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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCC3_chr6_100503194_100886329 | 100597809 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19085.hp2 NA19088.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0013 a0002c0003t0002g0016 |
2 | 138 | 0.0145 | 11 | c.530 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 34/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608398 | C | CTTATATA others(4): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0127 | 1 | 262 | 0.0038 | 11 | c.478 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608451 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0011 | a0011c0018 | a0011c0018t0002 | a0011c0018t0002g0005 | 1 | 269 | 0.0037 | 11 | c.478 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608462 | C | CCTTATAT others(4): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0018 | a0018c0017 | a0018c0017t0003 | a0018c0017t0003g0133 | 1 | 154 | 0.0065 | 11 | c.478 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608462 | C | CTTTATAT others(4): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0126 | 1 | 154 | 0.0065 | 11 | c.478 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608578 | A | ATATATAC others(4): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0161 | 1 | 312 | 0.0032 | 11 | c.478 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100677337 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show |
10 | 286 | 0.0350 | 11 | c.228 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 14/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100723902 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0187 | 1 | 293 | 0.0034 | 11 | c.190 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7104348 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0005a0001c0001t0014a0001c0002t0001others(3): Show | a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0267 others(13): Show |
18 | 108 | 0.1667 | 11 | c.649 others(28): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
ASIC1_chr12_50052596_50088611 | 50071266 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0125 a0001c0007t0001g0126 |
2 | 230 | 0.0087 | 11 | c.559 others(28): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50085289 | C | CGGGCGCT others(4): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 NA18981.hp1 NA19011.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0002a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0002t0002g0047 others(1): Show |
4 | 322 | 0.0124 | 11 | c.*36 others(22): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 1679 | chr12 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33032440 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0214 | 1 | 59 | 0.0169 | 11 | c.988 others(28): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34269946 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG02559.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0041 a0001c0001t0002g0184 |
4 | 35 | 0.1143 | 11 | c.*77 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 603 | chr20 | TogoVar | |||||||
ASNS_chr7_97846677_97877408 | 97862691 | A | AGGGAGGG others(4): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 434 | 0.0023 | 11 | c.487 others(28): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ASPDH_chr19_50506603_50518913 | 50510051 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01934.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show |
11 | 93 | 0.1183 | 11 | c.*16 others(22): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 1551 | chr19 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26443634 | A | AAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | NA18951.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0069 a0001c0001t0022g0138 |
2 | 404 | 0.0050 | 11 | c.*43 others(20): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 4/4 | 432 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61523664 | T | TATTTTCT others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0115 |
2 | 256 | 0.0078 | 11 | c.190 others(30): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 22/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61617604 | A | AAGCACAA others(4): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 256 | 0.0039 | 11 | c.976 others(28): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197148333 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00741.hp2 others(11): Show |
a0002a0010a0014others(1): Show | a0002c0002a0010c0009a0014c0023others(1): Show | a0002c0002t0001a0010c0009t0006a0014c0023t0001others(1): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show |
14 | 41 | 0.3415 | 11 | c.-18 others(22): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1665 | chr1 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 81984831 | C | CACACACC others(4): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0177 | 1 | 364 | 0.0027 | 11 | c.274 others(26): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362585 | A | ACATATAT others(4): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18939.hp2 |
a0001 | a0001c0005 | a0001c0005t0040a0001c0005t0041 | a0001c0005t0040g0309 a0001c0005t0041g0308 |
2 | 281 | 0.0071 | 11 | c.491 others(28): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362813 | T | TAACACAC others(4): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0147 | 1 | 26 | 0.0385 | 11 | c.491 others(28): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62375481 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0065 | 1 | 366 | 0.0027 | 11 | c.492 others(30): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62383602 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03017.hp2 NA18971.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0025 | a0001c0001t0003g0013 a0001c0001t0003g0137 a0001c0001t0003g0160 others(4): Show |
7 | 96 | 0.0729 | 11 | c.492 others(28): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130455128 | T | TCATCCAT others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02055.hp2 HG02109.hp2 others(22): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0011 | a0001c0001t0001a0001c0003t0001a0007c0011t0001 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0138 others(21): Show |
25 | 372 | 0.0672 | 11 | c.174 others(26): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176922556 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0046 |
2 | 26 | 0.0769 | 11 | c.267 others(32): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177149485 | A | AATATATA others(4): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0105 | 1 | 56 | 0.0179 | 11 | c.283 others(30): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177149509 | A | AATATATA others(4): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG03225.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0008a0002c0011others(1): Show | a0001c0001t0001a0002c0008t0003a0002c0011t0009others(1): Show | a0001c0001t0001g0058 a0002c0008t0003g0059 a0002c0011t0009g0040 others(1): Show |
4 | 103 | 0.0388 | 11 | c.283 others(30): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116439194 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0016 | a0003c0016t0004 | a0003c0016t0004g0027 | 1 | 41 | 0.0244 | 11 | c.378 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 22/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116557223 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0078 | 1 | 31 | 0.0323 | 11 | c.335 others(32): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116597299 | A | ATTTTTGT others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01169.hp2 HG01243.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0002t0001others(8): Show | a0001c0001t0004g0059 a0001c0001t0005g0096 a0001c0002t0001g0042 others(11): Show |
14 | 52 | 0.2692 | 11 | c.335 others(32): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116632205 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01934.hp1 HG02886.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0003t0004others(2): Show | a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0004g0043 others(4): Show |
7 | 37 | 0.1892 | 11 | c.307 others(32): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116775775 | A | AAGGAGGG others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01261.hp2 others(12): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0099 a0001c0001t0002g0070 a0001c0001t0005g0077 others(12): Show |
15 | 99 | 0.1515 | 11 | c.239 others(32): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116775778 | G | GAGGGAAG others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0073 | 1 | 100 | 0.0100 | 11 | c.239 others(32): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116790955 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 87 | 0.0115 | 11 | c.239 others(32): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116803522 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0073 | 1 | 81 | 0.0123 | 11 | c.239 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116803522 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0017 | 1 | 81 | 0.0123 | 11 | 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(4): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02004.hp1 HG03017.hp2 others(2): Show |
a0001 | a0001c0002a0001c0023 | a0001c0002t0001a0001c0002t0003a0001c0002t0008others(2): Show | a0001c0002t0001g0067 a0001c0002t0003g0021 a0001c0002t0008g0024 others(2): Show |
5 | 24 | 0.2083 | 11 | c.220 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 12/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116815815 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0075 | 1 | 100 | 0.0100 | 11 | c.220 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 12/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116815816 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 95 | 0.0105 | 11 | c.220 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 12/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016658 | C | CATATATA others(4): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02698.hp2 HG04199.hp2 |
a0001a0006 | a0001c0001a0006c0020 | a0001c0001t0003a0001c0001t0008a0006c0020t0001 | a0001c0001t0003g0090 a0001c0001t0008g0064 a0006c0020t0001g0039 |
3 | 45 | 0.0667 | 11 | c.142 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117048963 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03540.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0005a0001c0009t0008 | a0001c0001t0005g0096 a0001c0009t0008g0088 |
2 | 34 | 0.0588 | 11 | c.127 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117128371 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0001 | 1 | 6 | 0.1667 | 11 | c.116 others(32): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117144660 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 | 1 | 5 | 0.2000 | 11 | c.101 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117215472 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(86): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0095 others(86): Show |
89 | 95 | 0.9368 | 11 | c.631 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32379161 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0106 | 1 | 22 | 0.0455 | 11 | c.252 others(30): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32411031 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0187 a0001c0005t0001g0276 |
2 | 259 | 0.0077 | 11 | c.253 others(30): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33652603 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02559.hp1 others(19): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0025 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0072 others(18): Show |
22 | 100 | 0.2200 | 11 | c.355 others(28): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23792962 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0117 |
2 | 65 | 0.0308 | 11 | c.264 others(30): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23805795 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG02257.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0006c0012t0001 | a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0205 others(1): Show |
4 | 110 | 0.0364 | 11 | c.245 others(30): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 18/27 | chr2 | TogoVar |