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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error TCHHL1 126637 genome.wustl.edu 36 1 150326132 150326132 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 1 150326132 150326132 T A SNP TCHHL1 NM_001008536 human genbank 54_36p -1 provisional missense c.650 p.K217M NULL - - no_errors PYHIN1 149628 genome.wustl.edu 36 1 157175519 157175519 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 1 157175519 157175519 A G SNP PYHIN1 NM_152501 human genbank 54_36p 1 validated missense c.437 p.E146G NULL - - no_errors USH2A 7399 genome.wustl.edu 36 1 213968176 213968176 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 1 213968176 213968176 T C SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.11885 p.E3962G 1 NULL - - no_errors AFAP1L2 84632 genome.wustl.edu 36 10 116050271 116050271 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 10 116050271 116050271 C T SNP AFAP1L2 NM_001001936 human genbank 54_36p -1 validated missense c.1711 p.A571T NULL HMMPfam_PH;superfamily_PH domain-like - no_errors CRTAC1 55118 genome.wustl.edu 36 10 99634050 99634050 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 10 99634050 99634050 A C SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated missense c.1535 p.M512R 0.275 HMMPfam_UnbV_ASPIC HMMPfam_UnbV_ASPIC,HMMPfam_EGF_CA,HMMPfam_FG-GAP,superfamily_EGF/Laminin,superfamily_Integrin alpha N-terminal domain - no_errors ROBO3 64221 genome.wustl.edu 36 11 124255593 124255593 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 11 124255593 124255593 C T SNP ROBO3 NM_022370 human genbank 54_36p 1 validated missense c.4028 p.T1343M 0.96 NULL HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;superfamily_Immunoglobulin - no_errors SDHAF2 54949 genome.wustl.edu 36 11 60962141 60962141 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 11 60962141 60962141 A G SNP C11orf79 NM_017841 human genbank 54_36p 1 predicted missense c.350 p.D117G 1 NULL - - no_errors TUBA3C 7278 genome.wustl.edu 36 13 18646050 18646051 + Missense_Mutation DNP CC CC AA novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 CC CC CC AA CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 13 18646050 18646051 CC AA DNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed missense c.1306_1305 p.G436C 0.999:0.979 NULL HMMPfam_Tubulin;HMMPfam_Tubulin_C;superfamily_Tubulin nucleotide-binding domain-like;superfamily_Tubulin C-terminal domain-like - no_errors GTF3A 2971 genome.wustl.edu 36 13 26907711 26907711 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 13 26907711 26907711 G A SNP GTF3A ENST00000381140 human ensembl 54_36p 1 known missense c.1246 p.V416I 0.01 NULL HMMPfam_zf-C2H2;superfamily_C2H2 and C2HC zinc fingers - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104484262 104484262 + Silent SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 14 104484262 104484262 C T SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated silent c.8571 p.K2857 0.38 NULL - - no_errors SLC9A5 6553 genome.wustl.edu 36 16 65855797 65855797 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 16 65855797 65855797 G A SNP SLC9A5 ENST00000360183 human ensembl 54_36p 1 known missense c.374 p.R125H 0.61 NULL - - no_start_codon GFAP 2670 genome.wustl.edu 36 17 40346652 40346652 + Silent SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 17 40346652 40346652 C T SNP GFAP NM_002055 human genbank 54_36p -1 reviewed silent c.588 p.E196 1 HMMPfam_Filament HMMPfam_Filament;HMMPfam_Filament_head - no_errors TRIM37 4591 genome.wustl.edu 36 17 54483461 54483461 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 17 54483461 54483461 G C SNP TRIM37 NM_001005207 human genbank 54_36p -1 reviewed missense c.1210 p.R404G 1 NULL HMMPfam_zf-B_box;HMMPfam_MATH;superfamily_TRAF domain-like;superfamily_RING/U-box - no_errors TP53 7157 genome.wustl.edu 36 17 7518305 7518305 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 17 7518305 7518305 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.701 p.Y234C 1 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors NPHP1 4867 genome.wustl.edu 36 2 110284692 110284692 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 2 110284692 110284692 C G SNP NPHP1 NM_000272 human genbank 54_36p -1 reviewed missense c.502 p.V168L 0.73 NULL - - no_errors COL6A3 1293 genome.wustl.edu 36 2 237945697 237945697 + Silent SNP C C A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 2 237945697 237945697 C A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed silent c.3702 p.V1234 1 HMMPfam_VWA VWA;HMMPfam_VWA;Kunitz_BPTI;HMMPfam_Kunitz_BPTI;Collagen;HMMPfam_Collagen - no_errors SEZ6L 23544 genome.wustl.edu 36 22 25018759 25018759 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 22 25018759 25018759 C T SNP SEZ6L NM_021115 human genbank 54_36p 1 validated missense c.482 p.T161M 0.37 NULL HMMPfam_Sushi;HMMPfam_CUB;superfamily_Spermadhesin CUB domain;superfamily_Complement control module/SCR domain - no_errors KCNMB2 10242 genome.wustl.edu 36 3 180043309 180043309 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 3 180043309 180043309 C G SNP KCNMB2 NM_005832 human genbank 54_36p 1 reviewed missense c.598 p.L200V 0.98 NULL - - no_errors FLNB 2317 genome.wustl.edu 36 3 58084165 58084165 + Silent SNP G G A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 3 58084165 58084165 G A SNP FLNB NM_001457 human genbank 54_36p 1 validated silent c.3432 p.E1144 0.95 HMMPfam_Filamin HMMPfam_Filamin;HMMPfam_CH;superfamily_E set domains;superfamily_Calponin-homology domain CH-domain - no_errors EEF1A1P9 441032 genome.wustl.edu 36 4 106626006 106626006 + RNA SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 4 106626006 106626006 C G SNP EEF1AL7 NR_003586 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - pseudogene PCDHA3 56145 genome.wustl.edu 36 5 140162580 140162580 + Silent SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 5 140162580 140162580 C T SNP PCDHA3 NM_018906 human genbank 54_36p 1 reviewed silent c.1614 p.R538 1 NULL - - no_errors ERBB2IP 55914 genome.wustl.edu 36 5 65385839 65385839 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 5 65385839 65385839 C G SNP ERBB2IP NM_018695 human genbank 54_36p 1 reviewed missense c.2937 p.I979M 0.98 NULL HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_LRR_1;superfamily_L domain-like - no_errors MIR517C 574492 genome.wustl.edu 36 19 58936414 58936414 + RNA SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 19 58936414 58936414 C G SNP MIRN517C ENST00000385103 human ensembl 54_36p 1 known rna NULL NULL - - - no_errors PLEKHG1 57480 genome.wustl.edu 36 6 151096794 151096794 + Nonsense_Mutation SNP C C G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 6 151096794 151096794 C G SNP PLEKHG1 NM_001029884 human genbank 54_36p 1 provisional nonsense c.284 p.S95* NULL - - no_errors CHN2 1124 genome.wustl.edu 36 7 29406693 29406693 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 7 29406693 29406693 C T SNP CHN2 ENST00000409350 human ensembl 54_36p 1 known missense c.251 p.T84I 0.96 NULL - - no_errors AUTS2 26053 genome.wustl.edu 36 7 69866088 69866088 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 7 69866088 69866088 G A SNP AUTS2 NM_015570 human genbank 54_36p 1 validated missense c.1039 p.E347K 0.71 NULL - - no_errors CASD1 64921 genome.wustl.edu 36 7 94005092 94005092 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 7 94005092 94005092 A G SNP CASD1 NM_022900 human genbank 54_36p 1 validated missense c.1216 p.I406V 1 HMMPfam_Cas1p superfamily_Cyclin-like;HMMPfam_Cas1p - no_errors ASNS 440 genome.wustl.edu 36 7 97336247 97336247 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 7 97336247 97336247 A G SNP ASNS NM_001673 human genbank 54_36p -1 reviewed missense c.158 p.V53A 1 HMMPfam_GATase_2 HMMPfam_GATase_2;HMMPfam_Asn_synthase;superfamily_Adenine nucleotide alpha hydrolases-like;superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) - no_errors RNF19A 25897 genome.wustl.edu 36 8 101369047 101369047 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 8 101369047 101369047 C T SNP RNF19A NM_015435 human genbank 54_36p -1 reviewed missense c.532 p.E178K 1 NULL - - no_errors ABRA 137735 genome.wustl.edu 36 8 107842709 107842709 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 8 107842709 107842709 G T SNP ABRA NM_139166 human genbank 54_36p -1 validated missense c.878 p.T293N 1 NULL - - no_errors CSMD3 114788 genome.wustl.edu 36 8 113655017 113655017 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 8 113655017 113655017 T G SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.3931 p.T1311P 1 HMMPfam_CUB HMMPfam_Sushi;HMMPfam_CUB;superfamily_Spermadhesin CUB domain;superfamily_Complement control module/SCR domain - no_errors SLCO5A1 81796 genome.wustl.edu 36 8 70748033 70748033 + Silent SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 8 70748033 70748033 A G SNP SLCO5A1 NM_030958 human genbank 54_36p -1 reviewed silent c.2172 p.G724 1 HMMPfam_OATP HMMPfam_OATP;HMMPfam_Kazal_2;superfamily_Kazal-type serine protease inhibitors;superfamily_MFS general substrate transporter - no_errors ZCCHC7 84186 genome.wustl.edu 36 9 37294239 37294239 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx f8d4c37d-5b4d-4f5a-8022-7da2b32cc1b0 ef7d30e9-2213-4e03-9e0e-3017de7bc5a3 9 37294239 37294239 G C SNP ZCCHC7 NM_032226 human genbank 54_36p 1 validated missense c.709 p.A237P 0.78 NULL - - no_errors