view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB13_chr10_5633867_5671595 | 5652026 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18942.hp1 NA18948.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0162 a0001c0001t0001g0208 others(6): Show |
9 | 162 | 0.0556 | 9 | c.232 others(24): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ASB16_chr17_44165704_44184084 | 44172727 | A | ATGATTCT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(237): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0011a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(106): Show |
240 | 360 | 0.6667 | 9 | c.569 others(24): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236188826 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG02559.hp1 HG02615.hp1 others(2): Show |
a0002a0003a0004 | a0002c0002a0003c0004a0004c0006 | a0002c0002t0006a0003c0004t0012a0004c0006t0008others(1): Show | a0002c0002t0006g0020 a0002c0002t0006g0021 a0003c0004t0012g0225 others(2): Show |
5 | 199 | 0.0251 | 9 | c.*60 others(20): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4632 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236246346 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02717.hp2 others(8): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(2): Show | a0001c0001t0001g0203 a0001c0003t0001g0011 a0001c0003t0001g0093 others(7): Show |
11 | 85 | 0.1294 | 9 | c.206 others(26): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ASB1_chr2_238421927_238457250 | 238438199 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(89): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0018 others(46): Show |
92 | 194 | 0.4742 | 9 | c.494 others(26): Show |
ASB1 | ENSG00000065802.12 | transcript | ENST00000264607.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95530105 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01261.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0016 | a0001c0001t0001g0185 a0001c0001t0001g0223 a0001c0001t0001g0245 others(3): Show |
6 | 161 | 0.0373 | 9 | c.978 others(26): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219593 | T | TATTTGTA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(19): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0003a0001c0002t0013a0001c0006t0003 | a0001c0002t0003g0002 a0001c0002t0003g0022 a0001c0002t0003g0046 others(14): Show |
22 | 321 | 0.0685 | 9 | c.670 others(26): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB7_chr15_100597589_100656701 | 100600551 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(78): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(68): Show |
81 | 125 | 0.6480 | 9 | c.-27 others(20): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 2037 | chr15 | TogoVar | |||||||
ASB7_chr15_100597589_100656701 | 100600551 | C | CCAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0119 a0001c0001t0002g0201 a0001c0001t0004g0120 others(3): Show |
6 | 50 | 0.1200 | 9 | c.-27 others(20): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 2037 | chr15 | TogoVar | |||||||
ASB8_chr12_48142789_48162515 | 48158545 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(73): Show |
133 | 168 | 0.7917 | 9 | c.-11 others(20): Show |
ASB8 | ENSG00000177981.11 | transcript | ENST00000317697.8 | protein_coding | 1031 | chr12 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72220325 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02895.hp1 HG02970.hp1 others(5): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0008others(1): Show | a0001c0001t0001a0003c0003t0002a0006c0008t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0146 a0001c0001t0001g0149 others(5): Show |
8 | 140 | 0.0571 | 9 | c.-41 others(20): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4050 | chr10 | TogoVar | |||||||
ASCC2_chr22_29783611_29843274 | 29838203 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0007a0001c0001t0009a0001c0011t0009 | a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0040 others(6): Show |
9 | 157 | 0.0573 | 9 | c.-52 others(16): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 1/20 | 5879 | chr22 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608258 | A | ATATATAC others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show |
10 | 312 | 0.0321 | 9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608386 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00741.hp2 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0004c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0290 a0001c0002t0002g0089 a0001c0002t0003g0127 others(11): Show |
14 | 312 | 0.0449 | 9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608401 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00741.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0004c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0002c0003t0002others(2): Show | a0001c0002t0001g0290 a0001c0002t0002g0089 a0002c0003t0002g0019 others(10): Show |
13 | 255 | 0.0510 | 9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608608 | A | ATATATAC others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03516.hp1 others(2): Show |
a0001a0008a0017 | a0001c0006a0008c0012a0008c0025others(1): Show | a0001c0006t0005a0008c0012t0009a0008c0025t0017others(1): Show | a0001c0006t0005g0161 a0008c0012t0009g0312 a0008c0012t0009g0313 others(2): Show |
5 | 312 | 0.0160 | 9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608636 | A | ATATATAC others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02129.hp1 others(10): Show |
a0001a0008a0017 | a0001c0006a0008c0012a0008c0025others(1): Show | a0001c0006t0005a0008c0012t0009a0008c0025t0017others(1): Show | a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(10): Show |
13 | 312 | 0.0417 | 9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608664 | A | ATATATAC others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03516.hp1 others(1): Show |
a0008a0017 | a0008c0012a0008c0025a0017c0032 | a0008c0012t0009a0008c0025t0017a0017c0032t0019 | a0008c0012t0009g0312 a0008c0012t0009g0313 a0008c0025t0017g0227 others(1): Show |
4 | 308 | 0.0130 | 9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100723902 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02071.hp2 HG03831.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0004t0004g0180 others(2): Show |
5 | 297 | 0.0168 | 9 | c.190 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100727649 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01192.hp1 HG02040.hp1 others(3): Show |
a0002a0003a0004 | a0002c0003a0003c0005a0004c0008 | a0002c0003t0002a0003c0005t0002a0004c0008t0003 | a0002c0003t0002g0006 a0002c0003t0002g0041 a0002c0003t0002g0068 others(3): Show |
6 | 229 | 0.0262 | 9 | c.173 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102958393 | C | CGCAGCAG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00558.hp1 HG00558.hp2 HG01257.hp1 others(37): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(3): Show | a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0004g0001 others(3): Show |
40 | 258 | 0.1550 | 9 | c.178 others(16): Show |
p.Gln others(11): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1/2 | 758/2481 | 187/711 | 63/236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ASCL4_chr12_107769704_107781644 | 107773043 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(7): Show |
46 | 200 | 0.2300 | 9 | c.-21 others(20): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 1660 | chr12 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7104348 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18964.hp2 NA18970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0103 a0001c0001t0003g0050 a0001c0001t0004g0301 others(4): Show |
8 | 98 | 0.0816 | 9 | c.649 others(26): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7118496 | G | GGAGGGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG02080.hp2 NA18943.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0020 a0001c0001t0004g0301 a0001c0001t0004g0302 others(10): Show |
13 | 430 | 0.0302 | 9 | c.-39 others(20): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3675 | chr17 | TogoVar | |||||||
ASIC1_chr12_50052596_50088611 | 50071266 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0028 a0001c0003t0001g0067 a0001c0003t0001g0068 others(5): Show |
9 | 237 | 0.0380 | 9 | c.559 others(26): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50086481 | G | GGTGGTGG others(2): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02572.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0001a0001c0004t0001a0001c0004t0006others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0049 others(8): Show |
14 | 322 | 0.0435 | 9 | c.*48 others(20): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 2871 | chr12 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1619549 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0117 a0001c0001t0001g0205 others(6): Show |
9 | 91 | 0.0989 | 9 | c.70- others(24): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1619587 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0073 a0001c0001t0001g0214 |
3 | 221 | 0.0136 | 9 | c.70- others(24): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1619591 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG02818.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0072 a0001c0001t0001g0122 others(4): Show |
7 | 221 | 0.0317 | 9 | c.70- others(24): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1644219 | T | TTTATTAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01071.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0061 others(17): Show |
21 | 57 | 0.3684 | 9 | c.*12 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | |||||||
ASPA_chr17_3470997_3508405 | 3490306 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18747.hp1 NA18948.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0009 a0001c0001t0001g0071 a0001c0001t0001g0153 others(3): Show |
9 | 448 | 0.0201 | 9 | c.634 others(24): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
ASPDH_chr19_50506603_50518913 | 50510051 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(137): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0001a0001c0005t0001a0001c0008t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(11): Show |
140 | 222 | 0.6306 | 9 | c.*16 others(20): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 1551 | chr19 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61706457 | G | GGAAGAGG others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0002 | a0001c0001t0001g0193 a0001c0001t0007g0191 a0001c0001t0007g0192 others(1): Show |
4 | 254 | 0.0157 | 9 | c.103 others(26): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPRV1_chr2_69955089_69966631 | 69956451 | G | GGAAGAAG others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02970.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0000 a0001c0001t0006g0000 |
3 | 290 | 0.0103 | 9 | c.*42 others(20): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 3637 | chr2 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116642132 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp2 |
a0001 | a0001c0014a0001c0025 | a0001c0014t0017a0001c0025t0001 | a0001c0014t0017g0049 a0001c0025t0001g0080 |
2 | 25 | 0.0800 | 9 | c.307 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116790970 | A | AAGAAAGA others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01884.hp2 HG03017.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0021others(2): Show | a0001c0001t0001a0001c0002t0004a0001c0021t0006others(2): Show | a0001c0001t0001g0053 a0001c0002t0004g0043 a0001c0021t0006g0055 others(2): Show |
5 | 95 | 0.0526 | 9 | c.239 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116790974 | A | AAGAAAGA others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 NA19010.hp2 |
a0001a0007 | a0001c0005a0007c0015 | a0001c0005t0005a0007c0015t0003 | a0001c0005t0005g0076 a0007c0015t0003g0019 |
2 | 97 | 0.0206 | 9 | c.239 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116815804 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01169.hp2 HG01256.hp2 others(9): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0021others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0036 a0001c0002t0001g0056 a0001c0002t0002g0023 others(9): Show |
12 | 31 | 0.3871 | 9 | c.220 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 12/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116815816 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0007others(1): Show | a0001c0001t0001g0028 a0001c0002t0001g0033 a0001c0003t0007g0071 others(1): Show |
4 | 98 | 0.0408 | 9 | c.220 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 12/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116941167 | A | AACTGAGG others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01099.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0028 a0001c0001t0003g0013 a0001c0001t0004g0059 others(28): Show |
31 | 100 | 0.3100 | 9 | c.188 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016778 | A | ATATATAG others(2): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19011.hp2 NA19066.hp2 |
a0001 | a0001c0002a0001c0009a0001c0021 | a0001c0002t0002a0001c0009t0004a0001c0021t0006 | a0001c0002t0002g0058 a0001c0009t0004g0032 a0001c0021t0006g0055 |
3 | 75 | 0.0400 | 9 | c.142 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117048963 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02004.hp1 HG02109.hp2 others(1): Show |
a0001a0006 | a0001c0002a0001c0005a0001c0007others(1): Show | a0001c0002t0010a0001c0005t0005a0001c0007t0001others(1): Show | a0001c0002t0010g0063 a0001c0005t0005g0076 a0001c0007t0001g0010 others(1): Show |
4 | 36 | 0.1111 | 9 | c.127 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117192391 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0016a0001c0002t0002others(2): Show | a0001c0001t0003g0013 a0001c0001t0016g0075 a0001c0002t0002g0060 others(2): Show |
5 | 71 | 0.0704 | 9 | c.101 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117323356 | T | TACCACCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00735.hp1 others(49): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0053 others(49): Show |
52 | 100 | 0.5200 | 9 | c.443 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117346010 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0003t0007a0001c0008t0005others(1): Show | a0001c0001t0002g0070 a0001c0003t0007g0071 a0001c0008t0005g0073 others(1): Show |
4 | 46 | 0.0870 | 9 | c.443 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117414968 | C | CGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0012 | a0001c0001t0011g0002 a0001c0003t0012g0001 |
2 | 100 | 0.0200 | 9 | c.-39 others(16): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/23 | 31 | chr9 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32401544 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03098.hp2 HG03225.hp1 others(2): Show |
a0006 | a0006c0007 | a0006c0007t0001a0006c0007t0004 | a0006c0007t0001g0046 a0006c0007t0001g0047 a0006c0007t0001g0048 others(2): Show |
5 | 19 | 0.2632 | 9 | c.253 others(28): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32401544 | G | GTGTGTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0001a0001c0008t0004 | a0001c0008t0001g0082 a0001c0008t0001g0084 a0001c0008t0001g0085 others(1): Show |
4 | 18 | 0.2222 | 9 | c.253 others(28): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25856363 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG02109.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0012a0001c0001t0025others(2): Show | a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0100 others(9): Show |
12 | 55 | 0.2182 | 9 | c.58- others(26): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33578458 | C | CCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0076 a0001c0001t0001g0175 a0001c0001t0005g0035 |
3 | 45 | 0.0667 | 9 | c.-14 others(18): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/12 | 132 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |