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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASPH_chr8_61495556_61719592 | 61583945 | C | A | missense_variant others(1): Show |
MODERATE | NA18906.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0152 | 1 | 258 | 0.0039 | 0 | c.106 others(4): Show |
p.Arg others(6): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 15/25 | 1282/5301 | 1061/2277 | 354/758 | chr8 | TogoVar | ||
ASPH_chr8_61495556_61719592 | 61638365 | T | TA | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00621.hp2 HG00735.hp2 others(75): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0031others(75): Show | 78 | 258 | 0.3023 | 1 | c.791 others(6): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 10/24 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197084431 | T | TA | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00423.hp1 HG00639.hp2 others(74): Show |
a0001a0002a0003others(7): Show | a0001c0004a0001c0039a0002c0002others(9): Show | a0001c0004t0002a0001c0039t0001a0002c0002t0001others(10): Show | a0001c0004t0002g0052a0001c0039t0001g0172a0002c0002t0001g0003others(52): Show | 77 | 296 | 0.2601 | 1 | c.103 others(8): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 27/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197086795 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0003a0001c0008others(34): Show | a0001c0001t0001a0001c0001t0009a0001c0003t0001others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(164): Show | 237 | 296 | 0.8007 | 0 | c.103 others(7): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 27/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197086979 | A | T | splice_region_variant others(1): Show |
LOW | HG02896.hp1 HG02897.hp1 HG02965.hp1 others(1): Show |
a0013a0014 | a0013c0025a0014c0024 | a0013c0025t0004a0014c0024t0004 | a0013c0025t0004g0022a0014c0024t0004g0090a0014c0024t0004g0091 | 4 | 296 | 0.0135 | 0 | c.101 others(7): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 26/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197100424 | G | C | splice_region_variant others(1): Show |
LOW | HG03540.hp1 | a0028 | a0028c0032 | a0028c0032t0002 | a0028c0032t0002g0085 | 1 | 296 | 0.0034 | 0 | c.882 others(6): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 18/27 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197122305 | T | C | splice_region_variant others(1): Show |
LOW | HG03098.hp2 HG03130.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0034 | 2 | 296 | 0.0068 | 0 | c.359 others(6): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 14/27 | chr1 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 81983668 | G | T | missense_variant others(1): Show |
MODERATE | HG00741.hp1 HG01975.hp1 NA18998.hp1 others(1): Show |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0006a0006c0011t0001g0040a0006c0011t0001g0098 | 4 | 366 | 0.0109 | 0 | c.273 others(3): Show |
p.Met others(5): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 3/16 | 291/1764 | 273/1662 | 91/553 | chr17 | TogoVar | ||
ASPSCR1_chr17_81972629_82022406 | 81996415 | C | T | splice_region_variant others(1): Show |
LOW | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0295 | 1 | 366 | 0.0027 | 0 | c.507 others(5): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 6/15 | chr17 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82016471 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0088 | 1 | 366 | 0.0027 | 0 | c.135 others(6): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 12/15 | chr17 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82016477 | C | T | missense_variant others(1): Show |
MODERATE | HG03139.hp1 | a0009 | a0009c0023 | a0009c0023t0001 | a0009c0023t0001g0132 | 1 | 366 | 0.0027 | 0 | c.135 others(4): Show |
p.Ala others(6): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 13/16 | 1373/1764 | 1355/1662 | 452/553 | chr17 | TogoVar | ||
ASPSCR1_chr17_81972629_82022406 | 82016794 | C | T | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02717.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0008a0001c0007t0001g0047a0001c0007t0001g0133others(2): Show | 7 | 366 | 0.0191 | 0 | c.140 others(6): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130444994 | C | G | splice_region_variant | LOW | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0306 | 1 | 374 | 0.0027 | 0 | c.-7C others(2): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/15 | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130452219 | G | A | splice_region_variant others(1): Show |
LOW | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 374 | 0.0027 | 0 | c.-5- others(4): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130458397 | G | A | splice_region_variant others(1): Show |
LOW | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 374 | 0.0027 | 0 | c.175 others(5): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 3/14 | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130464105 | T | C | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG02809.hp2 HG02818.hp2 others(5): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0001 | a0001c0001t0001g0018a0001c0001t0001g0139a0001c0001t0001g0149others(5): Show | 8 | 374 | 0.0214 | 0 | c.364 others(5): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 4/14 | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130470902 | C | T | splice_region_variant others(1): Show |
LOW | NA18964.hp2 NA19063.hp2 NA19065.hp2 |
a0001a0009 | a0001c0007a0009c0010 | a0001c0007t0001a0009c0010t0001 | a0001c0007t0001g0093a0001c0007t0001g0260a0009c0010t0001g0216 | 3 | 374 | 0.0080 | 0 | c.564 others(3): Show |
p.Ile others(6): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 7/15 | 604/1532 | 564/1239 | 188/412 | chr9 | TogoVar | ||
ASS1_chr9_130439961_130506274 | 130471523 | C | T | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01891.hp1 HG02258.hp1 others(12): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0168a0001c0001t0001g0206others(11): Show | 15 | 374 | 0.0401 | 0 | c.597 others(5): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 8/14 | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130476965 | T | C | splice_region_variant others(1): Show |
LOW | HG01496.hp1 HG02055.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0042a0001c0001t0001g0333others(4): Show | 8 | 374 | 0.0214 | 0 | c.688 others(5): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 9/14 | chr9 | TogoVar | ||||||
ASTL_chr2_96117818_96143502 | 96129820 | T | A | splice_region_variant others(1): Show |
LOW | HG01099.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0131 | 1 | 396 | 0.0025 | 0 | c.874 others(5): Show |
ASTL | ENSG00000188886.4 | transcript | ENST00000342380.3 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
ASTL_chr2_96117818_96143502 | 96129826 | C | T | missense_variant others(1): Show |
MODERATE | NA18906.hp1 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0082 | 1 | 396 | 0.0025 | 0 | c.872 others(3): Show |
p.Arg others(6): Show |
ASTL | ENSG00000188886.4 | transcript | ENST00000342380.3 | protein_coding | 8/9 | 938/2394 | 872/1296 | 291/431 | chr2 | TogoVar | ||
ASTN1_chr1_176856067_177169712 | 176888211 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(83): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(83): Show | 86 | 112 | 0.7679 | 0 | c.294 others(6): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 17/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116651797 | G | A | splice_region_variant others(1): Show |
LOW | HG02698.hp2 HG03017.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0008a0001c0002t0008a0001c0009t0008others(1): Show | a0001c0001t0008g0008a0001c0001t0008g0065a0001c0002t0008g0024others(2): Show | 5 | 102 | 0.0490 | 0 | c.280 others(6): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116729099 | G | A | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG01243.hp2 HG02922.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0003t0006a0001c0003t0007others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0095a0001c0003t0006g0026others(4): Show | 7 | 102 | 0.0686 | 0 | c.252 others(6): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 14/22 | chr9 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25744479 | G | A | splice_region_variant others(1): Show |
LOW | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 222 | 0.0045 | 0 | c.186 others(6): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25771543 | A | AG | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(57): Show |
a0001a0002a0009 | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(13): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(57): Show | 60 | 222 | 0.2703 | 1 | c.404 others(6): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123357740 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp2 NA21309.hp2 |
a0003 | a0003c0002 | a0003c0002t0006a0003c0002t0010 | a0003c0002t0006g0016a0003c0002t0010g0125 | 2 | 278 | 0.0072 | 0 | c.138 others(6): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 11/27 | chr8 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123361534 | C | A | splice_region_variant others(1): Show |
LOW | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 278 | 0.0036 | 0 | c.115 others(6): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 9/27 | chr8 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123371672 | A | C | splice_region_variant others(1): Show |
LOW | NA20905.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0019 | 1 | 278 | 0.0036 | 0 | c.534 others(3): Show |
p.Thr others(6): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 4/28 | 624/5547 | 534/4173 | 178/1390 | chr8 | TogoVar | ||
ATAD3A_chr1_1507162_1539685 | 1522905 | A | G | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(157): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0031a0001c0003t0001others(25): Show | a0001c0001t0001g0152a0001c0001t0001g0157a0001c0001t0001g0158others(143): Show | 160 | 420 | 0.3810 | 0 | c.906 others(5): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 8/15 | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1523574 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(105): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0004a0001c0023others(4): Show | a0001c0003t0015a0001c0003t0018a0001c0004t0001others(8): Show | a0001c0003t0015g0337a0001c0003t0015g0338a0001c0003t0018g0336others(95): Show | 108 | 420 | 0.2571 | 0 | c.963 others(5): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 9/15 | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1523972 | C | T | splice_region_variant others(1): Show |
LOW | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0291 | 1 | 420 | 0.0024 | 0 | c.108 others(6): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1525234 | T | C | splice_region_variant others(1): Show |
LOW | HG02559.hp2 HG03225.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0018 | a0001c0003t0001g0319a0001c0003t0001g0326a0001c0003t0001g0349others(1): Show | 4 | 420 | 0.0095 | 0 | c.121 others(6): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 11/15 | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1526453 | C | G | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG02809.hp2 HG03130.hp1 others(2): Show |
a0005a0006 | a0005c0009a0006c0017 | a0005c0009t0008a0006c0017t0008 | a0005c0009t0008g0045a0005c0009t0008g0046a0005c0009t0008g0047others(1): Show | 5 | 420 | 0.0119 | 0 | c.126 others(6): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 12/15 | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1526531 | A | T | missense_variant others(1): Show |
MODERATE | HG02896.hp1 HG02897.hp2 |
a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0321a0009c0013t0001g0323 | 2 | 420 | 0.0048 | 0 | c.133 others(4): Show |
p.Lys others(6): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 13/16 | 1444/2481 | 1337/1761 | 446/586 | chr1 | TogoVar | ||
ATAD3A_chr1_1507162_1539685 | 1533918 | C | T | splice_region_variant others(1): Show |
LOW | HG01943.hp2 HG01975.hp1 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0007 | a0001c0003t0004g0021a0001c0003t0007g0021 | 2 | 420 | 0.0048 | 0 | c.161 others(6): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 15/15 | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1533919 | C | T | splice_region_variant others(1): Show |
LOW | HG01943.hp2 HG01975.hp1 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0007 | a0001c0003t0004g0021a0001c0003t0007g0021 | 2 | 420 | 0.0048 | 0 | c.161 others(6): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 15/15 | chr1 | TogoVar | ||||||
ATAD3B_chr1_1466765_1502848 | 1480855 | GCTT | G | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG01255.hp1 HG01258.hp1 others(8): Show |
a0001a0011 | a0001c0003a0011c0020 | a0001c0003t0003a0011c0020t0003 | a0001c0003t0003g0004a0001c0003t0003g0142a0001c0003t0003g0154others(2): Show | 11 | 276 | 0.0399 | -3 | c.445 others(14): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATAD3B_chr1_1466765_1502848 | 1482547 | C | T | missense_variant others(1): Show |
MODERATE | HG01123.hp2 | a0025 | a0025c0035 | a0025c0035t0028 | a0025c0035t0028g0081 | 1 | 276 | 0.0036 | 0 | c.683 others(3): Show |
p.Thr others(6): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 7/16 | 803/4098 | 683/1947 | 228/648 | chr1 | TogoVar | ||
ATAD3B_chr1_1466765_1502848 | 1482614 | G | A | splice_region_variant others(1): Show |
LOW | HG03017.hp1 | a0018 | a0018c0038 | a0018c0038t0003 | a0018c0038t0003g0143 | 1 | 276 | 0.0036 | 0 | c.750 others(3): Show |
p.Thr others(6): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 7/16 | 870/4098 | 750/1947 | 250/648 | chr1 | TogoVar | ||
ATAD3B_chr1_1466765_1502848 | 1485777 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02572.hp1 |
a0008 | a0008c0012 | a0008c0012t0011 | a0008c0012t0011g0188a0008c0012t0011g0189 | 2 | 276 | 0.0073 | 0 | c.907 others(5): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 8/15 | chr1 | TogoVar | ||||||
ATAD3B_chr1_1466765_1502848 | 1486243 | C | T | splice_region_variant others(1): Show |
LOW | HG02809.hp1 | a0002 | a0002c0021 | a0002c0021t0032 | a0002c0021t0032g0047 | 1 | 276 | 0.0036 | 0 | c.108 others(6): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
ATAD3B_chr1_1466765_1502848 | 1486536 | T | C | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG02071.hp2 HG03471.hp2 others(3): Show |
a0001a0002 | a0001c0008a0002c0002a0002c0004 | a0001c0008t0012a0001c0008t0027a0002c0002t0002others(1): Show | a0001c0008t0012g0096a0001c0008t0012g0098a0001c0008t0012g0100others(3): Show | 6 | 276 | 0.0217 | 0 | c.109 others(6): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
ATAD3B_chr1_1466765_1502848 | 1490670 | A | C | missense_variant others(1): Show |
MODERATE | HG03017.hp1 | a0018 | a0018c0038 | a0018c0038t0003 | a0018c0038t0003g0143 | 1 | 276 | 0.0036 | 0 | c.161 others(4): Show |
p.Gln others(6): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 15/16 | 1733/4098 | 1613/1947 | 538/648 | chr1 | TogoVar | ||
ATAD3B_chr1_1466765_1502848 | 1497594 | AGGTGGCT others(2679): Show |
A | splice_region_variant | LOW | HG02258.hp1 | a0024 | a0024c0036 | a0024c0036t0030 | a0024c0036t0030g0082 | 1 | 276 | 0.0036 | -2686 | c.*17 others(11): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 16/16 | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1452129 | G | A | splice_region_variant others(1): Show |
LOW | HG02015.hp2 | a0001 | a0001c0004 | a0001c0004t0052 | a0001c0004t0052g0143 | 1 | 410 | 0.0024 | 0 | c.152 others(5): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1452367 | C | T | missense_variant others(1): Show |
MODERATE | HG00642.hp1 | a0021 | a0021c0051 | a0021c0051t0065 | a0021c0051t0065g0321 | 1 | 410 | 0.0024 | 0 | c.155 others(3): Show |
p.Ala others(5): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 3/12 | 1150/3864 | 155/1236 | 52/411 | chr1 | TogoVar | ||
ATAD3C_chr1_1444689_1475163 | 1454506 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00639.hp1 HG01168.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0046a0002c0002others(1): Show | a0001c0001t0003a0001c0046t0047a0002c0002t0128others(13): Show | a0001c0001t0003g0243a0001c0046t0047g0234a0002c0002t0128g0083others(13): Show | 16 | 410 | 0.0390 | 0 | c.378 others(5): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1455785 | C | T | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0001 | a0001c0033 | a0001c0033t0131 | a0001c0033t0131g0139 | 1 | 410 | 0.0024 | 0 | c.439 others(5): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
ATAD3C_chr1_1444689_1475163 | 1455924 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(209): Show |
a0001a0002a0003others(13): Show | a0001c0003a0001c0004a0001c0005others(30): Show | a0001c0003t0046a0001c0004t0014a0001c0004t0017others(137): Show | a0001c0003t0046g0283a0001c0004t0014g0142a0001c0004t0014g0153others(200): Show | 212 | 410 | 0.5171 | 0 | c.564 others(5): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 6/11 | chr1 | TogoVar |