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 ARID1A 8289 genome.wustl.edu 37 1 27105820 27105820 + Frame_Shift_Del DEL A A - novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_006015.4 +1 reviewed p.K1811fs 1.000 - - - - - - - - - NULL FAM5C 339479 genome.wustl.edu 37 1 190234172 190234172 + Silent SNP G G T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_199051.1 -1 provisional p.L147 1.000 150 0% 126 19% 0 - - - - HMMPfam_MACPF,HMMSmart_SM00457 CIR1 9541 genome.wustl.edu 37 2 175213407 175213407 + Missense_Mutation SNP G G A rs144271294 by1000genomes TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_004882.3 -1 validated p.R391W 0.822 492 0.2% 388 18% 84 19% possibly_damaging(0.44) deleterious(0.01) deleterious(0.549) NULL ZFAND2B 130617 genome.wustl.edu 37 2 220072684 220072684 + Missense_Mutation SNP C C G novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_138802.1 +1 provisional p.R120G 0.993 57 0% 66 22.7% 35 11.4% benign(0.003) tolerated(0.34) neutral(0.023) HMMPfam_zf-AN1,HMMSmart_SM00154 MLPH 79083 genome.wustl.edu 37 2 238451259 238451259 + Missense_Mutation SNP C C T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_024101.5 +1 reviewed p.T499M 0.691 43 0% 43 11.6% 137 34.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PIK3CA 5290 genome.wustl.edu 37 3 178952090 178952090 + Missense_Mutation SNP G G C rs121913277 byCluster TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_006218.2 +1 reviewed p.G1049R 1.000 198 0% 85 16.5% 18 16.6% possibly_damaging(0.871) tolerated(0.37) neutral(0.358) HMMSmart_PI3Kc,superfamily_Kinase_like MSANTD1 345222 genome.wustl.edu 37 4 3255044 3255044 + Missense_Mutation SNP C C A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_001042690.1 +1 validated p.P144Q 1.000 26 0% 50 16% 1 100% benign(0.009) tolerated(0.16) neutral(0.060) NULL TBC1D14 57533 genome.wustl.edu 37 4 6925153 6925153 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_001113361.1 +1 validated p.V13I 0.116 56 0% 45 26.7% 7 14.2% benign(0.012) deleterious(0) neutral(0.445) NULL LCORL 254251 genome.wustl.edu 37 4 17964590 17964591 + Splice_Site INS - - A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_153686.7 -1 reviewed e3+2 1.000:1.000 - - - - - - - - - - LOC644578 644578 genome.wustl.edu 37 4 64216381 64216381 + Silent SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f XM_927694.2 +1 model p.S238 1.000 84 0% 112 24.1% 0 - - - - "HMMPfam_La,HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" DCHS2 54798 genome.wustl.edu 37 4 155250789 155250789 + Missense_Mutation SNP G G T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_017639.3 -1 validated p.D813E 1.000 74 0% 78 19.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CLCN3 1182 genome.wustl.edu 37 4 170613324 170613324 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_173872.2 +1 validated p.M263I 1.000 337 0% 218 14.7% 8 12.5% benign(0) tolerated(0.86) neutral(0.001) HMMPfam_Voltage_CLC,superfamily_Cl-channel_core ITK 3702 genome.wustl.edu 37 5 156665120 156665120 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_005546.3 +1 reviewed p.G257D 1.000 305 0% 226 19.9% 0 - benign(0.003) tolerated(0.63) neutral(0.004) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH3-domain,superfamily_SH2 domain CRISP1 167 genome.wustl.edu 37 6 49808665 49808665 + Missense_Mutation SNP G G T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_001131.2 -1 reviewed p.S160Y 0.000 143 0% 134 28.4% 0 - benign(0.163) tolerated(0.31) neutral(0.042) HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like ENSG00000248675 0 genome.wustl.edu 37 7 10492385 10492385 + RNA SNP A A G novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f ENST00000510654 -1 known NULL 1.000 135 0% 65 21.5% 0 - - - - - STAG3 10734 genome.wustl.edu 37 7 99802381 99802381 + Silent SNP C C T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_012447.2 +1 validated p.L978 0.600 120 0% 102 16.7% 0 - - - - superfamily_ARM repeat FAM208B 54906 genome.wustl.edu 37 10 5788372 5788372 + Silent SNP C C T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_017782.4 +1 validated p.Y996 0.000 211 0.5% 179 21.8% 17 23.5% - - - NULL CSGALNACT2 55454 genome.wustl.edu 37 10 43650736 43650736 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_018590.3 +1 provisional p.V47I 0.063 267 0% 320 20% 8 0% benign(0.001) tolerated(0.73) neutral(0.002) HMMPfam_CHGN CCAR1 55749 genome.wustl.edu 37 10 70520794 70520794 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_018237.2 +1 validated p.R651* 1.000 195 0% 156 17.9% 35 28.5% - - - HMMPfam_SAP,HMMSmart_SM00513,superfamily_SAP domain PTEN 5728 genome.wustl.edu 37 10 89711875 89711875 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f ENST00000371953 +1 known p.G165R 1.000 301 0% 205 32.2% 45 22.2% possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II DCHS1 8642 genome.wustl.edu 37 11 6646540 6646540 + Silent SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_003737.2 -1 reviewed p.Y2345 1.000 91 0% 89 15.7% 43 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin INSC 387755 genome.wustl.edu 37 11 15262010 15262010 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_001031853.3 +1 provisional p.E518K 0.995 104 0% 123 17.9% 0 - benign(0.005) tolerated(0.65) neutral(0.003) HMMSmart_SM00185,superfamily_ARM repeat LRP6 4040 genome.wustl.edu 37 12 12284809 12284809 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_002336.2 -1 reviewed p.R1306* 1.000 120 0% 121 14.9% 19 10.5% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_033360.2 -1 reviewed p.G12D 1.000 356 0% 303 17.5% 6 0% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SCAF11 9169 genome.wustl.edu 37 12 46322550 46322550 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_004719.2 -1 validated p.R312* 1.000 242 0% 164 15.9% 21 14.2% - - - NULL CIT 11113 genome.wustl.edu 37 12 120150412 120150412 + Silent SNP T T C novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_007174.1 -1 validated p.A1514 1.000 58 0% 58 15.5% 4 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CLPX 10845 genome.wustl.edu 37 15 65449190 65449190 + Missense_Mutation SNP C C A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_006660.3 -1 provisional p.V380F 1.000 372 0% 243 15.2% 27 11.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00382,HMMPfam_AAA_2,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH4 4622 genome.wustl.edu 37 17 10353795 10353795 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_017533.2 -1 validated p.R1386C 1.000 304 0% 276 18.1% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Myosin_tail_1 ASF1B 55723 genome.wustl.edu 37 19 14232344 14232344 + Silent SNP C C T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_018154.2 -1 reviewed p.Q134 1.000 126 0% 152 13.8% 15 0% - - - HMMPfam_ASF1_hist_chap,superfamily_Anti-silence SLC1A6 6511 genome.wustl.edu 37 19 15082641 15082641 + Missense_Mutation SNP C C T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_005071.1 -1 provisional p.R84H 1.000 149 0% 223 18.8% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SDF STRN4 29888 genome.wustl.edu 37 19 47240116 47240116 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_001039877.1 -1 validated p.P168L 1.000 71 0% 87 12.6% 34 17.6% benign(0.019) tolerated(0.07) neutral(0.320) HMMPfam_Striatin CTSA 5476 genome.wustl.edu 37 20 44521404 44521404 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_000308.2 +1 reviewed p.R180H 0.255 173 0% 162 17.9% 105 22.8% benign(0.01) tolerated(0.15) neutral(0.241) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases TOP3B 8940 genome.wustl.edu 37 22 22328813 22328813 + Missense_Mutation SNP C C T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_003935.3 -1 reviewed p.E40K 0.994 77 1.3% 76 19.7% 8 37.5% benign(0.001) tolerated(0.06) neutral(0.323) superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00493,HMMPfam_Toprim XBP1 7494 genome.wustl.edu 37 22 29191286 29191287 + Frame_Shift_Ins INS - - T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_001079539.1 -1 reviewed p.Y336fs 0.900:0.918 - - - - - - - - - NULL ADSL 158 genome.wustl.edu 37 22 40746034 40746034 + Missense_Mutation SNP A A G novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_000026.2 +1 reviewed p.N118D 1.000 257 0% 230 15.2% 62 29% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lyase_1,superfamily_L-aspartase-like DHRSX 207063 genome.wustl.edu 37 X 2139254 2139254 + Missense_Mutation SNP G G A novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_145177.2 -1 validated p.A274V 0.957 331 0% 345 17.1% 54 29.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_NAD(P)-bd DMD 1756 genome.wustl.edu 37 X 31241179 31241179 + Missense_Mutation SNP G G T novel TCGA-B5-A11M-01A-11D-A122-09 TCGA-B5-A11M-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6702d47-7253-4bcc-bf4d-c006a9d0bf87 4adaa21d-6a0d-46a2-99b5-93646b017c2f NM_004006.2 -1 reviewed p.Q3116K 1.000 224 0% 132 13.6% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_efhand_1,superfamily_EF-hand