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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARID4B_chr1_235161902_235333179 | 235309000 | GCCCGGCC others(33): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01884.hp1 others(10): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0157a0001c0004t0001g0158a0001c0004t0001g0161others(10): Show | 13 | 272 | 0.0478 | -40 | c.6+1 others(55): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 2/23 | chr1 | TogoVar | ||||||
ARL3_chr10_102668731_102719397 | 102688805 | TGGCATGT others(33): Show |
T | intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 424 | 0.0024 | -40 | c.315 others(57): Show |
ARL3 | ENSG00000138175.9 | transcript | ENST00000260746.6 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ARMC8_chr3_138182301_138303373 | 138229144 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231a0001c0001t0001g0233 | 2 | 246 | 0.0081 | -40 | c.528 others(55): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARMT1_chr6_151447466_151475101 | 151450134 | GCCCGGCC others(33): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(97): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0002t0001g0002others(23): Show | 100 | 418 | 0.2392 | -40 | c.-24 others(51): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 2331 | chr6 | TogoVar | ||||||
ARRDC2_chr19_18003170_18019102 | 18005825 | CCAGACGG others(33): Show |
C | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 414 | 0.0024 | -40 | c.-24 others(51): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 2344 | chr19 | TogoVar | ||||||
ARRDC2_chr19_18003170_18019102 | 18005839 | AGCCGGGC others(33): Show |
A | upstream_gene_variant | MODIFIER | NA18963.hp2 NA19002.hp1 NA19054.hp1 |
a0001a0012 | a0001c0001a0012c0016 | a0001c0001t0007a0012c0016t0007 | a0001c0001t0007g0002a0012c0016t0007g0002 | 3 | 414 | 0.0073 | -40 | c.-24 others(51): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 2330 | chr19 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68331193 | CTTTCTTT others(33): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01069.hp1 others(25): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(14): Show | a0001c0001t0001g0123a0001c0001t0002g0085a0001c0001t0002g0098others(25): Show | 28 | 304 | 0.0921 | -40 | c.219 others(59): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSJ_chr4_113895284_113984647 | 113924056 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0055 | 1 | 350 | 0.0029 | -40 | c.399 others(59): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049257 | GGGGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 308 | 0.0033 | -40 | c.*54 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2846 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049662 | GGGGGCAG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01256.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0026a0002c0003t0010g0018 | 2 | 308 | 0.0065 | -40 | c.*50 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2441 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049671 | GGGGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 NA19091.hp2 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0075a0002c0011t0001g0074 | 2 | 308 | 0.0065 | -40 | c.*50 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2432 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049692 | GGGGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 308 | 0.0033 | -40 | c.*49 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2411 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049733 | GGGGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0025 | 1 | 308 | 0.0033 | -40 | c.*49 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2370 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049816 | GGAGAACA others(33): Show |
G | downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 308 | 0.0033 | -40 | c.*48 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2287 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049827 | GGGGGCAG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0242 | 1 | 308 | 0.0033 | -40 | c.*48 others(51): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2276 | chr8 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620522 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | NA19010.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0324a0001c0001t0014g0297 | 2 | 380 | 0.0053 | -40 | c.451 others(57): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB5_chr4_176208673_176274222 | 176219535 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG01346.hp2 NA18972.hp1 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0164a0001c0001t0001g0243others(1): Show | 4 | 410 | 0.0098 | -40 | c.670 others(57): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33012555 | CACCTCCC others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 240 | 0.0042 | -40 | c.*13 others(51): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 531 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33269613 | CCCTTCCT others(33): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 240 | 0.0042 | -40 | c.708 others(59): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC5_chr4_155824729_155871277 | 155853588 | TATAATAT others(33): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0067 | 1 | 334 | 0.0030 | -40 | c.585 others(55): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82006068 | CGTGTCCT others(33): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0009a0001c0008t0002g0211a0001c0008t0002g0212others(1): Show | 6 | 366 | 0.0164 | -40 | c.934 others(57): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATAD2_chr8_123314850_123401447 | 123314894 | GGGGTCAG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(263): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0041a0001c0001t0001g0061others(262): Show | 266 | 278 | 0.9568 | -40 | c.*62 others(51): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 4955 | chr8 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308219 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02486.hp2 NA18939.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0023 | a0001c0003t0003g0009a0001c0003t0003g0210a0001c0003t0003g0225others(1): Show | 5 | 356 | 0.0140 | -40 | c.430 others(59): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308246 | ATATATAC others(33): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 NA18941.hp1 |
a0001a0005 | a0001c0003a0005c0010 | a0001c0003t0020a0005c0010t0012 | a0001c0003t0020g0222a0005c0010t0012g0236a0005c0010t0012g0237 | 3 | 356 | 0.0084 | -40 | c.430 others(59): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG4A_chrX_108086778_108159671 | 108148020 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(91): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(76): Show | 94 | 249 | 0.3775 | -40 | c.815 others(57): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62850854 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | NA18961.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0084 | 2 | 322 | 0.0062 | -40 | c.120 others(59): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATOSA_chr15_52576321_52684388 | 52597165 | GTTCTATT others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(329): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0003a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(310): Show | 332 | 362 | 0.9171 | -40 | c.264 others(59): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112766952 | GGGAGTGC others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG02738.hp2 HG03669.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0055a0001c0004t0006a0002c0003t0002others(1): Show | a0001c0001t0055g0161a0001c0004t0006g0109a0002c0003t0002g0089others(2): Show | 5 | 254 | 0.0197 | -40 | c.40- others(57): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112766959 | CTGGGAGC others(33): Show |
C | intron_variant | MODIFIER | NA19084.hp2 | a0003 | a0003c0007 | a0003c0007t0011 | a0003c0007t0011g0025 | 1 | 254 | 0.0039 | -40 | c.40- others(57): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112767119 | TGGGAGCC others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00741.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0055others(4): Show | a0001c0001t0001g0015a0001c0001t0019g0018a0001c0001t0055g0161others(4): Show | 7 | 254 | 0.0276 | -40 | c.40- others(57): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112767274 | TGTTGGGG others(33): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18906.hp2 |
a0001a0003 | a0001c0009a0003c0012 | a0001c0009t0003a0003c0012t0005 | a0001c0009t0003g0218a0003c0012t0005g0188 | 2 | 254 | 0.0079 | -40 | c.40- others(57): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112815160 | AATGGCTT others(33): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0157a0001c0001t0023g0158 | 2 | 254 | 0.0079 | -40 | c.442 others(55): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112815252 | TCACCCTT others(33): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG03516.hp1 |
a0001 | a0001c0009 | a0001c0009t0004a0001c0009t0049 | a0001c0009t0004g0140a0001c0009t0049g0141 | 2 | 254 | 0.0079 | -40 | c.442 others(55): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203624245 | GGAAGGAA others(33): Show |
G | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0085 | 1 | 318 | 0.0031 | -40 | c.-34 others(51): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2586 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203678061 | AGTGCTGC others(33): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0011 | 1 | 318 | 0.0031 | -40 | c.-46 others(59): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130986893 | GTTTAGTT others(33): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 382 | 0.0026 | -40 | c.184 others(59): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V0A4_chr7_138701294_138803196 | 138784235 | CGTATATA others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(136): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0027a0001c0001t0001g0033a0001c0001t0001g0051others(136): Show | 139 | 376 | 0.3697 | -40 | c.-18 others(57): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546472 | ATGTGTAT others(33): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00741.hp1 others(14): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0005c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0012others(11): Show | 17 | 410 | 0.0415 | -40 | c.-46 others(51): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3896 | chr2 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53819618 | ATATATAC others(33): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0265a0001c0001t0004g0266 | 2 | 286 | 0.0070 | -40 | c.307 others(57): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25513396 | GGATGGCG others(33): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01070.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0013 | a0001c0001t0001g0036a0001c0001t0011g0061a0001c0001t0011g0062others(2): Show | 5 | 122 | 0.0410 | -40 | c.222 others(59): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57731308 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(92): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0024others(92): Show | 95 | 314 | 0.3026 | -40 | c.181 others(55): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57807048 | CACTGGAA others(33): Show |
C | upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0127 | 1 | 314 | 0.0032 | -40 | c.-41 others(51): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 3734 | chr18 | TogoVar | ||||||
ATP8B2_chr1_154320525_154356304 | 154348694 | AGAGGCCT others(33): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0004a0001c0010 | a0001c0004t0004a0001c0004t0028a0001c0010t0001 | a0001c0004t0004g0012a0001c0004t0004g0137a0001c0004t0004g0146others(2): Show | 12 | 382 | 0.0314 | -40 | c.329 others(56): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP8B2_chr1_154320525_154356304 | 154348720 | AGGTGCTG others(33): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01943.hp2 HG01981.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011a0001c0002t0003g0044a0001c0002t0003g0122others(3): Show | 12 | 382 | 0.0314 | -40 | c.329 others(56): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP8B3_chr19_1777075_1817276 | 1808521 | ACCAGCAT others(33): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02559.hp1 others(4): Show |
a0000a0002 | a0000c0027a0000c0040a0000c0050others(2): Show | a0000c0027t0008a0000c0040t0008a0000c0050t0008others(2): Show | a0000c0027t0008g0263a0000c0040t0008g0265a0000c0050t0008g0236others(3): Show | 7 | 390 | 0.0180 | -40 | c.403 others(55): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 4/28 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072956 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 254 | 0.0039 | -40 | c.87+ others(55): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638069 | TTTTATAT others(33): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0236 | 1 | 312 | 0.0032 | -40 | c.166 others(59): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79072702 | CCCCCCCA others(33): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(104): Show |
a0002a0005a0006others(5): Show | a0002c0002a0002c0005a0002c0032others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0158a0002c0002t0001g0159a0002c0002t0001g0160others(104): Show | 107 | 298 | 0.3591 | -40 | c.119 others(57): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79072965 | CAGAGACG others(33): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 298 | 0.0034 | -40 | c.119 others(57): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79365732 | CCCATGCG others(33): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0204 | 1 | 298 | 0.0034 | -40 | c.301 others(59): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |