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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1B1_chr2_70930900_70970431 | 70945699 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01074.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0080 others(10): Show |
15 | 278 | 0.0540 | 8 | c.174 others(25): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01952.hp2 HG02615.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0010others(2): Show | a0001c0001t0006a0002c0003t0001a0002c0010t0002others(2): Show | a0001c0001t0006g0351 a0002c0003t0001g0262 a0002c0003t0001g0289 others(4): Show |
7 | 70 | 0.1000 | 8 | c.174 others(25): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00733.hp1 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(7): Show | a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0002t0001g0003 others(56): Show |
62 | 105 | 0.5905 | 8 | c.114 others(25): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70965548 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01169.hp2 HG01256.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0006others(6): Show | a0001c0001t0001a0001c0001t0006a0002c0003t0001others(7): Show | a0001c0001t0001g0022 a0001c0001t0001g0087 a0001c0001t0006g0350 others(13): Show |
18 | 144 | 0.1250 | 8 | c.*42 others(17): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 118 | chr2 | TogoVar | |||||||
ATP6V1C1_chr8_103016083_103078051 | 103047430 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014a0001c0001t0032 | a0001c0001t0011g0080 a0001c0001t0014g0209 a0001c0001t0032g0081 |
3 | 254 | 0.0118 | 8 | c.201 others(25): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10729172 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG02896.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0023others(4): Show | a0001c0001t0002g0212 a0002c0002t0002g0171 a0002c0002t0023g0099 others(4): Show |
7 | 251 | 0.0279 | 8 | c.197 others(25): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10741892 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01192.hp1 HG02630.hp1 others(1): Show |
a0002 | a0002c0002a0002c0003a0002c0007 | a0002c0002t0001a0002c0003t0004a0002c0007t0009 | a0002c0002t0001g0150 a0002c0002t0001g0225 a0002c0003t0004g0152 others(1): Show |
4 | 8 | 0.5000 | 8 | c.198 others(27): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10774276 | T | TCAGAGAT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp2 others(12): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0007a0001c0001t0013a0002c0002t0004others(6): Show | a0001c0001t0007g0237 a0001c0001t0013g0074 a0002c0002t0004g0123 others(12): Show |
15 | 352 | 0.0426 | 8 | c.639 others(23): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10788065 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG01993.hp2 HG02135.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0005 | a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0145 others(4): Show |
7 | 210 | 0.0333 | 8 | c.*48 others(19): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2956 | chr2 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17629818 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01168.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0006 a0001c0001t0002g0027 a0001c0001t0002g0238 others(15): Show |
19 | 174 | 0.1092 | 8 | c.-11 others(19): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1070 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG03239.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0164 a0001c0001t0005g0136 a0001c0001t0010g0094 others(1): Show |
4 | 217 | 0.0184 | 8 | c.-30 others(19): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518490 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01074.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0066 others(12): Show |
15 | 57 | 0.2632 | 8 | c.-10 others(27): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518758 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01981.hp1 HG01993.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0015 a0001c0001t0001g0054 a0001c0001t0001g0076 others(3): Show |
8 | 27 | 0.2963 | 8 | c.-10 others(27): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46540613 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01168.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0036 a0001c0001t0003g0119 others(19): Show |
31 | 61 | 0.5082 | 8 | c.-31 others(25): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
ATP6V1G1_chr9_114582769_114603879 | 114588510 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0006g0074 others(1): Show |
4 | 47 | 0.0851 | 8 | c.82+ others(21): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ATP6V1G1_chr9_114582769_114603879 | 114596982 | G | GATTCTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02027.hp2 HG02132.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0012 | a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0049 others(4): Show |
10 | 418 | 0.0239 | 8 | c.184 others(23): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ATP6V1G3_chr1_198518222_198545680 | 198538891 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01257.hp2 HG01975.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0094 others(5): Show |
11 | 196 | 0.0561 | 8 | c.82+ others(23): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53798610 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02965.hp2 HG03225.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 others(4): Show |
7 | 88 | 0.0795 | 8 | c.678 others(25): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53819547 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02257.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0185 |
3 | 116 | 0.0259 | 8 | c.307 others(25): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53819585 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18962.hp1 NA19000.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 others(1): Show |
4 | 194 | 0.0206 | 8 | c.307 others(25): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77944834 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03041.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0038 |
3 | 214 | 0.0140 | 8 | c.-21 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77948059 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18961.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0204 a0001c0001t0001g0214 |
3 | 176 | 0.0170 | 8 | c.-21 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77948100 | T | TATTTATT others(1): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0120 a0001c0001t0008g0122 |
2 | 147 | 0.0136 | 8 | c.-21 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77956726 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01515.hp1 HG01517.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0150 others(40): Show |
44 | 88 | 0.5000 | 8 | c.-21 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78022487 | A | ATGTTTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 NA19063.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002a0002c0002t0006others(1): Show | a0001c0001t0003g0016 a0002c0002t0002g0038 a0002c0002t0006g0106 others(1): Show |
4 | 227 | 0.0176 | 8 | c.291 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78022505 | G | GTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03688.hp1 NA19089.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0095 a0001c0001t0001g0175 a0001c0008t0001g0176 |
3 | 16 | 0.1875 | 8 | c.291 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78022505 | G | GTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(48): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(6): Show | a0001c0001t0001g0219 a0001c0001t0007g0018 a0002c0002t0002g0033 others(47): Show |
51 | 64 | 0.7969 | 8 | c.291 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42468430 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0003g0216 others(19): Show |
22 | 84 | 0.2619 | 8 | c.232 others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42472767 | G | GAGAGAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(47): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0147 a0001c0001t0005g0301 a0001c0001t0006g0192 others(47): Show |
50 | 305 | 0.1639 | 8 | c.232 others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42479996 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01069.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0057 others(19): Show |
22 | 64 | 0.3438 | 8 | c.232 others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42507798 | A | AAACAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(42): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0147 a0001c0001t0005g0298 a0001c0001t0005g0301 others(42): Show |
45 | 299 | 0.1505 | 8 | c.194 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555085 | G | GTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02129.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0140 a0001c0001t0003g0259 a0001c0001t0006g0222 others(5): Show |
8 | 206 | 0.0388 | 8 | c.141 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01358.hp2 HG02129.hp1 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0005g0247 others(5): Show |
8 | 176 | 0.0455 | 8 | c.141 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTAATC others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19030.hp2 NA19077.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0124 a0001c0001t0003g0231 a0001c0001t0012g0302 others(1): Show |
4 | 172 | 0.0233 | 8 | c.141 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTATCT others(1): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02615.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0014others(1): Show | a0001c0001t0002g0183 a0001c0001t0007g0105 a0001c0002t0014g0278 others(1): Show |
4 | 172 | 0.0233 | 8 | c.141 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTTATC others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02155.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0067 others(1): Show |
4 | 172 | 0.0233 | 8 | c.141 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42604430 | T | TGACATAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(217): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0047 others(217): Show |
220 | 308 | 0.7143 | 8 | c.410 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42623009 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp2 others(39): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0002g0015 others(39): Show |
42 | 178 | 0.2360 | 8 | c.363 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 4/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635778 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03471.hp1 NA19079.hp2 |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0002a0001c0001t0004a0006c0011t0005 | a0001c0001t0002g0014 a0001c0001t0004g0018 a0006c0011t0005g0229 |
3 | 290 | 0.0103 | 8 | c.50- others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18962.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0164 a0001c0001t0002g0061 a0001c0001t0005g0254 others(2): Show |
5 | 229 | 0.0218 | 8 | c.50- others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01515.hp2 HG02015.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(6): Show | a0001c0001t0001g0057 a0001c0001t0008g0093 a0001c0001t0012g0291 others(8): Show |
11 | 82 | 0.1341 | 8 | c.50- others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25465737 | T | TTCTTTCC others(1): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0048a0001c0015t0008 | a0001c0001t0048g0122 a0001c0015t0008g0015 |
2 | 63 | 0.0317 | 8 | c.77- others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02615.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0015a0001c0001t0019a0001c0001t0042others(2): Show | a0001c0001t0015g0082 a0001c0001t0019g0005 a0001c0001t0042g0059 others(2): Show |
5 | 40 | 0.1250 | 8 | c.77- others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465783 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp2 others(1): Show |
a0001 | a0001c0004a0001c0019 | a0001c0004t0002a0001c0004t0004a0001c0019t0007 | a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0004g0048 others(1): Show |
4 | 89 | 0.0449 | 8 | c.77- others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25506940 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01261.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0004a0001c0001t0042a0001c0001t0051others(4): Show | a0001c0001t0004g0046 a0001c0001t0042g0059 a0001c0001t0051g0053 others(4): Show |
7 | 39 | 0.1795 | 8 | c.222 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25507219 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0016a0001c0002t0022others(1): Show | a0001c0002t0003g0087 a0001c0002t0016g0011 a0001c0002t0022g0117 others(1): Show |
4 | 112 | 0.0357 | 8 | c.222 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25510174 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18952.hp1 NA19004.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0007a0001c0003t0009a0001c0007t0001 | a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0007t0001g0081 |
3 | 72 | 0.0417 | 8 | c.222 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25524886 | A | ACTTCCTT others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02965.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0010 | a0001c0001t0041a0001c0001t0066a0001c0007t0007others(1): Show | a0001c0001t0041g0044 a0001c0001t0066g0092 a0001c0007t0007g0094 others(1): Show |
4 | 24 | 0.1667 | 8 | c.222 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25539088 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0008 | a0001c0003t0006g0078 a0001c0003t0008g0010 |
2 | 118 | 0.0169 | 8 | c.581 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25594984 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0013 | a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0006 |
3 | 25 | 0.1200 | 8 | c.221 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |