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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF99_chr19_22747183_22789151 | 22787437 | T | TGCGCCAT others(22): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 344 | 0.0029 | 29 | c.-34 others(40): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 3287 | chr19 | TogoVar | ||||||
ZNHIT6_chr1_85644417_85713433 | 85667961 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 376 | 0.0027 | 29 | c.124 others(48): Show |
ZNHIT6 | ENSG00000117174.11 | transcript | ENST00000370574.4 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
ZNHIT6_chr1_85644417_85713433 | 85667961 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0088a0001c0001t0004g0149 | 2 | 376 | 0.0053 | 29 | c.124 others(48): Show |
ZNHIT6 | ENSG00000117174.11 | transcript | ENST00000370574.4 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
ZNHIT6_chr1_85644417_85713433 | 85667961 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0038 | a0001c0001t0002g0011a0001c0001t0038g0055 | 3 | 376 | 0.0080 | 29 | c.124 others(48): Show |
ZNHIT6 | ENSG00000117174.11 | transcript | ENST00000370574.4 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
ZNHIT6_chr1_85644417_85713433 | 85667961 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01123.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0015 | a0001c0001t0002g0057a0001c0001t0002g0074a0001c0001t0002g0089others(9): Show | 12 | 376 | 0.0319 | 29 | c.124 others(48): Show |
ZNHIT6 | ENSG00000117174.11 | transcript | ENST00000370574.4 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
ZP3_chr7_76419950_76447069 | 76423079 | G | GAAAGAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0126 | 1 | 424 | 0.0024 | 29 | c.-18 others(40): Show |
ZP3 | ENSG00000188372.15 | transcript | ENST00000394857.8 | protein_coding | 1870 | chr7 | TogoVar | ||||||
ZP3_chr7_76419950_76447069 | 76433169 | T | TTTTGGTT others(22): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 424 | 0.0024 | 29 | c.535 others(44): Show |
ZP3 | ENSG00000188372.15 | transcript | ENST00000394857.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZPBP_chr7_49932441_50098246 | 49981305 | A | ATTATATA others(22): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0068 | 2 | 278 | 0.0072 | 29 | c.961 others(46): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
ZPLD1_chr3_102430015_102484841 | 102478482 | A | AGAACATT others(22): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(191): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(178): Show | 194 | 268 | 0.7239 | 29 | c.*86 others(38): Show |
ZPLD1 | ENSG00000170044.9 | transcript | ENST00000466937.2 | protein_coding | 12/12 | 866 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ZRANB2_chr1_71058291_71086035 | 71059764 | A | ATATAAAC others(22): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0021a0001c0001t0005g0092a0001c0001t0012g0093 | 7 | 434 | 0.0161 | 29 | c.*53 others(40): Show |
ZRANB2 | ENSG00000132485.14 | transcript | ENST00000370920.8 | protein_coding | 3526 | chr1 | TogoVar | ||||||
ZRANB3_chr2_135191969_135536218 | 135204716 | T | TTATTATA others(22): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0005 | a0005c0008 | a0005c0008t0009 | a0005c0008t0009g0110 | 1 | 214 | 0.0047 | 29 | c.301 others(48): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 19/20 | chr2 | TogoVar | ||||||
ZRANB3_chr2_135191969_135536218 | 135245926 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0175a0001c0001t0014g0151 | 2 | 214 | 0.0094 | 29 | c.154 others(50): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 12/20 | chr2 | TogoVar | ||||||
ZRANB3_chr2_135191969_135536218 | 135272414 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18982.hp1 NA18986.hp1 others(3): Show |
a0002a0003a0004 | a0002c0002a0003c0004a0004c0006 | a0002c0002t0002a0003c0004t0002a0003c0004t0012others(1): Show | a0002c0002t0002g0206a0003c0004t0002g0042a0003c0004t0002g0046others(3): Show | 6 | 214 | 0.0280 | 29 | c.108 others(46): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 9/20 | chr2 | TogoVar | ||||||
ZSCAN21_chr7_100044774_100070040 | 100051178 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18950.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205a0001c0001t0003g0206a0001c0001t0003g0207others(1): Show | 4 | 392 | 0.0102 | 29 | c.-97 others(46): Show |
ZSCAN21 | ENSG00000166529.16 | transcript | ENST00000292450.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZSCAN9_chr6_28220275_28238487 | 28236218 | G | GGACTTCC others(22): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 416 | 0.0024 | 29 | c.*30 others(40): Show |
ZSCAN9 | ENSG00000137185.13 | transcript | ENST00000252207.10 | protein_coding | 2732 | chr6 | TogoVar | ||||||
ZSWIM7_chr17_15971560_16004704 | 15976098 | A | AAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0075 | 1 | 344 | 0.0029 | 29 | c.*19 others(40): Show |
ZSWIM7 | ENSG00000214941.8 | transcript | ENST00000399277.6 | protein_coding | 461 | chr17 | TogoVar | ||||||
ZSWIM9_chr19_48165680_48202620 | 48187569 | T | TATATATT others(22): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0096 | 4 | 388 | 0.0103 | 29 | c.588 others(46): Show |
ZSWIM9 | ENSG00000185453.13 | transcript | ENST00000614654.2 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
ZWILCH_chr15_66500326_66555130 | 66517430 | G | GTGTGTGT others(22): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 410 | 0.0024 | 29 | c.321 others(46): Show |
ZWILCH | ENSG00000174442.12 | transcript | ENST00000307897.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ZYG11A_chr1_52837760_52899998 | 52882979 | C | CTCATCTT others(22): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0024a0001c0001t0004g0025a0001c0001t0004g0026others(6): Show | 9 | 290 | 0.0310 | 29 | c.194 others(48): Show |
ZYG11A | ENSG00000203995.11 | transcript | ENST00000371528.2 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52773627 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0336 | 1 | 352 | 0.0028 | 29 | c.951 others(46): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52773627 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0158 | 1 | 352 | 0.0028 | 29 | c.951 others(46): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52773628 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 352 | 0.0028 | 29 | c.951 others(46): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52776229 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0097 | 1 | 352 | 0.0028 | 29 | c.952 others(46): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52776229 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02818.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0023a0001c0001t0029 | a0001c0001t0019g0127a0001c0001t0023g0286a0001c0001t0029g0351 | 3 | 352 | 0.0085 | 29 | c.952 others(46): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52776229 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18949.hp1 NA19070.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0026 | a0001c0001t0013g0081a0001c0001t0013g0082a0001c0001t0026g0129 | 3 | 352 | 0.0085 | 29 | c.952 others(46): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYX_chr7_143376345_143396111 | 143385660 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 454 | 0.0022 | 29 | c.102 others(48): Show |
ZYX | ENSG00000159840.16 | transcript | ENST00000322764.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0025a0002c0008t0001 | a0001c0001t0025g0392a0002c0008t0001g0212 | 2 | 406 | 0.0049 | 30 | c.-18 others(49): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658166 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 310 | 0.0032 | 30 | c.386 others(47): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01928.hp1 HG01981.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0147a0002c0002t0003g0164a0002c0002t0003g0217others(1): Show | 4 | 380 | 0.0105 | 30 | c.535 others(47): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18983.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0015 | a0002c0002t0001g0038a0002c0002t0015g0002 | 2 | 298 | 0.0067 | 30 | c.236 others(49): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0005 | a0002c0005t0040 | a0002c0005t0040g0006 | 1 | 298 | 0.0034 | 30 | c.227 others(49): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 362 | 0.0028 | 30 | c.-41 others(41): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37023490 | T | TATTCTTT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0022a0001c0001t0001g0023others(61): Show | 64 | 245 | 0.2612 | 30 | c.154 others(49): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01168.hp1 others(4): Show |
a0001 | a0001c0001a0001c0011a0001c0013 | a0001c0001t0001a0001c0001t0039a0001c0011t0001others(2): Show | a0001c0001t0001g0108a0001c0001t0001g0146a0001c0001t0001g0272others(4): Show | 7 | 362 | 0.0193 | 30 | c.-41 others(49): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0230 | 1 | 362 | 0.0028 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTTTATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0244 | 1 | 362 | 0.0028 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 | 1 | 362 | 0.0028 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18960.hp1 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0002 | a0002c0002t0001g0170a0002c0009t0002g0320 | 2 | 362 | 0.0055 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02027.hp2 NA19002.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0029 | a0002c0002t0003g0139a0002c0002t0029g0208 | 2 | 362 | 0.0055 | 30 | c.71- others(45): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA10_chr17_69143007_69233824 | 69146164 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0007 | a0007c0008 | a0007c0008t0007 | a0007c0008t0007g0338 | 1 | 348 | 0.0029 | 30 | c.*26 others(41): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1842 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146239 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 348 | 0.0029 | 30 | c.*25 others(41): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1767 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162808 | T | TATATACA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0025 | a0025c0029 | a0025c0029t0014 | a0025c0029t0014g0197 | 1 | 348 | 0.0029 | 30 | c.336 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162808 | T | TATATACA others(23): Show |
intron_variant | MODIFIER | HG03688.hp1 HG04115.hp2 |
a0022a0023 | a0022c0024a0023c0026 | a0022c0024t0001a0023c0026t0001 | a0022c0024t0001g0303a0023c0026t0001g0070 | 2 | 348 | 0.0058 | 30 | c.336 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(23): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02129.hp2 HG02451.hp2 others(10): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0001a0008c0009t0009 | a0002c0002t0001g0014a0002c0002t0001g0019a0002c0002t0001g0022others(9): Show | 13 | 348 | 0.0374 | 30 | c.336 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(23): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 348 | 0.0029 | 30 | c.336 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69210170 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0215 | 1 | 348 | 0.0029 | 30 | c.100 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01891.hp2 others(2): Show |
a0004a0009 | a0004c0004a0004c0006a0009c0022 | a0004c0004t0003a0004c0006t0003a0009c0022t0012 | a0004c0004t0003g0235a0004c0004t0003g0241a0004c0004t0003g0255others(2): Show | 5 | 348 | 0.0144 | 30 | c.100 others(49): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATACATA others(23): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02523.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0059a0001c0001t0002g0117a0001c0001t0020g0155 | 3 | 198 | 0.0152 | 30 | c.382 others(47): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02886.hp2 others(1): Show |
a0001a0005a0006others(1): Show | a0001c0002a0005c0062a0006c0019others(1): Show | a0001c0002t0001a0005c0062t0004a0006c0019t0001others(1): Show | a0001c0002t0001g0050a0005c0062t0004g0078a0006c0019t0001g0099others(1): Show | 4 | 198 | 0.0202 | 30 | c.382 others(47): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134470 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0022 | a0001c0022t0019 | a0001c0022t0019g0014 | 1 | 198 | 0.0051 | 30 | c.69+ others(45): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar |