| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP11A_chr13_112685038_112892168 | 112804305 | TCCTCCTT others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(11): Show | a0001c0001t0001g0085a0001c0001t0001g0156a0001c0001t0001g0225others(21): Show | 24 | 254 | 0.0945 | -8 | c.163 others(23): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112804356 | CCCCTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(11): Show | a0001c0001t0001g0085a0001c0001t0001g0156a0001c0001t0001g0225others(22): Show | 25 | 254 | 0.0984 | -8 | c.163 others(23): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112811161 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0019a0001c0042 | a0001c0001t0001a0001c0019t0008a0001c0019t0015others(1): Show | a0001c0001t0001g0065a0001c0019t0008g0051a0001c0019t0015g0147others(1): Show | 4 | 254 | 0.0158 | -8 | c.441 others(23): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11B_chr3_182788504_182926629 | 182791352 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG02738.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0022a0001c0001t0001g0053others(5): Show | 8 | 324 | 0.0247 | -8 | c.-24 others(19): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 2151 | chr3 | TogoVar | ||||||
| ATP11B_chr3_182788504_182926629 | 182854752 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0007 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0003g0202others(2): Show | 5 | 324 | 0.0154 | -8 | c.852 others(25): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP11B_chr3_182788504_182926629 | 182874499 | CATTACGA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG01257.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0005a0001c0002t0007a0004c0004t0007 | a0001c0001t0005g0252a0001c0001t0005g0253a0001c0001t0005g0254others(15): Show | 18 | 324 | 0.0556 | -8 | c.225 others(25): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 19/29 | chr3 | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139742876 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0028a0001c0001t0031g0218 | 2 | 234 | 0.0086 | -8 | c.303 others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139769281 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01981.hp2 HG03139.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0011a0002c0002t0005others(1): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(4): Show | 7 | 234 | 0.0299 | -8 | c.221 others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139799644 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | NA18957.hp1 NA18969.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0067a0002c0002t0002g0041 | 2 | 234 | 0.0086 | -8 | c.710 others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 8/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139802498 | TATTATGA others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0202a0003c0004t0004g0204 | 2 | 234 | 0.0086 | -8 | c.556 others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 6/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139852450 | TGCGGGGG others(1): Show |
T | intron_variant | MODIFIER | NA18942.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067a0001c0001t0002g0192 | 2 | 234 | 0.0086 | -8 | c.28- others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139852452 | CGGGGGGG others(1): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 234 | 0.0043 | -8 | c.28- others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139853833 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0036 | 1 | 234 | 0.0043 | -8 | c.28- others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139866343 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0030others(2): Show | a0001c0001t0003g0207a0001c0001t0004g0062a0001c0001t0004g0197others(16): Show | 19 | 234 | 0.0812 | -8 | c.28- others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139896546 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp1 HG01167.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0100a0001c0001t0001g0157a0001c0001t0001g0176others(18): Show | 21 | 234 | 0.0897 | -8 | c.27+ others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139919444 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02257.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0082a0001c0001t0002g0191a0001c0001t0011g0036others(9): Show | 12 | 234 | 0.0513 | -8 | c.27+ others(25): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139922223 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00738.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0107others(22): Show | 25 | 234 | 0.1068 | -8 | c.27+ others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
| ATP11C_chrX_139721348_139938053 | 139934552 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01928.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0127others(1): Show | 4 | 234 | 0.0171 | -8 | c.-25 others(19): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1500 | chrX | TogoVar | ||||||
| ATP12A_chr13_24675408_24717472 | 24708896 | GAAAGGAA others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp1 HG01192.hp1 others(5): Show |
a0002a0006 | a0002c0004a0002c0011a0002c0028others(1): Show | a0002c0004t0003a0002c0011t0003a0002c0028t0003others(1): Show | a0002c0004t0003g0033a0002c0004t0003g0261a0002c0004t0003g0266others(4): Show | 8 | 382 | 0.0209 | -8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | chr13 | TogoVar | ||||||
| ATP12A_chr13_24675408_24717472 | 24708900 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01069.hp2 others(24): Show |
a0001a0005a0014 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0191others(20): Show | 27 | 382 | 0.0707 | -8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP12A_chr13_24675408_24717472 | 24708956 | AGAAAGAA others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0007a0001c0003t0002a0001c0003t0007others(3): Show | a0001c0001t0007g0225a0001c0003t0002g0035a0001c0003t0002g0289others(11): Show | 15 | 382 | 0.0393 | -8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP13A1_chr19_19640198_19668676 | 19664464 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0029others(13): Show | 33 | 380 | 0.0868 | -8 | c.-80 others(17): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 789 | chr19 | TogoVar | ||||||
| ATP13A1_chr19_19640198_19668676 | 19664778 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01257.hp1 HG01258.hp2 others(28): Show |
a0001a0002a0005 | a0001c0001a0001c0016a0002c0005others(1): Show | a0001c0001t0001a0001c0016t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0049a0001c0001t0001g0135others(15): Show | 31 | 380 | 0.0816 | -8 | c.-11 others(19): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 1103 | chr19 | TogoVar | ||||||
| ATP13A2_chr1_16980958_17016928 | 17013774 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01517.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0024 | a0001c0001t0001a0001c0002t0001a0001c0024t0001 | a0001c0001t0001g0015a0001c0001t0001g0204a0001c0001t0001g0225others(3): Show | 6 | 366 | 0.0164 | -8 | c.-20 others(19): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 1847 | chr1 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194417396 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01256.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019 | a0001c0001t0001g0061a0001c0001t0001g0129a0001c0001t0001g0130others(2): Show | 5 | 304 | 0.0165 | -8 | c.340 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194417943 | AGACAGAC others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02572.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0232a0001c0001t0002g0233a0001c0001t0002g0248others(2): Show | 5 | 304 | 0.0165 | -8 | c.340 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194417954 | CGGACGGA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00738.hp1 others(83): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0002g0134a0001c0001t0002g0181a0001c0001t0002g0190others(83): Show | 86 | 304 | 0.2829 | -8 | c.340 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194427635 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01070.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0052a0001c0001t0001g0083a0001c0001t0001g0096others(58): Show | 61 | 304 | 0.2007 | -8 | c.294 others(25): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 28/33 | chr3 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194449044 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG02257.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0106a0001c0001t0003g0069a0001c0001t0005g0174others(8): Show | 11 | 304 | 0.0362 | -8 | c.971 others(23): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 11/33 | chr3 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193412506 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp1 HG02109.hp2 others(9): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0178a0001c0001t0002g0151a0001c0001t0002g0228others(9): Show | 12 | 302 | 0.0397 | -8 | c.301 others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 26/29 | chr3 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193484310 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02698.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0004a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0004g0110a0002c0002t0001g0076a0002c0002t0003g0136others(2): Show | 5 | 302 | 0.0166 | -8 | c.739 others(23): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193496797 | CATAAATA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG01258.hp1 others(15): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0007others(1): Show | a0001c0004t0001a0001c0004t0003a0001c0004t0004others(5): Show | a0001c0004t0001g0294a0001c0004t0001g0295a0001c0004t0001g0296others(15): Show | 18 | 302 | 0.0596 | -8 | c.382 others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193531296 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01123.hp1 others(15): Show |
a0001a0002a0012 | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0028a0001c0001t0001g0239a0001c0001t0001g0243others(15): Show | 18 | 302 | 0.0596 | -8 | c.61- others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193531413 | AGGAAGGA others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01346.hp1 HG02155.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(9): Show | a0001c0001t0003g0107a0001c0001t0004g0110a0001c0001t0016g0108others(16): Show | 19 | 302 | 0.0629 | -8 | c.61- others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193545973 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0003a0002c0002t0024others(2): Show | a0001c0001t0001g0204a0002c0002t0003g0136a0002c0002t0024g0127others(3): Show | 6 | 302 | 0.0199 | -8 | c.60+ others(23): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193549431 | TATAGAGA others(1): Show |
T | intron_variant | MODIFIER | NA18947.hp1 NA18961.hp1 NA18974.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(1): Show | 4 | 302 | 0.0133 | -8 | c.60+ others(23): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
| ATP13A5_chr3_193269789_193383753 | 193362750 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01070.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0007a0001c0012others(5): Show | a0001c0006t0001a0001c0007t0001a0001c0012t0001others(7): Show | a0001c0006t0001g0099a0001c0007t0001g0029a0001c0007t0001g0155others(27): Show | 31 | 284 | 0.1092 | -8 | c.385 others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
| ATP13A5_chr3_193269789_193383753 | 193368392 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG01934.hp2 HG02004.hp2 others(2): Show |
a0002a0009 | a0002c0001a0009c0009 | a0002c0001t0001a0009c0009t0001 | a0002c0001t0001g0107a0002c0001t0001g0108a0002c0001t0001g0109others(2): Show | 5 | 284 | 0.0176 | -8 | c.64- others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
| ATP13A5_chr3_193269789_193383753 | 193378074 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG02615.hp2 HG02976.hp1 others(6): Show |
a0001a0003a0009 | a0001c0007a0003c0002a0009c0009 | a0001c0007t0002a0003c0002t0002a0009c0009t0002 | a0001c0007t0002g0190a0001c0007t0002g0191a0001c0007t0002g0194others(6): Show | 9 | 284 | 0.0317 | -8 | c.63+ others(21): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
| ATP1A1_chr1_116368244_116409774 | 116386126 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01891.hp2 others(23): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0070a0001c0003t0001g0146a0001c0003t0001g0147others(17): Show | 26 | 336 | 0.0774 | -8 | c.184 others(25): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP1A2_chr1_160110759_160148591 | 160111638 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(53): Show | 79 | 414 | 0.1908 | -8 | c.-42 others(19): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 4120 | chr1 | TogoVar | ||||||
| ATP1A2_chr1_160110759_160148591 | 160112970 | TGTCACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(55): Show | 75 | 414 | 0.1812 | -8 | c.-28 others(19): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 2788 | chr1 | TogoVar | ||||||
| ATP1A2_chr1_160110759_160148591 | 160112972 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0003t0001others(2): Show | a0001c0001t0001g0070a0001c0001t0011g0237a0001c0003t0001g0061others(16): Show | 24 | 414 | 0.0580 | -8 | c.-28 others(19): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 2786 | chr1 | TogoVar | ||||||
| ATP1A3_chr19_41961582_41999230 | 41965564 | GTTTTTTG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0003a0001c0008a0001c0009 | a0001c0003t0003a0001c0008t0003a0001c0009t0003 | a0001c0003t0003g0153a0001c0003t0003g0170a0001c0003t0003g0196others(3): Show | 6 | 282 | 0.0213 | -8 | c.*13 others(19): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 1017 | chr19 | TogoVar | ||||||
| ATP1A3_chr19_41961582_41999230 | 41972804 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02071.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0011a0001c0001t0001g0046a0001c0001t0001g0068others(17): Show | 22 | 282 | 0.0780 | -8 | c.226 others(27): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | ||||||
| ATP1A3_chr19_41961582_41999230 | 41993501 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01884.hp2 others(20): Show |
a0001 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0028others(19): Show | 23 | 282 | 0.0816 | -8 | c.6+5 others(19): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 1/22 | chr19 | TogoVar | ||||||
| ATP1A4_chr1_160146603_160191980 | 160150980 | TTTTGTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02486.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0003a0001c0004t0001a0001c0005t0001others(1): Show | a0001c0001t0003g0389a0001c0004t0001g0332a0001c0004t0001g0339others(11): Show | 14 | 418 | 0.0335 | -8 | c.-10 others(19): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 622 | chr1 | TogoVar | ||||||
| ATP1B1_chr1_169101690_169137719 | 169129978 | AATCTACT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0302a0001c0001t0005g0334a0001c0001t0005g0335others(1): Show | 4 | 412 | 0.0097 | -8 | c.568 others(21): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP1B2_chr17_7645926_7662770 | 7660810 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0029a0001c0001t0030others(8): Show | a0001c0001t0005g0001a0001c0001t0005g0026a0001c0001t0029g0001others(12): Show | 45 | 440 | 0.1023 | -8 | c.*49 others(19): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 3041 | chr17 | TogoVar | ||||||
| ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0095a0001c0001t0001g0107a0001c0001t0006g0092others(8): Show | 11 | 408 | 0.0270 | -8 | c.-20 others(19): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar |