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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAK1_chr2_69452997_69648739 | 69505135 | CCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0006others(13): Show | a0001c0003t0008a0001c0003t0022a0001c0003t0026others(81): Show | a0001c0003t0008g0087 a0001c0003t0008g0090 a0001c0003t0008g0095 others(145): Show |
148 | 282 | 0.5248 | -2 | c.226 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69524863 | CTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02965.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0041a0004c0013t0039a0004c0013t0102 | a0001c0001t0041g0287 a0004c0013t0039g0284 a0004c0013t0102g0107 |
3 | 296 | 0.0101 | -2 | c.105 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69548552 | CTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02602.hp1 HG02622.hp2 others(14): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0008a0001c0003t0022a0001c0003t0026others(8): Show | a0001c0003t0008g0087 a0001c0003t0008g0095 a0001c0003t0008g0096 others(14): Show |
17 | 296 | 0.0574 | -2 | c.283 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69553437 | GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(78): Show | a0001c0001t0002g0023 a0001c0001t0002g0078 a0001c0001t0005g0213 others(144): Show |
147 | 206 | 0.7136 | -2 | c.282 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69557301 | CTT | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004 | a0001c0006a0003c0020a0004c0012 | a0001c0006t0028a0001c0006t0037a0001c0006t0038others(3): Show | a0001c0006t0028g0123 a0001c0006t0028g0132 a0001c0006t0037g0009 others(4): Show |
7 | 246 | 0.0285 | -2 | c.164 others(17): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69559262 | TCA | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01361.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0087a0001c0001t0100others(10): Show | a0001c0001t0001g0130 a0001c0001t0087g0164 a0001c0001t0100g0108 others(10): Show |
13 | 270 | 0.0481 | -2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69559298 | ACT | A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01934.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0059a0001c0006t0016a0002c0002t0003others(2): Show | a0001c0001t0059g0288 a0001c0006t0016g0017 a0001c0006t0016g0286 others(4): Show |
7 | 280 | 0.0250 | -2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69572620 | TAA | T | intron_variant | MODIFIER | HG02698.hp1 HG02809.hp2 HG02896.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0007a0002c0002 | a0001c0003t0076a0001c0007t0014a0001c0007t0021others(3): Show | a0001c0003t0076g0074 a0001c0007t0014g0271 a0001c0007t0021g0276 others(5): Show |
8 | 146 | 0.0548 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69574377 | CAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01167.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0074a0001c0004t0017others(7): Show | a0001c0001t0002g0021 a0001c0001t0002g0051 a0001c0001t0074g0053 others(10): Show |
13 | 110 | 0.1182 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69587330 | CAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02809.hp2 others(9): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0012a0001c0001t0021a0001c0006t0037others(7): Show | a0001c0001t0012g0059 a0001c0001t0021g0278 a0001c0006t0037g0009 others(9): Show |
12 | 296 | 0.0405 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69587382 | TAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(218): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(124): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0021 others(218): Show |
221 | 296 | 0.7466 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69587461 | GTA | G | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 NA18906.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0012a0001c0006t0016a0001c0006t0037others(2): Show | a0001c0001t0012g0059 a0001c0006t0016g0286 a0001c0006t0037g0009 others(2): Show |
5 | 293 | 0.0171 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69589325 | CAG | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(31): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(60): Show |
63 | 296 | 0.2128 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69597707 | CAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(47): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(79): Show |
82 | 187 | 0.4385 | -2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69599944 | ATT | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(31): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(59): Show |
62 | 272 | 0.2279 | -2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69607046 | CAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02559.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0002a0001c0001t0012a0001c0001t0069others(3): Show | a0001c0001t0002g0078 a0001c0001t0012g0073 a0001c0001t0012g0079 others(6): Show |
9 | 164 | 0.0549 | -2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69610050 | CAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(28): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(57): Show |
60 | 269 | 0.2230 | -2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69633599 | CAA | C | intron_variant | MODIFIER | HG01258.hp1 HG01884.hp2 HG01952.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0007a0001c0006t0037others(1): Show | a0001c0001t0005g0197 a0001c0001t0005g0259 a0001c0001t0005g0261 others(4): Show |
7 | 100 | 0.0700 | -2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69634825 | GTA | G | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(8): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0041a0001c0001t0054a0001c0001t0059others(6): Show | a0001c0001t0041g0287 a0001c0001t0054g0289 a0001c0001t0059g0288 others(8): Show |
11 | 296 | 0.0372 | -2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640014 | AAC | A | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG02451.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0001c0001t0012a0001c0001t0069others(6): Show | a0001c0001t0002g0078 a0001c0001t0012g0079 a0001c0001t0069g0055 others(8): Show |
11 | 195 | 0.0564 | -2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | TCC | T | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG01978.hp1 others(20): Show |
a0001a0002a0007 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0078others(14): Show | a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0078 others(20): Show |
23 | 51 | 0.4510 | -2 | c.-82 others(11): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77830987 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(106): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(102): Show |
109 | 200 | 0.5450 | -2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77831309 | CAT | C | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 a0001c0001t0001g0334 a0001c0001t0001g0335 |
3 | 378 | 0.0079 | -2 | c.-19 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATG | A | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp1 HG02040.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0211 others(10): Show |
13 | 141 | 0.0922 | -2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77840097 | AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(281): Show |
294 | 377 | 0.7798 | -2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77847172 | ACT | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 |
3 | 380 | 0.0079 | -2 | c.132 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77853993 | CTT | C | intron_variant | MODIFIER | HG01496.hp2 HG02647.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 a0001c0002t0002g0205 a0001c0002t0002g0342 others(3): Show |
6 | 93 | 0.0645 | -2 | c.132 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77858194 | ATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(109): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(107): Show |
112 | 193 | 0.5803 | -2 | c.133 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77870329 | ATT | A | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 others(6): Show |
9 | 262 | 0.0344 | -2 | c.228 others(17): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218268694 | CTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01069.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0052 |
9 | 205 | 0.0439 | -2 | c.274 others(17): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
AAMP_chr2_218259129_218275137 | 218272165 | TAA | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(134): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 others(12): Show |
137 | 398 | 0.3442 | -2 | c.-20 others(13): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2029 | chr2 | TogoVar | |||||||
AAMP_chr2_218259129_218275137 | 218273446 | GTT | G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01975.hp2 HG02055.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0003g0030 |
24 | 226 | 0.1062 | -2 | c.-33 others(13): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3310 | chr2 | TogoVar | |||||||
AAMP_chr2_218259129_218275137 | 218273647 | ATT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(134): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 others(12): Show |
137 | 391 | 0.3504 | -2 | c.-35 others(13): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3511 | chr2 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36232816 | CCT | C | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02109.hp2 HG02683.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0073 others(4): Show |
7 | 154 | 0.0455 | -2 | c.-37 others(13): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36242143 | CTT | C | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0075 a0001c0001t0001g0126 a0001c0002t0002g0113 others(5): Show |
10 | 159 | 0.0629 | -2 | c.757 others(19): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36244679 | CCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0009a0003c0006others(1): Show | a0001c0001t0001a0002c0009t0010a0003c0006t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(36): Show |
72 | 296 | 0.2432 | -2 | c.758 others(15): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258142 | TAC | T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01884.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0098 others(4): Show |
9 | 42 | 0.2143 | -2 | c.*23 others(13): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1210 | chr20 | TogoVar | |||||||
AARD_chr8_116933207_116949487 | 116934791 | CAT | C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02027.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0003 a0001c0001t0006g0003 |
11 | 440 | 0.0250 | -2 | c.-34 others(13): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 3415 | chr8 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70249011 | CTG | C | downstream_gene_variant | MODIFIER | NA18960.hp1 NA18975.hp2 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022 others(1): Show |
4 | 360 | 0.0111 | -2 | c.*37 others(13): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3286 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70250666 | CAA | C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01169.hp1 HG01943.hp1 others(5): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0016t0001others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0001g0100 others(5): Show |
8 | 93 | 0.0860 | -2 | c.*20 others(13): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1631 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70253037 | CTT | C | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp2 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0320 a0001c0002t0003g0321 a0001c0002t0003g0322 |
3 | 360 | 0.0083 | -2 | c.272 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 20/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70255526 | CAT | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 others(7): Show |
10 | 360 | 0.0278 | -2 | c.228 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70258895 | CAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(85): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0039 others(85): Show |
88 | 360 | 0.2444 | -2 | c.199 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 14/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70269915 | TAG | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 others(22): Show |
25 | 360 | 0.0694 | -2 | c.817 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 6/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272506 | CAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(46): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0004a0009c0009others(1): Show | a0001c0001t0001a0002c0004t0001a0009c0009t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 others(46): Show |
49 | 165 | 0.2970 | -2 | c.480 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272889 | GAC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01070.hp2 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0169 others(28): Show |
34 | 127 | 0.2677 | -2 | c.480 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70275250 | ACT | A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 others(22): Show |
25 | 360 | 0.0694 | -2 | c.479 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70279350 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(32): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(2): Show | a0001c0001t0001g0112 a0001c0002t0001g0181 a0001c0002t0001g0188 others(32): Show |
35 | 189 | 0.1852 | -2 | c.145 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70287254 | CAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp2 others(12): Show |
a0001a0002a0009 | a0001c0002a0002c0004a0009c0009 | a0001c0002t0003a0002c0004t0001a0009c0009t0001 | a0001c0002t0003g0320 a0002c0004t0001g0333 a0002c0004t0001g0335 others(12): Show |
15 | 84 | 0.1786 | -2 | c.-22 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70288098 | CTT | C | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0099 others(3): Show |
6 | 103 | 0.0583 | -2 | c.-22 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar |