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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP10B_chr5_160558120_160857211 | 160695489 | AGTGTGT | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(71): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0065 others(71): Show |
74 | 78 | 0.9487 | -6 | c.-20 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160733690 | CACATAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(70): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0067 others(70): Show |
73 | 224 | 0.3259 | -6 | c.-33 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755814 | CAAAAAA | C | intron_variant | MODIFIER | HG03710.hp1 HG03942.hp2 HG04199.hp1 others(2): Show |
a0002a0025 | a0002c0003a0002c0004a0025c0032 | a0002c0003t0006a0002c0004t0004a0025c0032t0011 | a0002c0003t0006g0037 a0002c0003t0006g0070 a0002c0003t0006g0183 others(2): Show |
5 | 204 | 0.0245 | -6 | c.-33 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160766337 | AACACAC | A | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG01069.hp1 others(43): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0064 others(43): Show |
46 | 65 | 0.7077 | -6 | c.-33 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160782438 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00738.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0064 a0001c0001t0001g0158 a0001c0001t0001g0162 others(32): Show |
35 | 77 | 0.4545 | -6 | c.-33 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160783562 | TACACAC | T | intron_variant | MODIFIER | HG01346.hp1 HG01433.hp1 HG01496.hp2 others(17): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0162 a0001c0001t0001g0163 others(17): Show |
20 | 89 | 0.2247 | -6 | c.-33 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160783592 | CACACAT | C | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG02647.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0053others(5): Show | a0001c0001t0003g0088 a0001c0001t0008g0172 a0001c0002t0053g0236 others(5): Show |
8 | 234 | 0.0342 | -6 | c.-33 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160787105 | GACACAC | G | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01261.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0159 a0001c0001t0002g0206 a0001c0001t0003g0045 others(10): Show |
13 | 73 | 0.1781 | -6 | c.-57 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160812020 | CAGAGAG | C | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01071.hp2 others(42): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(42): Show |
45 | 150 | 0.3000 | -6 | c.-57 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160822980 | TTACATA | T | intron_variant | MODIFIER | HG00099.hp1 HG01346.hp2 HG02083.hp2 others(2): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0010others(2): Show | a0001c0001t0001g0159 a0001c0001t0002g0148 a0001c0002t0010g0149 others(2): Show |
5 | 234 | 0.0214 | -6 | c.-57 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160822995 | TATATAC | T | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG02074.hp2 others(9): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0005others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0124 a0001c0001t0004g0126 others(9): Show |
12 | 234 | 0.0513 | -6 | c.-57 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47482454 | CTCTTCT | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01123.hp2 others(40): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(11): Show | a0001c0001t0004a0001c0003t0001a0002c0002t0001others(11): Show | a0001c0001t0004g0047 a0001c0001t0004g0078 a0001c0001t0004g0079 others(39): Show |
43 | 258 | 0.1667 | -6 | c.-31 others(17): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2820 | chr4 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47482473 | TCTCCTC | T | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG01256.hp1 others(17): Show |
a0002a0003a0008others(5): Show | a0002c0002a0002c0008a0003c0004others(7): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0005others(8): Show | a0002c0002t0001g0118 a0002c0002t0001g0195 a0002c0008t0001g0196 others(16): Show |
20 | 330 | 0.0606 | -6 | c.-30 others(17): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2801 | chr4 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47509943 | GGTGTGT | G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp2 others(94): Show |
a0001a0002a0003others(19): Show | a0001c0003a0001c0031a0002c0002others(25): Show | a0001c0003t0001a0001c0031t0002a0002c0002t0001others(32): Show | a0001c0003t0001g0028 a0001c0003t0001g0037 a0001c0003t0001g0108 others(89): Show |
97 | 133 | 0.7293 | -6 | c.-37 others(23): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47528458 | GGTGTGT | G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00621.hp1 others(62): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0016others(19): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0001others(27): Show | a0001c0001t0003g0222 a0001c0001t0003g0231 a0001c0001t0003g0253 others(59): Show |
65 | 143 | 0.4545 | -6 | c.776 others(23): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47572644 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(80): Show |
a0003a0004a0007others(13): Show | a0003c0004a0003c0048a0004c0005others(15): Show | a0003c0004t0005a0003c0004t0006a0003c0004t0007others(22): Show | a0003c0004t0005g0041 a0003c0004t0005g0044 a0003c0004t0005g0046 others(74): Show |
83 | 102 | 0.8137 | -6 | c.324 others(23): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112795416 | TTGTAAA | T | intron_variant | MODIFIER | HG02809.hp2 HG03579.hp1 |
a0001 | a0001c0002a0001c0046 | a0001c0002t0014a0001c0046t0016 | a0001c0002t0014g0197 a0001c0046t0016g0062 |
2 | 252 | 0.0079 | -6 | 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 | 112885078 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG02083.hp1 HG02523.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0010a0002c0010t0010 | a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0010g0096 others(2): Show |
5 | 228 | 0.0219 | -6 | c.*32 others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 30/30 | 6791 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182796229 | CAATGTT | C | intron_variant | MODIFIER | NA18944.hp1 NA18995.hp1 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 others(1): Show |
4 | 322 | 0.0124 | -6 | c.27+ others(21): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182844988 | TTTTTTA | T | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 HG02896.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0010 | a0001c0002t0004g0001 a0001c0002t0004g0309 a0001c0002t0004g0310 others(4): Show |
9 | 322 | 0.0280 | -6 | c.705 others(21): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182854752 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00735.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0002g0007 a0001c0001t0002g0129 a0001c0001t0002g0133 others(22): Show |
26 | 45 | 0.5778 | -6 | c.852 others(23): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182911406 | TATAATC | T | intron_variant | MODIFIER | HG01169.hp1 HG02738.hp1 NA20805.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0115 a0005c0006t0001g0076 a0005c0006t0001g0084 |
3 | 322 | 0.0093 | -6 | c.331 others(25): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139769281 | CATATAT | C | intron_variant | MODIFIER | HG01069.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0004 | a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0081 others(4): Show |
7 | 38 | 0.1842 | -6 | c.221 others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139790464 | TCACACA | T | intron_variant | MODIFIER | NA19030.hp2 NA19240.hp1 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0205 a0003c0004t0004g0206 |
2 | 130 | 0.0154 | -6 | c.120 others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 12/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139896546 | TACACAC | T | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01496.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0082 others(23): Show |
26 | 42 | 0.6190 | -6 | c.27+ others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139896619 | GTCTCTC | G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp1 others(59): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0155 a0001c0001t0002g0045 a0001c0001t0002g0067 others(59): Show |
62 | 181 | 0.3425 | -6 | c.27+ others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139919444 | AACACAC | A | intron_variant | MODIFIER | HG00642.hp1 HG01358.hp1 HG01952.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 others(16): Show |
19 | 47 | 0.4043 | -6 | c.27+ others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139920374 | GTACTGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(133): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(133): Show |
136 | 232 | 0.5862 | -6 | c.27+ others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139922223 | AATATAT | A | intron_variant | MODIFIER | HG01255.hp1 HG02257.hp2 HG02735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0083 others(14): Show |
17 | 27 | 0.6296 | -6 | c.27+ others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP12A_chr13_24675408_24717472 | 24694859 | TCTCACA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(223): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(30): Show | a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0079 others(158): Show |
226 | 369 | 0.6125 | -6 | c.151 others(23): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19641299 | GTCTCGA | G | downstream_gene_variant | MODIFIER | HG01169.hp2 HG01358.hp1 HG02055.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0120 others(1): Show |
12 | 378 | 0.0317 | -6 | c.*41 others(17): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 3898 | chr19 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194410937 | GGTGTGT | G | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00738.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0135 a0001c0001t0001g0182 a0001c0001t0001g0191 others(68): Show |
71 | 233 | 0.3047 | -6 | c.357 others(25): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | GACACAC | G | intron_variant | MODIFIER | HG04228.hp1 HG06807.hp2 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0250 |
3 | 27 | 0.1111 | -6 | c.340 others(25): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194449044 | TACACAC | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0135 a0001c0001t0001g0200 a0001c0001t0001g0208 others(13): Show |
16 | 83 | 0.1928 | -6 | c.971 others(21): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 11/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194484565 | ACTTTAT | A | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01070.hp1 others(87): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(87): Show |
90 | 302 | 0.2980 | -6 | c.-47 others(23): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193412506 | AACACAC | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG02055.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(10): Show | a0001c0001t0001g0207 a0001c0001t0004g0123 a0001c0001t0004g0209 others(17): Show |
20 | 45 | 0.4444 | -6 | c.301 others(23): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 26/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193498257 | AAAAAAG | A | intron_variant | MODIFIER | HG01496.hp1 HG01943.hp2 HG02293.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0239 others(1): Show |
4 | 300 | 0.0133 | -6 | c.381 others(23): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193519626 | ATTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01081.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(14): Show | a0001c0001t0001g0156 a0001c0001t0001g0212 a0001c0001t0003g0151 others(28): Show |
31 | 114 | 0.2719 | -6 | c.61- others(21): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193545973 | TTGTGTG | T | intron_variant | MODIFIER | HG00438.hp1 HG01884.hp2 HG03492.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0007 | a0001c0001t0001a0002c0003t0001a0002c0007t0001others(1): Show | a0001c0001t0001g0065 a0002c0003t0001g0064 a0002c0007t0001g0062 others(3): Show |
6 | 46 | 0.1304 | -6 | c.60+ others(21): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193549429 | TATATAG | T | intron_variant | MODIFIER | HG01975.hp1 HG01981.hp1 HG02148.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0002g0146 others(2): Show |
5 | 300 | 0.0167 | -6 | c.60+ others(21): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193554653 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(134): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(133): Show |
137 | 140 | 0.9786 | -6 | c.60+ others(17): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | AACACAC | A | downstream_gene_variant | MODIFIER | HG02451.hp2 NA18978.hp2 NA20129.hp1 |
a0002a0003a0034 | a0002c0001a0003c0041a0034c0044 | a0002c0001t0001a0003c0041t0002a0034c0044t0001 | a0002c0001t0001g0152 a0003c0041t0002g0197 a0034c0044t0001g0017 |
3 | 45 | 0.0667 | -6 | c.*49 others(17): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193378074 | ATGTGTG | A | intron_variant | MODIFIER | HG01099.hp2 HG02027.hp2 HG02647.hp2 others(1): Show |
a0003a0006a0008 | a0003c0002a0006c0004a0008c0043 | a0003c0002t0001a0006c0004t0001a0008c0043t0002 | a0003c0002t0001g0182 a0003c0002t0001g0183 a0006c0004t0001g0184 others(1): Show |
4 | 15 | 0.2667 | -6 | c.63+ others(19): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP1A2_chr1_160110759_160148591 | 160111432 | TGAAAAG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(1): Show | a0001c0001t0001g0070 a0001c0003t0001g0061 a0001c0003t0006g0005 others(16): Show |
24 | 412 | 0.0583 | -6 | c.-44 others(17): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 4326 | chr1 | TogoVar | |||||||
ATP1A2_chr1_160110759_160148591 | 160112943 | GTCTCTC | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01257.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 others(24): Show |
42 | 370 | 0.1135 | -6 | c.-29 others(17): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 2815 | chr1 | TogoVar | |||||||
ATP1A2_chr1_160110759_160148591 | 160112970 | TGTCACA | T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01515.hp2 others(20): Show |
a0001 | a0001c0001a0001c0004a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(17): Show |
23 | 243 | 0.0947 | -6 | c.-28 others(17): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 2788 | chr1 | TogoVar | |||||||
ATP1A2_chr1_160110759_160148591 | 160112972 | TCACACA | T | upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG01891.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0030 others(16): Show |
21 | 166 | 0.1265 | -6 | c.-28 others(17): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 2786 | chr1 | TogoVar | |||||||
ATP1A2_chr1_160110759_160148591 | 160119256 | CAAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0005a0001c0001t0012a0001c0002t0002others(2): Show | a0001c0001t0005g0045 a0001c0001t0012g0045 a0001c0002t0002g0022 others(2): Show |
6 | 7 | 0.8571 | -6 | c.13- others(21): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41993501 | GCACACA | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(100): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(91): Show |
103 | 112 | 0.9196 | -6 | c.6+5 others(17): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 1/22 | chr19 | TogoVar | |||||||
ATP1A4_chr1_160146603_160191980 | 160180694 | CTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01192.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(7): Show | a0001c0003t0001g0020 a0001c0004t0001g0039 a0001c0004t0001g0089 others(9): Show |
12 | 27 | 0.4444 | -6 | c.273 others(23): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |