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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0C_chr16_2508952_2525218 | 2516352 | TCCACCTG others(8): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 336 | 0.0030 | -15 | c.79+ others(30): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
ATP6V0C_chr16_2508952_2525218 | 2520549 | CGGGCCGG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 336 | 0.0030 | -15 | c.*80 others(24): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 332 | chr16 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145374 | GAAAGAAA others(8): Show |
G | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 360 | 0.0028 | -15 | c.639 others(32): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10754542 | ATTTTCTT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(253): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0015others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(251): Show | 256 | 354 | 0.7232 | -15 | c.283 others(30): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17631692 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 370 | 0.0027 | -15 | c.-30 others(26): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2944 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631704 | ATATTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 370 | 0.0027 | -15 | c.-30 others(26): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2956 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0201a0001c0001t0004g0216 | 2 | 370 | 0.0054 | -15 | c.-30 others(26): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | ||||||
ATP6V1F_chr7_128857856_128870847 | 128858990 | AAAGGAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 442 | 0.0023 | -15 | c.-39 others(26): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 3865 | chr7 | TogoVar | ||||||
ATP6V1G2_chr6_31539444_31551608 | 31540701 | GAGCACAG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01099.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016 | 24 | 435 | 0.0552 | -15 | c.*46 others(26): Show |
ATP6V1G2 | ENSG00000213760.11 | transcript | ENST00000303892.10 | protein_coding | 3742 | chr6 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53737231 | AGTGCACT others(8): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG01981.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132a0001c0001t0002g0157a0001c0001t0002g0166 | 3 | 286 | 0.0105 | -15 | c.139 others(34): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755723 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 286 | 0.0035 | -15 | c.127 others(32): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755727 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 286 | 0.0035 | -15 | c.127 others(32): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53765451 | AACAACAC others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0265a0001c0001t0004g0266 | 2 | 286 | 0.0070 | -15 | c.117 others(34): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53765457 | ACACACAC others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161a0001c0001t0002g0162a0001c0001t0002g0163others(2): Show | 5 | 286 | 0.0175 | -15 | c.117 others(34): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77956726 | CCTTTCTT others(8): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0020 | 1 | 233 | 0.0043 | -15 | c.-21 others(34): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42500365 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0005a0001c0002t0016others(1): Show | a0001c0001t0006g0192a0001c0002t0005g0191a0001c0002t0016g0026others(2): Show | 5 | 310 | 0.0161 | -15 | c.215 others(34): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42507729 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01255.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0026 | a0001c0002t0004g0019a0001c0002t0004g0020a0001c0002t0004g0021others(5): Show | 8 | 310 | 0.0258 | -15 | c.194 others(32): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25429371 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0004 | 1 | 122 | 0.0082 | -15 | c.77- others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25531393 | TATGATTA others(8): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0020 | a0001c0020t0019 | a0001c0020t0019g0067 | 1 | 122 | 0.0082 | -15 | c.420 others(30): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25623883 | TATGCATA others(8): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0087 | 1 | 122 | 0.0082 | -15 | c.221 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25637092 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG02895.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(1): Show | a0001c0002t0001g0032a0001c0002t0002g0037a0001c0002t0006g0119others(1): Show | 4 | 122 | 0.0328 | -15 | c.221 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25793025 | GGAGAAGA others(8): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0060 | a0001c0003t0008g0010a0001c0003t0060g0115 | 2 | 122 | 0.0164 | -15 | c.267 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25813382 | TATATGAT others(8): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02976.hp2 HG03041.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0010a0001c0001t0048a0001c0001t0072others(7): Show | a0001c0001t0010g0100a0001c0001t0048g0122a0001c0001t0072g0027others(7): Show | 10 | 122 | 0.0820 | -15 | c.268 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25882894 | AGATGATG others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(10): Show | a0001c0001t0002g0079a0001c0001t0005g0102a0001c0001t0016g0104others(11): Show | 14 | 122 | 0.1148 | -15 | c.318 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25907363 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG01081.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(36): Show | a0001c0001t0003g0093a0001c0001t0004g0046a0001c0001t0008g0073others(37): Show | 40 | 122 | 0.3279 | -15 | c.318 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57672884 | AAGTATAT others(8): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0302a0001c0001t0008g0051 | 2 | 314 | 0.0064 | -15 | c.182 others(34): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57687773 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02080.hp1 NA18939.hp1 NA18939.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0019a0002c0002t0037 | a0002c0002t0014g0207a0002c0002t0014g0229a0002c0002t0014g0237others(7): Show | 10 | 314 | 0.0319 | -15 | c.142 others(32): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 13/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57690021 | AAAACAAA others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0290a0001c0001t0028g0308 | 2 | 314 | 0.0064 | -15 | c.122 others(34): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 12/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57746467 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0312 | 1 | 314 | 0.0032 | -15 | c.-25 others(34): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1787728 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0000 | a0000c0071 | a0000c0071t0007 | a0000c0071t0007g0170 | 1 | 390 | 0.0026 | -15 | c.307 others(32): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 24/28 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50098266 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0028others(6): Show | a0001c0001t0001g0144a0001c0001t0001g0192a0001c0001t0001g0230others(25): Show | 28 | 254 | 0.1102 | -15 | c.28+ others(30): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51641652 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG03942.hp2 HG04199.hp2 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0221a0001c0003t0007g0224a0001c0003t0007g0307 | 3 | 312 | 0.0096 | -15 | c.150 others(34): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51704781 | AAAACAAA others(8): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0010 | 1 | 312 | 0.0032 | -15 | c.437 others(32): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 4/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51718814 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0030others(78): Show | 81 | 312 | 0.2596 | -15 | c.328 others(32): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79234589 | GTGCTTGC others(8): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03225.hp1 others(1): Show |
a0001a0014 | a0001c0004a0001c0014a0001c0017others(1): Show | a0001c0004t0003a0001c0014t0006a0001c0017t0004others(1): Show | a0001c0004t0003g0113a0001c0014t0006g0017a0001c0017t0004g0099others(1): Show | 4 | 298 | 0.0134 | -15 | c.110 others(36): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATPSCKMT_chr5_10220507_10254888 | 10249896 | TTAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0106 | 1 | 358 | 0.0028 | -15 | c.-38 others(22): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 9 | chr5 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249897 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0216 | 1 | 358 | 0.0028 | -15 | c.-39 others(22): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 10 | chr5 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115515763 | CTGTTGGA others(8): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03486.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0003a0001c0011t0002 | a0001c0003t0003g0060a0001c0011t0002g0116 | 2 | 128 | 0.0156 | -15 | c.365 others(34): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115940683 | CTCTCTCT others(8): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01071.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0009a0001c0001t0011a0001c0001t0016others(14): Show | a0001c0001t0009g0122a0001c0001t0011g0112a0001c0001t0011g0119others(27): Show | 30 | 128 | 0.2344 | -15 | c.401 others(34): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3484909 | AATTATTA others(8): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG03486.hp2 |
a0007 | a0007c0015a0007c0027 | a0007c0015t0004a0007c0015t0024a0007c0027t0014 | a0007c0015t0004g0026a0007c0015t0024g0137a0007c0027t0014g0029 | 3 | 220 | 0.0136 | -15 | c.410 others(34): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3504688 | GATAATAA others(8): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02145.hp2 others(8): Show |
a0001a0009 | a0001c0003a0001c0005a0001c0006others(3): Show | a0001c0003t0002a0001c0003t0031a0001c0005t0007others(4): Show | a0001c0003t0002g0214a0001c0003t0002g0215a0001c0003t0002g0216others(8): Show | 11 | 220 | 0.0500 | -15 | c.411 others(34): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3620219 | AGTTTTGT others(8): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG03704.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0135a0001c0002t0003g0176 | 2 | 220 | 0.0091 | -15 | c.380 others(34): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03209.hp1 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0019a0001c0002t0020a0001c0006t0020others(1): Show | a0001c0001t0019g0129a0001c0002t0020g0098a0001c0006t0020g0180others(1): Show | 4 | 220 | 0.0182 | -15 | c.386 others(34): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77585583 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0076 | 1 | 218 | 0.0046 | -15 | c.621 others(34): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 218 | 0.0046 | -15 | c.455 others(32): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(8): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01891.hp1 others(5): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0001a0003c0003t0001 | a0001c0004t0001g0316a0001c0004t0001g0317a0001c0004t0001g0318others(5): Show | 8 | 322 | 0.0248 | -15 | c.589 others(30): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45735812 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18970.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0059 | 2 | 316 | 0.0063 | -15 | c.895 others(32): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0091others(4): Show | 7 | 316 | 0.0222 | -15 | c.117 others(36): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45795354 | GATTCTAT others(8): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG02630.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014 | a0001c0001t0001g0055a0001c0001t0001g0084a0001c0001t0001g0121others(4): Show | 7 | 316 | 0.0222 | -15 | c.117 others(36): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45819192 | AAATAGAA others(8): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00639.hp1 others(58): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0071a0001c0001t0001g0087a0001c0001t0001g0088others(58): Show | 61 | 316 | 0.1930 | -15 | c.123 others(36): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |