc fingers ZNF766 90321 genome.wustl.edu 37 19 52794420 52794420 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010851.2 +1 validated p.R459I 0.006 80 0% 141 55.3% 13 23% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52824960 52824960 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144684.2 +1 validated p.Q153K 0.000 74 0% 77 39% 10 50% benign(0.073) tolerated(0.67) neutral(0.007) NULL ZNF480 147657 genome.wustl.edu 37 19 52825755 52825755 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144684.2 +1 validated p.R418* 0.013 100 0% 62 45.2% 6 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52825904 52825904 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144684.2 +1 validated p.K467 0.000 151 0% 60 41.7% 8 87.5% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF610 162963 genome.wustl.edu 37 19 52856970 52856970 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173530.2 +1 validated p.F33L 0.954 237 0% 205 42.4% 15 20% possibly_damaging(0.942) deleterious(0) deleterious(0.832) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF610 162963 genome.wustl.edu 37 19 52869470 52869470 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173530.2 +1 validated p.R280I 0.143 111 0% 117 50.4% 13 53.8% possibly_damaging(0.951) tolerated(0.27) neutral(0.427) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF880 400713 genome.wustl.edu 37 19 52888216 52888216 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145434.1 +1 validated p.E461D 0.866 180 0% 168 41.1% 15 20% benign(0.284) deleterious(0.03) neutral(0.452) superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52919808 52919808 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032423.2 +1 validated p.L568R 0.000 147 0% 110 42.7% 29 51.7% benign(0.005) tolerated(0.47) neutral(0.011) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000248326 0 genome.wustl.edu 37 19 53015928 53015928 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000502966 -1 novel NULL 0.002 48 0% 76 40.8% 1 0% - - - - ZNF701 55762 genome.wustl.edu 37 19 53077412 53077412 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018260.2 +1 validated p.L4 0.008 543 0% 566 46.3% 1 0% - - - superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF83 55769 genome.wustl.edu 37 19 53117228 53117228 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105549.1 -1 validated p.R197I 0.000 234 0% 124 50.8% 22 59% benign(0.302) deleterious(0.05) neutral(0.439) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF83 55769 genome.wustl.edu 37 19 53117396 53117396 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105549.1 -1 validated p.R141I 0.852 185 0% 119 41.2% 22 27.2% possibly_damaging(0.913) tolerated(0.08) deleterious(0.664) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF611 81856 genome.wustl.edu 37 19 53209626 53209626 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030972.3 -1 validated p.E228* 0.891 239 0% 325 44.6% 9 33.3% - - - superfamily_C2H2 and C2HC zinc fingers ZNF611 81856 genome.wustl.edu 37 19 53209983 53209983 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030972.3 -1 validated p.E109* 0.003 241 0% 282 40.1% 3 100% - - - NULL ZNF600 162966 genome.wustl.edu 37 19 53269960 53269960 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198457.2 -1 validated p.R350I 0.127 237 0% 159 49.7% 12 33.3% benign(0.424) tolerated(0.16) neutral(0.197) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF600 162966 genome.wustl.edu 37 19 53270364 53270364 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198457.2 -1 validated p.E215D 1.000 479 0% 278 41.4% 11 54.5% possibly_damaging(0.565) deleterious(0.05) deleterious(0.538) superfamily_C2H2 and C2HC zinc fingers LOC388559 388559 genome.wustl.edu 37 19 53410990 53410990 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_496322.5 -1 model p.F177L 0.000 109 0% 272 44.9% 3 33.3% - - - NULL ZNF415 55786 genome.wustl.edu 37 19 53612171 53612171 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018355.2 -1 validated p.R376I 0.121 177 0% 146 43.2% 7 71.4% benign(0.115) tolerated(0.08) neutral(0.309) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF347 84671 genome.wustl.edu 37 19 53644478 53644478 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032584.2 -1 validated p.H535N 1.000 262 0% 147 42.2% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF347 84671 genome.wustl.edu 37 19 53645356 53645356 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032584.2 -1 validated p.F242C 0.000 154 0% 173 34.7% 1 100% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL ZNF665 79788 genome.wustl.edu 37 19 53668552 53668552 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024733.3 -1 provisional p.T397 0.954 210 0% 278 45% 1 0% - - - superfamily_C2H2 and C2HC zinc fingers ZNF665 79788 genome.wustl.edu 37 19 53669091 53669091 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024733.3 -1 provisional p.R218C 0.000 186 0% 226 41.2% 1 0% probably_damaging(0.985) tolerated(0.15) deleterious(0.673) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF677 342926 genome.wustl.edu 37 19 53740594 53740594 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182609.2 -1 provisional p.N462 0.025 77 0% 118 39.8% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 VN1R2 317701 genome.wustl.edu 37 19 53762652 53762652 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173856.2 +1 validated p.D342N 0.000 299 0.3% 177 41.8% 0 - benign(0.081) tolerated(0.54) neutral(0.013) superfamily_SSF81321 ZNF845 91664 genome.wustl.edu 37 19 53854397 53854397 + Missense_Mutation SNP G G A rs10415799 byCluster;byFrequency;by2Hit2Allele;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138374.1 +1 validated p.E157K 0.002 105 0% 222 42.3% 5 40% benign(0.017) tolerated(0.55) neutral(0.007) NULL ZNF845 91664 genome.wustl.edu 37 19 53855463 53855463 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138374.1 +1 validated p.R512I 0.000 64 0% 92 37% 7 42.8% benign(0.034) tolerated(0.2) neutral(0.051) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF845 91664 genome.wustl.edu 37 19 53856821 53856821 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138374.1 +1 validated p.H965N 0.906 53 0% 99 48.5% 7 57.1% possibly_damaging(0.729) deleterious(0.01) deleterious(0.671) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF813 126017 genome.wustl.edu 37 19 53993721 53993721 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004301.3 +1 validated p.S79R 0.058 163 0% 154 42.2% 2 50% benign(0.07) tolerated(0.07) neutral(0.324) NULL ZNF813 126017 genome.wustl.edu 37 19 53994374 53994374 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004301.3 +1 validated p.E296D 1.000 195 0% 146 43.8% 2 0% benign(0.004) tolerated(0.06) neutral(0.323) superfamily_SSF57667 MIR520E 574461 genome.wustl.edu 37 19 54178972 54178972 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000384867 +1 known NULL 0.026 118 0% 75 50.7% 0 - - - - - MIR526B 574468 genome.wustl.edu 37 19 54197716 54197716 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000384848 +1 known NULL 0.001 262 0% 129 44.2% 0 - - - - - MIR520C 574476 genome.wustl.edu 37 19 54210759 54210759 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000385005 +1 known NULL 0.020 219 0% 212 40.1% 0 - - - - - MIR524 574478 genome.wustl.edu 37 19 54214290 54214290 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000385242 +1 known NULL 0.075 190 0% 197 47.2% 0 - - - - - MIR516B2 574485 genome.wustl.edu 37 19 54228702 54228702 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000385190 +1 known NULL 0.207 206 0% 225 43.6% 0 - - - - - MIR518E 574487 genome.wustl.edu 37 19 54233139 54233139 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000385252 +1 known NULL 0.037 57 0% 60 43.3% 0 - - - - - MIR516A1 574498 genome.wustl.edu 37 19 54260045 54260045 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000385033 +1 known NULL 0.288 187 0% 192 25.5% 0 - - - - - NLRP12 91662 genome.wustl.edu 37 19 54313965 54313965 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144687.2 -1 reviewed p.E316D 0.897 35 0% 42 42.9% 0 - benign(0.344) deleterious(0.03) deleterious(0.473) HMMPfam_NACHT CACNG6 59285 genome.wustl.edu 37 19 54501553 54501553 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145814.1 +1 reviewed p.R131I 1.000 90 0% 62 46.8% 0 - probably_damaging(0.998) tolerated(0.15) deleterious(0.716) NULL PRPF31 26121 genome.wustl.edu 37 19 54621754 54621754 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015629.3 +1 reviewed p.I32 0.984 80 0% 140 50% 122 45% - - - NULL LILRA6 79168 genome.wustl.edu 37 19 54744347 54744347 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024318.2 -1 validated p.F354S 0.590 99 0% 118 37.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 LILRA4 23547 genome.wustl.edu 37 19 54849828 54849828 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012276.3 -1 reviewed p.N65S 0.000 101 0% 126 54% 1 0% benign(0.001) tolerated(0.95) - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin LILRA2 11027 genome.wustl.edu 37 19 55085366 55085366 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001130917.1 +1 validated p.V7 0.013 287 0% 151 41.1% 1 0% - - - NULL LILRA1 11024 genome.wustl.edu 37 19 55105721 55105721 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006863.1 +1 provisional p.I4 0.000 175 0% 167 44.3% 0 - - - - NULL LILRB1 10859 genome.wustl.edu 37 19 55143459 55143459 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081637.1 +1 reviewed p.Q144 0.126 172 0% 131 39.7% 0 - - - - HMMPfam_ig,superfamily_SSF48726 LILRB4 11006 genome.wustl.edu 37 19 55177358 55177358 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006847.3 +1 reviewed p.R284C 0.000 162 0% 50 42% 26 0% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) NULL KIR2DL1 3802 genome.wustl.edu 37 19 55285022 55285022 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014218.2 +1 reviewed p.S103Y 0.022 589 0% 142 92.3% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_SSF48726 KIR3DL1 3811 genome.wustl.edu 37 19 55340890 55340890 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013289.2 +1 reviewed p.L359I 0.001 1267 0% 683 42.5% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL KIR3DL2 3812 genome.wustl.edu 37 19 55378055 55378055 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006737.2 +1 reviewed p.R413C 0.001 889 0% 375 42.9% 0 - benign(0.03) tolerated(0.13) neutral(0.254) NULL NCR1 9437 genome.wustl.edu 37 19 55417544 55417544 + RNA SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_027041.1 +1 validated NULL 0.143 139 0% 34 35.3% 0 - - - - - NCR1 9437 genome.wustl.edu 37 19 55424096 55424096 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004829.5 +1 validated p.R258W 0.000 375 0% 113 46.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP7 199713 genome.wustl.edu 37 19 55435185 55435185 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127255.1 -1 reviewed p.E1013* 0.021 229 0% 251 37.1% 1 100% - - - superfamily_RNI-like NLRP7 199713 genome.wustl.edu 37 19 55449476 55449476 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127255.1 -1 reviewed p.D689Y 0.000 72 0% 56 39.3% 0 - benign(0.247) deleterious(0.04) neutral(0.374) superfamily_RNI-like NLRP2 55655 genome.wustl.edu 37 19 55497679 55497679 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017852.3 +1 validated p.L788I 0.895 72 0% 108 38% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNI-like NLRP2 55655 genome.wustl.edu 37 19 55512244 55512244 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017852.3 +1 validated p.S1056Y 0.004 101 0% 125 44.8% 1 0% probably_damaging(0.979) tolerated(0.1) deleterious(0.708) NULL PTPRH 5794 genome.wustl.edu 37 19 55713638 55713638 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002842.3 -1 validated p.I313 0.905 354 0% 105 50.5% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRH 5794 genome.wustl.edu 37 19 55716737 55716737 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002842.3 -1 validated p.K192N 0.000 326 0.3% 139 46% 0 - possibly_damaging(0.852) tolerated(0.39) neutral(0.344) HMMPfam_fn3,HMMSmart_SM00060 ZNF628 89887 genome.wustl.edu 37 19 55995476 55995476 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033113.2 +1 validated p.Q968H 0.741 10 0.000 9 0.778 16 56.2% unknown(0) deleterious(0) - NULL NLRP9 338321 genome.wustl.edu 37 19 56228179 56228179 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176820.2 -1 reviewed p.L749 0.000 30 0% 99 43.4% 0 - - - - HMMSmart_SM00368,superfamily_RNI-like NLRP9 338321 genome.wustl.edu 37 19 56244017 56244017 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176820.2 -1 reviewed p.S394R 0.001 208 0% 144 43.8% 0 - benign(0.047) deleterious(0.05) neutral(0.348) NULL NLRP9 338321 genome.wustl.edu 37 19 56244282 56244282 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176820.2 -1 reviewed p.S305 0.056 109 0% 105 46.7% 0 - - - - HMMPfam_NACHT ENSG00000229292 0 genome.wustl.edu 37 19 56284098 56284098 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000341750 +1 known p.C139 0.155 393 0% 112 16.1% 0 - - - - HMMSmart_SM00589 NLRP4 147945 genome.wustl.edu 37 19 56369747 56369747 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_134444.4 +1 validated p.E330* 0.000 41 0% 36 44.4% 0 - - - - NULL NLRP4 147945 genome.wustl.edu 37 19 56388468 56388468 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_134444.4 +1 validated p.D878Y 0.015 377 0% 148 46.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00368,superfamily_RNI-like NLRP13 126204 genome.wustl.edu 37 19 56407479 56407479 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176810.2 -1 validated p.A988 0.000 185 0% 62 51.6% 0 - - - - superfamily_SSF52047 NLRP13 126204 genome.wustl.edu 37 19 56423965 56423965 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176810.2 -1 validated p.E406 0.000 147 0% 85 50.6% 0 - - - - NULL NLRP13 126204 genome.wustl.edu 37 19 56424141 56424141 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176810.2 -1 validated p.L348V 0.015 173 0% 88 40.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NACHT LOC646698 646698 genome.wustl.edu 37 19 56758852 56758852 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001725568.1 +1 model p.E494* 0.002 30 0% 27 55.6% 17 11.7% - - - NULL ZNF582 147948 genome.wustl.edu 37 19 56895388 56895388 + Silent SNP G G A rs185773528 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144690.1 -1 provisional p.T466 0.000 392 0.3% 281 44.1% 4 75% - - - NULL ZNF582 147948 genome.wustl.edu 37 19 56895679 56895679 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144690.1 -1 provisional p.C369* 0.021 118 0% 81 44.4% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF583 147949 genome.wustl.edu 37 19 56935061 56935061 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152478.2 +1 validated p.I345S 0.997 368 0% 105 45.7% 12 25% possibly_damaging(0.852) deleterious(0) deleterious(0.772) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF583 147949 genome.wustl.edu 37 19 56935142 56935142 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152478.2 +1 validated p.R372K 1.000 322 0% 94 39.4% 9 11.1% possibly_damaging(0.859) tolerated(0.06) deleterious(0.655) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF583 147949 genome.wustl.edu 37 19 56935394 56935394 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152478.2 +1 validated p.R456I 0.240 182 0% 59 37.3% 10 70% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF667 63934 genome.wustl.edu 37 19 56952992 56952992 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022103.3 -1 validated p.L458I 0.781 100 0% 60 38.3% 8 12.5% benign(0.054) deleterious(0.01) neutral(0.409) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF667 63934 genome.wustl.edu 37 19 56969614 56969614 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022103.3 -1 validated p.L55I 0.882 154 0% 58 58.6% 6 50% possibly_damaging(0.892) tolerated(0.48) neutral(0.362) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF471 57573 genome.wustl.edu 37 19 57035887 57035887 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020813.2 +1 validated p.E151* 0.001 68 0% 115 44.3% 3 66.6% - - - NULL ZFP28 140612 genome.wustl.edu 37 19 57065728 57065728 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020828.1 +1 provisional p.R525I 0.991 65 0% 50 32% 5 20% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP28 140612 genome.wustl.edu 37 19 57066500 57066500 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020828.1 +1 provisional p.K782N 0.998 175 0% 110 47.3% 5 100% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_SSF57667 ZNF470 388566 genome.wustl.edu 37 19 57086053 57086053 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001668.3 +1 validated p.E78D 0.573 136 0% 83 39.8% 6 16.6% benign(0) tolerated(0.23) neutral(0.042) HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF470 388566 genome.wustl.edu 37 19 57089493 57089493 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001668.3 +1 validated p.E566K 0.127 156 0% 61 36.1% 9 22.2% benign(0.018) tolerated(0.59) neutral(0.005) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZIM2 23619 genome.wustl.edu 37 19 57293343 57293343 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015363.4 -1 reviewed p.N208K 0.996 194 0% 27 37% 0 - unknown(0) deleterious(0.02) - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box PEG3 5178 genome.wustl.edu 37 19 57325289 57325289 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006210.2 -1 reviewed p.C1507 0.115 332 0% 68 39.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PEG3 5178 genome.wustl.edu 37 19 57325945 57325945 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006210.2 -1 reviewed p.E1289* 0.626 238 0% 68 45.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PEG3 5178 genome.wustl.edu 37 19 57326262 57326262 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006210.2 -1 reviewed p.R1183I 0.035 270 0% 80 46.3% 1 0% possibly_damaging(0.951) tolerated(0.08) deleterious(0.694) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PEG3 5178 genome.wustl.edu 37 19 57327049 57327049 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006210.2 -1 reviewed p.E921K 0.000 179 0% 75 37.3% 0 - probably_damaging(0.954) tolerated(1) neutral(0.398) NULL PEG3 5178 genome.wustl.edu 37 19 57327232 57327232 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006210.2 -1 reviewed p.E860* 0.995 192 0% 97 46.4% 0 - - - - NULL PEG3 5178 genome.wustl.edu 37 19 57328294 57328294 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006210.2 -1 reviewed p.E506* 0.264 466 0% 133 46.6% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PEG3 5178 genome.wustl.edu 37 19 57334151 57334151 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006210.2 -1 reviewed p.R179C 0.804 231 0% 72 45.8% 0 - benign(0.028) deleterious(0) neutral(0.446) NULL USP29 57663 genome.wustl.edu 37 19 57641066 57641066 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020903.2 +1 validated p.F341L 0.041 56 0% 56 50% 0 - benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_UCH,superfamily_SSF54001 USP29 57663 genome.wustl.edu 37 19 57641471 57641471 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020903.2 +1 validated p.F476L 0.935 125 0% 157 22.9% 0 - probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMPfam_UCH,superfamily_SSF54001 USP29 57663 genome.wustl.edu 37 19 57642590 57642590 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020903.2 +1 validated p.Q849H 0.970 101 0% 53 43.4% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_UCH,superfamily_SSF54001 ZIM3 114026 genome.wustl.edu 37 19 57646877 57646877 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052882.1 -1 provisional p.K276N 1.000 190 0% 195 46.2% 0 - possibly_damaging(0.639) deleterious(0.01) deleterious(0.629) superfamily_SSF57667 ZIM3 114026 genome.wustl.edu 37 19 57646993 57646993 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052882.1 -1 provisional p.L238I 0.012 237 0% 198 48% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DUXA 503835 genome.wustl.edu 37 19 57669740 57669740 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012729.1 -1 validated p.E132* 0.994 123 0% 136 45.6% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like DUXA 503835 genome.wustl.edu 37 19 57672040 57672040 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012729.1 -1 validated p.E51* 0.118 271 0% 468 91.5% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ZNF264 9422 genome.wustl.edu 37 19 57723537 57723537 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003417.4 +1 reviewed p.L358I 0.102 157 0% 59 47.5% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF805 390980 genome.wustl.edu 37 19 57765994 57765994 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145078.1 +1 validated p.L470I 1.000 114 0% 81 42% 7 85.7% benign(0.002) tolerated(0.55) neutral(0.007) NULL LOC100288211 100288211 genome.wustl.edu 37 19 57828814 57828814 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343660.1 -1 model p.E39 1.000 239 0% 236 43.6% 0 - - - - HMMPfam_DUF862 ZNF304 57343 genome.wustl.edu 37 19 57868613 57868613 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020657.2 +1 validated p.K459R 0.013 214 0.5% 88 43.2% 8 37.5% probably_damaging(0.987) tolerated(0.16) deleterious(0.496) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TRAPPC2P1 10597 genome.wustl.edu 37 19 57876539 57876539 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_002166.1 +1 provisional NULL 1.000 95 0% 191 38.7% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) - TRAPPC2P1 10597 genome.wustl.edu 37 19 57876598 57876598 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_002166.1 +1 provisional NULL 1.000 88 0% 175 55.4% 8 62.5% benign(0) tolerated(0.21) neutral(0.044) - LOC100129081 100129081 genome.wustl.edu 37 19 57910417 57910417 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001718521.2 -1 model p.L223F 0.000 226 0% 81 49.4% 14 64.2% - - - NULL ZNF749 388567 genome.wustl.edu 37 19 57955495 57955495 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001023561.2 +1 provisional p.E327* 0.001 163 0% 58 43.1% 2 0% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF773 374928 genome.wustl.edu 37 19 58018435 58018435 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198542.1 +1 provisional p.V324 0.543 315 0% 186 37.1% 14 21.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF549 256051 genome.wustl.edu 37 19 58049531 58049531 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153263.1 +1 provisional p.G374W 1.000 176 0% 103 41.7% 5 40% benign(0.026) deleterious(0) neutral(0.446) superfamily_C2H2 and C2HC zinc fingers ZNF550 162972 genome.wustl.edu 37 19 58058582 58058582 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039654.1 -1 provisional p.D303Y 0.004 139 0% 114 39.5% 8 50% benign(0.296) deleterious(0) deleterious(0.536) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZIK1 284307 genome.wustl.edu 37 19 58102522 58102522 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010879.2 +1 provisional p.S448F 0.000 198 0% 132 43.2% 0 - benign(0.407) tolerated(0.42) neutral(0.146) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes ZNF530 348327 genome.wustl.edu 37 19 58117583 58117583 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020880.3 +1 validated p.Q230H 0.000 103 1% 77 42.9% 1 0% benign(0.376) tolerated(0.06) neutral(0.443) superfamily_SSF57667 ZNF134 7693 genome.wustl.edu 37 19 58132662 58132662 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003435.3 +1 provisional p.R392I 0.926 180 0.6% 89 43.8% 17 41.1% probably_damaging(0.966) deleterious(0.05) deleterious(0.753) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF211 10520 genome.wustl.edu 37 19 58152349 58152349 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006385.3 +1 validated p.S178R 0.000 154 0% 54 57.4% 6 50% benign(0.019) tolerated(0.41) neutral(0.016) NULL ZNF551 90233 genome.wustl.edu 37 19 58198683 58198683 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138347.3 +1 validated p.K331R 0.000 183 0% 117 47.9% 5 40% probably_damaging(0.975) tolerated(0.46) neutral(0.429) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF586 54807 genome.wustl.edu 37 19 58290764 58290764 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017652.2 +1 validated p.S270* 0.503 160 0% 156 40.4% 13 46.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF814 730051 genome.wustl.edu 37 19 58384254 58384254 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144989.1 -1 validated p.K835T 0.626 400 0% 249 49.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF417 147687 genome.wustl.edu 37 19 58420218 58420218 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152475.2 -1 validated p.K476N 0.000 318 0% 213 48.8% 5 60% benign(0.226) tolerated(0.19) neutral(0.072) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF417 147687 genome.wustl.edu 37 19 58420483 58420483 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152475.2 -1 validated p.S388Y 0.524 435 0% 251 47% 3 33.3% possibly_damaging(0.908) deleterious(0.02) deleterious(0.744) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF418 147686 genome.wustl.edu 37 19 58438212 58438212 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133460.1 -1 provisional p.R446Q 0.000 245 0% 198 46% 2 50% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF606 80095 genome.wustl.edu 37 19 58489681 58489681 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025027.3 -1 validated p.E789D 1.000 68 0% 98 51% 9 55.5% benign(0) tolerated(0.24) neutral(0.037) superfamily_C2H2 and C2HC zinc fingers ZNF329 79673 genome.wustl.edu 37 19 58640035 58640035 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024620.3 -1 validated p.R279K 1.000 75 0% 213 40.4% 11 36.3% benign(0.039) tolerated(0.15) neutral(0.243) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C20orf96 140680 genome.wustl.edu 37 20 258995 258995 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153269.1 -1 predicted p.E181* 0.464 101 0% 254 47.2% 56 12.5% - - - NULL CSNK2A1 1457 genome.wustl.edu 37 20 485767 485767 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001895.3 -1 reviewed p.L70I 1.000 125 0% 275 41.5% 44 40.9% possibly_damaging(0.929) deleterious(0.02) deleterious(0.759) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SNPH 9751 genome.wustl.edu 37 20 1277836 1277836 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014723.2 +1 reviewed p.S33L 1.000 60 0% 12 41.7% 0 - possibly_damaging(0.454) tolerated(0.05) deleterious(0.494) NULL SIRPB2 284759 genome.wustl.edu 37 20 1460544 1460544 + Silent SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001122962.1 -1 validated p.I84 0.995 145 0% 76 40.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIRPB1 10326 genome.wustl.edu 37 20 1600556 1600556 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135844.1 -1 reviewed p.S12I 0.000 177 0% 46 45.7% 0 - benign(0.014) tolerated(0.37) neutral(0.019) NULL ZNF343 79175 genome.wustl.edu 37 20 2464058 2464058 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024325.4 -1 validated p.N517D 0.986 286 0% 117 45.3% 16 37.5% benign(0.022) deleterious(0.01) neutral(0.407) superfamily_C2H2 and C2HC zinc fingers TMC2 117532 genome.wustl.edu 37 20 2598135 2598135 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000435863 +1 known p.F142L 0.000 10 0.000 7 0.571 0 - - - - NULL NOP56 10528 genome.wustl.edu 37 20 2635400 2635400 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006392.2 +1 reviewed p.R126C 1.000 45 0% 78 41% 114 49.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS16 64601 genome.wustl.edu 37 20 2842490 2842490 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022575.2 +1 reviewed p.L313 0.935 51 0% 70 55.7% 31 41.9% - - - HMMPfam_Vps16_N VPS16 64601 genome.wustl.edu 37 20 2843543 2843543 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022575.2 +1 reviewed p.R432W 0.977 40 0% 39 43.6% 26 69.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GNRH2 2797 genome.wustl.edu 37 20 3025459 3025459 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001501.1 +1 reviewed p.R97* 0.269 8 0.000 11 0.636 0 - - - - NULL C20orf194 25943 genome.wustl.edu 37 20 3298959 3298959 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009984.1 -1 validated p.S482Y 1.000 60 0% 57 33.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAM33 80332 genome.wustl.edu 37 20 3655727 3655727 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025220.2 -1 reviewed p.E94* 1.000 18 0% 22 45.5% 0 - - - - HMMPfam_Pep_M12B_propep RASSF2 9770 genome.wustl.edu 37 20 4771127 4771127 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014737.2 -1 reviewed p.F169 1.000 76 0% 48 39.6% 9 55.5% - - - NULL RASSF2 9770 genome.wustl.edu 37 20 4778660 4778660 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014737.2 -1 reviewed p.R44Q 1.000 215 0% 167 44.9% 3 0% probably_damaging(0.999) tolerated(0.29) deleterious(0.519) NULL SLC23A2 9962 genome.wustl.edu 37 20 4883190 4883190 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005116.5 -1 reviewed p.E74D 1.000 76 0% 39 17.9% 5 20% benign(0) tolerated(0.09) neutral(0.296) NULL PCNA 5111 genome.wustl.edu 37 20 5099316 5099316 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002592.2 -1 reviewed p.E109D 0.989 149 0% 247 43.7% 300 41.3% benign(0) tolerated(1) - HMMPfam_PCNA_N,superfamily_DNA clamp PROKR2 128674 genome.wustl.edu 37 20 5282830 5282830 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144773.2 -1 reviewed p.K337N 1.000 214 0% 88 53.4% 0 - possibly_damaging(0.948) tolerated(0.85) neutral(0.392) superfamily_SSF81321 C20orf196 149840 genome.wustl.edu 37 20 5843675 5843675 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152504.2 +1 predicted p.S62R 0.000 45 0% 31 38.7% 13 69.2% possibly_damaging(0.846) deleterious(0.05) deleterious(0.670) NULL CHGB 1114 genome.wustl.edu 37 20 5903504 5903504 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001819.2 +1 reviewed p.E238 0.999 160 0% 92 37% 0 - - - - HMMPfam_Granin CHGB 1114 genome.wustl.edu 37 20 5904270 5904270 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001819.2 +1 reviewed p.E494* 0.008 132 0% 59 52.5% 0 - - - - HMMPfam_Granin MCM8 84515 genome.wustl.edu 37 20 5974963 5974963 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032485.4 +1 reviewed p.F817V 1.000 55 0% 100 45% 13 61.5% benign(0.009) tolerated(0.24) neutral(0.038) NULL FERMT1 55612 genome.wustl.edu 37 20 6069726 6069726 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017671.4 -1 reviewed p.L384V 0.999 231 0% 288 39.2% 7 71.4% benign(0) tolerated(0.1) neutral(0.286) HMMPfam_PH,HMMSmart_SM00233,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like BMP2 650 genome.wustl.edu 37 20 6759008 6759008 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001200.2 +1 reviewed p.E155* 1.000 19 0% 50 46% 15 46.6% - - - HMMPfam_TGFb_propeptide PLCB1 23236 genome.wustl.edu 37 20 8862337 8862337 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015192.2 +1 reviewed p.F1164L 0.114 116 0% 40 47.5% 20 55% benign(0.026) tolerated(0.55) neutral(0.008) HMMPfam_PLC-beta_C PAK7 57144 genome.wustl.edu 37 20 9520225 9520225 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020341.3 -1 reviewed p.V682M 1.000 262 0.8% 60 38.3% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PAK7 57144 genome.wustl.edu 37 20 9538358 9538358 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020341.3 -1 reviewed p.T547N 1.000 159 0% 49 38.8% 0 - unknown(0) deleterious(0) - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ANKRD5 63926 genome.wustl.edu 37 20 10018998 10018998 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022096.4 +1 validated p.L17I 1.000 66 0% 45 40% 10 10% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_Ankyrin repeat SNAP25 6616 genome.wustl.edu 37 20 10280021 10280021 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003081.2 +1 reviewed p.I171 0.927 137 0% 20 65% 1 0% - - - HMMPfam_SNARE,HMMSmart_SM00397 JAG1 182 genome.wustl.edu 37 20 10621522 10621522 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000214.2 -1 reviewed p.I1036 0.705 167 0% 163 46.6% 10 40% - - - NULL BTBD3 22903 genome.wustl.edu 37 20 11903917 11903917 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014962.2 +1 validated p.R391H 1.000 106 0% 43 62.8% 38 50% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_PHR ISM1 140862 genome.wustl.edu 37 20 13273053 13273053 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080826.1 +1 validated p.E274K 1.000 415 0% 186 48.4% 19 15.7% possibly_damaging(0.923) tolerated(0.07) deleterious(0.692) NULL ESF1 51575 genome.wustl.edu 37 20 13755840 13755840 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016649.3 -1 provisional p.S371* 1.000 117 0% 201 43.8% 8 0% - - - NULL SEL1L2 80343 genome.wustl.edu 37 20 13868480 13868480 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025229.1 -1 validated p.S227L 1.000 168 0% 213 45.5% 0 - benign(0.323) tolerated(0.62) neutral(0.105) HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901 KIF16B 55614 genome.wustl.edu 37 20 16354934 16354934 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024704.3 -1 validated p.E1106D 0.339 116 0% 55 58.2% 6 50% possibly_damaging(0.799) tolerated(0.48) neutral(0.311) NULL KIF16B 55614 genome.wustl.edu 37 20 16506742 16506742 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024704.3 -1 validated p.E76* 1.000 199 0% 104 44.2% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases SNRPB2 6629 genome.wustl.edu 37 20 16712828 16712828 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003092.3 +1 reviewed p.Y28 1.000 185 0% 111 47.7% 86 48.8% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PCSK2 5126 genome.wustl.edu 37 20 17434458 17434458 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002594.2 +1 reviewed p.C319 0.890 81 0% 30 56.7% 0 - - - - HMMPfam_Peptidase_S8,superfamily_Subtilisin-like SNX5 27131 genome.wustl.edu 37 20 17930973 17930973 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014426.2 -1 reviewed p.S226Y 1.000 109 0% 94 46.8% 85 55.2% possibly_damaging(0.78) deleterious(0) deleterious(0.736) HMMPfam_Vps5 CSRP2BP 57325 genome.wustl.edu 37 20 18142572 18142572 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020536.4 +1 reviewed p.R264Q 1.000 64 0% 63 20.6% 20 30% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL CSRP2BP 57325 genome.wustl.edu 37 20 18163814 18163814 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020536.4 +1 reviewed p.I619S 1.000 129 0% 124 41.9% 23 39.1% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL ZNF133 7692 genome.wustl.edu 37 20 18296661 18296661 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001083330.1 +1 validated p.R388Q 0.963 101 0% 35 54.3% 27 37% benign(0.033) tolerated(0.19) neutral(0.051) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SLC24A3 57419 genome.wustl.edu 37 20 19665811 19665811 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020689.3 +1 validated p.I377S 0.952 174 0% 107 49.5% 8 62.5% benign(0.002) tolerated(0.76) neutral(0.001) NULL C20orf26 26074 genome.wustl.edu 37 20 20054952 20054952 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015585.3 +1 validated p.N101H 1.000 357 0% 151 45.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL XRN2 22803 genome.wustl.edu 37 20 21327089 21327089 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012255.3 +1 reviewed p.K522N 0.995 218 0% 91 37.4% 82 41.4% possibly_damaging(0.903) deleterious(0.02) deleterious(0.741) NULL GZF1 64412 genome.wustl.edu 37 20 23345449 23345449 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022482.3 +1 validated p.F143L 1.000 72 0% 102 41.2% 11 36.3% benign(0.428) tolerated(0.37) neutral(0.158) NULL GZF1 64412 genome.wustl.edu 37 20 23351031 23351031 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022482.3 +1 validated p.T697A 0.730 160 0% 30 33.3% 15 73.3% benign(0) tolerated(0.9) - NULL CST3 1471 genome.wustl.edu 37 20 23615961 23615961 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000099.2 -1 reviewed p.R96Q 0.663 188 0% 94 44.7% 565 31.3% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 CST1 1469 genome.wustl.edu 37 20 23729739 23729739 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001898.2 -1 reviewed p.D86N 0.024 302 0% 107 36.4% 17 35.2% possibly_damaging(0.67) tolerated(0.11) deleterious(0.509) HMMPfam_Cystatin,HMMSmart_SM00043,PatternScan_CYSTATIN,superfamily_Cystatin/monellin VSX1 30813 genome.wustl.edu 37 20 25057171 25057171 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014588.4 -1 reviewed p.S275F 0.994 83 0% 87 56.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NINL 22981 genome.wustl.edu 37 20 25470566 25470566 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025176.4 -1 validated p.S514L 0.259 228 0.4% 153 52.9% 30 46.6% possibly_damaging(0.888) tolerated(0.12) deleterious(0.608) NULL NINL 22981 genome.wustl.edu 37 20 25484639 25484639 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_025176.4 -1 validated p.L270 0.003 103 0% 148 43.2% 20 70% - - - superfamily_SSF47473 ZNF337 26152 genome.wustl.edu 37 20 25656453 25656453 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015655.2 -1 validated p.R491W 0.021 265 0% 84 44% 17 58.8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF337 26152 genome.wustl.edu 37 20 25657018 25657018 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015655.2 -1 validated p.N302 0.000 279 0% 106 42.5% 10 30% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FRG1B 284802 genome.wustl.edu 37 20 29631574 29631574 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000278882 +1 known p.D124Y 1.000 51 0% 69 26.1% 51 21.5% possibly_damaging(0.901) tolerated(0.06) deleterious(0.679) HMMPfam_FRG1 FRG1B 284802 genome.wustl.edu 37 20 29633899 29633899 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000278882 +1 known p.E180* 1.000 300 0% 503 13.9% 13 38.4% - - - NULL DEFB119 245932 genome.wustl.edu 37 20 29965097 29965097 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153289.2 -1 validated p.E69D 0.000 334 0% 90 48.9% 0 - possibly_damaging(0.892) tolerated(0.16) neutral(0.411) NULL DEFB119 245932 genome.wustl.edu 37 20 29965181 29965181 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153289.2 -1 validated p.K41N 0.039 368 0.3% 105 29.5% 0 - benign(0.141) deleterious(0.01) neutral(0.418) NULL DEFB119 245932 genome.wustl.edu 37 20 29976857 29976857 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153323.3 -1 validated p.K80Q 0.000 412 0% 127 42.5% 0 - benign(0) deleterious(0) neutral(0.445) NULL DEFB119 245932 genome.wustl.edu 37 20 29976958 29976958 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153323.3 -1 validated p.R46H 0.156 436 0% 102 41.2% 0 - probably_damaging(0.973) tolerated(0.19) neutral(0.464) NULL DEFB121 245934 genome.wustl.edu 37 20 29993949 29993949 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001011878.2 -1 validated p.L3I 0.051 185 0% 59 42.4% 0 - unknown(0) - - NULL FOXS1 2307 genome.wustl.edu 37 20 30432905 30432905 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004118.3 -1 reviewed p.T147 0.000 48 0% 28 46.4% 0 - - - - NULL PLAGL2 5326 genome.wustl.edu 37 20 30785344 30785344 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002657.3 -1 reviewed p.K134N 1.000 127 0% 49 36.7% 11 45.4% 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 POFUT1 23509 genome.wustl.edu 37 20 30804467 30804467 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015352.1 +1 reviewed p.S162L 1.000 132 0% 202 50.5% 20 60% possibly_damaging(0.922) deleterious(0.03) deleterious(0.736) HMMPfam_O-FucT ASXL1 171023 genome.wustl.edu 37 20 31019136 31019136 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015338.5 +1 reviewed p.R244H 1.000 124 0% 130 46.9% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ASXL1 171023 genome.wustl.edu 37 20 31021481 31021481 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015338.5 +1 reviewed p.P494S 0.003 47 0% 38 36.8% 12 25% benign(0.246) tolerated(0.46) neutral(0.037) NULL ASXL1 171023 genome.wustl.edu 37 20 31024197 31024197 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015338.5 +1 reviewed p.E1228* 1.000 77 0% 88 51.1% 15 53.3% - - - NULL COMMD7 149951 genome.wustl.edu 37 20 31315792 31315792 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_053041.2 -1 validated p.F50C 0.970 311 0% 150 52% 59 47.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_HCaRG DNMT3B 1789 genome.wustl.edu 37 20 31379488 31379488 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006892.3 +1 reviewed p.R299* 1.000 291 0% 116 42.2% 8 0% - - - superfamily_Tudor/PWWP/MBT EFCAB8 388795 genome.wustl.edu 37 20 31481047 31481047 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000440534 +1 known p.E276K 0.006 125 0% 89 56.2% 0 - benign(0.004) tolerated(0.49) neutral(0.011) superfamily_WD40 repeat-like EFCAB8 388795 genome.wustl.edu 37 20 31500622 31500622 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000440534 +1 known p.N603T 0.725 428 0% 394 40.6% 0 - probably_damaging(0.99) tolerated(0.53) neutral(0.449) superfamily_WD40 repeat-like EFCAB8 388795 genome.wustl.edu 37 20 31548941 31548941 + Splice_Site SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000440534 +1 known e26-1 1.000 159 0% 32 59.4% 0 - - - - - SUN5 140732 genome.wustl.edu 37 20 31583447 31583447 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080675.3 -1 validated p.E171G 0.079 138 0% 50 14% 0 - benign(0.132) tolerated(0.14) neutral(0.261) NULL BPIFB3 359710 genome.wustl.edu 37 20 31652628 31652628 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182658.1 +1 provisional p.D301N 0.029 41 0% 20 30% 0 - benign(0.001) tolerated(0.28) neutral(0.032) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFA2 140683 genome.wustl.edu 37 20 31763346 31763346 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080574.2 +1 validated p.S182P 0.002 196 0% 94 43.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom BPIFB1 92747 genome.wustl.edu 37 20 31885389 31885389 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033197.2 +1 reviewed p.V219G 0.000 572 0.2% 105 47.6% 0 - possibly_damaging(0.844) deleterious(0.01) deleterious(0.729) HMMSmart_SM00328,superfamily_Bactericidal permeability-increasing protein BPI CDK5RAP1 51654 genome.wustl.edu 37 20 31979980 31979980 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016408.2 -1 reviewed p.R171H 0.930 77 0% 64 51.6% 17 70.5% benign(0.305) tolerated(0.13) neutral(0.348) HMMPfam_UPF0004 EIF2S2 8894 genome.wustl.edu 37 20 32693352 32693352 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003908.3 -1 reviewed e2-1 1.000 109 0% 219 40.2% 0 - - - - - GSS 2937 genome.wustl.edu 37 20 33530352 33530352 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000178.2 -1 reviewed p.E144K 1.000 53 0% 35 42.9% 53 41.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GSH_synth_ATP,superfamily_SSF56059 CEP250 11190 genome.wustl.edu 37 20 34082451 34082451 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007186.3 +1 reviewed p.R1045Q 0.115 117 0% 100 40% 32 50% benign(0.006) tolerated(0.1) neutral(0.286) NULL C20orf24 55969 genome.wustl.edu 37 20 35236156 35236156 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199483.1 +1 validated p.I51 1.000 385 0.3% 428 42.1% 212 46.2% - - - HMMPfam_Rab5ip NDRG3 57446 genome.wustl.edu 37 20 35293467 35293467 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032013.2 -1 validated p.S264 0.940 227 0% 158 48.1% 34 38.2% - - - HMMPfam_Ndr,superfamily_alpha/beta-Hydrolases DSN1 79980 genome.wustl.edu 37 20 35399324 35399324 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145315.1 -1 reviewed p.E103* 0.941 232 0% 75 42.7% 8 50% - - - HMMPfam_Mis12_component C20orf118 140711 genome.wustl.edu 37 20 35506344 35506344 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080628.1 +1 predicted p.E26K 0.101 33 0% 23 43.5% 0 - possibly_damaging(0.85) tolerated(0.21) neutral(0.371) NULL SAMHD1 25939 genome.wustl.edu 37 20 35526342 35526342 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015474.3 -1 reviewed p.E543D 0.349 73 0% 133 50.4% 27 37% benign(0.048) tolerated(0.24) neutral(0.041) NULL RBL1 5933 genome.wustl.edu 37 20 35649117 35649117 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002895.2 -1 reviewed p.R859I 1.000 43 0% 90 38.9% 6 66.6% possibly_damaging(0.903) deleterious(0.02) deleterious(0.741) HMMPfam_RB_B,HMMSmart_SM00385,superfamily_Cyclin-like RBL1 5933 genome.wustl.edu 37 20 35696404 35696404 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002895.2 -1 reviewed p.R159Q 1.000 51 0% 140 52.9% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C20orf132 140699 genome.wustl.edu 37 20 35787331 35787331 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000400441 -1 known p.I279M 0.000 224 0% 82 46.3% 7 14.2% benign(0.323) tolerated(0.25) neutral(0.138) NULL CTNNBL1 56259 genome.wustl.edu 37 20 36361311 36361311 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030877.3 +1 reviewed p.D21Y 1.000 111 0% 67 47.8% 34 41.1% benign(0.154) tolerated(0.37) neutral(0.033) NULL CTNNBL1 56259 genome.wustl.edu 37 20 36396389 36396389 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030877.3 +1 reviewed p.E231D 1.000 804 0% 68 48.5% 35 45.7% benign(0.001) tolerated(0.59) neutral(0.004) superfamily_ARM repeat TGM2 7052 genome.wustl.edu 37 20 36768027 36768027 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004613.2 -1 reviewed p.R377C 0.554 130 0% 35 34.3% 69 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Cysteine proteinases FAM83D 81610 genome.wustl.edu 37 20 37580707 37580707 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030919.2 +1 validated p.T464 0.000 97 0% 56 42.9% 39 46.1% - - - NULL TOP1 7150 genome.wustl.edu 37 20 39742739 39742739 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003286.2 +1 reviewed p.D528Y 1.000 91 0% 37 45.9% 85 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_DNA breaking-rejoining enzymes,HMMSmart_SM00435,HMMPfam_Topoisom_I PLCG1 5335 genome.wustl.edu 37 20 39801481 39801481 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002660.2 +1 reviewed p.S1081 0.993 121 0% 40 52.5% 94 52.1% - - - superfamily_PLC-like_Pdiesterase_TIM-brl CHD6 84181 genome.wustl.edu 37 20 40050062 40050062 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032221.3 -1 reviewed p.S1738* 0.008 77 0% 52 48.1% 7 14.2% - - - NULL CHD6 84181 genome.wustl.edu 37 20 40084587 40084587 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032221.3 -1 reviewed p.D954 0.987 244 0% 75 37.3% 8 62.5% - - - NULL CHD6 84181 genome.wustl.edu 37 20 40162105 40162105 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032221.3 -1 reviewed p.E46D 0.974 103 0% 72 40.3% 6 66.6% benign(0.019) deleterious(0) neutral(0.446) NULL PTPRT 11122 genome.wustl.edu 37 20 41076913 41076913 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_133170.3 -1 reviewed p.Y503D 1.000 203 0% 50 52% 0 - benign(0.119) deleterious(0.02) neutral(0.393) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TTPAL 79183 genome.wustl.edu 37 20 43115252 43115252 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039199.1 +1 validated p.R219Q 1.000 142 0% 128 43.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C ADA 100 genome.wustl.edu 37 20 43255234 43255234 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000022.2 -1 reviewed p.C75 1.000 89 0% 78 46.2% 1 0% - - - HMMPfam_A_deaminase,superfamily_SSF51556 PABPC1L 80336 genome.wustl.edu 37 20 43564136 43564136 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001124756.1 +1 provisional p.R517W 0.000 78 0% 21 47.6% 21 38% possibly_damaging(0.732) deleterious(0.02) deleterious(0.651) superfamily_PABP_HYD SDC4 6385 genome.wustl.edu 37 20 43955949 43955949 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002999.2 -1 reviewed p.K184N 1.000 193 0% 65 47.7% 96 45.8% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00294 TP53TG5 27296 genome.wustl.edu 37 20 44006834 44006834 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014477.2 -1 validated p.S15P 0.813 295 0% 80 42.5% 1 100% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL DBNDD2 55861 genome.wustl.edu 37 20 44037117 44037117 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001048221.1 +1 validated p.N4H 1.000 50 0% 26 50% 14 21.4% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_Dysbindin SNX21 90203 genome.wustl.edu 37 20 44469923 44469923 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033421.2 +1 reviewed p.E365* 1.000 23 0.000 9 0.444 9 33.3% - - - NULL ZSWIM3 140831 genome.wustl.edu 37 20 44486535 44486535 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080752.2 +1 validated p.N24S 1.000 29 0% 23 56.5% 0 - benign(0) tolerated(0.81) neutral(0.001) NULL NEURL2 140825 genome.wustl.edu 37 20 44517426 44517426 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080749.2 -1 validated p.E277* 0.852 100 0% 55 52.7% 3 33.3% - - - HMMPfam_SOCS_box MMP9 4318 genome.wustl.edu 37 20 44639788 44639788 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004994.2 +1 reviewed p.P219Q 0.562 54 0% 15 60% 27 0% benign(0.253) tolerated(0.18) neutral(0.082) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Kringle-like,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP9 4318 genome.wustl.edu 37 20 44641157 44641157 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004994.2 +1 reviewed p.M422I 1.000 94 0% 26 34.6% 34 0% benign(0.278) tolerated(1) neutral(0.030) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" SLC12A5 57468 genome.wustl.edu 37 20 44681756 44681756 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001134771.1 +1 reviewed p.R869 0.998 382 0% 74 45.9% 0 - - - - NULL NCOA5 57727 genome.wustl.edu 37 20 44691154 44691154 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020967.2 -1 reviewed p.F509V 1.000 98 0% 37 48.6% 37 43.2% benign(0.271) tolerated(0.06) neutral(0.352) NULL LOC100287179 100287179 genome.wustl.edu 37 20 45085164 45085164 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343708.1 -1 model p.Q14H 0.000 34 0% 36 50% 0 - - - - NULL ZNF334 55713 genome.wustl.edu 37 20 45130119 45130119 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018102.3 -1 validated p.R620I 1.000 164 0% 160 33.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF334 55713 genome.wustl.edu 37 20 45130452 45130452 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018102.3 -1 validated p.R509I 0.308 87 0% 76 42.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF57667 SLC13A3 64849 genome.wustl.edu 37 20 45192160 45192160 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022829.4 -1 reviewed p.L509M 0.399 63 0% 24 50% 0 - possibly_damaging(0.925) deleterious(0.02) deleterious(0.756) HMMPfam_Na_sulph_symp SLC13A3 64849 genome.wustl.edu 37 20 45242199 45242199 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022829.4 -1 reviewed p.F93I 1.000 163 0.6% 35 45.7% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Na_sulph_symp ZMYND8 23613 genome.wustl.edu 37 20 45865244 45865244 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_183047.1 -1 reviewed p.E848D 1.000 240 0% 73 12.3% 20 15% benign(0.003) tolerated(0.43) neutral(0.013) NULL NCOA3 8202 genome.wustl.edu 37 20 46264326 46264326 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181659.2 +1 reviewed p.N458T 0.007 81 0% 33 54.5% 4 75% benign(0) deleterious(0.01) neutral(0.406) NULL ARFGEF2 10564 genome.wustl.edu 37 20 47628534 47628534 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006420.2 +1 reviewed p.F1277 0.994 188 0% 57 33.3% 6 66.6% - - - superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47639640 47639640 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006420.2 +1 reviewed p.L1559F 1.000 88 0% 104 47.1% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSE1L 1434 genome.wustl.edu 37 20 47682748 47682748 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001316.2 +1 reviewed p.K83T 1.000 119 0% 162 50% 40 57.5% benign(0.025) deleterious(0.04) neutral(0.350) HMMPfam_IBN_N,superfamily_ARM repeat KCNB1 3745 genome.wustl.edu 37 20 47991047 47991047 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004975.2 -1 reviewed p.F350L 1.000 46 0% 44 43.2% 0 - possibly_damaging(0.9) deleterious(0.01) deleterious(0.762) HMMPfam_Ion_trans,superfamily_SSF81324 SLC9A8 23315 genome.wustl.edu 37 20 48456101 48456101 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015266.1 +1 validated p.K105Q 1.000 106 0% 285 44.6% 1 0% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMPfam_Na_H_Exchanger SPATA2 9825 genome.wustl.edu 37 20 48523206 48523206 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135773.1 -1 validated p.V171 0.102 49 0% 30 36.7% 7 42.8% - - - NULL FAM65C 140876 genome.wustl.edu 37 20 49214212 49214212 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080829.2 -1 predicted p.E561D 0.995 18 0% 13 53.8% 0 - benign(0.006) tolerated(0.07) neutral(0.319) NULL NFATC2 4773 genome.wustl.edu 37 20 50048630 50048630 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173091.2 -1 reviewed p.N899S 1.000 213 0.5% 114 45.6% 2 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL ATP9A 10079 genome.wustl.edu 37 20 50244175 50244175 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006045.1 -1 validated p.K603N 1.000 131 0% 42 50% 38 39.4% possibly_damaging(0.671) deleterious(0.01) deleterious(0.643) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N LOC100287405 100287405 genome.wustl.edu 37 20 50408716 50408716 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343710.1 +1 model p.M1I 1.000 67 0% 58 36.2% 0 - - - - NULL TSHZ2 128553 genome.wustl.edu 37 20 51872193 51872193 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173485.4 +1 validated p.S732 0.000 116 0% 35 20% 1 0% - - - NULL ZNF217 7764 genome.wustl.edu 37 20 52193627 52193627 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006526.2 -1 validated p.R559I 1.000 128 0% 158 44.3% 14 28.5% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL CYP24A1 1591 genome.wustl.edu 37 20 52786192 52786192 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000782.4 -1 reviewed p.L193 0.998 55 0% 86 54.7% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 MC3R 4159 genome.wustl.edu 37 20 54824208 54824208 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019888.3 +1 reviewed p.S103 0.967 237 0% 30 53.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AURKA 6790 genome.wustl.edu 37 20 54958153 54958153 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003600.2 -1 reviewed p.E152* 1.000 173 0% 93 40.9% 20 25% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase FAM209A 200232 genome.wustl.edu 37 20 55100082 55100082 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012971.3 +1 validated p.L73Q 0.029 264 0% 235 44.7% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CTCFL 140690 genome.wustl.edu 37 20 56073626 56073626 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080618.2 -1 reviewed p.L658I 0.932 114 0.9% 87 48.3% 0 - probably_damaging(0.979) deleterious(0.04) deleterious(0.771) NULL CTCFL 140690 genome.wustl.edu 37 20 56089748 56089748 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080618.2 -1 reviewed p.S410 0.383 74 0% 69 50.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZBP1 81030 genome.wustl.edu 37 20 56185321 56185321 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030776.2 -1 validated p.S326L 0.000 226 0% 81 34.6% 1 0% benign(0.423) deleterious(0) deleterious(0.582) NULL PHACTR3 116154 genome.wustl.edu 37 20 58342311 58342311 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080672.3 +1 reviewed p.L204 0.999 156 0% 32 34.4% 0 - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58450505 58450505 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014258.2 -1 reviewed p.R1057I 0.550 221 0% 84 15.5% 0 - probably_damaging(0.979) deleterious(0.04) deleterious(0.771) NULL SYCP2 10388 genome.wustl.edu 37 20 58456029 58456029 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014258.2 -1 reviewed p.D922Y 1.000 59 0% 59 32.2% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL SYCP2 10388 genome.wustl.edu 37 20 58467177 58467177 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014258.2 -1 reviewed p.I744M 0.002 399 0% 71 43.7% 0 - benign(0.048) tolerated(0.08) neutral(0.303) NULL SYCP2 10388 genome.wustl.edu 37 20 58467462 58467462 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014258.2 -1 reviewed p.K649 0.002 137 0% 49 53.1% 0 - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58468615 58468615 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014258.2 -1 reviewed p.E567* 0.149 177 0% 41 41.5% 0 - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58475852 58475852 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014258.2 -1 reviewed p.I402L 0.906 253 0% 48 33.3% 0 - possibly_damaging(0.79) tolerated(0.15) deleterious(0.537) NULL TAF4 6874 genome.wustl.edu 37 20 60575620 60575620 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003185.3 -1 reviewed p.I882V 0.998 130 0% 147 46.3% 12 50% possibly_damaging(0.858) deleterious(0.02) deleterious(0.714) HMMPfam_TAF4,superfamily_Histone-fold DIDO1 11083 genome.wustl.edu 37 20 61513198 61513198 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033081.1 -1 reviewed p.F1370L 0.973 16 0% 95 42.1% 15 26.6% benign(0.034) tolerated(0.54) neutral(0.009) NULL DIDO1 11083 genome.wustl.edu 37 20 61527945 61527945 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033081.1 -1 reviewed p.S664 0.958 52 0% 59 61% 13 46.1% - - - superfamily_Elongation factor TFIIS domain 2 COL20A1 57642 genome.wustl.edu 37 20 61943898 61943898 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020882.2 +1 validated p.T644A 1.000 17 0% 33 42.4% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_Fibronectin type III COL20A1 57642 genome.wustl.edu 37 20 61945177 61945177 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020882.2 +1 validated p.P764 0.000 12 0% 16 43.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SRMS 6725 genome.wustl.edu 37 20 62172603 62172603 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080823.2 -1 provisional p.V409A 1.000 7 0.000 18 0.278 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like RTEL1 51750 genome.wustl.edu 37 20 62305308 62305308 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032957.3 +1 reviewed p.E261* 1.000 29 0% 23 34.8% 11 36.3% - - - HMMSmart_DEXDc2,HMMPfam_DEAD_2 ZGPAT 84619 genome.wustl.edu 37 20 62366717 62366717 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032527.3 +1 validated p.E420* 0.804 14 0% 28 50% 23 30.4% - - - NULL UCKL1 54963 genome.wustl.edu 37 20 62577278 62577278 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017859.2 -1 validated p.F154 0.970 34 0% 268 45.1% 27 22.2% - - - HMMPfam_PRK,superfamily_P-loop containing nucleoside triphosphate hydrolases MYT1 4661 genome.wustl.edu 37 20 62854671 62854671 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004535.2 +1 reviewed p.K829 1.000 160 0% 155 48.4% 0 - - - - superfamily_SSF103637 TPTE 7179 genome.wustl.edu 37 21 10920126 10920126 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199261.2 -1 validated p.K376N 0.595 496 0% 346 19.7% 0 - benign(0.361) tolerated(0.36) neutral(0.135) superfamily_(Phosphotyrosine protein) phosphatases II TPTE 7179 genome.wustl.edu 37 21 10920143 10920143 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199261.2 -1 validated p.E371* 0.541 548 0% 362 22.1% 0 - - - - superfamily_(Phosphotyrosine protein) phosphatases II TPTE 7179 genome.wustl.edu 37 21 10933894 10933894 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199261.2 -1 validated p.D329Y 0.986 599 0% 443 21% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_(Phosphotyrosine protein) phosphatases II TPTE 7179 genome.wustl.edu 37 21 10934966 10934966 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199261.2 -1 validated p.R276Q 0.567 575 0% 384 18.5% 0 - benign(0.008) tolerated(0.37) neutral(0.019) superfamily_(Phosphotyrosine protein) phosphatases II TPTE 7179 genome.wustl.edu 37 21 10959756 10959756 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_199261.2 -1 validated p.N73S 0.000 359 0% 236 21.6% 0 - benign(0.062) tolerated(0.06) neutral(0.327) superfamily_Voltage-gated potassium channels LIPI 149998 genome.wustl.edu 37 21 15561474 15561474 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198996.2 -1 validated p.D126Y 0.966 140 0% 82 39% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_SSF53474 NRIP1 8204 genome.wustl.edu 37 21 16337048 16337048 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003489.3 -1 reviewed p.E1156* 1.000 157 0% 55 45.5% 6 33.3% - - - NULL USP25 29761 genome.wustl.edu 37 21 17163895 17163895 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013396.3 +1 validated p.R156Q 1.000 269 0.4% 70 41.4% 12 41.6% benign(0.222) tolerated(0.54) neutral(0.029) NULL USP25 29761 genome.wustl.edu 37 21 17214843 17214843 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013396.3 +1 validated p.E774G 1.000 138 0% 41 46.3% 17 58.8% probably_damaging(0.987) tolerated(0.14) deleterious(0.686) NULL NCAM2 4685 genome.wustl.edu 37 21 22658624 22658624 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004540.2 +1 reviewed p.E125* 1.000 250 0% 36 47.2% 0 - - - - superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22696762 22696762 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004540.2 +1 reviewed p.E227* 1.000 149 0% 41 46.3% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22782691 22782691 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004540.2 +1 reviewed p.S431 0.938 54 0% 58 60.3% 0 - - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22881353 22881353 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004540.2 +1 reviewed p.L753 0.012 226 0% 36 44.4% 1 0% - - - NULL ATP5J 522 genome.wustl.edu 37 21 27097544 27097544 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003701.1 -1 reviewed p.K102N 0.903 140 0% 123 38.2% 382 49.2% benign(0) tolerated(0.07) neutral(0.319) HMMPfam_ATP-synt_F6,superfamily_Mitochondrial ATP synthase coupling factor 6 (Pfam 05511) GABPA 2551 genome.wustl.edu 37 21 27130420 27130420 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002040.3 +1 validated p.S218L 1.000 165 0% 38 18.4% 6 16.6% benign(0.006) deleterious(0.03) neutral(0.364) HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain APP 351 genome.wustl.edu 37 21 27328055 27328055 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000484.3 -1 reviewed p.F491L 1.000 405 0% 101 40.6% 636 42.6% benign(0.001) tolerated(1) - superfamily_CAPPD an extracellular domain of amyloid beta A4 protein APP 351 genome.wustl.edu 37 21 27347519 27347519 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000484.3 -1 reviewed p.S441Y 1.000 320 0.3% 54 16.7% 747 19.1% unknown(0) deleterious(0) - superfamily_CAPPD an extracellular domain of amyloid beta A4 protein ADAMTS1 9510 genome.wustl.edu 37 21 28214230 28214230 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006988.3 -1 reviewed p.S386F 1.000 154 0% 70 42.9% 34 38.2% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Reprolysin,superfamily_SSF55486 ADAMTS5 11096 genome.wustl.edu 37 21 28296687 28296687 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007038.3 -1 reviewed p.T826 0.001 173 0% 82 40.2% 0 - - - - HMMPfam_ADAM_spacer1 LTN1 26046 genome.wustl.edu 37 21 30342917 30342917 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015565.2 -1 validated p.K378Q 0.975 127 0% 82 45.1% 5 100% possibly_damaging(0.69) tolerated(0.6) neutral(0.252) superfamily_ARM repeat RWDD2B 10069 genome.wustl.edu 37 21 30380805 30380805 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016940.2 -1 validated p.D69Y 0.590 55 0% 126 14.3% 18 11.1% possibly_damaging(0.851) tolerated(0.08) deleterious(0.627) HMMPfam_RWD,HMMSmart_RWD,superfamily_UBQ-conjugat/RWD-like USP16 10600 genome.wustl.edu 37 21 30415769 30415769 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001032410.1 +1 reviewed p.K402T 1.000 108 0% 83 36.1% 22 36.3% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_UCH,superfamily_Cysteine proteinases C21orf7 56911 genome.wustl.edu 37 21 30521536 30521536 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020152.2 +1 provisional p.P133T 0.999 377 0% 278 46.4% 1 0% benign(0.108) deleterious(0.01) neutral(0.414) NULL BACH1 571 genome.wustl.edu 37 21 30701962 30701962 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001186.2 +1 reviewed p.R575H 1.000 98 0% 72 44.4% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00338,PatternScan_BZIP_BASIC,superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1 KRTAP13-3 337960 genome.wustl.edu 37 21 31797767 31797767 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181622.1 -1 provisional p.R155K 0.005 86 0% 40 37.5% 0 - possibly_damaging(0.712) tolerated(0.21) neutral(0.301) HMMPfam_PMG KRTAP21-1 337977 genome.wustl.edu 37 21 32127479 32127479 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181619.1 -1 provisional p.R73I 1.000 272 0% 44 50% 0 - unknown(0) tolerated(0.21) - NULL TIAM1 7074 genome.wustl.edu 37 21 32624092 32624092 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003253.2 -1 validated p.R459 0.063 52 0% 15 53.3% 2 0% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 TIAM1 7074 genome.wustl.edu 37 21 32638340 32638340 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003253.2 -1 validated p.A317T 1.000 124 0% 120 48.3% 4 50% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL URB1 9875 genome.wustl.edu 37 21 33688779 33688779 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014825.2 -1 validated p.Q2211P 0.002 40 0% 20 65% 19 78.9% benign(0.027) deleterious(0.01) neutral(0.407) NULL URB1 9875 genome.wustl.edu 37 21 33689150 33689150 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014825.2 -1 validated p.S2087 0.000 44 0% 35 40% 12 50% - - - NULL URB1 9875 genome.wustl.edu 37 21 33697666 33697666 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014825.2 -1 validated p.S1665* 0.376 109 0% 69 37.7% 5 20% - - - superfamily_ARM repeat URB1 9875 genome.wustl.edu 37 21 33747736 33747736 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014825.2 -1 validated p.N241D 1.000 249 0% 193 39.4% 1 100% possibly_damaging(0.879) tolerated(0.28) neutral(0.374) NULL TCP10L 140290 genome.wustl.edu 37 21 33949173 33949173 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144659.5 -1 validated p.D187Y 0.006 154 0% 207 35.3% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL SYNJ1 8867 genome.wustl.edu 37 21 34067417 34067417 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003895.3 -1 validated p.R219W 1.000 146 0% 84 51.2% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Syja_N GCFC1 94104 genome.wustl.edu 37 21 34110488 34110488 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016631.3 -1 reviewed p.Q826L 1.000 126 0% 156 33.3% 23 39.1% possibly_damaging(0.448) tolerated(0.07) neutral(0.466) HMMPfam_GCFC GCFC1 94104 genome.wustl.edu 37 21 34117207 34117207 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016631.3 -1 reviewed p.W696R 1.000 134 0% 93 45.2% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCFC IL10RB 3588 genome.wustl.edu 37 21 34655492 34655492 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000628.3 +1 reviewed p.R198W 0.000 167 0% 195 49.2% 33 51.5% benign(0.079) tolerated(0.14) neutral(0.255) HMMSmart_FN3,superfamily_FN_III-like IFNGR2 3460 genome.wustl.edu 37 21 34793809 34793809 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005534.3 +1 reviewed p.A77T 0.000 69 0% 55 49.1% 89 46% benign(0) tolerated(0.6) neutral(0.004) superfamily_Fibronectin type III DNAJC28 54943 genome.wustl.edu 37 21 34860925 34860925 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001040192.1 -1 validated p.K259M 1.000 152 0% 367 43.1% 1 0% benign(0) tolerated(0.47) neutral(0.011) HMMPfam_DUF1992 SON 6651 genome.wustl.edu 37 21 34926110 34926110 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138927.1 +1 reviewed p.E1525K 0.996 27 0% 80 47.5% 31 35.4% possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL KCNE2 9992 genome.wustl.edu 37 21 35743048 35743048 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_172201.1 +1 reviewed p.D91N 0.998 154 0% 65 50.8% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ISK_Channel RCAN1 1827 genome.wustl.edu 37 21 35895991 35895991 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004414.5 -1 reviewed p.L90 0.999 246 0% 211 45% 10 30% - - - HMMPfam_Calcipressin RUNX1 861 genome.wustl.edu 37 21 36421171 36421171 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001754.4 -1 reviewed p.S9* 1.000 132 0% 52 11.5% 0 - - - - NULL CBR3 874 genome.wustl.edu 37 21 37518377 37518377 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001236.3 +1 reviewed p.R134I 0.914 128 0% 217 45.2% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_adh_short,superfamily_NAD(P)-bd DOPEY2 9980 genome.wustl.edu 37 21 37597956 37597956 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005128.2 +1 validated p.V488 0.128 142 0% 72 27.8% 4 0% - - - NULL SIM2 6493 genome.wustl.edu 37 21 38072205 38072205 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005069.3 +1 reviewed p.R53 0.997 15 0% 22 50% 0 - - - - HMMPfam_HLH,HMMSmart_SM00353 TTC3 7267 genome.wustl.edu 37 21 38461124 38461124 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001894.1 +1 validated p.L122 1.000 98 0% 112 43.8% 10 50% - - - NULL TTC3 7267 genome.wustl.edu 37 21 38537934 38537934 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001894.1 +1 validated p.E1140* 1.000 84 0% 73 56.2% 40 27.5% - - - superfamily_Spectrin,superfamily_SSF48452 KCNJ6 3763 genome.wustl.edu 37 21 38997502 38997502 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002240.2 -1 reviewed p.N411D 1.000 326 0% 238 48.3% 0 - possibly_damaging(0.882) tolerated(0.38) neutral(0.362) NULL KCNJ15 3772 genome.wustl.edu 37 21 39672183 39672183 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002243.3 +1 reviewed p.R334W 1.000 142 0% 80 52.5% 0 - probably_damaging(0.997) tolerated(0.12) deleterious(0.727) HMMPfam_IRK,superfamily_Ig_E-set ERG 2078 genome.wustl.edu 37 21 39755594 39755594 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136154.1 -1 validated p.D398N 1.000 76 0% 53 41.5% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" BRWD1 54014 genome.wustl.edu 37 21 40604373 40604373 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018963.3 -1 reviewed p.E940* 1.000 149 0% 105 40% 6 83.3% - - - superfamily_WD40 repeat-like LCA5L 150082 genome.wustl.edu 37 21 40800175 40800175 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152505.3 -1 validated p.R82I 0.000 102 0% 90 33.3% 0 - possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL IGSF5 150084 genome.wustl.edu 37 21 41160107 41160107 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001080444.1 +1 provisional p.Q316H 0.903 187 0% 320 42.5% 0 - possibly_damaging(0.653) tolerated(0.07) deleterious(0.548) NULL DSCAM 1826 genome.wustl.edu 37 21 41427707 41427707 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001389.3 -1 validated p.I1660 0.133 335 0% 102 50% 0 - - - - NULL DSCAM 1826 genome.wustl.edu 37 21 41539170 41539170 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001389.3 -1 validated p.S998F 0.997 66 0% 47 48.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DSCAM 1826 genome.wustl.edu 37 21 41684257 41684257 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001389.3 -1 validated p.P605T 1.000 62 0% 21 42.9% 0 - benign(0.27) tolerated(0.47) neutral(0.040) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CBS 875 genome.wustl.edu 37 21 44485379 44485379 + Missense_Mutation SNP G G A rs139456571 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000071.2 -1 reviewed p.R224C 1.000 52 0% 44 31.8% 16 62.5% benign(0.331) deleterious(0.04) neutral(0.453) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes HSF2BP 11077 genome.wustl.edu 37 21 45076582 45076582 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007031.1 -1 reviewed p.K25Q 1.000 238 0% 341 45.7% 1 0% possibly_damaging(0.663) deleterious(0) deleterious(0.679) NULL TRPM2 7226 genome.wustl.edu 37 21 45795895 45795895 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003307.3 +1 reviewed p.G317 0.995 30 0% 76 42.1% 0 - - - - NULL TSPEAR 54084 genome.wustl.edu 37 21 45941937 45941937 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144991.2 -1 provisional p.F465 0.989 132 0% 127 44.9% 0 - - - - NULL KRTAP10-1 386677 genome.wustl.edu 37 21 45959463 45959463 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198691.2 -1 reviewed p.P191S 0.447 229 0% 133 34.6% 0 - unknown(0) - - HMMPfam_Keratin_B2 KRTAP10-4 386672 genome.wustl.edu 37 21 45994270 45994270 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198687.1 +1 reviewed p.S212Y 0.858 293 0% 59 37.3% 0 - unknown(0) deleterious(0.02) - HMMPfam_Keratin_B2 COL18A1 80781 genome.wustl.edu 37 21 46893828 46893828 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130444.2 +1 reviewed p.K639T 1.000 34 0% 33 45.5% 249 51% unknown(0) tolerated(0.12) - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases PCBP3 54039 genome.wustl.edu 37 21 47359959 47359959 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020528.2 +1 reviewed p.I309L 1.000 44 0% 34 55.9% 0 - benign(0.402) deleterious(0) deleterious(0.574) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) FTCD 10841 genome.wustl.edu 37 21 47575403 47575403 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006657.2 -1 reviewed p.S12L 0.998 10 0% 31 38.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Formiminotransferase domain of formiminotransferase-cyclodeaminase.,HMMPfam_FTCD_N C21orf56 84221 genome.wustl.edu 37 21 47588517 47588517 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142854.1 -1 validated p.T83 0.000 34 0% 33 39.4% 31 0% - - - NULL MCM3AP 8888 genome.wustl.edu 37 21 47666262 47666262 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003906.3 -1 reviewed p.E1536K 0.866 155 0% 155 14.8% 59 11.8% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL PCNT 5116 genome.wustl.edu 37 21 47754665 47754665 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006031.5 +1 reviewed p.R208C 0.019 301 0% 140 43.6% 10 70% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL PCNT 5116 genome.wustl.edu 37 21 47783430 47783430 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006031.5 +1 reviewed p.E730 0.001 102 0% 175 48.6% 5 60% - - - NULL PCNT 5116 genome.wustl.edu 37 21 47821562 47821562 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006031.5 +1 reviewed p.S1630L 0.000 36 0% 30 60% 11 45.4% benign(0) tolerated(0.35) neutral(0.021) NULL PCNT 5116 genome.wustl.edu 37 21 47851566 47851566 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006031.5 +1 reviewed p.E2730K 0.998 35 0% 15 33.3% 22 27.2% probably_damaging(0.995) tolerated(0.15) deleterious(0.699) NULL S100B 6285 genome.wustl.edu 37 21 48022235 48022235 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006272.2 -1 reviewed p.E32K 0.998 155 0% 180 42.8% 4 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_S_100,superfamily_EF-hand POTEH 23784 genome.wustl.edu 37 22 16275231 16275231 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136213.1 -1 provisional p.V405F 0.000 205 0% 191 23% 0 - benign(0.299) tolerated(0.13) neutral(0.345) NULL OR11H1 81061 genome.wustl.edu 37 22 16449707 16449707 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005239.1 -1 provisional p.S33Y 0.079 339 0% 133 20.3% 0 - possibly_damaging(0.492) deleterious(0.01) deleterious(0.570) superfamily_SSF81321 CECR2 27443 genome.wustl.edu 37 22 18016794 18016794 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000400573 +1 known p.R349* 1.000 136 0.7% 59 44.1% 0 - - - - NULL ATP6V1E1 529 genome.wustl.edu 37 22 18111375 18111375 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001696.3 -1 reviewed p.Q9H 0.940 87 0% 34 55.9% 77 44.1% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL MICAL3 57553 genome.wustl.edu 37 22 18383637 18383637 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015241.2 -1 provisional p.K273T 1.000 237 0% 223 49.8% 10 70% probably_damaging(0.985) tolerated(0.07) deleterious(0.751) superfamily_FAD/NAD(P)-binding domain TUBA8 51807 genome.wustl.edu 37 22 18613727 18613727 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018943.1 +1 provisional p.D392N 1.000 81 0% 50 42% 6 33.3% benign(0.003) tolerated(0.06) neutral(0.323) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C PRODH 5625 genome.wustl.edu 37 22 18906976 18906976 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016335.3 -1 reviewed p.Q413H 1.000 10 0% 10 50% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pro_dh,superfamily_FAD-linked oxidoreductase SLC25A1 6576 genome.wustl.edu 37 22 19164411 19164411 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005984.2 -1 validated p.S193 0.940 18 0% 28 28.6% 276 47.4% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr HIRA 7290 genome.wustl.edu 37 22 19343791 19343791 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003325.3 -1 reviewed p.V806G 0.995 69 0% 73 41.1% 39 33.3% benign(0.167) deleterious(0) neutral(0.460) HMMPfam_Hira UFD1L 7353 genome.wustl.edu 37 22 19443213 19443213 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005659.6 -1 reviewed p.D253Y 1.000 60 0% 73 41.1% 142 39.4% benign(0.008) tolerated(0.08) neutral(0.300) NULL CDC45 8318 genome.wustl.edu 37 22 19495346 19495346 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003504.3 +1 reviewed p.E338D 1.000 211 0% 122 45.1% 31 45.1% benign(0) tolerated(0.37) neutral(0.019) HMMPfam_CDC45 MED15 51586 genome.wustl.edu 37 22 20905726 20905726 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003891.1 +1 reviewed p.E54K 0.986 266 0% 292 42.8% 23 8.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ARC105_Med_act MED15 51586 genome.wustl.edu 37 22 20907439 20907439 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000423862 +1 known p.E40* 1.000 276 0% 552 44% 24 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ARC105_Med_act PI4KA 5297 genome.wustl.edu 37 22 21174123 21174123 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_058004.2 -1 reviewed p.N141D 0.999 227 0% 66 56.1% 16 37.5% benign(0.014) tolerated(0.81) neutral(0.001) NULL AIFM3 150209 genome.wustl.edu 37 22 21331353 21331353 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144704.2 +1 validated p.V417 0.527 139 0% 111 49.5% 0 - - - - HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain P2RX6 9127 genome.wustl.edu 37 22 21380166 21380166 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005446.3 +1 reviewed p.F321 0.656 26 0% 34 41.2% 0 - - - - HMMPfam_P2X_receptor CCDC116 164592 genome.wustl.edu 37 22 21990876 21990876 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152612.2 +1 provisional p.F453 0.218 33 0% 31 45.2% 0 - - - - NULL PPIL2 23759 genome.wustl.edu 37 22 22037540 22037540 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148176.2 +1 reviewed p.D183Y 1.000 34 0% 68 35.3% 18 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPREB1 7441 genome.wustl.edu 37 22 22599405 22599405 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007128.2 +1 reviewed p.A32T 0.000 219 0% 61 9.8% 0 - benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_V-set,superfamily_SSF48726 IGLV1-44 28823 genome.wustl.edu 37 22 22735509 22735509 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390297 +1 known p.G49E 0.041 209 0% 89 33.7% 15 0% benign(0.037) deleterious(0.04) neutral(0.351) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV5-37 28783 genome.wustl.edu 37 22 22782105 22782105 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390300 +1 known p.E35* 0.002 107 0% 60 53.3% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PRAME 23532 genome.wustl.edu 37 22 22890681 22890681 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006115.3 -1 reviewed p.E446 0.888 99 0% 68 42.6% 388 50.5% - - - superfamily_RNI-like IGLV3-22 28795 genome.wustl.edu 37 22 23047176 23047176 + Missense_Mutation SNP C C T rs181740395 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000390307 +1 known p.R72W 0.000 82 0% 42 33.3% 0 - probably_damaging(0.959) deleterious(0.02) deleterious(0.786) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ENSG00000222037 0 genome.wustl.edu 37 22 23237591 23237591 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000410090 +1 known p.P122L 0.889 344 0% 85 42.4% 274 0% possibly_damaging(0.912) tolerated(0.27) neutral(0.397) HMMPfam_C1-set,superfamily_Immunoglobulin LOC100287927 100287927 genome.wustl.edu 37 22 23248609 23248609 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343770.1 -1 model p.E59* 1.000 248 0% 82 19.5% 545 0% benign(0.413) deleterious(0) deleterious(0.578) NULL RGL4 266747 genome.wustl.edu 37 22 24040633 24040633 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000382831 +1 known p.C336G 0.012 21 0% 23 52.2% 0 - - - - HMMSmart_SM00147 DERL3 91319 genome.wustl.edu 37 22 24180324 24180324 + Splice_Site SNP C C G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000290730 -1 known NULL 0.001 4 0.000 12 0.583 0 - - - - - CABIN1 23523 genome.wustl.edu 37 22 24452763 24452763 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012295.2 +1 reviewed p.K401T 1.000 82 0% 85 35.3% 13 15.3% probably_damaging(0.982) tolerated(0.09) deleterious(0.723) NULL CABIN1 23523 genome.wustl.edu 37 22 24463004 24463004 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012295.2 +1 reviewed p.A702T 1.000 107 0% 39 61.5% 40 47.5% possibly_damaging(0.905) tolerated(0.48) neutral(0.370) superfamily_SSF48452 SPECC1L 23384 genome.wustl.edu 37 22 24717300 24717300 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145468.1 +1 validated p.E118* 1.000 36 0% 77 42.9% 18 72.2% - - - NULL SPECC1L 23384 genome.wustl.edu 37 22 24720239 24720239 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145468.1 +1 validated p.D664Y 1.000 83 0% 171 39.2% 20 35% possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) NULL ADRBK2 157 genome.wustl.edu 37 22 26063737 26063737 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005160.3 +1 reviewed p.R158Q 1.000 115 0% 117 44.4% 4 25% possibly_damaging(0.485) tolerated(0.07) deleterious(0.480) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam MYO18B 84700 genome.wustl.edu 37 22 26224836 26224836 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032608.5 +1 reviewed p.A960 0.377 277 0% 95 49.5% 0 - - - - HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO18B 84700 genome.wustl.edu 37 22 26422418 26422418 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032608.5 +1 reviewed p.E2160K 0.000 33 0.000 9 0.556 0 - benign(0) deleterious(0.02) neutral(0.383) NULL SEZ6L 23544 genome.wustl.edu 37 22 26693015 26693015 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021115.4 +1 validated p.D377 0.000 80 0% 23 26.1% 0 - - - - HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SEZ6L 23544 genome.wustl.edu 37 22 26702091 26702091 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021115.4 +1 validated p.L499 0.002 68 0% 25 40% 0 - - - - HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CHEK2 11200 genome.wustl.edu 37 22 29121271 29121271 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005735.1 -1 reviewed p.K178T 0.833 262 0% 340 53.8% 17 58.8% benign(0.345) tolerated(0.38) neutral(0.127) HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain C22orf31 25770 genome.wustl.edu 37 22 29454997 29454997 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015370.1 -1 predicted p.T202 0.000 70 0% 65 36.9% 0 - - - - NULL EWSR1 2130 genome.wustl.edu 37 22 29692360 29692360 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005243.3 +1 reviewed e12+2 0.999 66 0% 57 47.4% 29 100% - - - - EWSR1 2130 genome.wustl.edu 37 22 29693846 29693846 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005243.3 +1 reviewed p.V442I 1.000 99 0% 67 10.4% 287 0.6% possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMSmart_SM00360,superfamily_RNA-binding domain RBD AP1B1 162 genome.wustl.edu 37 22 29759014 29759014 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127.3 -1 reviewed p.S40L 0.998 446 0% 165 46.7% 28 42.8% benign(0.001) deleterious(0.05) neutral(0.345) HMMPfam_Adaptin_N,superfamily_ARM repeat AP1B1 162 genome.wustl.edu 37 22 29759085 29759085 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127.3 -1 reviewed p.F16 1.000 414 0% 168 28% 25 40% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat RFPL1 5988 genome.wustl.edu 37 22 29837600 29837600 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021026.2 +1 validated p.R148Q 0.000 453 0.2% 209 43.5% 0 - probably_damaging(0.978) tolerated(0.42) neutral(0.434) HMMSmart_PRY ASCC2 84164 genome.wustl.edu 37 22 30209527 30209527 + Nonsense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032204.3 -1 provisional p.L242* 0.692 220 0% 116 52.6% 22 4.5% - - - NULL SEC14L2 23541 genome.wustl.edu 37 22 30805418 30805418 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012429.2 +1 reviewed p.L175I 1.000 122 0% 229 45.4% 7 28.5% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C MORC2-AS1 150291 genome.wustl.edu 37 22 31322626 31322626 + RNA SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_026920.1 +1 validated NULL 1.000 32 0% 15 53.3% 8 50% - - - - SMTN 6525 genome.wustl.edu 37 22 31485788 31485788 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_134270.1 +1 reviewed p.R192Q 0.902 43 0% 31 48.4% 43 44.1% probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL DRG1 4733 genome.wustl.edu 37 22 31799045 31799045 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004147.3 +1 validated p.R66Q 1.000 471 0% 386 48.7% 101 37.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases DRG1 4733 genome.wustl.edu 37 22 31816303 31816303 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004147.3 +1 validated p.K158N 1.000 235 0% 156 39.7% 115 33% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases YWHAH 7533 genome.wustl.edu 37 22 32352269 32352269 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003405.3 +1 reviewed p.K77N 1.000 218 0% 91 28.6% 155 34.8% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein RFPL3-AS1 10737 genome.wustl.edu 37 22 32756123 32756123 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_001450.2 -1 provisional NULL 0.000 54 0% 67 56.7% 0 - - - - - RFPL3 10738 genome.wustl.edu 37 22 32756501 32756501 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098535.1 +1 validated p.E212 0.000 267 0.4% 179 42.5% 1 0% - - - HMMPfam_SPRY,HMMSmart_SPRY BPIFC 254240 genome.wustl.edu 37 22 32827361 32827361 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174932.2 -1 validated p.R397I 0.780 66 0% 47 38.3% 0 - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFC 254240 genome.wustl.edu 37 22 32849408 32849408 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174932.2 -1 validated p.E69D 0.957 173 0% 207 42.5% 0 - benign(0) tolerated(0.56) neutral(0.006) HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom FBXO7 25793 genome.wustl.edu 37 22 32883771 32883771 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012179.3 +1 reviewed p.R276I 0.997 103 0% 79 43% 139 48.2% possibly_damaging(0.921) deleterious(0.01) deleterious(0.776) NULL LARGE 9215 genome.wustl.edu 37 22 33679280 33679280 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004737.4 -1 reviewed p.P595 0.016 146 0.7% 49 44.9% 55 50.9% - - - NULL HMGXB4 10042 genome.wustl.edu 37 22 35660733 35660733 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003681.2 +1 validated p.S118P 1.000 20 0% 41 43.9% 11 72.7% possibly_damaging(0.497) deleterious(0) deleterious(0.611) NULL APOL6 80830 genome.wustl.edu 37 22 36054737 36054737 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030641.3 +1 reviewed p.F42L 0.978 44 0% 55 43.6% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ApoL APOL3 80833 genome.wustl.edu 37 22 36538073 36538073 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145640.2 -1 reviewed p.K128N 0.000 93 0% 88 47.7% 7 14.2% probably_damaging(0.999) tolerated(0.42) deleterious(0.504) HMMPfam_ApoL MYH9 4627 genome.wustl.edu 37 22 36680188 36680188 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002473.4 -1 reviewed p.T1906P 0.995 67 0% 18 38.9% 967 40.1% probably_damaging(0.962) deleterious(0.03) deleterious(0.770) HMMPfam_Myosin_tail_1 CACNG2 10369 genome.wustl.edu 37 22 36983540 36983540 + Silent SNP G G A rs148787239 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006078.2 -1 reviewed p.Y89 1.000 192 0% 118 41.5% 0 - - - - HMMPfam_PMP22_Claudin IFT27 11020 genome.wustl.edu 37 22 37154436 37154436 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006860.3 -1 reviewed p.F159 0.007 121 0% 133 49.6% 76 40.7% - - - HMMPfam_Ras,superfamily_SSF52540 CSF2RB 1439 genome.wustl.edu 37 22 37325759 37325759 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000395.2 +1 reviewed p.A210T 1.000 54 0% 33 42.4% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CSF2RB 1439 genome.wustl.edu 37 22 37326849 37326849 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000395.2 +1 reviewed p.K330T 0.474 43 0% 24 41.7% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CSF2RB 1439 genome.wustl.edu 37 22 37334028 37334028 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000395.2 +1 reviewed p.S726 0.000 49 0% 28 32.1% 4 0% - - - NULL TMPRSS6 164656 genome.wustl.edu 37 22 37499389 37499389 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153609.2 -1 reviewed p.E32 0.993 212 0% 28 50% 0 - - - - NULL CYTH4 27128 genome.wustl.edu 37 22 37690748 37690748 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013385.3 +1 reviewed p.F50 0.507 164 0% 102 47.1% 1 0% - - - NULL CYTH4 27128 genome.wustl.edu 37 22 37705261 37705261 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000422721 +1 known p.R287* 0.978 269 0% 89 38.2% 4 0% - - - NULL ELFN2 114794 genome.wustl.edu 37 22 37771367 37771367 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052906.3 -1 validated p.V70M 1.000 191 0% 153 44.4% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) superfamily_SSF52058 CACNA1I 8911 genome.wustl.edu 37 22 40080468 40080468 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021096.3 +1 reviewed p.R1998W 0.402 14 0% 35 45.7% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL TNRC6B 23112 genome.wustl.edu 37 22 40662245 40662245 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015088.2 +1 validated p.S671G 1.000 31 0% 21 52.4% 4 50% benign(0.258) deleterious(0.02) neutral(0.410) NULL XPNPEP3 63929 genome.wustl.edu 37 22 41320444 41320444 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022098.2 +1 validated p.S439A 0.995 256 0% 82 48.8% 9 33.3% possibly_damaging(0.929) deleterious(0.03) deleterious(0.740) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase EP300 2033 genome.wustl.edu 37 22 41513189 41513189 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001429.3 +1 reviewed e2-2 1.000 144 0% 82 39% 2 100% - - - - EP300 2033 genome.wustl.edu 37 22 41521884 41521884 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001429.3 +1 reviewed p.N249S 1.000 148 0% 98 52% 14 42.8% probably_damaging(0.973) tolerated(0.31) neutral(0.442) NULL EP300 2033 genome.wustl.edu 37 22 41558739 41558739 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001429.3 +1 reviewed p.K1228N 1.000 192 0% 243 46.9% 34 35.2% unknown(0) deleterious(0) - NULL EP300 2033 genome.wustl.edu 37 22 41562606 41562606 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001429.3 +1 reviewed p.F1270 1.000 174 0% 313 44.1% 47 59.5% - - - NULL POLR3H 171568 genome.wustl.edu 37 22 41939866 41939866 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000432789 -1 known p.F80L 0.000 12 0% 13 53.8% 0 - unknown(0) - - NULL XRCC6 2547 genome.wustl.edu 37 22 42046759 42046759 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001469.3 +1 reviewed p.K331N 0.995 198 0% 181 45.9% 334 48.2% benign(0.124) tolerated(0.13) neutral(0.263) HMMPfam_Ku,HMMSmart_Ku78,superfamily_SPOC-like NHP2L1 4809 genome.wustl.edu 37 22 42071175 42071175 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003796.1 -1 reviewed p.I50T 1.000 151 0% 36 36.1% 351 39.8% benign(0) tolerated(0.37) neutral(0.019) HMMPfam_Ribosomal_L7Ae,superfamily_L30e-like WBP2NL 164684 genome.wustl.edu 37 22 42418298 42418298 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152613.2 +1 validated p.S151Y 0.000 422 0% 303 39.9% 0 - possibly_damaging(0.913) tolerated(0.53) neutral(0.372) HMMPfam_WWbp NFAM1 150372 genome.wustl.edu 37 22 42781196 42781196 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145912.5 -1 reviewed p.E262K 0.012 101 0% 90 46.7% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TTLL12 23170 genome.wustl.edu 37 22 43575962 43575962 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015140.3 -1 validated p.F197 0.998 8 0.000 23 0.522 36 50% - - - NULL SCUBE1 80274 genome.wustl.edu 37 22 43735183 43735183 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173050.2 -1 validated p.I49 1.000 133 0% 79 35.4% 0 - - - - HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 EFCAB6 64800 genome.wustl.edu 37 22 43976442 43976442 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022785.2 -1 validated p.E1044* 0.010 220 0% 158 43.7% 1 0% - - - superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44073887 44073887 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022785.2 -1 validated p.E470* 0.001 185 0% 130 42.3% 0 - - - - HMMSmart_SM00054,superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44074010 44074010 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022785.2 -1 validated p.R429* 0.019 207 0.5% 148 40.5% 0 - - - - superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44107417 44107417 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022785.2 -1 validated p.K323N 0.964 95 0% 45 60% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00054,superfamily_EF-hand SULT4A1 25830 genome.wustl.edu 37 22 44234777 44234777 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014351.3 -1 reviewed p.E160* 1.000 49 0% 62 40.3% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM118A 55007 genome.wustl.edu 37 22 45728467 45728467 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001104595.1 +1 validated p.F271L 1.000 154 0% 101 39.6% 6 16.6% possibly_damaging(0.882) tolerated(0.65) neutral(0.347) NULL SMC1B 27127 genome.wustl.edu 37 22 45779458 45779458 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148674.3 -1 validated p.S649 1.000 172 0% 215 47.9% 1 0% - - - HMMPfam_SMC_N,superfamily_SMC_hinge,superfamily_SSF52540 SMC1B 27127 genome.wustl.edu 37 22 45792368 45792368 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_148674.3 -1 validated e7-2 1.000 298 0% 304 46.4% 0 - - - - - PKDREJ 10343 genome.wustl.edu 37 22 46653599 46653599 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006071.1 -1 reviewed p.H1874R 0.015 44 0% 212 40.1% 0 - benign(0.065) tolerated(0.11) neutral(0.276) HMMPfam_PKD_channel PKDREJ 10343 genome.wustl.edu 37 22 46658014 46658014 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006071.1 -1 reviewed p.E402 0.000 33 0% 69 44.9% 0 - - - - HMMPfam_REJ TRMU 55687 genome.wustl.edu 37 22 46748197 46748197 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018006.4 +1 reviewed p.E248* 1.000 67 0% 150 46% 18 16.6% - - - HMMPfam_tRNA_Me_trans BRD1 23774 genome.wustl.edu 37 22 50216819 50216819 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014577.1 -1 reviewed p.A383T 1.000 36 0% 89 47.2% 38 47.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_PHD ZBED4 9889 genome.wustl.edu 37 22 50279126 50279126 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014838.2 +1 validated p.R606W 0.999 31 0% 79 34.2% 9 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-BED,HMMSmart_SM00614 CRELD2 79174 genome.wustl.edu 37 22 50313429 50313429 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024324.3 +1 validated p.F88 0.997 22 0% 66 40.9% 63 36.5% - - - NULL MLC1 23209 genome.wustl.edu 37 22 50523212 50523212 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015166.3 -1 reviewed p.S40 0.004 17 0% 10 60% 0 - - - - NULL TUBGCP6 85378 genome.wustl.edu 37 22 50662994 50662994 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020461.3 -1 reviewed p.E671* 1.000 65 0% 96 39.6% 14 21.4% - - - HMMPfam_Spc97_Spc98 FAM116B 414918 genome.wustl.edu 37 22 50757491 50757491 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000433760 -1 known p.R12* 0.000 5 0.000 23 0.435 1 0% unknown(0) - - HMMPfam_DUF1630 NCAPH2 29781 genome.wustl.edu 37 22 50956232 50956232 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000496227 +1 known p.A79T 0.000 30 0% 71 40.8% 87 52.8% - - - HMMPfam_DUF1032 CHKB 1120 genome.wustl.edu 37 22 51019966 51019966 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005198.4 -1 reviewed p.T155N 0.957 11 0% 53 52.8% 19 42.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) ASMTL 8623 genome.wustl.edu 37 X 1536926 1536926 + Missense_Mutation SNP C C T rs5989854 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004192.3 -1 reviewed p.E488K 0.991 219 0% 72 41.7% 29 51.7% benign(0.022) tolerated(0.29) neutral(0.030) HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ASMTL 8623 genome.wustl.edu 37 X 1544548 1544548 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004192.3 -1 reviewed p.F310 0.996 24 0% 138 39.9% 17 35.2% - - - "superfamily_""Winged helix"" DNA-binding domain" P2RY8 286530 genome.wustl.edu 37 X 1585234 1585234 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_178129.4 -1 reviewed p.A73V 0.832 62 0% 68 32.4% 0 - benign(0.019) tolerated(0.88) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 ARSE 415 genome.wustl.edu 37 X 2853104 2853104 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000047.2 -1 reviewed p.L513 0.777 189 0% 135 54.1% 56 37.5% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSE 415 genome.wustl.edu 37 X 2876411 2876411 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000047.2 -1 reviewed p.S30F 0.000 236 0% 79 45.6% 32 28.1% possibly_damaging(0.776) tolerated(0.16) neutral(0.349) NULL ARSH 347527 genome.wustl.edu 37 X 2936644 2936644 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001011719.1 +1 validated p.K278N 0.021 298 0% 325 41.8% 0 - benign(0.003) tolerated(0.34) neutral(0.023) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core MXRA5 25878 genome.wustl.edu 37 X 3229627 3229627 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015419.3 -1 reviewed p.L2206P 0.143 35 0% 30 46.7% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3235779 3235779 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015419.3 -1 reviewed p.Q1981H 0.022 58 0% 40 50% 3 66.6% benign(0.156) tolerated(0.35) neutral(0.035) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3239121 3239121 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015419.3 -1 reviewed p.G1535 0.000 586 0% 309 49.2% 3 0% - - - NULL MXRA5 25878 genome.wustl.edu 37 X 3240130 3240130 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015419.3 -1 reviewed p.S1199Y 0.000 289 0% 157 45.2% 2 0% benign(0.156) deleterious(0.01) neutral(0.420) NULL MXRA5 25878 genome.wustl.edu 37 X 3241518 3241518 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015419.3 -1 reviewed p.K736N 0.002 212 0% 128 53.9% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL LOC100128355 100128355 genome.wustl.edu 37 X 3635437 3635437 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343797.1 +1 model p.S151Y 1.000 7 0.000 21 0.429 0 - - - - NULL NLGN4X 57502 genome.wustl.edu 37 X 5811131 5811131 + Silent SNP G G A rs187221748 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020742.2 -1 reviewed p.N726 0.980 578 0.2% 172 48.3% 0 - - - - NULL NLGN4X 57502 genome.wustl.edu 37 X 5811430 5811430 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020742.2 -1 reviewed p.R627* 0.966 747 0% 191 42.9% 1 0% - - - NULL KAL1 3730 genome.wustl.edu 37 X 8504977 8504977 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000216.2 -1 reviewed p.Y486D 0.998 232 0% 108 42.6% 0 - possibly_damaging(0.93) tolerated(0.24) neutral(0.414) HMMSmart_FN3 KAL1 3730 genome.wustl.edu 37 X 8536293 8536293 + Missense_Mutation SNP G G A rs137852517 byCluster;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000216.2 -1 reviewed p.S396L 0.007 408 0% 55 52.7% 0 - benign(0.028) deleterious(0) neutral(0.446) NULL KAL1 3730 genome.wustl.edu 37 X 8565127 8565127 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000216.2 -1 reviewed p.C163 0.832 151 0% 32 31.2% 1 0% - - - HMMPfam_WAP,HMMSmart_WAP,superfamily_WAP,PatternScan_4_DISULFIDE_CORE FAM9A 171482 genome.wustl.edu 37 X 8763131 8763131 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174951.3 -1 validated p.E273D 0.005 216 0.5% 176 43.8% 0 - unknown(0) - - NULL FAM9A 171482 genome.wustl.edu 37 X 8763272 8763272 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174951.3 -1 validated p.E226D 0.047 277 0% 212 40.6% 0 - unknown(0) - - NULL FAM9A 171482 genome.wustl.edu 37 X 8763412 8763412 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174951.3 -1 validated p.E180* 0.001 477 0% 334 43.7% 0 - - - - NULL FAM9B 171483 genome.wustl.edu 37 X 8995941 8995941 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_205849.2 -1 validated p.E154* 0.001 724 0% 300 45.3% 1 0% - - - HMMPfam_Cor1 TBL1X 6907 genome.wustl.edu 37 X 9656302 9656302 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001139466.1 +1 reviewed p.R201 1.000 41 0% 62 43.5% 17 76.4% - - - NULL SHROOM2 357 genome.wustl.edu 37 X 9859061 9859061 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001649.2 +1 reviewed p.K121T 1.000 96 0% 33 27.3% 5 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SHROOM2 357 genome.wustl.edu 37 X 9866272 9866272 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001649.2 +1 reviewed p.E945K 0.012 12 0% 11 54.5% 7 71.4% probably_damaging(0.989) tolerated(0.83) neutral(0.440) NULL WWC3 55841 genome.wustl.edu 37 X 10047819 10047819 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015691.3 +1 validated p.E118* 1.000 227 0% 129 51.9% 0 - - - - NULL WWC3 55841 genome.wustl.edu 37 X 10085340 10085340 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015691.3 +1 validated p.D414V 0.996 34 0% 16 43.8% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL WWC3 55841 genome.wustl.edu 37 X 10093120 10093120 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015691.3 +1 validated p.A628V 0.005 50 0% 12 58.3% 1 100% benign(0.134) tolerated(0.28) neutral(0.043) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ARHGAP6 395 genome.wustl.edu 37 X 11162267 11162267 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013427.2 -1 reviewed p.D670V 1.000 94 0% 42 14.3% 2 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ARHGAP6 395 genome.wustl.edu 37 X 11166831 11166831 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000380732 -1 known p.S671Y 1.000 97 0% 19 57.9% 0 - benign(0.135) deleterious(0.03) neutral(0.376) NULL ARHGAP6 395 genome.wustl.edu 37 X 11204425 11204425 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013427.2 -1 reviewed p.S402C 1.000 193 0% 62 43.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP6 395 genome.wustl.edu 37 X 11206963 11206963 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013427.2 -1 reviewed p.K321T 1.000 442 0% 70 42.9% 0 - possibly_damaging(0.643) tolerated(0.1) deleterious(0.512) NULL ARHGAP6 395 genome.wustl.edu 37 X 11215098 11215098 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013427.2 -1 reviewed p.K256T 1.000 549 0% 350 45.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRMPD4 9758 genome.wustl.edu 37 X 12692997 12692997 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014728.3 +1 reviewed p.S146 1.000 627 0.2% 168 47% 0 - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ FRMPD4 9758 genome.wustl.edu 37 X 12736395 12736395 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014728.3 +1 reviewed p.F1150L 0.510 107 0% 79 38% 0 - benign(0.003) deleterious(0.03) neutral(0.364) NULL PRPS2 5634 genome.wustl.edu 37 X 12828325 12828325 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000489404 +1 known p.R197Q 0.000 74 0% 72 41.7% 1 0% unknown(0) - - NULL TLR8 51311 genome.wustl.edu 37 X 12937523 12937523 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138636.4 +1 reviewed p.L122I 0.208 125 0% 41 41.5% 0 - possibly_damaging(0.719) tolerated(0.24) neutral(0.298) superfamily_SSF52047 TLR8 51311 genome.wustl.edu 37 X 12938993 12938993 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138636.4 +1 reviewed p.E612* 0.974 49 0% 28 39.3% 1 0% - - - superfamily_SSF52058 FAM9C 171484 genome.wustl.edu 37 X 13056593 13056593 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174901.5 -1 validated p.W156* 0.008 538 0% 175 48.6% 0 - - - - NULL ATXN3L 92552 genome.wustl.edu 37 X 13337039 13337039 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135995.1 -1 validated p.D339N 0.001 205 0% 109 46.8% 0 - benign(0.026) tolerated(0.88) neutral(0.001) NULL ATXN3L 92552 genome.wustl.edu 37 X 13337217 13337217 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135995.1 -1 validated p.P279 0.004 277 0% 143 46.2% 0 - - - - NULL ATXN3L 92552 genome.wustl.edu 37 X 13338020 13338020 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001135995.1 -1 validated p.F12L 0.714 101 0% 71 32.4% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Josephin EGFL6 25975 genome.wustl.edu 37 X 13624596 13624596 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015507.3 +1 reviewed p.E207K 0.999 252 0% 114 31.6% 2 0% benign(0.003) tolerated(0.18) neutral(0.056) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_EGF_CA TCEANC 170082 genome.wustl.edu 37 X 13680768 13680768 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152634.2 +1 validated p.D77 0.981 116 0% 81 35.8% 4 50% - - - HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70 TCEANC 170082 genome.wustl.edu 37 X 13680992 13680992 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152634.2 +1 validated p.S152Y 0.000 55 0% 44 18.2% 2 0% possibly_damaging(0.931) deleterious(0.04) deleterious(0.726) NULL RAB9A 9367 genome.wustl.edu 37 X 13727374 13727374 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004251.3 +1 provisional p.R170Q 1.000 80 0% 32 37.5% 104 25% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases OFD1 8481 genome.wustl.edu 37 X 13757139 13757139 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003611.2 +1 reviewed p.E134* 0.997 50 0% 119 39.5% 11 0% - - - NULL GPM6B 2824 genome.wustl.edu 37 X 13801612 13801612 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001995.1 -1 reviewed p.G133* 1.000 179 0% 137 38.7% 20 0% - - - HMMPfam_Myelin_PLP GLRA2 2742 genome.wustl.edu 37 X 14599498 14599498 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001118885.1 +1 reviewed p.S155L 1.000 237 0% 65 38.5% 0 - benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like FANCB 2187 genome.wustl.edu 37 X 14882852 14882852 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001018113.1 -1 reviewed p.R261* 0.009 158 0% 89 44.9% 5 0% - - - NULL FANCB 2187 genome.wustl.edu 37 X 14883283 14883283 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001018113.1 -1 reviewed p.K117T 0.014 53 0% 86 37.2% 2 100% probably_damaging(0.961) tolerated(0.38) neutral(0.422) NULL ASB11 140456 genome.wustl.edu 37 X 15307633 15307633 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080873.1 -1 reviewed p.L216 0.989 62 0% 33 63.6% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ASB11 140456 genome.wustl.edu 37 X 15315763 15315763 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080873.1 -1 reviewed p.S101Y 1.000 78 0% 48 41.7% 0 - possibly_damaging(0.684) deleterious(0) deleterious(0.689) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ASB11 140456 genome.wustl.edu 37 X 15333676 15333676 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080873.1 -1 reviewed p.F18L 1.000 96 0% 135 50.4% 0 - possibly_damaging(0.836) tolerated(1) neutral(0.320) NULL PIR 8544 genome.wustl.edu 37 X 15474093 15474093 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001018109.1 -1 reviewed p.L120V 1.000 148 0% 82 50% 49 97.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RmlC_like_cupin BMX 660 genome.wustl.edu 37 X 15527469 15527469 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001721.6 +1 reviewed p.K52N 0.999 184 0% 96 53.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 BMX 660 genome.wustl.edu 37 X 15549482 15549482 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001721.6 +1 reviewed p.S324L 1.000 343 0% 91 49.5% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 ACE2 59272 genome.wustl.edu 37 X 15584441 15584441 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021804.2 -1 reviewed p.F683L 0.172 340 0% 103 44.7% 0 - benign(0.035) tolerated(0.08) neutral(0.302) NULL ACE2 59272 genome.wustl.edu 37 X 15610400 15610400 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021804.2 -1 reviewed p.K131Q 0.978 263 0% 147 42.2% 0 - benign(0.003) deleterious(0.05) neutral(0.345) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" ZRSR2 8233 genome.wustl.edu 37 X 15840883 15840883 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005089.3 +1 reviewed p.G323* 1.000 96 1% 60 41.7% 26 46.1% - - - HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 GRPR 2925 genome.wustl.edu 37 X 16168646 16168646 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005314.2 +1 reviewed p.S211Y 1.000 492 0% 125 49.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CTPS2 56474 genome.wustl.edu 37 X 16717110 16717110 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144002.1 -1 reviewed p.G91 0.995 130 0% 178 47.8% 15 0% - - - HMMPfam_CTP_synth_N,superfamily_P-loop containing nucleoside triphosphate hydrolases RBBP7 5931 genome.wustl.edu 37 X 16871929 16871929 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002893.3 -1 reviewed p.E212* 1.000 252 0% 154 40.3% 203 0.4% - - - superfamily_WD40 repeat-like RAI2 10742 genome.wustl.edu 37 X 17818545 17818545 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021785.4 -1 reviewed p.R529I 1.000 207 0% 305 51.8% 40 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RAI2 10742 genome.wustl.edu 37 X 17818977 17818977 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021785.4 -1 reviewed p.S385Y 0.992 88 0% 48 52.1% 67 100% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL RAI2 10742 genome.wustl.edu 37 X 17819857 17819857 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021785.4 -1 reviewed p.I92V 1.000 174 0% 31 51.6% 62 96.7% unknown(0) tolerated(0.21) - NULL BEND2 139105 genome.wustl.edu 37 X 18213474 18213474 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153346.4 -1 validated p.S374 0.001 315 0% 256 36.3% 0 - - - - NULL BEND2 139105 genome.wustl.edu 37 X 18221624 18221624 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153346.4 -1 validated p.L302V 0.011 175 0% 62 46.8% 0 - benign(0.273) deleterious(0.01) neutral(0.435) NULL SCML2 10389 genome.wustl.edu 37 X 18343049 18343049 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006089.2 -1 validated p.A47D 1.000 124 0% 100 11% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT CDKL5 6792 genome.wustl.edu 37 X 18622315 18622315 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037343.1 +1 reviewed p.K424T 1.000 192 0% 72 30.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CDKL5 6792 genome.wustl.edu 37 X 18668532 18668532 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037343.1 +1 reviewed p.E934* 0.000 120 0% 65 38.5% 0 - - - - NULL PPEF1 5475 genome.wustl.edu 37 X 18748384 18748384 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006240.2 +1 reviewed p.I44 1.000 343 0% 105 43.8% 0 - - - - NULL PPEF1 5475 genome.wustl.edu 37 X 18807246 18807246 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006240.2 +1 reviewed p.S307Y 1.000 330 0% 138 41.3% 0 - possibly_damaging(0.612) deleterious(0) deleterious(0.656) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases GPR64 10149 genome.wustl.edu 37 X 19017277 19017277 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079858.2 -1 validated p.K817N 1.000 143 0% 134 41% 0 - benign(0.344) tolerated(0.15) neutral(0.349) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like GPR64 10149 genome.wustl.edu 37 X 19017287 19017287 + Missense_Mutation SNP C C T rs184370776 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079858.2 -1 validated p.R814Q 1.000 131 0% 131 50.4% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like GPR64 10149 genome.wustl.edu 37 X 19026200 19026200 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079858.2 -1 validated p.T488 0.000 115 0% 104 45.2% 1 100% - - - NULL GPR64 10149 genome.wustl.edu 37 X 19031901 19031901 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001079858.2 -1 validated p.V334 0.000 130 0% 72 50% 0 - - - - NULL MAP3K15 389840 genome.wustl.edu 37 X 19380892 19380892 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001671.3 -1 validated p.E690* 1.000 139 0% 272 34.2% 1 0% - - - NULL MAP3K15 389840 genome.wustl.edu 37 X 19392701 19392701 + Silent SNP G G A rs185966397 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001671.3 -1 validated p.F364 1.000 283 0% 89 42.7% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAP3K15 389840 genome.wustl.edu 37 X 19410218 19410218 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001001671.3 -1 validated p.N253T 1.000 178 0% 58 44.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase MAP7D2 256714 genome.wustl.edu 37 X 20028927 20028927 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152780.3 -1 validated p.F731L 1.000 163 0.6% 116 48.3% 1 100% benign(0.409) tolerated(0.08) neutral(0.432) NULL MAP7D2 256714 genome.wustl.edu 37 X 20030576 20030576 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152780.3 -1 validated p.F614V 0.994 311 0% 91 39.6% 3 33.3% benign(0.311) deleterious(0) deleterious(0.541) NULL MAP7D2 256714 genome.wustl.edu 37 X 20034397 20034397 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152780.3 -1 validated p.R446C 0.011 487 0% 252 44.8% 3 33.3% unknown(0) deleterious(0) - HMMPfam_MAP7 RPS6KA3 6197 genome.wustl.edu 37 X 20204442 20204442 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004586.2 -1 reviewed p.R273* 1.000 349 0% 175 46.9% 1 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPS6KA3 6197 genome.wustl.edu 37 X 20227435 20227435 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004586.2 -1 reviewed p.K72Q 1.000 653 0% 160 43.1% 0 - benign(0.254) deleterious(0.01) neutral(0.432) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CNKSR2 22866 genome.wustl.edu 37 X 21544998 21544998 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014927.3 +1 reviewed p.R324I 1.000 248 0% 14 50% 0 - probably_damaging(0.992) deleterious(0.04) deleterious(0.796) NULL SMS 6611 genome.wustl.edu 37 X 21990627 21990627 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004595.2 +1 reviewed p.I89M 0.992 151 0% 110 40.9% 212 0% benign(0.064) tolerated(0.06) neutral(0.327) NULL PHEX 5251 genome.wustl.edu 37 X 22065220 22065220 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000444.4 +1 reviewed p.F80L 1.000 472 0% 219 38.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Peptidase_M13_N,superfamily_SSF55486 PHEX 5251 genome.wustl.edu 37 X 22245665 22245665 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000444.4 +1 reviewed p.E669D 0.996 245 0% 81 29.6% 0 - probably_damaging(0.958) tolerated(0.06) deleterious(0.724) HMMPfam_Peptidase_M13,superfamily_SSF55486 ZNF645 158506 genome.wustl.edu 37 X 22291473 22291473 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152577.2 +1 provisional p.R122I 0.414 96 0% 38 36.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_ZnF_C2H2 ZNF645 158506 genome.wustl.edu 37 X 22291568 22291568 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152577.2 +1 provisional p.R154C 0.000 123 0% 33 36.4% 0 - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL DDX53 168400 genome.wustl.edu 37 X 23019024 23019024 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182699.2 +1 validated p.L284I 0.891 107 0% 89 38.2% 0 - benign(0.004) tolerated(1) - HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 DDX53 168400 genome.wustl.edu 37 X 23019983 23019983 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182699.2 +1 validated p.Q603H 0.007 78 0% 76 42.1% 0 - possibly_damaging(0.942) deleterious(0) deleterious(0.832) superfamily_SSF52540 ENSG00000249566 0 genome.wustl.edu 37 X 23093964 23093964 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000508288 -1 novel NULL 0.997 152 0% 168 42.9% 49 0% - - - - SAT1 6303 genome.wustl.edu 37 X 23803448 23803448 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002970.2 +1 reviewed p.H69R 0.999 417 0% 408 52.7% 378 83% benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) CXorf58 254158 genome.wustl.edu 37 X 23953447 23953447 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152761.2 +1 validated p.I230 0.702 120 0% 98 44.9% 0 - - - - NULL KLHL15 80311 genome.wustl.edu 37 X 24006939 24006939 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030624.2 -1 reviewed p.R305I 1.000 94 0% 94 43.6% 3 0% benign(0.202) deleterious(0.03) neutral(0.384) superfamily_Gal_oxid_central KLHL15 80311 genome.wustl.edu 37 X 24024677 24024677 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_030624.2 -1 reviewed p.H45R 1.000 224 0% 73 37% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB FAM48B2 170067 genome.wustl.edu 37 X 24330937 24330937 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136233.1 -1 provisional p.L166I 1.000 246 0% 230 44.8% 0 - - - - NULL FAM48B1 100130302 genome.wustl.edu 37 X 24383318 24383318 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136234.1 +1 inferred p.Q814R 0.000 74 0% 38 31.6% 0 - - - - NULL PDK3 5165 genome.wustl.edu 37 X 24545733 24545733 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142386.2 +1 reviewed p.E265K 1.000 244 0% 170 36.5% 19 0% benign(0.029) tolerated(0.42) neutral(0.015) HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase POLA1 5422 genome.wustl.edu 37 X 24721418 24721418 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016937.3 +1 reviewed p.S67 0.001 171 0% 123 46.3% 10 0% - - - NULL POLA1 5422 genome.wustl.edu 37 X 24732735 24732735 + Silent SNP G G A rs187670867 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016937.3 +1 reviewed p.P131 0.963 79 0% 157 43.3% 7 100% - - - NULL DCAF8L1 139425 genome.wustl.edu 37 X 27998898 27998898 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001017930.1 -1 reviewed p.R185H 0.998 117 0% 45 53.3% 0 - possibly_damaging(0.661) deleterious(0) deleterious(0.678) HMMSmart_WD40,superfamily_WD40_like TAB3 257397 genome.wustl.edu 37 X 30849645 30849645 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152787.3 -1 reviewed p.E680* 1.000 272 0% 89 47.2% 8 0% - - - NULL TAB3 257397 genome.wustl.edu 37 X 30873360 30873360 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152787.3 -1 reviewed p.F141C 1.000 232 0% 59 44.1% 3 0% probably_damaging(0.995) tolerated(0.1) deleterious(0.744) NULL DMD 1756 genome.wustl.edu 37 X 31201001 31201001 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000465285 -1 known p.R1005* 0.411 168 0% 29 48.3% 0 - - - - HMMPfam_efhand_2,superfamily_EF-hand DMD 1756 genome.wustl.edu 37 X 32235099 32235099 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004006.2 -1 reviewed p.E2124 1.000 211 0% 37 10.8% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32364164 32364164 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004006.2 -1 reviewed p.L1828 1.000 265 0% 73 38.4% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32613950 32613950 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004006.2 -1 reviewed p.S509Y 1.000 384 0.5% 138 60.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32867891 32867891 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004006.2 -1 reviewed p.G47V 1.000 187 0% 55 47.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain FAM47A 158724 genome.wustl.edu 37 X 34148689 34148689 + Missense_Mutation SNP G G T rs191524414 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203408.3 -1 validated p.F569L 0.004 325 0% 195 17.9% 0 - possibly_damaging(0.484) tolerated(0.66) neutral(0.163) NULL FAM47A 158724 genome.wustl.edu 37 X 34149288 34149288 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_203408.3 -1 validated p.R370C 0.004 110 0% 37 35.1% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL FAM47B 170062 genome.wustl.edu 37 X 34961381 34961381 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152631.2 +1 validated p.L145F 0.173 186 0% 88 52.3% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL FAM47B 170062 genome.wustl.edu 37 X 34962508 34962508 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152631.2 +1 validated p.V520 0.001 236 0% 145 37.9% 0 - - - - NULL CXorf22 170063 genome.wustl.edu 37 X 35970050 35970050 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152632.3 +1 validated p.K339M 0.997 147 0% 38 47.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CXorf22 170063 genome.wustl.edu 37 X 36007545 36007545 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152632.3 +1 validated p.L941F 0.000 322 0% 185 40% 0 - possibly_damaging(0.459) tolerated(0.14) neutral(0.400) NULL CXorf59 286464 genome.wustl.edu 37 X 36122751 36122751 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173695.2 +1 validated p.W330R 1.000 265 0% 45 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calponin-homology CXorf59 286464 genome.wustl.edu 37 X 36162889 36162889 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173695.2 +1 validated p.R491M 0.005 162 0% 42 40.5% 1 0% unknown(0) - - NULL CXorf30 645090 genome.wustl.edu 37 X 36317140 36317140 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098843.3 +1 validated p.L25I 0.000 231 0% 69 27.5% 0 - benign(0.001) tolerated(0.73) neutral(0.002) NULL CXorf30 645090 genome.wustl.edu 37 X 36319284 36319284 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001098843.3 +1 validated p.D100N 1.000 146 0% 78 35.9% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL FAM47C 442444 genome.wustl.edu 37 X 37026589 37026589 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013736.2 +1 validated p.R36 0.011 147 0% 77 51.9% 0 - - - - NULL FAM47C 442444 genome.wustl.edu 37 X 37027003 37027003 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013736.2 +1 validated p.E174K 0.000 91 0% 79 44.3% 0 - possibly_damaging(0.672) tolerated(0.25) neutral(0.275) NULL FAM47C 442444 genome.wustl.edu 37 X 37028109 37028109 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013736.2 +1 validated p.S542 0.001 161 0% 73 42.5% 0 - - - - NULL CYBB 1536 genome.wustl.edu 37 X 37641412 37641412 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000397.3 +1 reviewed p.F39L 0.002 522 0% 89 40.4% 2 0% benign(0.133) tolerated(0.27) neutral(0.044) NULL CYBB 1536 genome.wustl.edu 37 X 37658233 37658233 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000397.3 +1 reviewed p.E234* 0.000 205 0% 27 44.4% 0 - - - - NULL SRPX 8406 genome.wustl.edu 37 X 38019361 38019361 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006307.4 -1 validated p.F288L 1.000 165 0% 45 51.1% 1 0% possibly_damaging(0.829) deleterious(0.01) deleterious(0.720) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain RPGR 6103 genome.wustl.edu 37 X 38145282 38145282 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001034853.1 -1 reviewed p.G990 0.012 16 0% 34 44.1% 0 - - - - NULL OTC 5009 genome.wustl.edu 37 X 38260657 38260657 + Silent SNP C C T rs72556280 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000531.5 +1 reviewed p.I172 1.000 358 0% 119 45.4% 0 - - - - superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace_N BCOR 54880 genome.wustl.edu 37 X 39911598 39911598 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001123385.1 -1 reviewed p.R1678C 0.998 56 0% 60 41.7% 44 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BCOR 54880 genome.wustl.edu 37 X 39932570 39932570 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001123385.1 -1 reviewed p.G677* 1.000 47 0% 85 37.6% 15 0% - - - NULL CXorf38 159013 genome.wustl.edu 37 X 40506329 40506329 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144970.2 -1 validated p.R94I 1.000 54 0% 19 47.4% 11 9% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL MED14 9282 genome.wustl.edu 37 X 40523564 40523564 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004229.3 -1 reviewed p.G1148E 1.000 282 0% 61 45.9% 34 0% possibly_damaging(0.796) tolerated(0.28) neutral(0.331) NULL MED14 9282 genome.wustl.edu 37 X 40547716 40547716 + Missense_Mutation SNP G G A rs182643914 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004229.3 -1 reviewed p.R683C 1.000 122 0% 39 43.6% 10 90% benign(0.026) deleterious(0.04) neutral(0.350) NULL MED14 9282 genome.wustl.edu 37 X 40568616 40568616 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004229.3 -1 reviewed p.F423L 1.000 104 0% 48 12.5% 10 30% benign(0.007) tolerated(0.4) neutral(0.016) NULL MED14 9282 genome.wustl.edu 37 X 40568693 40568693 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004229.3 -1 reviewed p.E398* 1.000 136 0% 45 37.8% 11 9% - - - NULL MED14 9282 genome.wustl.edu 37 X 40570550 40570550 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004229.3 -1 reviewed p.S298Y 1.000 156 0% 73 45.2% 8 100% benign(0.007) tolerated(0.93) - NULL USP9X 8239 genome.wustl.edu 37 X 41055531 41055531 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039590.2 +1 reviewed p.Q1335 0.995 434 0% 182 41.2% 27 29.6% unknown(0) - - NULL USP9X 8239 genome.wustl.edu 37 X 41075904 41075904 + Silent SNP C C T rs146661515 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039590.2 +1 reviewed p.P2028 1.000 34 0% 49 40.8% 43 9.3% - - - NULL DDX3X 1654 genome.wustl.edu 37 X 41202549 41202549 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001356.3 +1 reviewed p.K208N 1.000 218 0% 142 50.7% 171 56.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX3X 1654 genome.wustl.edu 37 X 41204491 41204491 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001356.3 +1 reviewed p.R362C 0.998 354 0% 229 43.7% 286 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CASK 8573 genome.wustl.edu 37 X 41519788 41519788 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003688.3 -1 reviewed p.I245 1.000 384 0% 72 36.1% 20 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CASK 8573 genome.wustl.edu 37 X 41646534 41646534 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003688.3 -1 reviewed p.L59 1.000 242 0% 152 44.7% 11 81.8% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAOA 4128 genome.wustl.edu 37 X 43542759 43542759 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000240.2 +1 reviewed e2-2 0.994 609 0% 331 43.2% 0 - - - - - MAOB 4129 genome.wustl.edu 37 X 43655003 43655003 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000898.4 -1 reviewed p.N251H 0.998 328 0% 89 37.1% 5 0% benign(0.013) deleterious(0.01) neutral(0.406) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain MAOB 4129 genome.wustl.edu 37 X 43655067 43655067 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000898.4 -1 reviewed p.V229 1.000 332 0% 72 59.7% 4 0% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain EFHC2 80258 genome.wustl.edu 37 X 44171909 44171909 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000333807 -1 known p.E46* 1.000 332 0% 199 46.2% 1 0% - - - NULL FUNDC1 139341 genome.wustl.edu 37 X 44401345 44401345 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173794.3 -1 validated p.Y11D 0.975 156 0% 130 45.4% 22 95.4% benign(0.014) tolerated(0.64) neutral(0.004) NULL DUSP21 63904 genome.wustl.edu 37 X 44703567 44703567 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022076.3 +1 reviewed p.F63 0.005 375 0% 104 49% 0 - - - - HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 KDM6A 7403 genome.wustl.edu 37 X 44820603 44820603 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021140.2 +1 reviewed p.G100 1.000 487 0.2% 296 43.6% 4 0% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 CXorf36 79742 genome.wustl.edu 37 X 45059856 45059856 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_176819.3 -1 validated p.F72 1.000 154 0% 90 52.2% 2 0% - - - NULL ZNF674 641339 genome.wustl.edu 37 X 46359975 46359975 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001039891.2 -1 validated p.R350I 0.018 259 0% 164 11.6% 1 0% possibly_damaging(0.578) deleterious(0.04) deleterious(0.547) NULL CHST7 56548 genome.wustl.edu 37 X 46433807 46433807 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019886.2 +1 reviewed p.E147D 1.000 35 0% 17 47.1% 0 - possibly_damaging(0.797) tolerated(0.52) neutral(0.308) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 SLC9A7 84679 genome.wustl.edu 37 X 46539181 46539181 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032591.1 -1 reviewed p.D179N 1.000 82 0% 66 39.4% 3 100% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Na_H_Exchanger UBA1 7317 genome.wustl.edu 37 X 47069480 47069480 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003334.3 +1 reviewed p.S719 0.857 115 0% 34 52.9% 349 73.6% - - - superfamily_MoeB USP11 8237 genome.wustl.edu 37 X 47092434 47092434 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004651.3 +1 reviewed p.R41W 0.004 51 0% 12 75% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ZNF157 7712 genome.wustl.edu 37 X 47271933 47271933 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003446.3 +1 reviewed p.R154I 0.004 211 0% 105 49.5% 0 - possibly_damaging(0.893) tolerated(0.14) deleterious(0.601) superfamily_SSF57667 ZNF157 7712 genome.wustl.edu 37 X 47271951 47271951 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003446.3 +1 reviewed p.K160T 0.989 181 0% 106 36.8% 1 0% benign(0.063) deleterious(0.01) neutral(0.410) superfamily_SSF57667 ARAF 369 genome.wustl.edu 37 X 47422455 47422455 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001654.3 +1 reviewed p.R30H 1.000 85 0% 59 50.8% 18 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RBD,HMMSmart_RBD,superfamily_SSF54236 SYN1 6853 genome.wustl.edu 37 X 47435985 47435985 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006950.3 -1 reviewed p.T298A 1.000 402 0% 85 34.1% 0 - possibly_damaging(0.943) tolerated(0.42) neutral(0.402) HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like SYN1 6853 genome.wustl.edu 37 X 47464776 47464776 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006950.3 -1 reviewed p.S177Y 1.000 85 0% 53 35.8% 0 - possibly_damaging(0.951) deleterious(0) deleterious(0.839) HMMPfam_Synapsin,superfamily_PreATP-grasp domain SYN1 6853 genome.wustl.edu 37 X 47466585 47466585 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006950.3 -1 reviewed p.F130L 1.000 199 0% 462 42.6% 0 - probably_damaging(0.964) deleterious(0.05) deleterious(0.752) HMMPfam_Synapsin,superfamily_PreATP-grasp domain ZNF630 57232 genome.wustl.edu 37 X 47918311 47918311 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037735.2 -1 validated p.R507I 1.000 192 0% 130 46.2% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF630 57232 genome.wustl.edu 37 X 47919548 47919548 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001037735.2 -1 validated p.E95* 0.983 82 0% 82 50% 1 100% - - - NULL SSX5 6758 genome.wustl.edu 37 X 48049671 48049671 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021015.3 -1 reviewed p.D163Y 0.000 399 0% 211 45.5% 0 - benign(0.003) deleterious(0.01) neutral(0.406) NULL SSX1 6756 genome.wustl.edu 37 X 48117269 48117269 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005635.2 +1 reviewed p.R53I 0.672 593 0% 465 37.8% 0 - benign(0.01) deleterious(0.02) neutral(0.384) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box EBP 10682 genome.wustl.edu 37 X 48382228 48382228 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006579.2 +1 reviewed p.P23 0.995 295 0% 81 42% 84 94% - - - NULL TBC1D25 4943 genome.wustl.edu 37 X 48419066 48419066 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002536.2 +1 validated p.P590 0.000 78 0% 61 47.5% 12 0% - - - superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D25 4943 genome.wustl.edu 37 X 48419185 48419185 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002536.2 +1 validated p.R630H 0.999 62 0% 49 49% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ypt/Rab-GAP domain of gyp1p WAS 7454 genome.wustl.edu 37 X 48542781 48542781 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000377.2 +1 reviewed p.K81T 1.000 116 0% 74 35.1% 7 0% possibly_damaging(0.856) deleterious(0) deleterious(0.775) HMMPfam_WH1,HMMSmart_WH1,superfamily_SSF50729 SUV39H1 6839 genome.wustl.edu 37 X 48565968 48565968 + Nonstop_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000337852 +1 known p.*390Y 0.799 149 0% 31 35.5% 15 0% - - - NULL GATA1 2623 genome.wustl.edu 37 X 48652242 48652242 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002049.3 +1 reviewed p.R305* 0.985 58 0% 22 54.5% 0 - - - - superfamily_Glucocorticoid receptor-like (DNA-binding domain) HDAC6 10013 genome.wustl.edu 37 X 48661140 48661140 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006044.2 +1 reviewed p.R14Q 0.015 112 0% 65 35.4% 11 0% unknown(0) deleterious(0) - NULL HDAC6 10013 genome.wustl.edu 37 X 48664814 48664814 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006044.2 +1 reviewed p.M159I 1.000 176 0% 68 48.5% 23 0% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMPfam_Hist_deacetyl,superfamily_SSF52768 OTUD5 55593 genome.wustl.edu 37 X 48801514 48801514 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017602.3 -1 reviewed p.D209Y 1.000 54 0% 58 50% 43 0% possibly_damaging(0.925) tolerated(0.06) deleterious(0.696) superfamily_Cysteine proteinases TFE3 7030 genome.wustl.edu 37 X 48891020 48891020 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006521.4 -1 reviewed p.I366V 1.000 180 0% 101 36.6% 44 0% possibly_damaging(0.889) deleterious(0) deleterious(0.794) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic PRICKLE3 4007 genome.wustl.edu 37 X 49034343 49034343 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000453382 -1 known p.R331W 0.202 114 0% 23 39.1% 12 83.3% - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) CACNA1F 778 genome.wustl.edu 37 X 49079042 49079042 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005183.2 -1 reviewed p.L754I 1.000 135 0% 103 44.7% 0 - possibly_damaging(0.484) deleterious(0) deleterious(0.605) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CLCN5 1184 genome.wustl.edu 37 X 49840503 49840503 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001127898.1 +1 reviewed p.E157* 1.000 478 0% 98 40.8% 0 - - - - superfamily_Clc chloride channel AKAP4 8852 genome.wustl.edu 37 X 49957010 49957010 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003886.2 -1 reviewed p.Q785P 0.844 225 0.4% 44 45.5% 0 - benign(0.406) deleterious(0.02) deleterious(0.514) HMMPfam_AKAP_110,HMMSmart_SM00807 CCNB3 85417 genome.wustl.edu 37 X 50037906 50037906 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033031.2 +1 reviewed p.K83T 0.002 331 0% 159 49.7% 0 - possibly_damaging(0.875) - - NULL CCNB3 85417 genome.wustl.edu 37 X 50052844 50052844 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033031.2 +1 reviewed p.D559Y 0.001 35 0% 22 27.3% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL CCNB3 85417 genome.wustl.edu 37 X 50054196 50054196 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033031.2 +1 reviewed p.F1009 0.000 186 0% 46 67.4% 0 - - - - NULL SHROOM4 57477 genome.wustl.edu 37 X 50339689 50339689 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_027121.1 -1 reviewed NULL 0.000 79 0% 19 42.1% 0 - - - - - SHROOM4 57477 genome.wustl.edu 37 X 50376276 50376276 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020717.3 -1 reviewed p.R933W 0.985 150 0% 79 48.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ENSG00000245461 0 genome.wustl.edu 37 X 51488722 51488722 + RNA SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000502175 -1 novel NULL 0.981 34 0% 55 50.9% 1 0% - - - - MAGED1 9500 genome.wustl.edu 37 X 51638371 51638371 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005333.1 +1 reviewed p.G146S 1.000 108 0% 43 51.2% 120 0% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL MAGED1 9500 genome.wustl.edu 37 X 51638376 51638376 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005333.1 +1 reviewed p.V147 1.000 108 0% 45 31.1% 128 91.4% - - - NULL MAGED1 9500 genome.wustl.edu 37 X 51640890 51640890 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005333.1 +1 reviewed e7-1 1.000 184 0% 179 10.1% 0 - - - - - MAGED1 9500 genome.wustl.edu 37 X 51641229 51641229 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001005333.1 +1 reviewed p.L616F 1.000 420 0% 205 46.3% 324 0.3% unknown(0) tolerated(0.12) - HMMPfam_MAGE TSPYL2 64061 genome.wustl.edu 37 X 53115363 53115363 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022117.3 +1 reviewed p.D597N 0.999 440 0% 235 48.1% 56 0% possibly_damaging(0.509) deleterious(0) deleterious(0.615) NULL RIBC1 158787 genome.wustl.edu 37 X 53454996 53454996 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001031745.1 +1 provisional p.R55W 0.131 658 0.2% 136 50.7% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RIB43A HUWE1 10075 genome.wustl.edu 37 X 53564536 53564536 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031407.4 -1 reviewed p.E4040* 1.000 313 0.6% 123 44.7% 132 0% - - - HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HUWE1 10075 genome.wustl.edu 37 X 53571546 53571546 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000427052 -1 known p.E2776* 1.000 252 0% 35 40% 111 0.9% unknown(0) tolerated(0.33) - NULL HUWE1 10075 genome.wustl.edu 37 X 53590732 53590732 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000427052 -1 known p.R1394W 1.000 344 0.3% 150 44.7% 48 93.7% - - - superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53634632 53634632 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031407.4 -1 reviewed p.N783S 1.000 172 0% 99 37.4% 13 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF913 HUWE1 10075 genome.wustl.edu 37 X 53655837 53655837 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031407.4 -1 reviewed p.S327Y 1.000 163 0% 125 44.8% 11 0% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMPfam_DUF908,superfamily_ARM repeat WNK3 65267 genome.wustl.edu 37 X 54228503 54228503 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020922.4 -1 reviewed p.S1665F 0.974 365 0% 323 44% 1 100% benign(0.001) tolerated(0.17) neutral(0.059) NULL WNK3 65267 genome.wustl.edu 37 X 54277993 54277993 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020922.4 -1 reviewed p.S832Y 0.000 255 0% 124 41.1% 0 - possibly_damaging(0.808) deleterious(0) deleterious(0.748) superfamily_Kinase_like WNK3 65267 genome.wustl.edu 37 X 54328244 54328244 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020922.4 -1 reviewed p.E380* 1.000 772 0% 381 42% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase WNK3 65267 genome.wustl.edu 37 X 54334477 54334477 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020922.4 -1 reviewed p.E323* 1.000 335 0% 193 35.8% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase WNK3 65267 genome.wustl.edu 37 X 54337640 54337640 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020922.4 -1 reviewed p.R208* 1.000 212 0% 218 41.3% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase WNK3 65267 genome.wustl.edu 37 X 54359800 54359800 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020922.4 -1 reviewed p.E103* 1.000 411 0% 293 44% 1 0% - - - NULL WNK3 65267 genome.wustl.edu 37 X 54359973 54359973 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020922.4 -1 reviewed p.T45I 0.027 160 0% 128 40.6% 0 - possibly_damaging(0.619) tolerated(0.37) neutral(0.234) NULL FGD1 2245 genome.wustl.edu 37 X 54482718 54482718 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004463.2 -1 reviewed p.K593Q 1.000 195 0% 66 50% 57 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 GNL3L 54552 genome.wustl.edu 37 X 54559005 54559005 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019067.5 +1 reviewed p.M2I 0.997 166 0% 195 43.1% 8 100% benign(0) deleterious(0) neutral(0.445) NULL GNL3L 54552 genome.wustl.edu 37 X 54585084 54585084 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019067.5 +1 reviewed p.R554 0.963 92 0% 23 34.8% 12 8.3% - - - NULL ITIH6 347365 genome.wustl.edu 37 X 54784303 54784303 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198510.2 -1 reviewed p.T735N 0.000 644 0% 159 41.5% 0 - benign(0.016) deleterious(0) neutral(0.445) NULL ITIH6 347365 genome.wustl.edu 37 X 54818409 54818409 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198510.2 -1 reviewed p.I106 0.985 844 0% 436 45.6% 0 - - - - HMMSmart_VIT,HMMPfam_VIT MAGED2 10916 genome.wustl.edu 37 X 54836183 54836183 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014599.4 +1 reviewed p.S25L 0.002 508 0% 193 44% 246 0% benign(0) tolerated(0.8) neutral(0.001) NULL LOC100288052 100288052 genome.wustl.edu 37 X 54842131 54842131 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002344195.1 -1 model p.R7 0.111 24 0.000 9 0.778 10 0% - - - NULL PAGE2 203569 genome.wustl.edu 37 X 55117022 55117022 + Missense_Mutation SNP C C A rs2453228 byCluster TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_207339.2 +1 provisional p.Q58K 0.002 472 0% 163 42.9% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_GAGE MAGEH1 28986 genome.wustl.edu 37 X 55479304 55479304 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014061.3 +1 reviewed p.R166Q 0.226 122 0% 39 48.7% 11 54.5% probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_MAGE USP51 158880 genome.wustl.edu 37 X 55513396 55513396 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_201286.3 -1 validated p.G659 1.000 130 0% 151 41.1% 6 0% - - - HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_SSF54001 RRAGB 10325 genome.wustl.edu 37 X 55782281 55782281 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016656.3 +1 validated p.S276Y 1.000 111 0% 93 38.7% 16 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Gtr1_RagA,superfamily_P-loop containing nucleoside triphosphate hydrolases KLF8 11279 genome.wustl.edu 37 X 56295863 56295863 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007250.4 +1 reviewed p.E233D 0.997 357 0% 60 48.3% 0 - benign(0.008) tolerated(0.57) neutral(0.006) NULL FAAH2 158584 genome.wustl.edu 37 X 57313440 57313440 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174912.3 +1 reviewed p.R61Q 0.939 186 0% 33 42.4% 7 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Amidase signature (AS) enzymes FAAH2 158584 genome.wustl.edu 37 X 57367776 57367776 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_174912.3 +1 reviewed p.R232Q 1.000 539 0% 58 56.9% 13 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes,PatternScan_AMIDASES ZXDB 158586 genome.wustl.edu 37 X 57620489 57620489 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_007157.3 +1 validated p.D670N 1.000 99 0% 99 39.4% 2 50% possibly_damaging(0.67) deleterious(0) deleterious(0.682) NULL FAM123B 139285 genome.wustl.edu 37 X 63411366 63411366 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152424.3 -1 reviewed p.R601* 0.000 123 0% 38 34.2% 5 0% - - - NULL ASB12 142689 genome.wustl.edu 37 X 63444798 63444798 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_130388.2 -1 reviewed p.D236N 0.997 489 0% 80 47.5% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK MTMR8 55613 genome.wustl.edu 37 X 63488628 63488628 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017677.3 -1 reviewed p.G635D 0.000 268 0% 67 16.4% 0 - probably_damaging(0.998) - - NULL ZC4H2 55906 genome.wustl.edu 37 X 64140107 64140107 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018684.2 -1 validated p.E84D 0.998 417 0% 114 37.7% 44 0% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_zf-C4H2 ZC3H12B 340554 genome.wustl.edu 37 X 64708943 64708943 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010888.3 +1 reviewed p.R77C 0.959 111 0% 39 35.9% 5 0% probably_damaging(0.956) deleterious(0.01) deleterious(0.805) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64722449 64722449 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001010888.3 +1 reviewed p.R613L 0.991 165 0% 42 33.3% 1 0% benign(0.267) deleterious(0) deleterious(0.473) NULL LOC100129585 100129585 genome.wustl.edu 37 X 65176054 65176054 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001721365.2 -1 model p.E115* 0.685 26 0% 15 40% 1 0% - - - NULL HEPH 9843 genome.wustl.edu 37 X 65417560 65417560 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138737.3 +1 reviewed p.E516* 0.990 214 0.5% 20 55% 3 0% - - - superfamily_Cupredoxins EDA2R 60401 genome.wustl.edu 37 X 65835850 65835850 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021783.2 -1 reviewed p.E5* 1.000 285 0% 24 50% 3 0% - - - HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like LOC100129144 100129144 genome.wustl.edu 37 X 66594510 66594510 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001721427.1 +1 model p.E181D 0.972 42 0% 12 50% 0 - - - - superfamily_C2H2 and C2HC zinc fingers AR 367 genome.wustl.edu 37 X 66943614 66943614 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000044.2 +1 reviewed p.E898D 1.000 244 0% 57 36.8% 3 0% possibly_damaging(0.698) deleterious(0.03) deleterious(0.615) HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain OPHN1 4983 genome.wustl.edu 37 X 67414307 67414307 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002547.2 -1 reviewed p.M380L 1.000 358 0% 139 46.8% 2 0% benign(0.002) tolerated(0.25) neutral(0.037) superfamily_Rho_GAP IGBP1 3476 genome.wustl.edu 37 X 69354503 69354503 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001551.2 +1 reviewed p.E107* 1.000 161 0% 117 39.3% 78 0% - - - HMMPfam_TAP42 P2RY4 5030 genome.wustl.edu 37 X 69479126 69479126 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002565.3 -1 reviewed p.W117R 0.983 232 0% 37 51.4% 1 100% possibly_damaging(0.62) tolerated(0.12) deleterious(0.477) HMMPfam_7tm_1,superfamily_SSF81321 ARR3 407 genome.wustl.edu 37 X 69489205 69489205 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004312.2 +1 validated e1-1 0.974 390 0% 138 47.8% 0 - - - - - ARR3 407 genome.wustl.edu 37 X 69497581 69497581 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004312.2 +1 validated p.E209* 0.988 154 0% 111 55% 0 - - - - HMMPfam_Arrestin_C,superfamily_E set domains KIF4A 24137 genome.wustl.edu 37 X 69595064 69595064 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012310.4 +1 reviewed p.R597C 1.000 120 0% 70 47.1% 26 0% probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL KIF4A 24137 genome.wustl.edu 37 X 69625746 69625746 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012310.4 +1 reviewed p.I989 0.035 117 0% 91 35.2% 47 0% - - - NULL DLG3 1741 genome.wustl.edu 37 X 69699063 69699063 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021120.3 +1 reviewed p.S490N 1.000 293 0% 99 40.4% 28 0% unknown(0) tolerated(0.06) - superfamily_SH3-domain DLG3 1741 genome.wustl.edu 37 X 69722044 69722044 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021120.3 +1 reviewed p.I793M 1.000 370 0% 161 49.7% 48 100% possibly_damaging(0.795) deleterious(0) deleterious(0.743) HMMSmart_SM00072,HMMPfam_Gua_kin_assoc_C,superfamily_P-loop containing nucleoside triphosphate hydrolases TEX11 56159 genome.wustl.edu 37 X 69748972 69748972 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003811.1 -1 reviewed p.E932 0.014 294 0% 84 44% 0 - - - - NULL TEX11 56159 genome.wustl.edu 37 X 69830377 69830377 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001003811.1 -1 reviewed p.R605* 0.742 297 0% 150 50.7% 0 - - - - NULL FOXO4 4303 genome.wustl.edu 37 X 70321275 70321275 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005938.3 +1 reviewed p.L399 0.940 74 0% 34 50% 3 66.6% - - - NULL CXorf65 158830 genome.wustl.edu 37 X 70323843 70323843 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001025265.2 -1 validated p.K182N 0.870 446 0% 256 42.2% 0 - possibly_damaging(0.45) deleterious(0) deleterious(0.592) NULL IL2RG 3561 genome.wustl.edu 37 X 70328128 70328128 + Missense_Mutation SNP G G A rs137852509 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000206.2 -1 reviewed p.S308L 1.000 603 0% 135 43.7% 23 0% probably_damaging(0.982) deleterious(0.03) deleterious(0.791) NULL IL2RG 3561 genome.wustl.edu 37 X 70329108 70329108 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000206.2 -1 reviewed p.P243T 0.001 384 0% 124 51.6% 19 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) PatternScan_HEMATOPO_REC_S_F1,superfamily_FN_III-like IL2RG 3561 genome.wustl.edu 37 X 70330492 70330492 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000206.2 -1 reviewed p.L106I 0.577 797 0% 270 46.3% 15 0% probably_damaging(0.982) tolerated(0.26) neutral(0.461) superfamily_FN_III-like IL2RG 3561 genome.wustl.edu 37 X 70330935 70330935 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000487883 -1 known p.S15 0.004 222 0% 75 34.7% 1 0% - - - NULL MED12 9968 genome.wustl.edu 37 X 70342421 70342421 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005120.2 +1 reviewed p.R438C 1.000 409 0% 93 49.5% 16 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZMYM3 9203 genome.wustl.edu 37 X 70464182 70464182 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005096.3 -1 reviewed p.T1084P 0.935 483 0% 70 31.4% 30 0% benign(0.001) tolerated(0.29) neutral(0.029) NULL ZMYM3 9203 genome.wustl.edu 37 X 70464278 70464278 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005096.3 -1 reviewed p.S1052A 0.999 322 0% 67 28.4% 34 0% possibly_damaging(0.478) tolerated(0.4) neutral(0.174) NULL ITGB1BP2 26548 genome.wustl.edu 37 X 70522402 70522402 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012278.1 +1 provisional p.P105S 1.000 86 0% 71 12.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAF1 6872 genome.wustl.edu 37 X 70587424 70587424 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004606.3 +1 reviewed p.E86* 1.000 158 0% 171 40.9% 6 0% - - - HMMPfam_TBP-binding,superfamily_TAF_II_230 TAF1 6872 genome.wustl.edu 37 X 70602467 70602467 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004606.3 +1 reviewed p.R560Q 1.000 209 0.5% 143 36.4% 6 0% probably_damaging(0.976) tolerated(0.09) deleterious(0.714) NULL TAF1 6872 genome.wustl.edu 37 X 70618511 70618511 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000483985 +1 known p.G147* 1.000 621 0% 239 45.2% 13 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAF1 6872 genome.wustl.edu 37 X 70621538 70621538 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004606.3 +1 reviewed p.L1336R 1.000 482 0% 239 41.4% 6 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAF1 6872 genome.wustl.edu 37 X 70680589 70680589 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004606.3 +1 reviewed p.S1799R 1.000 203 0% 154 43.5% 27 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL OGT 8473 genome.wustl.edu 37 X 70756096 70756096 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_181672.2 +1 reviewed p.D36Y 1.000 209 0% 131 38.2% 7 0% possibly_damaging(0.909) tolerated(0.1) deleterious(0.648) HMMSmart_SM00028,superfamily_TPR-like OGT 8473 genome.wustl.edu 37 X 70767789 70767789 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000455587 +1 known p.R148Q 0.989 398 0% 282 40.8% 11 0% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like ACRC 93953 genome.wustl.edu 37 X 70817887 70817887 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_052957.4 +1 validated p.D103 0.066 310 0% 147 43.5% 1 0% - - - NULL RGAG4 340526 genome.wustl.edu 37 X 71350169 71350169 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024455.3 -1 validated p.E408* 0.154 669 0% 703 35.7% 5 0% - - - NULL ERCC6L 54821 genome.wustl.edu 37 X 71425526 71425526 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017669.2 -1 validated p.E1031K 0.922 553 0% 211 43.6% 11 0% possibly_damaging(0.658) deleterious(0) deleterious(0.677) NULL ERCC6L 54821 genome.wustl.edu 37 X 71426726 71426726 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017669.2 -1 validated p.E631K 0.990 238 0% 107 44.9% 6 100% benign(0.05) tolerated(0.31) neutral(0.030) NULL ERCC6L 54821 genome.wustl.edu 37 X 71426902 71426902 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017669.2 -1 validated p.R572Q 1.000 305 0% 132 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 PHKA1 5255 genome.wustl.edu 37 X 71813024 71813024 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002637.3 -1 reviewed p.R1058I 0.991 306 0% 78 48.7% 8 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PHK_AB PHKA1 5255 genome.wustl.edu 37 X 71838687 71838687 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002637.3 -1 reviewed p.R748C 1.000 239 0% 38 36.8% 0 - benign(0.219) tolerated(0.09) neutral(0.318) HMMPfam_PHK_AB PHKA1 5255 genome.wustl.edu 37 X 71875991 71875991 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002637.3 -1 reviewed p.V340 0.999 439 0% 195 38.5% 0 - - - - HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases PHKA1 5255 genome.wustl.edu 37 X 71876083 71876083 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002637.3 -1 reviewed p.R310C 0.998 320 0.3% 126 48.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases NAP1L2 4674 genome.wustl.edu 37 X 72433253 72433253 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021963.2 -1 reviewed p.R359Q 1.000 133 0% 104 34.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_NAP NAP1L2 4674 genome.wustl.edu 37 X 72433914 72433914 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021963.2 -1 reviewed p.K139Q 1.000 479 0% 231 43.7% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_NAP BMP2KL 347359 genome.wustl.edu 37 X 73405851 73405851 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000373488 +1 known p.E33K 1.000 20 0% 18 38.9% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SLC16A2 6567 genome.wustl.edu 37 X 73641704 73641704 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006517.3 +1 reviewed p.E152K 0.879 22 0% 15 46.7% 0 - benign(0) deleterious(0.03) neutral(0.364) superfamily_MFS_gen_substrate_transporter RLIM 51132 genome.wustl.edu 37 X 73812696 73812696 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016120.3 -1 reviewed p.S152A 0.386 268 0.4% 176 43.8% 11 90.9% benign(0.022) tolerated(0.9) neutral(0.001) NULL ABCB7 22 genome.wustl.edu 37 X 74291397 74291397 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004299.3 -1 reviewed p.F386S 1.000 248 0% 48 37.5% 16 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_ABC_TM_1 ABCB7 22 genome.wustl.edu 37 X 74291498 74291498 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004299.3 -1 reviewed p.Y352 1.000 158 0% 38 47.4% 23 100% - - - HMMPfam_ABC_membrane,superfamily_ABC_TM_1 ABCB7 22 genome.wustl.edu 37 X 74376054 74376054 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004299.3 -1 reviewed p.F18 0.998 41 0% 13 53.8% 9 0% - - - NULL UPRT 139596 genome.wustl.edu 37 X 74519615 74519615 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_145052.3 +1 reviewed p.R203Q 1.000 236 0% 60 38.3% 30 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_PRTase-like ZDHHC15 158866 genome.wustl.edu 37 X 74670692 74670692 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144969.2 -1 reviewed p.Q108H 1.000 411 0% 40 17.5% 1 0% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) NULL ZDHHC15 158866 genome.wustl.edu 37 X 74698783 74698783 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144969.2 -1 reviewed p.F67L 1.000 278 0% 119 37.8% 2 100% benign(0.001) tolerated(0.47) neutral(0.011) NULL ATRX 546 genome.wustl.edu 37 X 76889166 76889166 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000489.3 -1 reviewed p.D1615G 1.000 91 0% 51 51% 8 87.5% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76907711 76907711 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000489.3 -1 reviewed p.L1484I 1.000 1226 0% 415 38.8% 18 0% possibly_damaging(0.744) tolerated(0.44) neutral(0.286) superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76909627 76909627 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000489.3 -1 reviewed p.R1426 0.999 696 0% 297 41.8% 16 100% - - - NULL ATRX 546 genome.wustl.edu 37 X 76920185 76920185 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000489.3 -1 reviewed p.E1298* 0.645 466 0% 393 43.5% 12 0% - - - NULL ATRX 546 genome.wustl.edu 37 X 76937678 76937678 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000489.3 -1 reviewed p.E1024* 0.416 113 0% 108 50.9% 15 0% - - - NULL ATRX 546 genome.wustl.edu 37 X 76938149 76938149 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000489.3 -1 reviewed p.N867H 0.000 314 0% 155 14.8% 10 20% benign(0.01) tolerated(0.16) neutral(0.060) NULL ATRX 546 genome.wustl.edu 37 X 76938341 76938341 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000489.3 -1 reviewed p.I803L 0.003 109 0% 123 41.5% 7 100% benign(0.235) tolerated(0.07) neutral(0.343) NULL PGAM4 441531 genome.wustl.edu 37 X 77224439 77224439 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001029891.2 -1 reviewed p.L233 1.000 92 0% 54 40.7% 1 0% - - - superfamily_SSF53254 TAF9B 51616 genome.wustl.edu 37 X 77387183 77387183 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015975.4 -1 reviewed p.S227L 1.000 882 0% 346 49.7% 21 100% possibly_damaging(0.626) deleterious(0.04) deleterious(0.567) NULL TAF9B 51616 genome.wustl.edu 37 X 77393561 77393561 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015975.4 -1 reviewed p.I56M 1.000 205 0% 105 42.9% 13 100% benign(0.045) tolerated(0.12) neutral(0.263) HMMPfam_TFIID-31kDa,superfamily_Histone-fold TAF9B 51616 genome.wustl.edu 37 X 77394372 77394372 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015975.4 -1 reviewed p.R34M 1.000 305 0% 223 43.9% 10 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_TFIID-31kDa,superfamily_Histone-fold ZCCHC5 203430 genome.wustl.edu 37 X 77913164 77913164 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152694.2 -1 reviewed p.P252S 0.001 61 0% 32 43.8% 0 - benign(0.001) tolerated(0.96) - NULL ITM2A 9452 genome.wustl.edu 37 X 78616601 78616601 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004867.4 -1 reviewed p.K259N 1.000 116 0% 50 40% 2 0% probably_damaging(0.956) tolerated(0.12) deleterious(0.660) NULL ITM2A 9452 genome.wustl.edu 37 X 78616847 78616847 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004867.4 -1 reviewed p.R228C 0.985 165 0% 41 51.2% 7 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TBX22 50945 genome.wustl.edu 37 X 79286242 79286242 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001109878.1 +1 reviewed p.S399R 0.923 305 0% 75 56% 0 - probably_damaging(0.965) tolerated(0.06) deleterious(0.730) NULL FAM46D 169966 genome.wustl.edu 37 X 79698333 79698333 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152630.4 +1 validated p.V99I 0.737 153 0% 24 20.8% 0 - benign(0.002) tolerated(0.27) neutral(0.034) HMMPfam_DUF1693 FAM46D 169966 genome.wustl.edu 37 X 79699041 79699041 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152630.4 +1 validated p.E335* 1.000 167 0% 15 26.7% 0 - - - - NULL BRWD3 254065 genome.wustl.edu 37 X 79932302 79932302 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153252.4 -1 reviewed p.G1739* 1.000 373 0% 53 30.2% 4 0% - - - NULL BRWD3 254065 genome.wustl.edu 37 X 79937997 79937997 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153252.4 -1 reviewed p.S1455N 1.000 588 0% 57 50.9% 8 0% possibly_damaging(0.832) tolerated(0.38) neutral(0.335) NULL BRWD3 254065 genome.wustl.edu 37 X 79942391 79942391 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153252.4 -1 reviewed p.R1326* 1.000 375 0% 64 48.4% 2 100% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain POU3F4 5456 genome.wustl.edu 37 X 82764336 82764336 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000307.3 +1 reviewed p.R335K 1.000 62 0% 14 28.6% 0 - benign(0.383) deleterious(0.02) deleterious(0.506) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like CYLC1 1538 genome.wustl.edu 37 X 83124910 83124910 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021118.1 +1 provisional p.P19S 0.084 36 0.000 9 0.778 0 - probably_damaging(0.991) tolerated(0.15) deleterious(0.685) NULL CYLC1 1538 genome.wustl.edu 37 X 83128546 83128546 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021118.1 +1 provisional p.S277Y 0.848 44 2.3% 17 47.1% 0 - unknown(0) tolerated(0.08) - NULL CYLC1 1538 genome.wustl.edu 37 X 83129150 83129150 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021118.1 +1 provisional p.K478N 0.004 131 0% 35 45.7% 0 - unknown(0) tolerated(0.28) - NULL RPS6KA6 27330 genome.wustl.edu 37 X 83361979 83361979 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014496.4 -1 reviewed p.S394Y 0.523 188 0% 67 44.8% 0 - benign(0.257) deleterious(0.01) neutral(0.432) HMMPfam_Pkinase_C RPS6KA6 27330 genome.wustl.edu 37 X 83374998 83374998 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014496.4 -1 reviewed p.K228N 1.000 154 0% 55 52.7% 1 0% benign(0.012) tolerated(0.14) neutral(0.250) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RPS6KA6 27330 genome.wustl.edu 37 X 83419347 83419347 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014496.4 -1 reviewed p.D44Y 1.000 172 0% 158 24.1% 0 - benign(0) tolerated(0.98) - NULL ZNF711 7552 genome.wustl.edu 37 X 84525067 84525067 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021998.4 +1 reviewed p.Q341H 0.983 128 0% 46 41.3% 7 85.7% probably_damaging(0.982) tolerated(1) neutral(0.426) HMMPfam_Zfx_Zfy_act ZNF711 7552 genome.wustl.edu 37 X 84525757 84525757 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021998.4 +1 reviewed p.K403N 1.000 48 0% 15 40% 5 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 POF1B 79983 genome.wustl.edu 37 X 84561194 84561194 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024921.3 -1 reviewed p.R437I 0.998 266 0% 87 41.4% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL POF1B 79983 genome.wustl.edu 37 X 84634327 84634327 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024921.3 -1 reviewed p.K45Q 1.000 315 0% 49 49% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL TGIF2LX 90316 genome.wustl.edu 37 X 89177721 89177721 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138960.3 +1 reviewed p.D213N 0.453 126 0% 84 13.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PABPC5 140886 genome.wustl.edu 37 X 90690960 90690960 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080832.2 +1 reviewed p.A128 1.000 67 0% 51 45.1% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PABPC5 140886 genome.wustl.edu 37 X 90691409 90691409 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080832.2 +1 reviewed p.I278T 0.998 65 0% 62 53.2% 0 - benign(0.002) tolerated(0.43) neutral(0.013) NULL PCDH11X 27328 genome.wustl.edu 37 X 91542972 91542972 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000504220 +1 known p.L1051F 0.005 410 0% 115 46.1% 0 - benign(0.053) - - NULL PCDH11X 27328 genome.wustl.edu 37 X 91873800 91873800 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032968.3 +1 reviewed p.S1302Y 0.661 357 0% 72 43.1% 0 - possibly_damaging(0.509) deleterious(0) deleterious(0.615) NULL NAP1L3 4675 genome.wustl.edu 37 X 92927595 92927595 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004538.4 -1 reviewed p.D237Y 0.887 240 0% 218 42.2% 1 0% possibly_damaging(0.479) deleterious(0.01) deleterious(0.564) HMMPfam_NAP FAM133A 286499 genome.wustl.edu 37 X 92964553 92964553 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173698.2 +1 validated p.K45N 1.000 42 0% 17 23.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RPA4 29935 genome.wustl.edu 37 X 96139434 96139434 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_013347.4 +1 reviewed p.R42Q 0.000 286 0% 82 50% 1 100% probably_damaging(0.99) tolerated(0.08) deleterious(0.742) NULL DIAPH2 1730 genome.wustl.edu 37 X 96171473 96171473 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006729.4 +1 reviewed p.L257I 1.000 139 0% 22 54.5% 2 0% unknown(0) tolerated(1) - HMMPfam_Drf_GBD DIAPH2 1730 genome.wustl.edu 37 X 96328002 96328002 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006729.4 +1 reviewed p.E705* 1.000 183 0% 178 44.9% 3 66.6% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) PCDH19 57526 genome.wustl.edu 37 X 99662008 99662008 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105243.1 -1 reviewed p.E530K 1.000 45 0% 71 52.1% 8 100% probably_damaging(0.973) deleterious(0.05) deleterious(0.760) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH19 57526 genome.wustl.edu 37 X 99662051 99662051 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001105243.1 -1 reviewed p.I515 1.000 42 0% 63 44.4% 7 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TSPAN6 7105 genome.wustl.edu 37 X 99890195 99890195 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003270.2 -1 reviewed p.G111* 1.000 278 0% 125 38.4% 124 0% - - - HMMPfam_Tetraspannin SRPX2 27286 genome.wustl.edu 37 X 99922394 99922394 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014467.2 +1 reviewed p.S362Y 1.000 256 0% 147 12.9% 1 0% possibly_damaging(0.684) tolerated(0.25) neutral(0.281) NULL SYTL4 94121 genome.wustl.edu 37 X 99942166 99942166 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001129896.2 -1 reviewed p.A361D 0.975 165 0% 43 41.9% 3 0% benign(0.039) deleterious(0.04) neutral(0.351) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) XKRX 402415 genome.wustl.edu 37 X 100169570 100169570 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_212559.2 -1 reviewed p.F382 1.000 151 0% 46 32.6% 0 - - - - NULL ARL13A 392509 genome.wustl.edu 37 X 100240748 100240748 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012990.3 +1 validated p.D75Y 0.976 194 0% 125 46.4% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) superfamily_SSF52540 ARL13A 392509 genome.wustl.edu 37 X 100241886 100241886 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012990.3 +1 validated p.R161Q 0.770 97 1% 100 14% 0 - possibly_damaging(0.909) tolerated(0.3) neutral(0.391) HMMPfam_Arf,superfamily_SSF52540 ARL13A 392509 genome.wustl.edu 37 X 100243396 100243396 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012990.3 +1 validated p.K258N 0.915 153 0% 143 32.9% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CENPI 2491 genome.wustl.edu 37 X 100400134 100400134 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006733.2 +1 reviewed p.R549 0.975 546 0% 213 46.5% 5 0% - - - NULL DRP2 1821 genome.wustl.edu 37 X 100486731 100486731 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001939.2 +1 reviewed p.R32Q 0.765 116 0% 35 40% 0 - benign(0.023) tolerated(0.12) neutral(0.262) NULL DRP2 1821 genome.wustl.edu 37 X 100502118 100502118 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001939.2 +1 reviewed p.A406V 1.000 475 0% 106 50.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_efhand_1,superfamily_SSF47473 DRP2 1821 genome.wustl.edu 37 X 100509892 100509892 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001939.2 +1 reviewed p.R720Q 1.000 206 0% 66 53% 0 - possibly_damaging(0.938) deleterious(0.04) deleterious(0.732) NULL TAF7L 54457 genome.wustl.edu 37 X 100547862 100547862 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024885.3 -1 reviewed p.P58T 0.000 73 1.4% 112 50% 0 - possibly_damaging(0.494) deleterious(0) deleterious(0.609) NULL BTK 695 genome.wustl.edu 37 X 100617570 100617570 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000061.2 -1 reviewed p.I167V 1.000 160 0% 93 39.8% 0 - unknown(0) tolerated(0.56) - HMMPfam_BTK,HMMSmart_BTK,superfamily_SSF50729 GLA 2717 genome.wustl.edu 37 X 100652899 100652899 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000169.2 -1 reviewed p.F396L 0.024 143 0% 87 41.4% 34 0% benign(0) tolerated(0.43) neutral(0.013) superfamily_Glycosyl hydrolase domain HNRNPH2 3188 genome.wustl.edu 37 X 100667200 100667200 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001032393.1 +1 reviewed p.R75K 1.000 281 0% 184 38% 98 0% benign(0.082) tolerated(0.35) neutral(0.027) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ARMCX1 51309 genome.wustl.edu 37 X 100808676 100808676 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016608.1 +1 reviewed p.L255 0.998 182 0% 69 15.9% 6 0% - - - HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX1 51309 genome.wustl.edu 37 X 100809149 100809149 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016608.1 +1 reviewed p.F412L 1.000 219 0% 194 50% 7 57.1% possibly_damaging(0.639) deleterious(0.01) deleterious(0.629) HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX3 51566 genome.wustl.edu 37 X 100880877 100880877 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016607.3 +1 reviewed p.L303R 1.000 97 0% 79 35.4% 36 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX2 9823 genome.wustl.edu 37 X 100911659 100911659 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014782.5 -1 reviewed p.E306K 0.129 321 0.3% 111 36.9% 47 82.9% possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) NULL NXF5 55998 genome.wustl.edu 37 X 101095494 101095494 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032946.2 -1 reviewed p.F225L 0.025 656 0% 175 49.1% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_L domain-like ZMAT1 84460 genome.wustl.edu 37 X 101138493 101138493 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001011657.2 -1 reviewed p.L636I 1.000 89 0% 60 30% 1 100% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ZMAT1 84460 genome.wustl.edu 37 X 101138740 101138740 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001011657.2 -1 reviewed p.E553D 0.998 616 0% 222 42.3% 0 - probably_damaging(0.973) tolerated(0.16) deleterious(0.474) NULL ZMAT1 84460 genome.wustl.edu 37 X 101139558 101139558 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001011657.2 -1 reviewed p.A281T 0.000 276 0% 70 41.4% 3 0% benign(0) deleterious(0.01) neutral(0.406) NULL ZMAT1 84460 genome.wustl.edu 37 X 101152904 101152904 + Nonsense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001011657.2 -1 reviewed p.K148* 0.975 315 0% 60 46.7% 0 - - - - HMMSmart_SM00451,HMMPfam_zf-U1,superfamily_C2H2 and C2HC zinc fingers BEX5 340542 genome.wustl.edu 37 X 101409072 101409072 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001012978.2 -1 validated p.D56N 0.317 623 0% 257 45.1% 64 0% benign(0) tolerated(1) - HMMPfam_BEX NXF2B 728343 genome.wustl.edu 37 X 101615528 101615528 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099686.1 -1 provisional p.I625 0.000 583 0% 258 43.8% 0 - - - - NULL GPRASP1 9737 genome.wustl.edu 37 X 101909731 101909731 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099410.1 +1 reviewed p.S297Y 0.990 119 0% 107 43% 0 - possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) NULL GPRASP1 9737 genome.wustl.edu 37 X 101910148 101910148 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099410.1 +1 reviewed p.G436V 0.006 78 0% 37 37.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPRASP2 114928 genome.wustl.edu 37 X 101972171 101972171 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004051.2 +1 reviewed p.K792Q 0.550 49 0% 78 33.3% 4 0% benign(0.226) tolerated(0.13) neutral(0.275) HMMPfam_DUF634,superfamily_ARM-type_fold BHLHB9 80823 genome.wustl.edu 37 X 102005452 102005452 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001142524.1 +1 validated p.F510S 1.000 235 0% 114 43% 4 100% possibly_damaging(0.839) deleterious(0) deleterious(0.765) HMMPfam_DUF634,superfamily_ARM-type_fold NXF3 56000 genome.wustl.edu 37 X 102334536 102334536 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022052.1 -1 reviewed p.N399D 1.000 197 0.5% 310 43.2% 0 - probably_damaging(0.996) tolerated(0.24) deleterious(0.499) HMMPfam_NTF2,superfamily_NTF2-like WBP5 51186 genome.wustl.edu 37 X 102612899 102612899 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001006612.1 +1 reviewed p.R96Q 1.000 204 0% 156 12.2% 359 0% probably_damaging(0.975) tolerated(0.07) deleterious(0.736) HMMPfam_TFA GLRA4 441509 genome.wustl.edu 37 X 102968474 102968474 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024452.2 -1 validated p.R353* 1.000 393 0% 72 38.9% 0 - - - - superfamily_Neurotransmitter-gated ion-channel transmembrane pore TMEM31 203562 genome.wustl.edu 37 X 102968809 102968809 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182541.2 +1 validated p.L130 0.045 447 0.2% 118 40.7% 1 0% - - - NULL TMEM31 203562 genome.wustl.edu 37 X 102968903 102968903 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182541.2 +1 validated p.V162I 0.012 258 0% 84 44% 0 - unknown(0) - - NULL GLRA4 441509 genome.wustl.edu 37 X 102979101 102979101 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001024452.2 -1 validated p.F133L 1.000 302 0% 95 51.6% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like LOC100287881 100287881 genome.wustl.edu 37 X 102983205 102983205 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343835.1 +1 model p.K174N 0.002 208 0% 41 51.2% 0 - - - - NULL ZCCHC18 644353 genome.wustl.edu 37 X 103359337 103359337 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001143978.1 +1 provisional p.L179I 0.280 168 0% 66 16.7% 0 - - - - NULL IL1RAPL2 26280 genome.wustl.edu 37 X 104512093 104512093 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017416.1 +1 reviewed p.R189I 1.000 144 0% 46 21.7% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IL1RAPL2 26280 genome.wustl.edu 37 X 105011355 105011355 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017416.1 +1 reviewed p.A588T 1.000 119 0% 29 34.5% 0 - possibly_damaging(0.773) deleterious(0.02) deleterious(0.670) NULL IL1RAPL2 26280 genome.wustl.edu 37 X 105011602 105011602 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017416.1 +1 reviewed p.S670Y 0.988 150 0% 40 37.5% 0 - benign(0.113) deleterious(0) neutral(0.454) NULL NRK 203447 genome.wustl.edu 37 X 105187944 105187944 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198465.2 +1 validated p.E1324* 1.000 307 0.3% 170 48.8% 0 - - - - HMMPfam_CNH,HMMSmart_SM00036 NRK 203447 genome.wustl.edu 37 X 105193673 105193673 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_198465.2 +1 validated p.E1487A 1.000 135 0% 46 15.2% 0 - possibly_damaging(0.95) tolerated(0.32) neutral(0.418) HMMPfam_CNH,HMMSmart_SM00036 MUM1L1 139221 genome.wustl.edu 37 X 105451330 105451330 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000337685 +1 known p.F635 1.000 43 0% 25 20% 0 - - - - NULL LOC644504 644504 genome.wustl.edu 37 X 105570813 105570813 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_001128075.2 +1 model p.R64Q 1.000 104 0% 65 38.5% 0 - - - - HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases CXorf57 55086 genome.wustl.edu 37 X 105876195 105876195 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018015.5 +1 validated p.I374 0.988 157 0% 114 45.6% 1 0% - - - NULL RNF128 79589 genome.wustl.edu 37 X 106016375 106016375 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194463.1 +1 reviewed p.A239 1.000 329 0% 148 48.6% 0 - - - - NULL RIPPLY1 92129 genome.wustl.edu 37 X 106144110 106144110 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138382.2 -1 validated p.D109N 1.000 690 0% 214 45.3% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL RIPPLY1 92129 genome.wustl.edu 37 X 106146367 106146367 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138382.2 -1 validated p.E51* 0.001 184 0% 41 41.5% 0 - - - - NULL MORC4 79710 genome.wustl.edu 37 X 106186071 106186071 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024657.4 -1 reviewed p.E684* 0.984 446 0% 59 45.8% 52 0% - - - NULL NUP62CL 54830 genome.wustl.edu 37 X 106396685 106396685 + Silent SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000432145 -1 known p.K63T 0.991 119 0% 124 46% 2 100% - - - HMMPfam_Nsp1_C NUP62CL 54830 genome.wustl.edu 37 X 106418351 106418351 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017681.2 -1 validated p.S9Y 0.000 273 0% 100 44% 0 - benign(0.007) deleterious(0.01) neutral(0.406) NULL PRPS1 5631 genome.wustl.edu 37 X 106884314 106884314 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000372419 +1 known p.I163M 0.001 159 0% 89 42.7% 0 - unknown(0) - - NULL COL4A6 1288 genome.wustl.edu 37 X 107420147 107420147 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001847.2 -1 reviewed p.N871 0.000 178 0% 113 50.4% 1 100% - - - HMMPfam_Collagen ENSG00000189372 0 genome.wustl.edu 37 X 107627034 107627034 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000453808 +1 known p.K96N 0.984 89 0% 42 50% 0 - possibly_damaging(0.777) tolerated(0.07) deleterious(0.609) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) COL4A5 1287 genome.wustl.edu 37 X 107807157 107807157 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033380.1 +1 reviewed e4+1 1.000 125 0% 43 39.5% 0 - - - - - COL4A5 1287 genome.wustl.edu 37 X 107840790 107840790 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033380.1 +1 reviewed p.G591* 1.000 97 0% 30 50% 3 100% - - - HMMPfam_Collagen COL4A5 1287 genome.wustl.edu 37 X 107841942 107841942 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033380.1 +1 reviewed p.T597N 0.010 69 1.4% 24 45.8% 3 0% unknown(0) deleterious(0.04) - HMMPfam_Collagen IRS4 8471 genome.wustl.edu 37 X 107975806 107975806 + Missense_Mutation SNP G G A rs28473027 byCluster;byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003604.2 -1 reviewed p.R1257W 0.789 63 0% 106 37.7% 0 - probably_damaging(0.999) - - NULL GUCY2F 2986 genome.wustl.edu 37 X 108652346 108652346 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001522.2 -1 reviewed p.D615Y 1.000 200 0% 98 43.9% 0 - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) GUCY2F 2986 genome.wustl.edu 37 X 108673606 108673606 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001522.2 -1 reviewed p.K574T 1.000 413 0% 118 45.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) GUCY2F 2986 genome.wustl.edu 37 X 108708626 108708626 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001522.2 -1 reviewed p.Q259H 0.500 190 0% 60 51.7% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ACSL4 2182 genome.wustl.edu 37 X 108926119 108926119 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_022977.2 -1 reviewed p.L120I 1.000 109 0% 45 37.8% 9 0% possibly_damaging(0.664) tolerated(0.05) deleterious(0.581) superfamily_Acetyl-CoA synthetase-like PAK3 5063 genome.wustl.edu 37 X 110435827 110435827 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001128168.1 +1 reviewed p.I361L 1.000 100 0% 55 49.1% 0 - benign(0.167) deleterious(0) neutral(0.460) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CAPN6 827 genome.wustl.edu 37 X 110494891 110494891 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014289.3 -1 reviewed p.R260H 1.000 378 0% 83 51.8% 111 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 DCX 1641 genome.wustl.edu 37 X 110574140 110574140 + Splice_Site SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000371988 -1 known e4+1 1.000 742 0% 79 38% 0 - benign(0) tolerated(0.14) neutral(0.249) - ALG13 79868 genome.wustl.edu 37 X 110967048 110967048 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000394780 +1 known p.R508I 0.984 121 0% 76 34.2% 2 0% possibly_damaging(0.722) deleterious(0) deleterious(0.707) superfamily_SSF63748 ALG13 79868 genome.wustl.edu 37 X 110970087 110970087 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000394780 +1 known p.R594* 1.000 240 0% 59 11.9% 2 0% - - - NULL ALG13 79868 genome.wustl.edu 37 X 111000888 111000888 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000394780 +1 known p.Y1016D 0.940 207 0% 34 50% 2 0% possibly_damaging(0.55) deleterious(0.05) deleterious(0.532) NULL TRPC5 7224 genome.wustl.edu 37 X 111019653 111019653 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012471.2 -1 reviewed p.S937Y 1.000 133 0% 25 32% 0 - possibly_damaging(0.437) deleterious(0.01) deleterious(0.548) NULL TRPC5 7224 genome.wustl.edu 37 X 111019934 111019934 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012471.2 -1 reviewed p.K843N 1.000 156 0% 51 56.9% 0 - benign(0.18) deleterious(0.01) neutral(0.422) NULL TRPC5 7224 genome.wustl.edu 37 X 111078341 111078341 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012471.2 -1 reviewed p.L568 0.923 150 0% 85 49.4% 0 - - - - HMMPfam_Ion_trans TRPC5 7224 genome.wustl.edu 37 X 111090422 111090422 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012471.2 -1 reviewed p.F540L 1.000 238 0% 59 42.4% 0 - probably_damaging(0.989) tolerated(0.07) deleterious(0.758) HMMPfam_Ion_trans TRPC5 7224 genome.wustl.edu 37 X 111090573 111090573 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012471.2 -1 reviewed p.S490L 1.000 239 0.4% 65 56.9% 0 - probably_damaging(0.989) tolerated(0.32) neutral(0.464) HMMPfam_Ion_trans ZCCHC16 340595 genome.wustl.edu 37 X 111698250 111698250 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004308.2 +1 validated p.L98 0.000 359 0% 65 50.8% 0 - - - - NULL AMOT 154796 genome.wustl.edu 37 X 112022362 112022362 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113490.1 -1 reviewed p.A1007V 0.994 122 0% 58 43.1% 3 0% unknown(0) deleterious(0.01) - NULL AMOT 154796 genome.wustl.edu 37 X 112022766 112022766 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113490.1 -1 reviewed p.S872 0.001 266 0% 59 49.2% 5 100% - - - NULL AMOT 154796 genome.wustl.edu 37 X 112053212 112053212 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001113490.1 -1 reviewed p.R514C 1.000 287 0% 85 37.6% 4 100% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL LOC286528 286528 genome.wustl.edu 37 X 113625595 113625595 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_210501.3 +1 model p.E157K 1.000 24 0% 23 60.9% 0 - - - - HMMPfam_Ssu72 HTR2C 3358 genome.wustl.edu 37 X 114082758 114082758 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000868.2 +1 reviewed p.I181S 1.000 260 0% 71 45.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_SSF81321 HTR2C 3358 genome.wustl.edu 37 X 114141552 114141552 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000868.2 +1 reviewed p.F317L 1.000 245 0% 137 46% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_7tm_1,superfamily_SSF81321 LRCH2 57631 genome.wustl.edu 37 X 114414287 114414287 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020871.3 -1 validated p.L217I 1.000 62 0% 94 11.7% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) superfamily_SSF52058 RBMXL3 139804 genome.wustl.edu 37 X 114425900 114425900 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001145346.1 +1 validated p.E632D 0.570 59 0% 35 17.1% 0 - benign(0.181) deleterious(0) neutral(0.461) NULL LUZP4 51213 genome.wustl.edu 37 X 114536567 114536567 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016383.3 +1 validated p.I34 0.508 88 0% 102 39.2% 0 - - - - NULL PLS3 5358 genome.wustl.edu 37 X 114879419 114879419 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136025.3 +1 reviewed p.A421V 1.000 179 0% 130 45.4% 109 0% benign(0) tolerated(0.08) neutral(0.300) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain AGTR2 186 genome.wustl.edu 37 X 115303666 115303666 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000686.4 +1 reviewed p.D45Y 0.891 393 0% 74 44.6% 0 - benign(0.057) deleterious(0.04) neutral(0.352) superfamily_Family A G protein-coupled receptor-like AGTR2 186 genome.wustl.edu 37 X 115304404 115304404 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000686.4 +1 reviewed p.E291K 0.549 559 0% 53 50.9% 0 - benign(0.002) tolerated(0.84) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AGTR2 186 genome.wustl.edu 37 X 115304504 115304504 + Missense_Mutation SNP G G T rs35474657 byCluster;byFrequency;by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000686.4 +1 reviewed p.R324L 0.456 456 0% 48 45.8% 1 0% possibly_damaging(0.477) tolerated(0.12) neutral(0.418) superfamily_Family A G protein-coupled receptor-like KLHL13 90293 genome.wustl.edu 37 X 117035910 117035910 + Splice_Site SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033495.3 -1 reviewed e6-1 1.000 196 0% 45 48.9% 0 - - - - - KLHL13 90293 genome.wustl.edu 37 X 117043465 117043465 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_033495.3 -1 reviewed p.N389H 1.000 242 0% 55 49.1% 21 0% possibly_damaging(0.934) deleterious(0.01) deleterious(0.786) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain DOCK11 139818 genome.wustl.edu 37 X 117727245 117727245 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144658.3 +1 validated p.S736 0.999 183 0% 75 49.3% 1 0% - - - NULL LOC727838 727838 genome.wustl.edu 37 X 118208996 118208996 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343842.1 +1 model p.E279D 0.000 1393 0% 645 45.9% 0 - - - - NULL ENSG00000248857 0 genome.wustl.edu 37 X 118221101 118221101 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000440399 -1 known p.P771S 0.000 119 0% 41 48.8% 0 - - - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118222926 118222926 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020721.1 -1 validated p.D756G 0.000 47 0% 25 48% 0 - benign(0) tolerated(0.56) neutral(0.006) NULL KIAA1210 57481 genome.wustl.edu 37 X 118250484 118250484 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_020721.1 -1 validated p.R209W 0.000 694 0% 242 45% 0 - probably_damaging(0.985) - - NULL SEPT6 23157 genome.wustl.edu 37 X 118784027 118784027 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_015129.5 -1 reviewed p.A188V 1.000 359 0% 148 42.6% 22 0% benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases UPF3B 65109 genome.wustl.edu 37 X 118977168 118977168 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_080632.1 -1 reviewed p.N189T 1.000 555 0% 702 44.6% 21 0% benign(0.001) tolerated(0.89) - HMMPfam_Smg4_UPF3 NKAP 79576 genome.wustl.edu 37 X 119059227 119059227 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024528.3 -1 reviewed p.R402 1.000 203 0% 264 50.8% 23 100% - - - HMMPfam_DUF926 NKAP 79576 genome.wustl.edu 37 X 119064012 119064012 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024528.3 -1 reviewed p.F347C 1.000 128 0% 173 44.5% 27 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF926 NKAP 79576 genome.wustl.edu 37 X 119072771 119072771 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024528.3 -1 reviewed p.R130I 1.000 129 0% 131 45.8% 11 0% unknown(0) deleterious(0) - NULL ZBTB33 10009 genome.wustl.edu 37 X 119388442 119388442 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006777.3 +1 reviewed p.I391S 1.000 67 0% 77 32.5% 10 70% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZBTB33 10009 genome.wustl.edu 37 X 119388971 119388971 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006777.3 +1 reviewed p.S567 0.998 199 0% 109 52.3% 18 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CUL4B 8450 genome.wustl.edu 37 X 119664026 119664026 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003588.3 -1 reviewed p.K859N 1.000 561 0% 195 37.9% 69 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Cullin_Nedd8,superfamily_""Winged helix"" DNA-binding domain" CUL4B 8450 genome.wustl.edu 37 X 119694054 119694054 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003588.3 -1 reviewed p.S165Y 1.000 83 0% 159 39.6% 10 0% benign(0.326) tolerated(0.09) neutral(0.398) NULL MRRFP1 286423 genome.wustl.edu 37 X 122251564 122251564 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000435941 -1 known p.R16C 0.022 297 0% 47 48.9% 0 - benign(0.007) tolerated(0.19) neutral(0.050) NULL GRIA3 2892 genome.wustl.edu 37 X 122387201 122387201 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000264357 +1 known p.D106Y 1.000 451 0% 90 43.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIA3 2892 genome.wustl.edu 37 X 122528965 122528965 + Missense_Mutation SNP G G T rs144807672 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000264357 +1 known p.K299N 1.000 178 0% 53 49.1% 0 - benign(0.157) tolerated(0.18) neutral(0.070) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIA3 2892 genome.wustl.edu 37 X 122536913 122536913 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000828.4 +1 reviewed p.S383L 0.159 195 0% 59 49.2% 0 - - - - NULL GRIA3 2892 genome.wustl.edu 37 X 122561851 122561851 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000264357 +1 known p.S646Y 1.000 264 0% 71 43.7% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II THOC2 57187 genome.wustl.edu 37 X 122765613 122765613 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081550.1 -1 validated p.L803I 1.000 184 0% 50 28% 15 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL THOC2 57187 genome.wustl.edu 37 X 122766757 122766757 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081550.1 -1 validated p.E757D 1.000 358 0% 137 35% 12 0% benign(0.108) tolerated(0.11) neutral(0.280) NULL THOC2 57187 genome.wustl.edu 37 X 122820468 122820468 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081550.1 -1 validated p.E233G 1.000 187 0% 130 56.2% 10 100% benign(0.062) tolerated(0.05) neutral(0.349) NULL XIAP 331 genome.wustl.edu 37 X 123019538 123019538 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001167.2 +1 reviewed p.S9Y 0.993 48 0% 83 42.2% 3 0% benign(0.313) deleterious(0) deleterious(0.542) NULL STAG2 10735 genome.wustl.edu 37 X 123179151 123179151 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001042749.1 +1 validated p.V200 1.000 187 0% 105 16.2% 21 0% - - - HMMPfam_STAG,superfamily_ARM-type_fold ODZ1 10178 genome.wustl.edu 37 X 123514984 123514984 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014253.3 -1 reviewed p.K2527T 0.999 170 0% 25 64% 0 - possibly_damaging(0.943) tolerated(0.24) neutral(0.425) NULL ODZ1 10178 genome.wustl.edu 37 X 123526178 123526178 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014253.3 -1 reviewed p.L1797 0.989 375 0% 120 48.3% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123538944 123538944 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014253.3 -1 reviewed p.I1769 0.011 365 0% 120 39.2% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123556299 123556299 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014253.3 -1 reviewed p.L1425I 1.000 134 0% 39 41% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_N2O_reductase_N,superfamily_SSF101898 ODZ1 10178 genome.wustl.edu 37 X 123663721 123663721 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014253.3 -1 reviewed p.D922Y 1.000 237 0% 38 21.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ODZ1 10178 genome.wustl.edu 37 X 123785783 123785783 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014253.3 -1 reviewed p.F520 0.945 353 0% 77 40.3% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123838997 123838997 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014253.3 -1 reviewed p.P294L 1.000 173 0% 32 25% 0 - benign(0.032) tolerated(0.53) neutral(0.009) HMMPfam_Ten_N ACTRT1 139741 genome.wustl.edu 37 X 127185928 127185928 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138289.3 -1 reviewed p.E86D 0.963 379 0% 65 43.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 SMARCA1 6594 genome.wustl.edu 37 X 128621065 128621065 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003069.3 -1 reviewed p.R716I 1.000 143 0% 151 38.4% 73 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_P-loop containing nucleoside triphosphate hydrolases OCRL 4952 genome.wustl.edu 37 X 128692647 128692647 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000276.3 +1 reviewed p.N159K 1.000 364 0% 144 40.3% 11 0% benign(0) tolerated(0.67) neutral(0.003) NULL OCRL 4952 genome.wustl.edu 37 X 128692693 128692693 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000276.3 +1 reviewed p.R175W 0.969 274 0% 121 49.6% 7 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL OCRL 4952 genome.wustl.edu 37 X 128696671 128696671 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000276.3 +1 reviewed p.E384D 1.000 468 0% 118 35.6% 17 0% possibly_damaging(0.583) tolerated(0.06) deleterious(0.523) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like OCRL 4952 genome.wustl.edu 37 X 128723882 128723882 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000276.3 +1 reviewed p.R844* 1.000 315 0% 101 14.9% 12 8.3% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP XPNPEP2 7512 genome.wustl.edu 37 X 128879181 128879181 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_003399.5 +1 reviewed p.N79 0.714 416 0.2% 143 49% 0 - - - - superfamily_SSF53092 ZDHHC9 51114 genome.wustl.edu 37 X 128948665 128948665 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001008222.2 -1 reviewed p.V198 1.000 375 0% 193 48.2% 46 97.8% - - - NULL UTP14A 10813 genome.wustl.edu 37 X 129055510 129055510 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006649.3 +1 reviewed p.K432T 0.002 81 0% 118 39.8% 34 0% possibly_damaging(0.767) deleterious(0.04) deleterious(0.633) HMMPfam_Utp14 UTP14A 10813 genome.wustl.edu 37 X 129058980 129058980 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_006649.3 +1 reviewed p.E520* 0.034 83 0% 122 37.7% 25 0% - - - HMMPfam_Utp14 BCORL1 63035 genome.wustl.edu 37 X 129139268 129139268 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_021946.3 +1 reviewed p.R21C 1.000 138 0% 43 32.6% 7 14.2% unknown(0) deleterious(0) - NULL AIFM1 9131 genome.wustl.edu 37 X 129270076 129270076 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004208.3 -1 reviewed p.D417Y 1.000 153 0% 47 44.7% 153 0% benign(0.395) deleterious(0.04) deleterious(0.476) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain ZNF280C 55609 genome.wustl.edu 37 X 129370577 129370577 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017666.4 -1 validated p.S177Y 0.003 239 0% 178 43.3% 3 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ENOX2 10495 genome.wustl.edu 37 X 129813519 129813519 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182314.1 -1 reviewed p.S182P 1.000 223 0% 58 41.4% 10 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ENOX2 10495 genome.wustl.edu 37 X 129837098 129837098 + Silent SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_182314.1 -1 reviewed p.L60 1.000 166 0% 33 39.4% 5 0% - - - NULL ARHGAP36 158763 genome.wustl.edu 37 X 130218321 130218321 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_144967.3 +1 validated p.P230S 1.000 197 0% 65 41.5% 0 - probably_damaging(0.98) deleterious(0.04) deleterious(0.773) superfamily_GTPase activation domain GAP IGSF1 3547 genome.wustl.edu 37 X 130415776 130415776 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001555.4 -1 reviewed p.F463L 0.104 343 0% 108 47.2% 0 - possibly_damaging(0.882) tolerated(0.83) neutral(0.345) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IGSF1 3547 genome.wustl.edu 37 X 130416550 130416550 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001555.4 -1 reviewed p.D372N 0.000 358 0% 140 42.9% 0 - benign(0.079) tolerated(0.46) neutral(0.018) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin OR13H1 347468 genome.wustl.edu 37 X 130678421 130678421 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004486.1 +1 provisional p.A125V 0.996 852 0% 73 41.1% 0 - possibly_damaging(0.876) deleterious(0) deleterious(0.786) HMMPfam_7tm_1,superfamily_SSF81321 OR13H1 347468 genome.wustl.edu 37 X 130678858 130678858 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001004486.1 +1 provisional p.K271E 0.999 356 0% 57 15.8% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_7tm_1,superfamily_SSF81321 MST4 51765 genome.wustl.edu 37 X 131188717 131188717 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016542.3 +1 reviewed p.S34* 1.000 138 0% 26 50% 4 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase MST4 51765 genome.wustl.edu 37 X 131188891 131188891 + Splice_Site SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016542.3 +1 reviewed e2+2 1.000 89 0% 20 35% 0 - - - - - FRMD7 90167 genome.wustl.edu 37 X 131218570 131218570 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_194277.2 -1 reviewed p.K230T 1.000 178 0% 102 12.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_C,superfamily_SSF50729 ENSG00000206900 0 genome.wustl.edu 37 X 131714206 131714206 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000384173 -1 novel NULL 0.001 169 0% 56 39.3% 0 - - - - - HS6ST2 90161 genome.wustl.edu 37 X 131762882 131762882 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001077188.1 -1 reviewed p.D436G 1.000 189 0% 33 75.8% 3 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_HS6ST USP26 83844 genome.wustl.edu 37 X 132159805 132159805 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_031907.1 -1 reviewed p.R815I 0.000 463 0% 125 12% 0 - benign(0.179) deleterious(0.01) neutral(0.422) HMMPfam_UCH,superfamily_Cysteine proteinases TFDP3 51270 genome.wustl.edu 37 X 132351297 132351297 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016521.2 -1 reviewed p.E331* 0.998 234 0% 93 12.9% 0 - - - - HMMPfam_DP TFDP3 51270 genome.wustl.edu 37 X 132351446 132351446 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_016521.2 -1 reviewed p.K281T 1.000 265 0.4% 156 53.8% 0 - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_DP GPC4 2239 genome.wustl.edu 37 X 132437269 132437269 + Missense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001448.2 -1 reviewed p.I465F 1.000 235 0% 110 12.7% 64 0% possibly_damaging(0.532) deleterious(0.01) deleterious(0.586) HMMPfam_Glypican GPC4 2239 genome.wustl.edu 37 X 132458453 132458453 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001448.2 -1 reviewed p.V144A 0.008 90 0% 52 50% 28 85.7% benign(0) tolerated(0.74) neutral(0.002) HMMPfam_Glypican GPC3 2719 genome.wustl.edu 37 X 132670253 132670253 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004484.3 -1 reviewed p.E548K 0.680 704 0% 114 49.1% 9 0% benign(0.105) deleterious(0) neutral(0.453) HMMPfam_Glypican GPC3 2719 genome.wustl.edu 37 X 132826499 132826499 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004484.3 -1 reviewed p.S397Y 1.000 110 0% 38 26.3% 4 0% possibly_damaging(0.928) tolerated(0.08) deleterious(0.675) HMMPfam_Glypican FAM122C 159091 genome.wustl.edu 37 X 133981412 133981412 + Splice_Site SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138819.3 +1 validated e6-1 0.555 98 0% 138 37% 0 - - - - - MOSPD1 56180 genome.wustl.edu 37 X 134033118 134033118 + Splice_Site SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_019556.1 -1 provisional e2+2 1.000 71 0% 97 45.4% 0 - - - - - ENSG00000184785 0 genome.wustl.edu 37 X 134125311 134125311 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000330288 +1 known p.K140N 0.001 83 0% 31 41.9% 1 0% benign(0.012) tolerated(0.17) neutral(0.059) NULL FAM127A 8933 genome.wustl.edu 37 X 134166537 134166537 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001078171.1 +1 validated p.E42K 1.000 151 0% 36 13.9% 195 0% probably_damaging(0.999) tolerated(0.23) deleterious(0.532) NULL ZNF449 203523 genome.wustl.edu 37 X 134481500 134481500 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000370761 +1 known p.D153Y 0.000 28 0% 22 50% 0 - possibly_damaging(0.741) tolerated(0.09) deleterious(0.568) NULL ZNF449 203523 genome.wustl.edu 37 X 134494640 134494640 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_152695.5 +1 reviewed p.R399I 1.000 80 0% 30 36.7% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC644717 644717 genome.wustl.edu 37 X 134807871 134807871 + Missense_Mutation SNP C C A rs142172791 by1000genomes TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343850.1 -1 model p.R552I 0.997 20 0% 49 40.8% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134808474 134808474 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab XM_002343850.1 -1 model p.S474Y 0.044 59 0% 47 44.7% 0 - - - - NULL SAGE1 55511 genome.wustl.edu 37 X 134992248 134992248 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018666.2 +1 reviewed p.D595N 0.000 205 0% 117 48.7% 0 - benign(0) deleterious(0) neutral(0.445) NULL SAGE1 55511 genome.wustl.edu 37 X 134995028 134995028 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018666.2 +1 reviewed p.R896I 0.000 77 0% 90 47.8% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL MAP7D3 79649 genome.wustl.edu 37 X 135304594 135304594 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024597.3 -1 reviewed p.E749K 0.025 272 0% 173 42.2% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL GPR112 139378 genome.wustl.edu 37 X 135405539 135405539 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153834.3 +1 reviewed p.T225A 0.001 136 0% 45 42.2% 0 - benign(0.012) deleterious(0.01) neutral(0.406) superfamily_ConA_like_lec_gl GPR112 139378 genome.wustl.edu 37 X 135428664 135428664 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153834.3 +1 reviewed p.F933L 0.080 167 0% 13 53.8% 0 - benign(0.002) deleterious(0.03) neutral(0.364) NULL GPR112 139378 genome.wustl.edu 37 X 135428994 135428994 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153834.3 +1 reviewed p.F1043L 0.008 991 0% 33 48.5% 0 - possibly_damaging(0.574) deleterious(0) deleterious(0.641) NULL GPR112 139378 genome.wustl.edu 37 X 135429708 135429708 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153834.3 +1 reviewed p.K1281N 0.000 241 0% 31 29% 0 - possibly_damaging(0.63) deleterious(0.04) deleterious(0.569) NULL GPR112 139378 genome.wustl.edu 37 X 135435503 135435503 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153834.3 +1 reviewed p.S2277Y 0.653 461 0% 177 45.2% 0 - possibly_damaging(0.49) - - NULL GPR112 139378 genome.wustl.edu 37 X 135453580 135453580 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_153834.3 +1 reviewed p.I2497R 0.954 293 0% 74 16.2% 0 - possibly_damaging(0.931) deleterious(0) deleterious(0.822) NULL BRS3 680 genome.wustl.edu 37 X 135572510 135572510 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001727.1 +1 validated p.S218Y 1.000 75 0% 79 49.4% 0 - possibly_damaging(0.455) deleterious(0.02) deleterious(0.532) HMMPfam_7tm_1,superfamily_SSF81321 HTATSF1 27336 genome.wustl.edu 37 X 135581922 135581922 + Silent SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014500.4 +1 reviewed p.R118 1.000 56 0% 102 43.1% 58 0% - - - NULL HTATSF1 27336 genome.wustl.edu 37 X 135586595 135586595 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_014500.4 +1 reviewed p.K269N 1.000 144 0% 56 44.6% 77 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_RRM,superfamily_SSF54928 CD40LG 959 genome.wustl.edu 37 X 135736565 135736565 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000074.2 +1 reviewed p.E108* 0.983 359 0% 96 45.8% 0 - - - - NULL ARHGEF6 9459 genome.wustl.edu 37 X 135751652 135751652 + Nonsense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004840.2 -1 reviewed p.E727* 1.000 444 0% 186 41.4% 2 0% - - - NULL ARHGEF6 9459 genome.wustl.edu 37 X 135790903 135790903 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004840.2 -1 reviewed p.L285S 0.972 227 0.4% 88 11.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF6 9459 genome.wustl.edu 37 X 135795435 135795435 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004840.2 -1 reviewed p.N276T 1.000 297 0% 251 45.8% 0 - benign(0.01) tolerated(0.16) neutral(0.060) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) SNORD61 26787 genome.wustl.edu 37 X 135961422 135961422 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_002735.1 -1 validated NULL 1.000 78 0% 182 39% 0 - - - - - FGF13 2258 genome.wustl.edu 37 X 137793106 137793106 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004114.3 -1 reviewed p.E20D 1.000 138 0% 80 43.8% 0 - benign(0.002) tolerated(0.97) - NULL F9 2158 genome.wustl.edu 37 X 138643994 138643994 + Nonsense_Mutation SNP C C T rs137852261 TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000133.3 +1 reviewed p.R384* 0.749 247 0% 90 48.9% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ATP11C 286410 genome.wustl.edu 37 X 138813830 138813830 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173694.4 -1 validated p.E1128K 1.000 163 0% 50 52% 7 100% benign(0.375) deleterious(0) deleterious(0.564) NULL ATP11C 286410 genome.wustl.edu 37 X 138856893 138856893 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173694.4 -1 validated p.K727N 0.998 347 0% 143 48.3% 5 0% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) superfamily_HAD-like ATP11C 286410 genome.wustl.edu 37 X 138869345 138869345 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173694.4 -1 validated p.K530Q 1.000 242 0% 162 40.1% 5 0% benign(0.045) tolerated(0.46) neutral(0.015) 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-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173694.4 -1 validated p.D346N 1.000 78 0% 28 42.9% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL ATP11C 286410 genome.wustl.edu 37 X 138879362 138879362 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173694.4 -1 validated p.K330N 1.000 299 0% 94 29.8% 2 0% possibly_damaging(0.943) tolerated(0.37) neutral(0.407) NULL ATP11C 286410 genome.wustl.edu 37 X 138901560 138901560 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173694.4 -1 validated p.K61N 1.000 71 0% 61 39.3% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CXorf66 347487 genome.wustl.edu 37 X 139038863 139038863 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013403.2 -1 validated p.K93T 0.002 311 0% 157 15.9% 0 - possibly_damaging(0.936) deleterious(0.02) deleterious(0.764) NULL CXorf66 347487 genome.wustl.edu 37 X 139047631 139047631 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001013403.2 -1 validated p.L9F 0.000 415 0% 172 48.8% 0 - possibly_damaging(0.45) tolerated(0.38) neutral(0.165) NULL SOX3 6658 genome.wustl.edu 37 X 139586875 139586875 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005634.2 -1 reviewed p.A117 0.028 17 0% 15 46.7% 0 - - - - NULL CDR1 1038 genome.wustl.edu 37 X 139866337 139866337 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004065.2 -1 reviewed p.E65D 0.837 321 0% 95 43.2% 0 - possibly_damaging(0.93) tolerated(0.18) neutral(0.432) NULL CDR1 1038 genome.wustl.edu 37 X 139866495 139866495 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004065.2 -1 reviewed p.V13I 0.000 346 0.3% 105 56.2% 0 - benign(0.009) tolerated(0.14) neutral(0.250) NULL MAGEC3 139081 genome.wustl.edu 37 X 140983220 140983220 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000448920 +1 known p.D111N 0.001 135 0% 35 34.3% 0 - unknown(0) - - NULL MAGEC3 139081 genome.wustl.edu 37 X 140985560 140985560 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_138702.1 +1 reviewed p.A625V 0.010 133 0% 37 45.9% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL MAGEC1 9947 genome.wustl.edu 37 X 140994164 140994164 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005462.4 +1 reviewed p.R325I 0.008 526 0% 324 38.3% 0 - unknown(0) tolerated(0.08) - NULL MAGEC1 9947 genome.wustl.edu 37 X 140994794 140994794 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005462.4 +1 reviewed p.S535I 0.223 213 0% 117 12.8% 0 - unknown(0) deleterious(0) - NULL SPANXN3 139067 genome.wustl.edu 37 X 142596730 142596730 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009609.2 -1 validated p.D114Y 0.000 2431 0% 146 56.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SPANXN3 139067 genome.wustl.edu 37 X 142596827 142596827 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001009609.2 -1 validated p.I81 0.000 2993 0.1% 217 46.1% 0 - - - - HMMPfam_SPAN-X SLITRK2 84631 genome.wustl.edu 37 X 144905393 144905393 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144003.2 +1 reviewed p.R484W 0.989 76 0% 74 74.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144905719 144905719 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001144003.2 +1 reviewed p.M592I 0.712 33 0% 38 57.9% 0 - benign(0) tolerated(0.5) neutral(0.010) superfamily_L domain-like MIR513C 100302114 genome.wustl.edu 37 X 146271252 146271252 + RNA SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000401352 -1 known NULL 0.012 338 0% 146 47.9% 0 - - - - - MIR506 574511 genome.wustl.edu 37 X 146312333 146312333 + RNA SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000384998 -1 known NULL 0.178 659 0% 77 46.8% 0 - - - - - FMR1 2332 genome.wustl.edu 37 X 147014240 147014240 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002024.5 +1 reviewed p.E280K 1.000 111 0% 66 56.1% 34 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) FMR1 2332 genome.wustl.edu 37 X 147027072 147027072 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002024.5 +1 reviewed p.R558Q 1.000 188 0% 156 44.2% 85 0% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL AFF2 2334 genome.wustl.edu 37 X 147743597 147743597 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002025.3 +1 reviewed p.E117* 1.000 310 0% 106 44.3% 0 - - - - HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 148037695 148037695 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002025.3 +1 reviewed p.S707Y 1.000 103 0% 69 55.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 148044460 148044460 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002025.3 +1 reviewed p.S969L 0.992 118 0% 55 43.6% 0 - possibly_damaging(0.658) tolerated(0.06) deleterious(0.555) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 148055006 148055006 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002025.3 +1 reviewed p.E1091D 1.000 382 0% 95 40% 1 0% possibly_damaging(0.63) tolerated(1) neutral(0.220) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 148059915 148059915 + Missense_Mutation SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_002025.3 +1 reviewed p.Y1167C 1.000 321 0% 190 50.5% 1 100% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_AF-4 TMEM185A 84548 genome.wustl.edu 37 X 148685709 148685709 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_032508.2 -1 reviewed p.L149I 1.000 103 0% 99 51.5% 21 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Tmemb_185A MAGEA11 4110 genome.wustl.edu 37 X 148797734 148797734 + Silent SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005366.4 +1 reviewed p.G196 0.005 71 0% 48 47.9% 0 - - - - NULL MAGEA11 4110 genome.wustl.edu 37 X 148797858 148797858 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005366.4 +1 reviewed p.R238* 0.003 115 0% 98 46.9% 0 - - - - HMMPfam_MAGE MAMLD1 10046 genome.wustl.edu 37 X 149638113 149638113 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005491.3 +1 reviewed p.D90Y 0.989 71 0% 34 55.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTM1 4534 genome.wustl.edu 37 X 149764968 149764968 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000252.2 +1 reviewed p.R24* 0.929 433 0% 79 39.2% 3 0% - - - NULL MTM1 4534 genome.wustl.edu 37 X 149814292 149814292 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000252.2 +1 reviewed p.S272Y 0.029 356 0% 28 67.9% 7 100% benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Myotub-related,superfamily_SSF52799 PASD1 139135 genome.wustl.edu 37 X 150840810 150840810 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_173493.2 +1 reviewed p.K531N 0.001 237 0.4% 87 50.6% 0 - unknown(0) deleterious(0) - NULL GABRE 2564 genome.wustl.edu 37 X 151143072 151143072 + Missense_Mutation SNP A A T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004961.3 -1 reviewed p.L9H 0.003 54 0% 17 58.8% 0 - unknown(0) - - NULL GABRA3 2556 genome.wustl.edu 37 X 151336808 151336808 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000808.3 -1 reviewed p.K457N 0.997 564 0% 96 36.5% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA3 2556 genome.wustl.edu 37 X 151514105 151514105 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000808.3 -1 reviewed p.I70 1.000 187 0% 12 50% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRQ 55879 genome.wustl.edu 37 X 151814012 151814012 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_018558.2 +1 reviewed p.S88Y 0.999 439 0.2% 229 41.5% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD MAGEA6 4105 genome.wustl.edu 37 X 151870228 151870228 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_005363.2 +1 reviewed p.E306 0.001 212 0% 181 45.3% 0 - - - - NULL PNMA5 114824 genome.wustl.edu 37 X 152159629 152159629 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001103150.1 -1 validated p.E172K 0.527 77 0% 46 43.5% 0 - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) NULL MAGEA1 4100 genome.wustl.edu 37 X 152482797 152482797 + Nonsense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_004988.4 -1 reviewed p.R72* 0.000 58 0% 72 40.3% 0 - - - - NULL ZFP92 139735 genome.wustl.edu 37 X 152684246 152684246 + Nonsense_Mutation SNP T T A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001136273.1 +1 validated p.L50* 0.039 68 0% 156 46.2% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box HAUS7 55559 genome.wustl.edu 37 X 152722093 152722093 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_017518.6 -1 reviewed p.E165K 0.000 40 0% 29 44.8% 30 0% probably_damaging(0.973) tolerated(0.34) neutral(0.438) NULL DUSP9 1852 genome.wustl.edu 37 X 152915045 152915045 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000433144 +1 known p.S215L 0.201 18 0% 29 51.7% 0 - - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II L1CAM 3897 genome.wustl.edu 37 X 153133528 153133528 + Missense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000425.3 -1 reviewed p.D585N 0.999 49 0% 37 37.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ENSG00000196987 0 genome.wustl.edu 37 X 153152430 153152430 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000357566 +1 known p.R104* 0.000 43 2.3% 29 44.8% 0 - - - - NULL AVPR2 554 genome.wustl.edu 37 X 153171602 153171602 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000054.4 +1 reviewed p.F214 0.994 78 0% 36 52.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARHGAP4 393 genome.wustl.edu 37 X 153185024 153185024 + Silent SNP A A G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000418750 -1 known p.S114P 0.004 22 0% 20 50% 0 - - - - NULL OPN1MW2 728458 genome.wustl.edu 37 X 153490384 153490384 + Silent SNP C C T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001048181.2 +1 reviewed p.F40 0.943 156 0% 32 50% 0 - - - - superfamily_SSF81321 TKTL1 8277 genome.wustl.edu 37 X 153524338 153524338 + Silent SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_012253.3 +1 validated p.T42 0.001 170 0% 69 46.4% 1 0% - - - superfamily_Thiamin diphosphate-binding fold (THDP-binding) G6PD 2539 genome.wustl.edu 37 X 153762348 153762348 + Silent SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000402.3 -1 reviewed p.I254 0.998 46 0% 63 39.7% 134 0% - - - HMMPfam_G6PD_C,superfamily_SSF55347 IKBKG 8517 genome.wustl.edu 37 X 153780303 153780303 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001099856.2 +1 reviewed p.E97A 0.992 35 0% 26 38.5% 35 0% possibly_damaging(0.675) tolerated(0.15) deleterious(0.480) NULL GAB3 139716 genome.wustl.edu 37 X 153924241 153924241 + Missense_Mutation SNP A A C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081573.1 -1 reviewed p.F494C 0.994 245 0% 161 41.6% 0 - benign(0.159) tolerated(0.06) neutral(0.337) NULL GAB3 139716 genome.wustl.edu 37 X 153927748 153927748 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081573.1 -1 reviewed p.S389I 0.007 87 0% 53 26.4% 0 - possibly_damaging(0.906) tolerated(0.18) neutral(0.415) NULL GAB3 139716 genome.wustl.edu 37 X 153928296 153928296 + Missense_Mutation SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001081573.1 -1 reviewed p.R370W 1.000 206 0.5% 112 37.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DKC1 1736 genome.wustl.edu 37 X 153997467 153997467 + Missense_Mutation SNP T T C novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_001363.3 +1 reviewed p.V266A 0.982 122 0% 137 48.9% 115 0% probably_damaging(0.955) deleterious(0) deleterious(0.843) superfamily_PsdUridine_synth_cat_dom SNORA56 677835 genome.wustl.edu 37 X 154003309 154003309 + RNA SNP G G A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NR_002984.1 +1 reviewed NULL 0.719 23 0% 39 51.3% 2 0% - - - - F8 2157 genome.wustl.edu 37 X 154225261 154225261 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_000132.3 -1 reviewed p.W125C 1.000 141 0.7% 55 47.3% 1 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_Cupredoxins MTCP1NB 100272147 genome.wustl.edu 37 X 154290194 154290194 + Missense_Mutation SNP T T G novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab ENST00000369479 -1 known p.K44T 1.000 223 0% 114 45.6% 64 0% benign(0) tolerated(0.53) neutral(0.007) HMMPfam_DUF1903,superfamily_p8-MTCP1 BRCC3 79184 genome.wustl.edu 37 X 154327609 154327609 + Missense_Mutation SNP G G T novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_024332.2 +1 reviewed p.D190Y 0.998 203 0% 46 41.3% 7 0% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL RAB39B 116442 genome.wustl.edu 37 X 154490101 154490101 + Missense_Mutation SNP C C A novel TCGA-AX-A0J0-01A-11D-A117-09 TCGA-AX-A0J0-10A-02X-A10H-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ebc8a1db-78e2-49cb-826f-e5dca3fc61be e45e1020-fdd5-46b1-805f-2b7b8ae6dcab NM_171998.2 -1 reviewed p.R210I 1.000 183 0% 79 53.2% 1 0% possibly_damaging(0.708) tolerated(0.08) deleterious(0.555) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases