regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH1L1_chr3_126098570_126185586 | 126137834 | C | A | missense_variant | MODERATE | HG01070.hp2 HG01081.hp2 |
a0017 | a0017c0016 | a0017c0016t0001 | a0017c0016t0001g0052a0017c0016t0001g0295 | 2 | 338 | 0.0059 | 0 | c.120 others(4): Show |
p.Glu others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 10/23 | 1337/3064 | 1203/2709 | 401/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126137845 | C | G | missense_variant | MODERATE | HG02071.hp1 | a0021 | a0021c0036 | a0021c0036t0001 | a0021c0036t0001g0267 | 1 | 338 | 0.0030 | 0 | c.119 others(4): Show |
p.Asp others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 10/23 | 1326/3064 | 1192/2709 | 398/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126146923 | C | A | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(110): Show |
a0002a0005a0006others(10): Show | a0002c0002a0002c0013a0005c0005others(16): Show | a0002c0002t0001a0002c0013t0001a0005c0005t0001others(16): Show | a0002c0002t0001g0011a0002c0002t0001g0012a0002c0002t0001g0029others(100): Show | 113 | 338 | 0.3343 | 0 | c.988 others(3): Show |
p.Val others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 9/23 | 1122/3064 | 988/2709 | 330/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126153541 | A | G | missense_variant | MODERATE | HG00639.hp1 HG01070.hp2 HG01081.hp2 others(20): Show |
a0004a0017a0027 | a0004c0004a0017c0016a0027c0027 | a0004c0004t0001a0017c0016t0001a0027c0027t0001 | a0004c0004t0001g0020a0004c0004t0001g0043a0004c0004t0001g0064others(20): Show | 23 | 338 | 0.0681 | 0 | c.761 others(3): Show |
p.Leu others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 7/23 | 895/3064 | 761/2709 | 254/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126153560 | T | C | missense_variant | MODERATE | HG01123.hp1 | a0018 | a0018c0042 | a0018c0042t0001 | a0018c0042t0001g0155 | 1 | 338 | 0.0030 | 0 | c.742 others(3): Show |
p.Thr others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 7/23 | 876/3064 | 742/2709 | 248/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126155402 | C | A | missense_variant others(1): Show |
MODERATE | NA18995.hp1 | a0028 | a0028c0025 | a0028c0025t0001 | a0028c0025t0001g0159 | 1 | 338 | 0.0030 | 0 | c.630 others(3): Show |
p.Lys others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 5/23 | 764/3064 | 630/2709 | 210/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126155407 | C | G | missense_variant | MODERATE | NA18995.hp1 | a0028 | a0028c0025 | a0028c0025t0001 | a0028c0025t0001g0159 | 1 | 338 | 0.0030 | 0 | c.625 others(3): Show |
p.Ala others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 5/23 | 759/3064 | 625/2709 | 209/902 | chr3 | TogoVar | ||
ALDH1L2_chr12_105014790_105089458 | 105031835 | A | G | missense_variant | MODERATE | HG02723.hp2 HG02809.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0231a0006c0009t0001g0232 | 2 | 386 | 0.0052 | 0 | c.234 others(4): Show |
p.Tyr others(6): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 20/23 | 2366/7428 | 2344/2772 | 782/923 | chr12 | TogoVar | ||
ALDH1L2_chr12_105014790_105089458 | 105046927 | G | C | missense_variant | MODERATE | HG02027.hp1 HG02056.hp1 HG02165.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0003a0003c0005t0022 | a0003c0005t0003g0096a0003c0005t0003g0136a0003c0005t0003g0307others(1): Show | 4 | 386 | 0.0104 | 0 | c.172 others(4): Show |
p.Leu others(6): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 14/23 | 1751/7428 | 1729/2772 | 577/923 | chr12 | TogoVar | ||
ALDH1L2_chr12_105014790_105089458 | 105046941 | C | T | missense_variant | MODERATE | HG02015.hp2 NA18957.hp1 NA18974.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0163a0002c0004t0002g0206a0002c0004t0002g0230others(2): Show | 5 | 386 | 0.0130 | 0 | c.171 others(4): Show |
p.Arg others(6): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 14/23 | 1737/7428 | 1715/2772 | 572/923 | chr12 | TogoVar | ||
ALDH1L2_chr12_105014790_105089458 | 105061688 | G | A | missense_variant | MODERATE | NA19077.hp2 NA19090.hp1 |
a0005 | a0005c0012 | a0005c0012t0006a0005c0012t0014 | a0005c0012t0006g0171a0005c0012t0014g0170 | 2 | 386 | 0.0052 | 0 | c.986 others(3): Show |
p.Thr others(6): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 8/23 | 1008/7428 | 986/2772 | 329/923 | chr12 | TogoVar | ||
ALDH1L2_chr12_105014790_105089458 | 105062932 | C | T | missense_variant | MODERATE | HG03490.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0239 | 1 | 386 | 0.0026 | 0 | c.877 others(3): Show |
p.Val others(6): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 7/23 | 899/7428 | 877/2772 | 293/923 | chr12 | TogoVar | ||
ALDH1L2_chr12_105014790_105089458 | 105070661 | G | C | missense_variant | MODERATE | HG00558.hp1 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0149 | 1 | 386 | 0.0026 | 0 | c.337 others(3): Show |
p.Pro others(6): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 3/23 | 359/7428 | 337/2772 | 113/923 | chr12 | TogoVar | ||
ALDH1L2_chr12_105014790_105089458 | 105070798 | G | A | missense_variant | MODERATE | HG02896.hp2 | a0010 | a0010c0018 | a0010c0018t0028 | a0010c0018t0028g0075 | 1 | 386 | 0.0026 | 0 | c.200 others(3): Show |
p.Ala others(5): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 3/23 | 222/7428 | 200/2772 | 67/923 | chr12 | TogoVar | ||
ALDH1L2_chr12_105014790_105089458 | 105073914 | C | T | missense_variant | MODERATE | NA18972.hp2 | a0007 | a0007c0014 | a0007c0014t0005 | a0007c0014t0005g0245 | 1 | 386 | 0.0026 | 0 | c.140 others(3): Show |
p.Arg others(5): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/23 | 162/7428 | 140/2772 | 47/923 | chr12 | TogoVar | ||
ALDH1L2_chr12_105014790_105089458 | 105073920 | C | A | missense_variant | MODERATE | HG00735.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0080 | 1 | 386 | 0.0026 | 0 | c.134 others(3): Show |
p.Gly others(5): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/23 | 156/7428 | 134/2772 | 45/923 | chr12 | TogoVar | ||
ALDH2_chr12_111761933_111822532 | 111790546 | C | A | missense_variant | MODERATE | HG02074.hp1 | a0005 | a0005c0005 | a0005c0005t0066 | a0005c0005t0066g0097 | 1 | 342 | 0.0029 | 0 | c.665 others(3): Show |
p.Ala others(6): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 6/13 | 715/9561 | 665/1554 | 222/517 | chr12 | TogoVar | ||
ALDH2_chr12_111761933_111822532 | 111791355 | C | T | missense_variant | MODERATE | HG02602.hp1 HG03491.hp2 HG03492.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0027a0003c0003t0062 | a0003c0003t0005g0094a0003c0003t0027g0019a0003c0003t0062g0118 | 4 | 342 | 0.0117 | 0 | c.731 others(3): Show |
p.Thr others(6): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 7/13 | 781/9561 | 731/1554 | 244/517 | chr12 | TogoVar | ||
ALDH2_chr12_111761933_111822532 | 111798121 | C | T | missense_variant | MODERATE | HG02717.hp1 | a0004 | a0004c0008 | a0004c0008t0034 | a0004c0008t0034g0005 | 1 | 342 | 0.0029 | 0 | c.112 others(4): Show |
p.Thr others(6): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 10/13 | 1177/9561 | 1127/1554 | 376/517 | chr12 | TogoVar | ||
ALDH2_chr12_111761933_111822532 | 111803962 | G | A | missense_variant | MODERATE | HG00438.hp1 HG00544.hp2 HG00673.hp2 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0009others(3): Show | a0002c0002t0001g0003a0002c0002t0001g0115a0002c0002t0001g0191others(13): Show | 25 | 342 | 0.0731 | 0 | c.151 others(4): Show |
p.Glu others(6): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 12/13 | 1560/9561 | 1510/1554 | 504/517 | chr12 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19739035 | C | T | missense_variant | MODERATE | HG02451.hp2 HG02976.hp2 |
a0007 | a0007c0011 | a0007c0011t0005 | a0007c0011t0005g0095a0007c0011t0005g0096 | 2 | 424 | 0.0047 | 0 | c.117 others(4): Show |
p.Val others(6): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 9/11 | 1222/1639 | 1177/1362 | 393/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19739639 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(165): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0010a0001c0020others(3): Show | a0001c0001t0001a0001c0010t0001a0001c0010t0002others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(50): Show | 168 | 424 | 0.3962 | 0 | c.985 others(3): Show |
p.Pro others(6): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 8/11 | 1030/1639 | 985/1362 | 329/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19740359 | C | T | missense_variant | MODERATE | NA18747.hp2 NA18950.hp1 NA18964.hp1 others(8): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0014a0004c0006t0001g0019a0004c0006t0001g0055others(1): Show | 11 | 424 | 0.0259 | 0 | c.926 others(3): Show |
p.Gly others(6): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 7/11 | 971/1639 | 926/1362 | 309/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19740371 | T | A | missense_variant | MODERATE | HG02055.hp1 HG02723.hp2 HG02886.hp1 others(2): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0020a0005c0008t0001g0052a0005c0008t0001g0053 | 5 | 424 | 0.0118 | 0 | c.914 others(3): Show |
p.Tyr others(6): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 7/11 | 959/1639 | 914/1362 | 305/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19740440 | T | C | missense_variant | MODERATE | HG00280.hp2 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0089 | 1 | 424 | 0.0024 | 0 | c.845 others(3): Show |
p.Tyr others(6): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 7/11 | 890/1639 | 845/1362 | 282/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19741143 | C | T | missense_variant | MODERATE | HG02523.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0127 | 1 | 424 | 0.0024 | 0 | c.757 others(3): Show |
p.Asp others(6): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 6/11 | 802/1639 | 757/1362 | 253/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19742100 | G | A | missense_variant | MODERATE | NA18984.hp2 | a0009 | a0009c0021 | a0009c0021t0002 | a0009c0021t0002g0081 | 1 | 424 | 0.0024 | 0 | c.593 others(3): Show |
p.Thr others(6): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 5/11 | 638/1639 | 593/1362 | 198/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19742625 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(340): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0010a0001c0020others(16): Show | a0001c0001t0001a0001c0010t0001a0001c0010t0002others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(118): Show | 343 | 424 | 0.8090 | 0 | c.400 others(3): Show |
p.Ser others(6): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 4/11 | 445/1639 | 400/1362 | 134/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19743298 | C | T | missense_variant | MODERATE | HG03579.hp1 | a0008 | a0008c0016 | a0008c0016t0002 | a0008c0016t0002g0093 | 1 | 424 | 0.0024 | 0 | c.328 others(3): Show |
p.Val others(6): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 3/11 | 373/1639 | 328/1362 | 110/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19745003 | C | G | missense_variant | MODERATE | NA20129.hp2 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0054 | 1 | 424 | 0.0024 | 0 | c.127 others(3): Show |
p.Glu others(5): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 2/11 | 172/1639 | 127/1362 | 43/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19745036 | C | T | missense_variant | MODERATE | HG03041.hp2 | a0013 | a0013c0014 | a0013c0014t0001 | a0013c0014t0001g0085 | 1 | 424 | 0.0024 | 0 | c.94G others(2): Show |
p.Ala others(5): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 2/11 | 139/1639 | 94/1362 | 32/453 | chr17 | TogoVar | ||
ALDH3A1_chr17_19732989_19753298 | 19745120 | T | A | missense_variant | MODERATE | HG00597.hp1 NA19010.hp1 |
a0006 | a0006c0013 | a0006c0013t0003 | a0006c0013t0003g0107a0006c0013t0003g0108 | 2 | 424 | 0.0047 | 0 | c.10A others(2): Show |
p.Ile others(4): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 2/11 | 55/1639 | 10/1362 | 4/453 | chr17 | TogoVar | ||
ALDH3A2_chr17_19643751_19682596 | 19648999 | C | G | missense_variant | MODERATE | NA20905.hp1 | a0002 | a0002c0006 | a0002c0006t0020 | a0002c0006t0020g0130 | 1 | 366 | 0.0027 | 0 | c.28C others(2): Show |
p.Gln others(5): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 1/10 | 249/3703 | 28/1458 | 10/485 | chr17 | TogoVar | ||
ALDH3A2_chr17_19643751_19682596 | 19671783 | C | T | missense_variant | MODERATE | HG01167.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0160 | 1 | 366 | 0.0027 | 0 | c.127 others(4): Show |
p.Pro others(6): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 9/10 | 1491/3703 | 1270/1458 | 424/485 | chr17 | TogoVar | ||
ALDH3B1_chr11_68005327_68034276 | 68015400 | C | T | missense_variant | MODERATE | HG02922.hp2 | a0005 | a0005c0020 | a0005c0020t0016 | a0005c0020t0016g0018 | 1 | 374 | 0.0027 | 0 | c.103 others(3): Show |
p.Arg others(5): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 2/10 | 170/2811 | 103/1407 | 35/468 | chr11 | TogoVar | ||
ALDH3B1_chr11_68005327_68034276 | 68018834 | C | T | missense_variant | MODERATE | NA20300.hp2 | a0006 | a0006c0019 | a0006c0019t0003 | a0006c0019t0003g0031 | 1 | 374 | 0.0027 | 0 | c.335 others(3): Show |
p.Ala others(6): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 4/10 | 402/2811 | 335/1407 | 112/468 | chr11 | TogoVar | ||
ALDH3B1_chr11_68005327_68034276 | 68021806 | G | A | missense_variant | MODERATE | HG02258.hp1 HG03209.hp1 HG06807.hp2 |
a0003 | a0003c0011 | a0003c0011t0002 | a0003c0011t0002g0020 | 3 | 374 | 0.0080 | 0 | c.884 others(3): Show |
p.Arg others(6): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 7/10 | 951/2811 | 884/1407 | 295/468 | chr11 | TogoVar | ||
ALDH3B1_chr11_68005327_68034276 | 68021823 | G | A | missense_variant | MODERATE | NA18956.hp2 NA18960.hp1 NA18970.hp2 others(3): Show |
a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0002 | 6 | 374 | 0.0160 | 0 | c.901 others(3): Show |
p.Gly others(6): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 7/10 | 968/2811 | 901/1407 | 301/468 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67663249 | C | A | missense_variant | MODERATE | HG02486.hp2 HG02976.hp1 |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0050 | 2 | 390 | 0.0051 | 0 | c.112 others(4): Show |
p.Trp others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 10/10 | 1556/2650 | 1124/1158 | 375/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67663250 | A | C | missense_variant | MODERATE | HG02486.hp2 HG02976.hp1 |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0050 | 2 | 390 | 0.0051 | 0 | c.112 others(4): Show |
p.Trp others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 10/10 | 1555/2650 | 1123/1158 | 375/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67663277 | T | C | missense_variant | MODERATE | HG02523.hp2 HG02647.hp2 HG02818.hp2 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012a0003c0003t0001g0021a0003c0003t0001g0033others(7): Show | 16 | 390 | 0.0410 | 0 | c.109 others(4): Show |
p.Thr others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 10/10 | 1528/2650 | 1096/1158 | 366/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67663291 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0003a0005others(13): Show | a0001c0001a0001c0007a0001c0009others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(168): Show | 336 | 390 | 0.8615 | 0 | c.108 others(4): Show |
p.His others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 10/10 | 1514/2650 | 1082/1158 | 361/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67663292 | G | A | missense_variant | MODERATE | HG00738.hp1 | a0015 | a0015c0023 | a0015c0023t0001 | a0015c0023t0001g0162 | 1 | 390 | 0.0026 | 0 | c.108 others(4): Show |
p.His others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 10/10 | 1513/2650 | 1081/1158 | 361/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67663729 | G | T | missense_variant | MODERATE | HG02486.hp2 HG02976.hp1 NA18942.hp2 others(5): Show |
a0007a0011 | a0007c0008a0011c0016 | a0007c0008t0001a0011c0016t0006 | a0007c0008t0001g0029a0007c0008t0001g0061a0007c0008t0001g0063others(3): Show | 8 | 390 | 0.0205 | 0 | c.906 others(3): Show |
p.Ser others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 9/10 | 1338/2650 | 906/1158 | 302/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67664443 | G | A | missense_variant | MODERATE | HG00280.hp2 HG00423.hp2 HG00642.hp2 others(34): Show |
a0002a0021 | a0002c0002a0021c0027 | a0002c0002t0002a0002c0002t0019a0002c0002t0021others(4): Show | a0002c0002t0002g0016a0002c0002t0002g0017a0002c0002t0002g0027others(23): Show | 37 | 390 | 0.0949 | 0 | c.826 others(3): Show |
p.Arg others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 8/10 | 1258/2650 | 826/1158 | 276/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67664503 | C | T | missense_variant | MODERATE | HG00558.hp1 HG00621.hp1 NA18949.hp1 others(11): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0004a0005c0005t0001g0092a0005c0005t0001g0094others(3): Show | 14 | 390 | 0.0359 | 0 | c.766 others(3): Show |
p.Gly others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 8/10 | 1198/2650 | 766/1158 | 256/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67665320 | A | G | missense_variant | MODERATE | NA18975.hp2 NA18992.hp2 |
a0016a0021 | a0016c0021a0021c0027 | a0016c0021t0001a0021c0027t0002 | a0016c0021t0001g0149a0021c0027t0002g0174 | 2 | 390 | 0.0051 | 0 | c.671 others(3): Show |
p.Ile others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 7/10 | 1103/2650 | 671/1158 | 224/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67665327 | C | T | missense_variant | MODERATE | HG01123.hp1 HG03453.hp2 NA18906.hp1 |
a0010a0014 | a0010c0014a0014c0020 | a0010c0014t0016a0010c0014t0017a0014c0020t0001 | a0010c0014t0016g0084a0010c0014t0017g0083a0014c0020t0001g0108 | 3 | 390 | 0.0077 | 0 | c.664 others(3): Show |
p.Val others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 7/10 | 1096/2650 | 664/1158 | 222/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67665329 | C | T | missense_variant | MODERATE | HG01255.hp2 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0107 | 1 | 390 | 0.0026 | 0 | c.662 others(3): Show |
p.Arg others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 7/10 | 1094/2650 | 662/1158 | 221/385 | chr11 | TogoVar | ||
ALDH3B2_chr11_67657155_67679623 | 67665333 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(386): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0009others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(38): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(207): Show | 389 | 390 | 0.9974 | 0 | c.658 others(3): Show |
p.Ser others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 7/10 | 1090/2650 | 658/1158 | 220/385 | chr11 | TogoVar |