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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(4569): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 16 | 0.0625 | 4576 | c.164 others(4595): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(4569): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 190 | 0.0053 | 4576 | c.902 others(4591): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(4570): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0016 | a0016c0013 | a0016c0013t0003 | a0016c0013t0003g0011 | 1 | 126 | 0.0079 | 4577 | c.193 others(4596): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544163 | G | GAGGGGAC others(4571): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0089 | 1 | 270 | 0.0037 | 4578 | c.153 others(4597): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160609142 | C | CTAATCAT others(4572): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0019 | a0002c0019t0002 | a0002c0019t0002g0014 | 1 | 146 | 0.0068 | 4579 | c.260 others(4598): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 16/38 | chr6 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4574): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0267 | 1 | 6 | 0.1667 | 4581 | c.179 others(4600): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(4574): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0170 | 1 | 87 | 0.0115 | 4581 | c.773 others(4596): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SHOC1_chr9_111681171_111799937 | 111781831 | C | CAGAATAT others(4574): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0168 | 1 | 294 | 0.0034 | 4581 | c.170 others(4596): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 3/27 | chr9 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4575): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 55 | 0.0182 | 4582 | c.891 others(4597): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(4575): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0087 | 1 | 86 | 0.0116 | 4582 | c.269 others(4601): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4577): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0266 | 1 | 6 | 0.1667 | 4584 | c.179 others(4603): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4577): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0264 | 1 | 6 | 0.1667 | 4584 | c.179 others(4603): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646099 | C | CTCCCTCA others(4577): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0023 | 1 | 169 | 0.0059 | 4584 | c.-35 others(4605): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4578): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0125 |
2 | 56 | 0.0357 | 4585 | c.891 others(4600): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4579): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0076 | 1 | 286 | 0.0035 | 4586 | c.514 others(4603): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4580): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 225 | 0.0044 | 4587 | c.*35 others(4598): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(4582): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0024 | a0024c0034 | a0024c0034t0004 | a0024c0034t0004g0090 | 1 | 32 | 0.0313 | 4589 | c.218 others(4604): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4582): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 225 | 0.0044 | 4589 | c.*35 others(4600): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4582): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 225 | 0.0044 | 4589 | c.*35 others(4600): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105238530 | G | GCAGCCCC others(4583): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 61 | 0.0164 | 4590 | c.694 others(4607): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4583): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 55 | 0.0182 | 4590 | c.891 others(4605): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4583): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 225 | 0.0044 | 4590 | c.225 others(4607): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432182 | A | ATAGGGTG others(4583): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 | 1 | 374 | 0.0027 | 4590 | c.101 others(4607): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88501492 | C | CATCCCGC others(4583): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0013 | a0013c0060 | a0013c0060t0038 | a0013c0060t0038g0134 | 1 | 271 | 0.0037 | 4590 | c.268 others(4609): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
ZMYND8_chr20_47204214_47361699 | 47217620 | A | AGTCTTGG others(4583): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0017 | 1 | 206 | 0.0049 | 4590 | c.348 others(4609): Show |
ZMYND8 | ENSG00000101040.20 | transcript | ENST00000471951.7 | protein_coding | 21/22 | chr20 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4584): Show |
intron_variant | MODIFIER | NA19067.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0197 |
2 | 30 | 0.0667 | 4591 | c.109 others(4606): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4584): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 29 | 0.0345 | 4591 | c.109 others(4606): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4584): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18997.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0207 |
3 | 31 | 0.0968 | 4591 | c.109 others(4606): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045949 | C | TCAACACC others(4584): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 368 | 0.0027 | 4591 | c.109 others(4606): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586453 | G | GGGGGAAA others(4584): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0231 | 1 | 289 | 0.0035 | 4591 | c.157 others(4608): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4584): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 3 | 0.3333 | 4591 | c.-34 others(4606): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693549 | A | ACCACCTC others(4584): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0002 | 1 | 49 | 0.0204 | 4591 | c.299 others(4608): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150015 | T | TCACACCA others(4585): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0004 | a0004c0041 | a0004c0041t0001 | a0004c0041t0001g0002 | 1 | 110 | 0.0091 | 4592 | c.902 others(4607): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4585): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0323 | 1 | 286 | 0.0035 | 4592 | c.514 others(4609): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4586): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0328 | 1 | 286 | 0.0035 | 4593 | c.514 others(4610): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4586): Show |
intron_variant | MODIFIER | NA18992.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0309 a0001c0001t0005g0331 |
2 | 287 | 0.0070 | 4593 | c.514 others(4610): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4586): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01928.hp1 HG01934.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0307 a0001c0001t0005g0310 a0001c0001t0005g0312 others(12): Show |
15 | 300 | 0.0500 | 4593 | c.514 others(4610): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4586): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18970.hp2 NA18985.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0311 a0001c0001t0005g0320 a0001c0001t0005g0322 others(2): Show |
5 | 290 | 0.0172 | 4593 | c.514 others(4610): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4587): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(1): Show |
4 | 289 | 0.0138 | 4594 | c.514 others(4611): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4587): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 others(42): Show |
52 | 337 | 0.1543 | 4594 | c.514 others(4611): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4587): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0308 | 1 | 286 | 0.0035 | 4594 | c.514 others(4611): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4587): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0355 | 1 | 286 | 0.0035 | 4594 | c.514 others(4611): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4587): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0340 | 1 | 286 | 0.0035 | 4594 | c.514 others(4611): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4588): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0152 | 1 | 8 | 0.1250 | 4595 | c.-45 others(4604): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4588): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0200 | 1 | 286 | 0.0035 | 4595 | c.514 others(4612): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4588): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0078 | 1 | 286 | 0.0035 | 4595 | c.514 others(4612): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4588): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 286 | 0.0035 | 4595 | c.514 others(4612): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4588): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01257.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 a0001c0001t0004g0339 a0001c0001t0004g0341 others(18): Show |
22 | 307 | 0.0717 | 4595 | c.514 others(4612): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4588): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0343 | 1 | 286 | 0.0035 | 4595 | c.514 others(4612): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66793679 | G | GTACCTGC others(4588): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0350 | 1 | 286 | 0.0035 | 4595 | c.514 others(4612): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |