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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXD1_chr15_41177728_41235757 | 41191438 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(314): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(312): Show | 317 | 318 | 0.9969 | 0 | c.864 others(5): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
EXD1_chr15_41177728_41235757 | 41191442 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01243.hp1 HG02145.hp2 others(5): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0001a0002c0004t0001g0006a0002c0004t0001g0083others(4): Show | 8 | 318 | 0.0252 | 0 | c.864 others(3): Show |
p.Gln others(6): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 10/12 | 1196/3254 | 864/1719 | 288/572 | chr15 | TogoVar | ||
EXD1_chr15_41177728_41235757 | 41215839 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(82): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(81): Show | 85 | 318 | 0.2673 | 0 | c.389 others(5): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 5/11 | chr15 | TogoVar | ||||||
EXD1_chr15_41177728_41235757 | 41217090 | T | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(184): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(182): Show | 187 | 318 | 0.5881 | 0 | c.260 others(5): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 4/11 | chr15 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69229075 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0035others(152): Show | 164 | 234 | 0.7009 | 0 | c.590 others(5): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 4/9 | chr14 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69230468 | T | C | splice_region_variant others(1): Show |
LOW | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 234 | 0.0043 | 0 | c.591 others(5): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 4/9 | chr14 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137354695 | C | T | splice_region_variant others(1): Show |
LOW | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 82 | 0.0122 | 0 | c.831 others(5): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 9/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137356366 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(69): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0031a0002c0002others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0031t0001others(28): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0016others(69): Show | 72 | 82 | 0.8781 | 0 | c.659 others(3): Show |
p.Arg others(6): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/22 | 755/2781 | 659/2631 | 220/876 | chr9 | TogoVar | ||
EXO1_chr1_241843204_241894939 | 241848723 | T | G | splice_region_variant others(1): Show |
LOW | NA19240.hp1 | a0012 | a0012c0014 | a0012c0014t0013 | a0012c0014t0013g0046 | 1 | 416 | 0.0024 | 0 | c.-41 others(6): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
EXO1_chr1_241843204_241894939 | 241848731 | G | A | splice_region_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
a0001a0002a0004others(27): Show | a0001c0001a0002c0002a0002c0041others(31): Show | a0001c0001t0002a0001c0001t0006a0002c0002t0001others(52): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0010others(216): Show | 280 | 416 | 0.6731 | 0 | c.-41 others(4): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 2/16 | chr1 | TogoVar | ||||||
EXO1_chr1_241843204_241894939 | 241849106 | C | T | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02559.hp1 HG02622.hp1 others(7): Show |
a0005a0008a0009others(1): Show | a0005c0005a0008c0007a0009c0010others(2): Show | a0005c0005t0011a0005c0005t0016a0008c0007t0011others(3): Show | a0005c0005t0011g0291a0005c0005t0011g0292a0005c0005t0016g0294others(6): Show | 10 | 416 | 0.0240 | 0 | c.-12 others(6): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
EXO1_chr1_241843204_241894939 | 241852289 | T | C | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02559.hp1 HG02622.hp1 others(7): Show |
a0005a0008a0009others(1): Show | a0005c0005a0008c0007a0009c0010others(2): Show | a0005c0005t0011a0005c0005t0016a0008c0007t0011others(3): Show | a0005c0005t0011g0291a0005c0005t0011g0292a0005c0005t0016g0294others(6): Show | 10 | 416 | 0.0240 | 0 | c.162 others(5): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 4/15 | chr1 | TogoVar | ||||||
EXO1_chr1_241843204_241894939 | 241858508 | A | G | splice_region_variant others(1): Show |
LOW | HG02717.hp2 | a0018 | a0018c0048 | a0018c0048t0024 | a0018c0048t0024g0048 | 1 | 416 | 0.0024 | 0 | c.546 others(3): Show |
p.Val others(6): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 8/16 | 1115/3449 | 546/2541 | 182/846 | chr1 | TogoVar | ||
EXO1_chr1_241843204_241894939 | 241872032 | C | A | missense_variant others(1): Show |
MODERATE | HG02572.hp1 | a0030 | a0030c0030 | a0030c0030t0013 | a0030c0030t0013g0081 | 1 | 416 | 0.0024 | 0 | c.126 others(4): Show |
p.Ala others(6): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 12/16 | 1837/3449 | 1268/2541 | 423/846 | chr1 | TogoVar | ||
EXO5_chr1_40503767_40521038 | 40510988 | CACTTTGG others(6405): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG02074.hp1 | a0000 | a0000c0000 | a0000c0000t0008 | a0000c0000t0008g0031 | 1 | 406 | 0.0025 | -6412 | c.-31 others(14): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
EXOC1_chr4_55848648_55910086 | 55858307 | T | C | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 376 | 0.0027 | 0 | c.-10 others(5): Show |
EXOC1 | ENSG00000090989.18 | transcript | ENST00000381295.7 | protein_coding | 1/18 | chr4 | TogoVar | ||||||
EXOC1_chr4_55848648_55910086 | 55892631 | G | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 376 | 0.0027 | 0 | c.164 others(6): Show |
EXOC1 | ENSG00000090989.18 | transcript | ENST00000381295.7 | protein_coding | 13/18 | chr4 | TogoVar | ||||||
EXOC1_chr4_55848648_55910086 | 55899884 | T | C | splice_region_variant others(1): Show |
LOW | HG01346.hp2 HG01433.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011a0001c0003t0001g0096a0001c0003t0001g0097others(1): Show | 7 | 376 | 0.0186 | 0 | c.233 others(4): Show |
p.Asn others(6): Show |
EXOC1 | ENSG00000090989.18 | transcript | ENST00000381295.7 | protein_coding | 17/19 | 2653/3592 | 2337/2685 | 779/894 | chr4 | TogoVar | ||
EXOC1_chr4_55848648_55910086 | 55899892 | T | C | splice_region_variant others(1): Show |
LOW | NA18946.hp2 NA18956.hp2 NA18960.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037a0001c0002t0002g0176a0001c0002t0002g0177others(4): Show | 8 | 376 | 0.0213 | 0 | c.233 others(6): Show |
EXOC1 | ENSG00000090989.18 | transcript | ENST00000381295.7 | protein_coding | 17/18 | chr4 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 553928 | T | C | splice_region_variant others(1): Show |
LOW | HG02135.hp2 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0010 | a0001c0002t0001g0030a0001c0002t0010g0035 | 2 | 272 | 0.0074 | 0 | c.205 others(6): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 20/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 599232 | TAA | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02109.hp2 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0199a0001c0001t0003g0067a0001c0001t0003g0084others(3): Show | 6 | 272 | 0.0221 | -2 | c.743 others(13): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
EXOC3L1_chr16_67179379_67195136 | 67186353 | A | G | splice_region_variant others(1): Show |
LOW | HG01361.hp1 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028a0002c0002t0001g0032 | 2 | 314 | 0.0064 | 0 | c.138 others(6): Show |
EXOC3L1 | ENSG00000179044.16 | transcript | ENST00000314586.11 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
EXOC3L1_chr16_67179379_67195136 | 67186554 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00438.hp2 HG00738.hp2 others(64): Show |
a0002a0006a0008 | a0002c0002a0002c0003a0002c0006others(2): Show | a0002c0002t0001a0002c0003t0001a0002c0003t0002others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0021others(16): Show | 67 | 314 | 0.2134 | 0 | c.138 others(6): Show |
EXOC3L1 | ENSG00000179044.16 | transcript | ENST00000314586.11 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
EXOC3L2_chr19_45207370_45250407 | 45228081 | G | C | splice_region_variant others(1): Show |
LOW | HG02809.hp2 HG02970.hp2 HG03195.hp2 others(2): Show |
a0001a0004 | a0001c0012a0004c0020 | a0001c0012t0001a0001c0012t0002a0004c0020t0004 | a0001c0012t0001g0014a0001c0012t0001g0015a0001c0012t0001g0016others(2): Show | 5 | 356 | 0.0140 | 0 | c.137 others(6): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
EXOC3L2_chr19_45207370_45250407 | 45228273 | T | C | splice_region_variant others(1): Show |
LOW | HG01074.hp2 HG02145.hp1 HG02258.hp2 others(6): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0013a0003c0005t0001a0003c0005t0005 | a0001c0002t0013g0283a0003c0005t0001g0295a0003c0005t0001g0331others(6): Show | 9 | 356 | 0.0253 | 0 | c.127 others(6): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103110032 | C | T | missense_variant others(1): Show |
MODERATE | NA18939.hp1 NA19001.hp2 |
a0035a0036 | a0035c0060a0036c0059 | a0035c0060t0001a0036c0059t0003 | a0035c0060t0001g0206a0036c0059t0003g0205 | 2 | 404 | 0.0050 | 0 | c.197 others(4): Show |
p.Arg others(6): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 12/12 | 2110/2637 | 1978/2169 | 660/722 | chr14 | TogoVar | ||
EXOC3_chr5_438176_472290 | 446143 | C | A | splice_region_variant others(1): Show |
LOW | HG02895.hp2 HG02970.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0005a0001c0006t0018 | a0001c0006t0005g0088a0001c0006t0005g0089a0001c0006t0018g0041 | 4 | 418 | 0.0096 | 0 | c.-56 others(5): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133374828 | G | A | splice_region_variant others(1): Show |
LOW | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0081 | 1 | 102 | 0.0098 | 0 | c.100 others(4): Show |
p.Arg others(6): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 7/18 | 1032/4182 | 1008/2925 | 336/974 | chr7 | TogoVar | ||
EXOC5_chr14_57195507_57273905 | 57246704 | C | T | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG00609.hp1 HG00642.hp2 others(98): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0003 | a0001c0002t0002a0001c0002t0005a0001c0002t0006others(32): Show | a0001c0002t0002g0001a0001c0002t0002g0065a0001c0002t0002g0066others(90): Show | 101 | 214 | 0.4720 | 0 | c.270 others(5): Show |
EXOC5 | ENSG00000070367.17 | transcript | ENST00000621441.5 | protein_coding | 3/17 | chr14 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72514630 | C | A | splice_region_variant others(1): Show |
LOW | HG02976.hp1 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0101a0001c0002t0005g0102 | 2 | 104 | 0.0192 | 0 | c.104 others(6): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 10/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72575489 | T | C | splice_region_variant others(1): Show |
LOW | HG03130.hp1 NA18906.hp1 NA20129.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0013 | a0001c0002t0001g0006a0001c0002t0001g0007a0002c0004t0013g0005 | 3 | 104 | 0.0289 | 0 | c.846 others(5): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 7/21 | chr2 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92948383 | C | G | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02615.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0278a0001c0001t0006g0279a0001c0001t0006g0280others(1): Show | 4 | 288 | 0.0139 | 0 | c.141 others(6): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 14/21 | chr10 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76083757 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(196): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(158): Show | 199 | 366 | 0.5437 | 0 | c.195 others(6): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 18/18 | chr17 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76084000 | C | G | splice_region_variant others(1): Show |
LOW | HG02895.hp1 HG02896.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0026 | a0001c0002t0006g0044a0001c0002t0006g0263a0001c0002t0026g0264 | 4 | 366 | 0.0109 | 0 | c.195 others(6): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 18/18 | chr17 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76088931 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(178): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(143): Show | 181 | 366 | 0.4945 | 0 | c.104 others(6): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 8/18 | chr17 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76098024 | C | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(178): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(143): Show | 181 | 366 | 0.4945 | 0 | c.418 others(5): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 4/18 | chr17 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76101867 | C | T | splice_region_variant others(1): Show |
LOW | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 366 | 0.0027 | 0 | c.127 others(5): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 2/18 | chr17 | TogoVar | ||||||
EXOC8_chr1_231327753_231342852 | 231332753 | T | A | splice_region_variant | LOW | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0000 | 1 | 388 | 0.0026 | 0 | c.*28 others(5): Show |
EXOC8 | ENSG00000116903.7 | transcript | ENST00000366645.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11066756 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 284 | 0.0035 | 0 | c.262 others(6): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 24/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11070893 | C | T | splice_region_variant others(1): Show |
LOW | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 284 | 0.0035 | 0 | c.231 others(6): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 21/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11073927 | C | T | splice_region_variant others(1): Show |
LOW | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 284 | 0.0035 | 0 | c.215 others(6): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 19/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11074228 | C | T | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG03516.hp1 NA18522.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0065a0001c0005t0001g0066a0001c0005t0001g0067 | 3 | 284 | 0.0106 | 0 | c.208 others(6): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 18/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11080553 | GAA | G | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG01123.hp1 HG01496.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0017a0001c0021others(4): Show | a0001c0002t0001a0001c0017t0001a0001c0021t0001others(4): Show | a0001c0002t0001g0025a0001c0002t0001g0083a0001c0002t0001g0085others(16): Show | 19 | 284 | 0.0669 | -2 | c.158 others(15): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11080766 | G | A | splice_region_variant others(1): Show |
LOW | HG01069.hp2 HG03490.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0039a0001c0008t0001g0045a0001c0008t0001g0052others(1): Show | 4 | 284 | 0.0141 | 0 | c.158 others(4): Show |
p.Tyr others(6): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 12/25 | 1622/2796 | 1584/2658 | 528/885 | chr1 | TogoVar | ||
EXOSC2_chr9_130688780_130709892 | 130700869 | T | C | splice_region_variant others(1): Show |
LOW | NA18947.hp2 NA18959.hp2 NA18966.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0037a0001c0002t0001g0084others(1): Show | 13 | 426 | 0.0305 | 0 | c.429 others(3): Show |
p.Ala others(6): Show |
EXOSC2 | ENSG00000130713.17 | transcript | ENST00000372358.10 | protein_coding | 6/9 | 441/2012 | 429/882 | 143/293 | chr9 | TogoVar | ||
EXOSC7_chr3_44971244_45016471 | 45007581 | G | A | splice_region_variant others(1): Show |
LOW | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 340 | 0.0029 | 0 | c.771 others(5): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 7/7 | chr3 | TogoVar | ||||||
EXOSC8_chr13_36995786_37014614 | 37002558 | A | T | splice_region_variant others(1): Show |
LOW | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 390 | 0.0026 | 0 | c.118 others(5): Show |
EXOSC8 | ENSG00000120699.14 | transcript | ENST00000389704.4 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
EXOSC8_chr13_36995786_37014614 | 37005922 | C | T | missense_variant others(1): Show |
MODERATE | HG03017.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0052 | 1 | 390 | 0.0026 | 0 | c.241 others(3): Show |
p.Pro others(5): Show |
EXOSC8 | ENSG00000120699.14 | transcript | ENST00000389704.4 | protein_coding | 6/11 | 261/1166 | 241/831 | 81/276 | chr13 | TogoVar | ||
EXOSC9_chr4_121796323_121822021 | 121802669 | T | G | splice_region_variant others(1): Show |
LOW | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 400 | 0.0025 | 0 | c.162 others(5): Show |
EXOSC9 | ENSG00000123737.13 | transcript | ENST00000243498.10 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118110073 | CCAGA | C | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0014a0001c0001t0027a0001c0001t0031others(4): Show | a0001c0001t0014g0007a0001c0001t0014g0009a0001c0001t0027g0003others(6): Show | 9 | 190 | 0.0474 | -4 | c.962 others(16): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar |