| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1_chr2_69452997_69648739 | 69474253 | T | G | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0016 | a0001c0001t0045a0001c0001t0077a0001c0001t0124others(5): Show | a0001c0001t0045g0287a0001c0001t0077g0072a0001c0001t0124g0188others(5): Show | 8 | 298 | 0.0269 | 0 | c.*16 others(5): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 1616 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69474320 | C | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp1 others(5): Show |
a0001a0004 | a0001c0006a0001c0011a0004c0012 | a0001c0006t0028a0001c0006t0041a0001c0006t0042others(3): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(5): Show | 8 | 298 | 0.0269 | 0 | c.*15 others(5): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 1549 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69474540 | T | A | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0055 | 1 | 298 | 0.0034 | 0 | c.*13 others(5): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 1329 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69474622 | G | A | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(44): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(79): Show | 82 | 298 | 0.2752 | 0 | c.*12 others(5): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 1247 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69474962 | C | A | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0104a0001c0006t0028a0001c0006t0041others(5): Show | a0001c0001t0104g0292a0001c0006t0028g0126a0001c0006t0028g0134others(7): Show | 10 | 298 | 0.0336 | 0 | c.*90 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 907 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475054 | C | A | 3_prime_UTR_variant | MODIFIER | HG02074.hp2 HG02280.hp2 HG02451.hp1 others(19): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0083a0001c0001t0105a0001c0003t0012others(13): Show | a0001c0001t0083g0016a0001c0001t0105g0108a0001c0003t0012g0088others(19): Show | 22 | 298 | 0.0738 | 0 | c.*81 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 815 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475097 | A | G | 3_prime_UTR_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0047 | a0002c0002t0047g0053 | 1 | 298 | 0.0034 | 0 | c.*77 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 772 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475102 | T | G | 3_prime_UTR_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0021 | a0003c0021t0151 | a0003c0021t0151g0282 | 1 | 298 | 0.0034 | 0 | c.*76 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 767 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475170 | G | A | 3_prime_UTR_variant | MODIFIER | NA18612.hp1 NA18939.hp1 NA19002.hp1 |
a0001 | a0001c0003 | a0001c0003t0082a0001c0003t0108a0001c0003t0109 | a0001c0003t0082g0098a0001c0003t0108g0138a0001c0003t0109g0166 | 3 | 298 | 0.0101 | 0 | c.*69 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 699 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475383 | T | C | 3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0016 | 1 | 298 | 0.0034 | 0 | c.*48 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 486 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475496 | C | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(81): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0015others(1): Show | a0001c0001t0013a0001c0001t0037a0001c0001t0126others(38): Show | a0001c0001t0013g0151a0001c0001t0037g0009a0001c0001t0126g0219others(81): Show | 84 | 298 | 0.2819 | 0 | c.*37 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 373 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475781 | T | A | 3_prime_UTR_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0143 | a0001c0001t0143g0198 | 1 | 298 | 0.0034 | 0 | c.*88 others(3): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 88 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475782 | A | T | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0045a0001c0003t0046 | a0001c0001t0045g0287a0001c0003t0046g0100 | 2 | 298 | 0.0067 | 0 | c.*87 others(3): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 87 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475804 | C | T | 3_prime_UTR_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0044 | a0002c0002t0044g0041 | 1 | 298 | 0.0034 | 0 | c.*65 others(3): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 65 | chr2 | TogoVar | |||||
| AAK1_chr2_69452997_69648739 | 69475828 | G | A | 3_prime_UTR_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0144 | a0001c0001t0144g0232 | 1 | 298 | 0.0034 | 0 | c.*41 others(3): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 41 | chr2 | TogoVar | |||||
| AAMDC_chr11_77816144_77877352 | 77872330 | G | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(74): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006a0001c0002t0002g0007a0001c0002t0002g0109others(72): Show | 77 | 382 | 0.2016 | 0 | c.*15 others(3): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 4/4 | 15 | chr11 | TogoVar | |||||
| AAMP_chr2_218259129_218275137 | 218264337 | A | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(379): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(47): Show | 382 | 400 | 0.9550 | 0 | c.*19 others(4): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 11/11 | 196 | chr2 | TogoVar | |||||
| AANAT_chr17_76462603_76475117 | 76470003 | C | T | 3_prime_UTR_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 426 | 0.0024 | 0 | c.*33 others(3): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4/4 | 33 | chr17 | TogoVar | |||||
| AANAT_chr17_76462603_76475117 | 76470091 | G | GAGATAAG others(5): Show |
3_prime_UTR_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 426 | 0.0024 | 12 | c.*12 others(21): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4/4 | 134 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
| AANAT_chr17_76462603_76475117 | 76470111 | G | A | 3_prime_UTR_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 4 | 426 | 0.0094 | 0 | c.*14 others(4): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4/4 | 141 | chr17 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36255767 | C | T | 3_prime_UTR_variant | MODIFIER | HG02630.hp2 HG03225.hp1 NA18522.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0033a0001c0004t0005g0146 | 3 | 298 | 0.0101 | 0 | c.*22 others(3): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 22 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36255835 | C | T | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02922.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0170a0001c0002t0007g0171 | 2 | 298 | 0.0067 | 0 | c.*90 others(3): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 90 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36255914 | C | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028a0001c0002t0004g0030a0001c0002t0004g0128 | 5 | 298 | 0.0168 | 0 | c.*16 others(4): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 169 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36255919 | G | T | 3_prime_UTR_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0069 | 1 | 298 | 0.0034 | 0 | c.*17 others(4): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 174 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36255976 | G | C | 3_prime_UTR_variant | MODIFIER | HG02922.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 2 | 298 | 0.0067 | 0 | c.*23 others(4): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 231 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36256111 | C | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028a0001c0002t0004g0030a0001c0002t0004g0128 | 5 | 298 | 0.0168 | 0 | c.*36 others(4): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 366 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36256319 | A | G | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01261.hp1 HG02293.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0076a0001c0001t0003g0077others(2): Show | 9 | 298 | 0.0302 | 0 | c.*57 others(4): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 574 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36256423 | A | G | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01167.hp2 others(37): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(3): Show | a0001c0002t0002g0005a0001c0002t0002g0031a0001c0002t0002g0036others(25): Show | 40 | 298 | 0.1342 | 0 | c.*67 others(4): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 678 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36256505 | G | A | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0166 | 1 | 298 | 0.0034 | 0 | c.*76 others(4): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 760 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36256589 | C | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028a0001c0002t0004g0030a0001c0002t0004g0128 | 5 | 298 | 0.0168 | 0 | c.*84 others(4): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 844 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36256602 | C | T | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0009 | a0003c0009t0010 | a0003c0009t0010g0164 | 1 | 298 | 0.0034 | 0 | c.*85 others(4): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 857 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36256869 | A | G | 3_prime_UTR_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0151 | 1 | 298 | 0.0034 | 0 | c.*11 others(5): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 1124 | chr20 | TogoVar | |||||
| AAR2_chr20_36231478_36261933 | 36256921 | C | T | 3_prime_UTR_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 | 1 | 298 | 0.0034 | 0 | c.*11 others(5): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4/4 | 1176 | chr20 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116942727 | G | A | 3_prime_UTR_variant | MODIFIER | NA18948.hp2 NA18951.hp2 NA19011.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 7 | 442 | 0.0158 | 0 | c.*26 others(3): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 26 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116942733 | G | A | 3_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0008 | 1 | 442 | 0.0023 | 0 | c.*32 others(3): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 32 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116942766 | C | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(106): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0002g0006a0001c0001t0002g0010a0001c0001t0002g0011others(14): Show | 109 | 442 | 0.2466 | 0 | c.*65 others(3): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 65 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116942772 | G | A | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0007 | a0006c0007t0014 | a0006c0007t0014g0038 | 1 | 442 | 0.0023 | 0 | c.*71 others(3): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 71 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116942939 | G | T | 3_prime_UTR_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0001 | 1 | 442 | 0.0023 | 0 | c.*23 others(4): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 238 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116942969 | C | T | 3_prime_UTR_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0002 | 1 | 442 | 0.0023 | 0 | c.*26 others(4): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 268 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116942999 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00741.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0002c0002t0005others(2): Show | a0001c0001t0005g0006a0001c0001t0005g0010a0001c0001t0005g0011others(9): Show | 29 | 442 | 0.0656 | 1 | c.*32 others(5): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 321 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
| AARD_chr8_116933207_116949487 | 116942999 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(5): Show | a0001c0001t0003g0001a0001c0001t0003g0003a0001c0001t0003g0004others(7): Show | 28 | 442 | 0.0634 | -1 | c.*32 others(5): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 320 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
| AARD_chr8_116933207_116949487 | 116943012 | A | G | 3_prime_UTR_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 | 6 | 442 | 0.0136 | 0 | c.*31 others(4): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 311 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116943027 | C | T | 3_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0010 | a0001c0001t0010g0003a0002c0002t0010g0016 | 4 | 442 | 0.0091 | 0 | c.*32 others(4): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 326 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116943054 | G | A | 3_prime_UTR_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0027 | 1 | 442 | 0.0023 | 0 | c.*35 others(4): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 353 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116943113 | C | T | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01516.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004a0002c0002t0012 | a0001c0001t0004g0003a0001c0001t0004g0005a0001c0001t0004g0007others(4): Show | 21 | 442 | 0.0475 | 0 | c.*41 others(4): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 412 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116943318 | C | T | 3_prime_UTR_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0001 | 1 | 442 | 0.0023 | 0 | c.*61 others(4): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 617 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116943748 | A | G | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02257.hp1 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0007a0002c0002t0007a0005c0005t0007 | a0001c0001t0007g0007a0002c0002t0007g0005a0005c0005t0007g0007 | 8 | 442 | 0.0181 | 0 | c.*10 others(5): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 1047 | chr8 | TogoVar | |||||
| AARD_chr8_116933207_116949487 | 116943952 | T | C | 3_prime_UTR_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 | 6 | 442 | 0.0136 | 0 | c.*12 others(5): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 1251 | chr8 | TogoVar | |||||
| AARS1_chr16_70247298_70294506 | 70252325 | C | A | 3_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0054 | 1 | 362 | 0.0028 | 0 | c.*39 others(4): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 21/21 | 396 | chr16 | TogoVar | |||||
| AARS1_chr16_70247298_70294506 | 70252363 | G | A | 3_prime_UTR_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0334 | 1 | 362 | 0.0028 | 0 | c.*35 others(4): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 21/21 | 358 | chr16 | TogoVar |