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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTUD7A_chr15_31470398_31875673 | 31511365 | TATATATG others(310): Show |
T | intron_variant | MODIFIER | HG00642.hp2 NA18983.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037a0001c0002t0001g0099 | 2 | 244 | 0.0082 | -317 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44114394 | ATTGTTAC others(310): Show |
A | intron_variant | MODIFIER | HG04184.hp1 NA19091.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0015a0002c0003t0001g0063 | 2 | 332 | 0.0060 | -317 | c.274 others(17): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41266014 | TAAAATGA others(310): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(149): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0010others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(57): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(149): Show | 152 | 206 | 0.7379 | -317 | c.843 others(19): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEDS1_chr20_50113254_50158723 | 50156237 | TGACTTTT others(310): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(175): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0128a0001c0001t0001g0157a0001c0001t0001g0240others(158): Show | 178 | 366 | 0.4863 | -317 | c.-29 others(11): Show |
PEDS1 | ENSG00000240849.11 | transcript | ENST00000371652.9 | protein_coding | 2515 | chr20 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977227 | ACCCCGGG others(310): Show |
A | intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 408 | 0.0025 | -317 | c.215 others(17): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977126 | CACCAACC others(310): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0050 | 1 | 422 | 0.0024 | -317 | c.*25 others(11): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1262 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977227 | ACCCCGGG others(310): Show |
A | downstream_gene_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0028 | 1 | 422 | 0.0024 | -317 | c.*26 others(11): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1363 | chr1 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101782250 | CCTCTCTC others(310): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0081a0001c0001t0001g0096a0001c0001t0001g0106others(19): Show | 22 | 138 | 0.1594 | -317 | c.94- others(15): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PRDM5_chr4_120686915_120927726 | 120887774 | AGACATTT others(310): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(162): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(162): Show | 165 | 298 | 0.5537 | -317 | c.177 others(19): Show |
PRDM5 | ENSG00000138738.11 | transcript | ENST00000264808.8 | protein_coding | 2/15 | chr4 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84680773 | GCAAAAAT others(310): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0058a0001c0001t0006g0011 | 2 | 82 | 0.0244 | -317 | c.257 others(19): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SLC9A3_chr5_465456_529449 | 495379 | TCCCCGCG others(310): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 218 | 0.0046 | -317 | c.212 others(17): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44951878 | TGGGTTTA others(310): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01884.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0018a0001c0001t0001g0030a0001c0001t0001g0039others(6): Show | 12 | 334 | 0.0359 | -317 | c.283 others(17): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
SOS2_chr14_50112130_50236578 | 50137874 | CTGTCACC others(310): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 382 | 0.0026 | -317 | c.295 others(17): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 18/22 | chr14 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2347393 | CTCTCCAC others(310): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0183 | 1 | 414 | 0.0024 | -317 | c.135 others(19): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SRBD1_chr2_45383680_45616267 | 45415108 | ATGTATAT others(310): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01261.hp2 HG04204.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0257a0002c0002t0001g0267a0002c0002t0001g0268 | 3 | 358 | 0.0084 | -317 | c.233 others(19): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | ||||||
SUV39H2_chr10_14873866_14909315 | 14894349 | AGCAAAGT others(310): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(220): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(138): Show | 223 | 420 | 0.5310 | -317 | c.178 others(17): Show |
SUV39H2 | ENSG00000152455.16 | transcript | ENST00000354919.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TXLNB_chr6_139235061_139296998 | 139281530 | TCTGGAGT others(310): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00735.hp1 others(85): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0028others(22): Show | a0001c0001t0001a0001c0004t0001a0001c0028t0001others(31): Show | a0001c0001t0001g0133a0001c0004t0001g0003a0001c0004t0001g0005others(76): Show | 88 | 294 | 0.2993 | -317 | c.425 others(17): Show |
TXLNB | ENSG00000164440.15 | transcript | ENST00000358430.8 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
VSTM4_chr10_49009236_49120522 | 49069970 | CGGCCGGG others(310): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp1 others(125): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0013a0001c0001t0001g0034a0001c0001t0001g0221others(120): Show | 128 | 280 | 0.4571 | -317 | c.635 others(17): Show |
VSTM4 | ENSG00000165633.13 | transcript | ENST00000332853.9 | protein_coding | 4/7 | chr10 | TogoVar | ||||||
ZC3HAV1_chr7_139038515_139114720 | 139057522 | AAACAATT others(310): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(197): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0008a0001c0017others(24): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0011others(75): Show | a0001c0002t0002g0100a0001c0002t0002g0112a0001c0002t0002g0117others(197): Show | 200 | 314 | 0.6369 | -317 | c.209 others(19): Show |
ZC3HAV1 | ENSG00000105939.14 | transcript | ENST00000242351.10 | protein_coding | 9/12 | chr7 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76392685 | AGGCAGGT others(310): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0013 | a0013c0037 | a0013c0037t0002 | a0013c0037t0002g0060 | 1 | 346 | 0.0029 | -317 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF730_chr19_23112025_23152221 | 23137986 | TGAAAATG others(310): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(198): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(154): Show | 201 | 292 | 0.6884 | -317 | c.226 others(17): Show |
ZNF730 | ENSG00000183850.14 | transcript | ENST00000597761.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1289290 | CCTGCCCC others(309): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0023 | a0001c0023t0006 | a0001c0023t0006g0218 | 1 | 295 | 0.0034 | -316 | c.*39 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3100 | chr1 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003688 | GTGTGGGA others(309): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0015 | 1 | 266 | 0.0038 | -316 | c.459 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004282 | GGGGGAGT others(309): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(80): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0085a0001c0001t0001g0086others(50): Show | 83 | 394 | 0.2107 | -316 | c.-14 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10744415 | TGGGCACC others(309): Show |
T | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 236 | 0.0042 | -316 | c.-77 others(19): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65639932 | AGTTCAAG others(309): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02965.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0029a0002c0004t0001g0041 | 2 | 112 | 0.0179 | -316 | c.279 others(18): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 25/26 | chr17 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1948335 | CGATCACT others(309): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0014 | a0014c0046 | a0014c0046t0001 | a0014c0046t0001g0087 | 1 | 278 | 0.0036 | -316 | c.217 others(19): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 18/38 | chr1 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106480957 | TGAGACTC others(309): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(156): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0009a0001c0022others(46): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0025others(156): Show | 159 | 272 | 0.5846 | -316 | c.312 others(19): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DAB2IP_chr9_121646634_121790530 | 121734082 | TAAAGATG others(309): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01884.hp2 others(21): Show |
a0001a0003a0007 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0014others(11): Show | a0001c0001t0007g0012a0001c0001t0007g0041a0001c0001t0007g0125others(19): Show | 24 | 224 | 0.1071 | -316 | c.363 others(19): Show |
DAB2IP | ENSG00000136848.19 | transcript | ENST00000408936.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DCDC1_chr11_30858603_31374739 | 31130884 | TAAAGAAA others(309): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(91): Show |
a0001a0004a0008others(14): Show | a0001c0001a0001c0002a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(91): Show | 94 | 152 | 0.6184 | -316 | c.131 others(19): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 10/38 | chr11 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132149003 | TCCTACCA others(309): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0018 | a0002c0018t0018 | a0002c0018t0018g0027 | 1 | 334 | 0.0030 | -316 | c.-50 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4685 | chr12 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31812535 | CTGCCTCA others(309): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00621.hp1 others(27): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0088a0001c0001t0001g0095others(27): Show | 30 | 204 | 0.1471 | -316 | c.144 others(19): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 20/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
DET1_chr15_88507480_88551681 | 88513782 | AAGAATAA others(309): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG02895.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0106others(2): Show | 5 | 402 | 0.0124 | -316 | c.146 others(17): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 4/4 | chr15 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1014252 | GTGTGAGA others(309): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02258.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0005 | a0002c0001t0001g0018a0002c0001t0005g0028 | 2 | 40 | 0.0500 | -316 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMD_chrX_31114222_33216549 | 31559344 | CCATAAGA others(309): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01109.hp1 others(32): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0022others(25): Show | a0001c0001t0001a0001c0002t0003a0001c0022t0001others(28): Show | a0001c0001t0001g0018a0001c0001t0001g0090a0001c0002t0003g0113others(32): Show | 35 | 126 | 0.2778 | -316 | c.821 others(21): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32373145 | TATCTTTT others(309): Show |
T | intron_variant | MODIFIER | HG02683.hp1 HG02683.hp2 HG02735.hp1 others(1): Show |
a0001a0006a0011others(1): Show | a0001c0001a0006c0006a0011c0060others(1): Show | a0001c0001t0001a0006c0006t0008a0011c0060t0003others(1): Show | a0001c0001t0001g0037a0006c0006t0008g0031a0011c0060t0003g0072others(1): Show | 4 | 126 | 0.0318 | -316 | c.484 others(19): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 34/78 | chrX | TogoVar | ||||||
DNAJA3_chr16_4420868_4461775 | 4447868 | ACCTGGCT others(309): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0026 | 2 | 345 | 0.0058 | -316 | c.112 others(17): Show |
DNAJA3 | ENSG00000103423.14 | transcript | ENST00000262375.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DTWD2_chr5_118831074_118993547 | 118965078 | ACTGCCCG others(309): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0009 | 1 | 242 | 0.0041 | -316 | c.219 others(19): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 1/5 | chr5 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225574615 | AAAAAGGC others(309): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG02886.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0028a0001c0001t0079a0002c0002t0028 | a0001c0001t0028g0067a0001c0001t0028g0068a0001c0001t0079g0013others(1): Show | 4 | 308 | 0.0130 | -316 | c.6-7 others(13): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807759 | TGCAGGCC others(309): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 314 | 0.0032 | -316 | c.*35 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3473 | chr2 | TogoVar | ||||||
GCNT1_chr9_76454182_76512416 | 76509596 | ACATAGTT others(309): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(142): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(19): Show | a0001c0001t0002g0001a0001c0001t0002g0011a0001c0001t0002g0012others(127): Show | 145 | 370 | 0.3919 | -316 | c.*59 others(11): Show |
GCNT1 | ENSG00000187210.14 | transcript | ENST00000376730.5 | protein_coding | 2181 | chr9 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 92658804 | TATATATA others(309): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02698.hp1 NA18950.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0002t0001g0015 | 3 | 34 | 0.0882 | -316 | c.244 others(19): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HACL1_chr3_15555699_15606569 | 15592550 | ATGTGTGC others(309): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0192 | 2 | 428 | 0.0047 | -316 | c.228 others(16): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1347976 | ACAGTGAG others(309): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 115 | 0.0087 | -316 | c.184 others(15): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KLHL32_chr6_96919728_97145753 | 97057165 | TGAGTATC others(309): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00642.hp2 others(69): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0099a0001c0001t0001g0111a0001c0001t0001g0112others(67): Show | 72 | 244 | 0.2951 | -316 | c.313 others(17): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124506965 | CGGGTAGA others(309): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0180 | 2 | 260 | 0.0077 | -316 | c.624 others(17): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507012 | GGGGGGTA others(309): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0126 | 2 | 260 | 0.0077 | -316 | c.624 others(17): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LSS_chr21_46183446_46233774 | 46183498 | CAGGGGAG others(309): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0002c0002others(3): Show | a0001c0004t0011a0001c0006t0007a0001c0006t0011others(4): Show | a0001c0004t0011g0244a0001c0004t0011g0245a0001c0004t0011g0246others(26): Show | 36 | 358 | 0.1006 | -316 | c.*72 others(11): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 4947 | chr21 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46183501 | GGGAGACC others(309): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01433.hp2 HG01515.hp2 others(13): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0008a0001c0004t0012a0001c0004t0019others(2): Show | a0001c0004t0008g0250a0001c0004t0008g0252a0001c0004t0008g0255others(12): Show | 16 | 358 | 0.0447 | -316 | c.*72 others(11): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 4944 | chr21 | TogoVar | ||||||
MMP20_chr11_102571832_102630332 | 102601115 | GTCGGCTA others(309): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0021a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0021t0001others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0012others(161): Show | 194 | 446 | 0.4350 | -316 | c.953 others(17): Show |
MMP20 | ENSG00000137674.4 | transcript | ENST00000260228.3 | protein_coding | 6/9 | chr11 | TogoVar |