| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF805_chr19_57235632_57267728 | 57241633 | GCTTCAGA others(63): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(101): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0042others(34): Show | a0001c0001t0009g0055a0001c0001t0009g0190a0001c0001t0010g0188others(75): Show | 104 | 400 | 0.2600 | -70 | c.30+ others(83): Show |
ZNF805 | ENSG00000204524.7 | transcript | ENST00000414468.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF888_chr19_52899415_52928428 | 52918958 | ATCTCCCT others(63): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0275 | 1 | 426 | 0.0024 | -70 | c.-17 others(85): Show |
ZNF888 | ENSG00000213793.6 | transcript | ENST00000638862.2 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
| ZP4_chr1_237877404_237895922 | 237883678 | GGAGGGCG others(63): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0199 | 3 | 448 | 0.0067 | -70 | c.139 others(87): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
| ZSCAN5A_chr19_56216303_56319839 | 56235051 | GCCTCTGA others(63): Show |
G | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 362 | 0.0028 | -70 | c.-12 others(89): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ZSCAN5A_chr19_56216303_56319839 | 56235682 | CCTCTGAT others(63): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03098.hp2 HG03486.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0346a0003c0004t0001g0124a0003c0004t0001g0338 | 3 | 362 | 0.0083 | -70 | c.-12 others(91): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ZSCAN5A_chr19_56216303_56319839 | 56236009 | CGTGGGCC others(63): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0149a0001c0001t0001g0196a0001c0001t0001g0197others(5): Show | 8 | 362 | 0.0221 | -70 | c.-12 others(91): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ZSCAN5A_chr19_56216303_56319839 | 56236219 | GGTGGGCC others(63): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02615.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0316a0002c0002t0001g0144a0002c0002t0001g0245others(2): Show | 5 | 362 | 0.0138 | -70 | c.-12 others(91): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ZSCAN5A_chr19_56216303_56319839 | 56236451 | ACCTCTGA others(63): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01256.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0028a0001c0001t0001g0062a0001c0001t0001g0082others(25): Show | 28 | 362 | 0.0774 | -70 | c.-12 others(91): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ZSCAN5A_chr19_56216303_56319839 | 56236533 | TGGTGGGC others(63): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0080a0001c0001t0001g0183a0001c0001t0001g0240others(4): Show | 7 | 362 | 0.0193 | -70 | c.-12 others(91): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ZYG11B_chr1_52721453_52832336 | 52803101 | TATATATA others(63): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0010a0001c0001t0045others(1): Show | a0001c0001t0002g0302a0001c0001t0002g0326a0001c0001t0002g0335others(9): Show | 12 | 352 | 0.0341 | -70 | c.169 others(88): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZYG11B_chr1_52721453_52832336 | 52803179 | TATATATA others(63): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0160 | 1 | 352 | 0.0028 | -70 | c.169 others(89): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ACSF3_chr16_89088852_89161233 | 89160341 | CCCCGAAG others(62): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp2 NA18980.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0006a0004c0004t0003 | a0002c0002t0006g0150a0004c0004t0003g0341 | 2 | 368 | 0.0054 | -69 | c.*61 others(80): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 4109 | chr16 | TogoVar | ||||||
| ACSF3_chr16_89088852_89161233 | 89160396 | CCCCCCGC others(62): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01123.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0003a0003c0008others(1): Show | a0001c0005t0011a0002c0003t0005a0002c0003t0046others(5): Show | a0001c0005t0011g0323a0002c0003t0005g0015a0002c0003t0005g0016others(27): Show | 30 | 368 | 0.0815 | -69 | c.*61 others(80): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 4164 | chr16 | TogoVar | ||||||
| ADAMTS3_chr4_72275969_72574221 | 72550012 | AGAAGAAG others(62): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(3): Show | a0001c0001t0001g0155a0001c0001t0004g0115a0001c0003t0001g0168others(3): Show | 6 | 182 | 0.0330 | -69 | c.98- others(84): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1201575 | CGAGGACC others(62): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0051 | 1 | 106 | 0.0094 | -69 | c.168 others(88): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1201713 | CGAGGACC others(62): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0062 | 1 | 106 | 0.0094 | -69 | c.168 others(88): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238049 | GCCTCCCG others(62): Show |
G | intron_variant | MODIFIER | HG03139.hp2 NA18995.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0017a0002c0002t0004 | a0001c0001t0017g0030a0002c0002t0004g0084 | 2 | 106 | 0.0189 | -69 | c.136 others(88): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238120 | CTCCCGGT others(62): Show |
C | intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0004 | a0002c0004t0028 | a0002c0004t0028g0020 | 1 | 106 | 0.0094 | -69 | c.136 others(88): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238309 | CTCCCGGT others(62): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0022 | a0001c0001t0009g0054a0001c0001t0022g0015 | 2 | 106 | 0.0189 | -69 | c.136 others(88): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238638 | TCTGTCTC others(62): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0004 | a0002c0004t0028 | a0002c0004t0028g0020 | 1 | 106 | 0.0094 | -69 | c.136 others(88): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238686 | CCTGCCTC others(62): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0058 | 1 | 106 | 0.0094 | -69 | c.136 others(88): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1377191 | GCTCCTGG others(62): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0011 | a0007c0011t0034 | a0007c0011t0034g0076 | 1 | 106 | 0.0094 | -69 | c.187 others(86): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| ADGRB1_chr8_142444649_142550007 | 142500220 | CCGCGCCG others(62): Show |
C | intron_variant | MODIFIER | NA19054.hp1 NA19065.hp1 NA19091.hp1 |
a0001 | a0001c0001a0001c0030 | a0001c0001t0001a0001c0030t0001 | a0001c0001t0001g0025a0001c0001t0001g0034a0001c0030t0001g0263 | 3 | 310 | 0.0097 | -69 | c.267 others(88): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRB1_chr8_142444649_142550007 | 142500261 | TCCCCACG others(62): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 310 | 0.0032 | -69 | c.267 others(88): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRB1_chr8_142444649_142550007 | 142500266 | ACGCGCCG others(62): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG02647.hp1 HG02717.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0075a0001c0001t0001g0164a0001c0001t0002g0014others(9): Show | 12 | 310 | 0.0387 | -69 | c.267 others(88): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRB1_chr8_142444649_142550007 | 142501650 | TGATGGGG others(62): Show |
T | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0062 | 1 | 310 | 0.0032 | -69 | c.267 others(88): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADSS1_chr14_104719229_104752310 | 104720753 | TCTCGTGT others(62): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 402 | 0.0025 | -69 | c.-35 others(80): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 3475 | chr14 | TogoVar | ||||||
| AEN_chr15_88616340_88637281 | 88635722 | CTTTTAAT others(62): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0058 | 1 | 440 | 0.0023 | -69 | c.*54 others(80): Show |
AEN | ENSG00000181026.15 | transcript | ENST00000332810.4 | protein_coding | 3442 | chr15 | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1587725 | CCCCTCCC others(62): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0076 | 1 | 151 | 0.0066 | -69 | c.-40 others(80): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3878 | chrX | TogoVar | ||||||
| AKIP1_chr11_8906189_8925079 | 8910640 | TGTGTGTG others(62): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00609.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(9): Show | 28 | 420 | 0.0667 | -69 | c.-58 others(78): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 548 | chr11 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38610299 | AAGAAAAG others(62): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0006 | a0001c0001t0004g0155a0001c0005t0006g0157 | 2 | 288 | 0.0069 | -69 | c.69+ others(86): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
| ANKFN1_chr17_56148475_56522016 | 56467783 | GAAAGAAA others(62): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03225.hp1 |
a0003a0005 | a0003c0003a0005c0013 | a0003c0003t0012a0005c0013t0027 | a0003c0003t0012g0003a0005c0013t0027g0052 | 2 | 112 | 0.0179 | -69 | c.177 others(88): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ANKMY1_chr2_240474422_240562988 | 240498469 | ACAGCTGT others(62): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01106.hp1 HG01109.hp2 others(24): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0006a0001c0030others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(8): Show | a0001c0001t0001g0026a0001c0001t0002g0302a0001c0006t0001g0012others(23): Show | 27 | 320 | 0.0844 | -69 | c.280 others(88): Show |
ANKMY1 | ENSG00000144504.16 | transcript | ENST00000401804.6 | protein_coding | 15/17 | chr2 | TogoVar | ||||||
| APOBEC3H_chr22_39092244_39109067 | 39101577 | GGGGTTGG others(62): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0072 | 1 | 418 | 0.0024 | -69 | c.418 others(83): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ARHGDIG_chr16_275591_288010 | 285848 | GGCGGTTC others(62): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 2 | 442 | 0.0045 | -69 | c.*30 others(80): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2839 | chr16 | TogoVar | ||||||
| ARHGEF18_chr19_7343937_7477478 | 7362014 | AAGGAGAA others(62): Show |
A | intron_variant | MODIFIER | NA18963.hp2 NA19074.hp2 |
a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0145a0001c0023t0001g0146 | 2 | 298 | 0.0067 | -69 | c.-11 others(86): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ARSH_chrX_3001546_3039111 | 3036881 | TATAATAT others(62): Show |
T | downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 248 | 0.0040 | -69 | c.*34 others(80): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2771 | chrX | TogoVar | ||||||
| ASB5_chr4_176208673_176274222 | 176218439 | AATATATA others(62): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 410 | 0.0024 | -69 | c.671 others(86): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| ASCC3_chr6_100503194_100886329 | 100608425 | TTATATAT others(62): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02071.hp2 NA18747.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0189a0003c0004t0004g0190a0003c0004t0004g0191others(1): Show | 4 | 314 | 0.0127 | -69 | c.478 others(88): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1407330 | GATAGATG others(62): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0013 | a0013c0036 | a0013c0036t0001 | a0013c0036t0001g0147 | 1 | 185 | 0.0054 | -69 | c.164 others(88): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ATL2_chr2_38288954_38382273 | 38325643 | CACACACA others(62): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0001a0001c0003t0014g0002 | 2 | 236 | 0.0085 | -69 | c.364 others(86): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112804243 | GCCCTCCT others(62): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0012 | a0012c0043 | a0012c0043t0001 | a0012c0043t0001g0069 | 1 | 254 | 0.0039 | -69 | c.163 others(84): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A1_chr4_42403373_42662105 | 42555085 | GTATCTAT others(62): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0010a0001c0003t0005a0001c0004t0004others(1): Show | a0001c0002t0010g0225a0001c0003t0005g0227a0001c0004t0004g0140others(2): Show | 5 | 310 | 0.0161 | -69 | c.141 others(86): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25528731 | TACATATG others(62): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0002a0001c0004t0003a0001c0004t0004others(5): Show | a0001c0004t0002g0049a0001c0004t0002g0080a0001c0004t0003g0007others(6): Show | 9 | 122 | 0.0738 | -69 | c.222 others(86): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25968849 | GAAACCTA others(62): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0104 | 1 | 122 | 0.0082 | -69 | c.337 others(86): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | chr13 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 285848 | GGCGGTTC others(62): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 378 | 0.0027 | -69 | c.*22 others(80): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1591 | chr16 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82984248 | AGGAGGCC others(62): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01257.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(8): Show | a0001c0001t0002g0058a0001c0001t0004g0242a0001c0001t0004g0247others(14): Show | 18 | 266 | 0.0677 | -69 | c.460 others(88): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| BAD_chr11_64264830_64289665 | 64271067 | ACACACAC others(62): Show |
A | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 388 | 0.0026 | -69 | c.378 others(84): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
| BAD_chr11_64264830_64289665 | 64271135 | CTCACACA others(62): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 388 | 0.0026 | -69 | c.378 others(84): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
| BAG1_chr9_33247471_33269708 | 33252046 | GGGAGAAG others(62): Show |
G | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 348 | 0.0058 | -69 | c.*31 others(80): Show |
BAG1 | ENSG00000107262.26 | transcript | ENST00000634734.3 | protein_coding | 424 | chr9 | TogoVar |