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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1954): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 | 1 | 84 | 0.0119 | 1961 | c.-10 others(1974): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1954): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0013 | a0001c0013t0005 | a0001c0013t0005g0142 | 1 | 84 | 0.0119 | 1961 | c.-10 others(1974): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1954): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 6 | 0.1667 | 1961 | c.-8+ others(1974): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408731 | A | AGCATTTG others(1954): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 230 | 0.0043 | 1961 | c.*16 others(1972): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 712 | chr1 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1954): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 5 | 0.2000 | 1961 | c.*15 others(1972): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2124271 | A | AGGGTCAT others(1954): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0178 a0001c0003t0001g0128 |
2 | 198 | 0.0101 | 1961 | c.335 others(1980): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(1954): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0228 | 1 | 187 | 0.0053 | 1961 | c.-50 others(1972): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33486637 | C | CTGTGTTA others(1955): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0001 | 1 | 294 | 0.0034 | 1962 | c.-36 others(1973): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3458 | chr20 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(1955): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 350 | 0.0029 | 1962 | c.666 others(1977): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LKAAEAR1_chr20_64078376_64089398 | 64088734 | G | GGAGGCCA others(1955): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02698.hp2 NA18967.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 6 | 13 | 0.4615 | 1962 | c.-45 others(1973): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4337 | chr20 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1955): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 84 | 0.0119 | 1962 | c.-10 others(1975): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1955): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 NA18959.hp2 others(5): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0101 others(5): Show |
8 | 91 | 0.0879 | 1962 | c.-10 others(1975): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1955): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 84 | 0.0119 | 1962 | c.-10 others(1975): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1955): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0020 | 1 | 84 | 0.0119 | 1962 | c.-10 others(1975): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1955): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0124 | 1 | 84 | 0.0119 | 1962 | c.-10 others(1975): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64088734 | G | GGAGGCCA others(1955): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0019 | 1 | 8 | 0.1250 | 1962 | c.-18 others(1981): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(1955): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 224 | 0.0045 | 1962 | c.*39 others(1973): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1955): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 210 | 0.0048 | 1962 | c.*22 others(1973): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1955): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1962 | c.-20 others(1973): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1955): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1962 | c.-20 others(1973): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803080 | G | GGGGGCCC others(1955): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0002 | 1 | 290 | 0.0034 | 1962 | c.-51 others(1973): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4867 | chr9 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1955): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 30 | 0.0333 | 1962 | c.-42 others(1973): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(1955): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0323 | 1 | 278 | 0.0036 | 1962 | c.101 others(1979): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(1955): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 264 | 0.0038 | 1962 | c.189 others(1979): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(1956): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0005 | a0002c0005t0098 | a0002c0005t0098g0063 | 1 | 204 | 0.0049 | 1963 | c.106 others(1982): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33486637 | C | CTGTGTTA others(1956): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0282 | 1 | 294 | 0.0034 | 1963 | c.-36 others(1974): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3458 | chr20 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(1956): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0075 | 1 | 332 | 0.0030 | 1963 | c.666 others(1978): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LEPR_chr1_65415668_65646559 | 65585702 | T | TAAAATTT others(1956): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 214 | 0.0047 | 1963 | c.495 others(1980): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1956): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 84 | 0.0119 | 1963 | c.-10 others(1976): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1956): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18950.hp1 NA18953.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 others(3): Show |
6 | 89 | 0.0674 | 1963 | c.-10 others(1976): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1956): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03710.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0097 a0002c0006t0001g0096 |
2 | 85 | 0.0235 | 1963 | c.-10 others(1976): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1956): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 210 | 0.0048 | 1963 | c.*22 others(1974): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1956): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01516.hp2 HG01934.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0016 | a0001c0001t0002g0003 a0001c0001t0015g0003 a0001c0001t0016g0003 |
23 | 232 | 0.0991 | 1963 | c.*22 others(1974): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1956): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 210 | 0.0048 | 1963 | c.*22 others(1974): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1956): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG02074.hp1 HG02135.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0054 |
6 | 215 | 0.0279 | 1963 | c.*22 others(1974): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803215 | G | GGGGGCCC others(1956): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 275 | 0.0036 | 1963 | c.-49 others(1974): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4732 | chr9 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1956): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0311 a0001c0001t0006g0042 a0001c0001t0008g0347 others(4): Show |
7 | 8 | 0.8750 | 1963 | c.438 others(1980): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 30 | 0.0333 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0227 | 1 | 30 | 0.0333 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0073 | 1 | 30 | 0.0333 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0217 |
2 | 31 | 0.0645 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 30 | 0.0333 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0135 others(39): Show |
43 | 72 | 0.5972 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0310 | 1 | 30 | 0.0333 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG01069.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0272 others(16): Show |
19 | 48 | 0.3958 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp1 others(71): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0116 others(71): Show |
74 | 103 | 0.7184 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01167.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0002 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(9): Show |
12 | 41 | 0.2927 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02257.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 others(7): Show |
12 | 41 | 0.2927 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0271 | 1 | 30 | 0.0333 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38945846 | G | GTCCCAGC others(1956): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01081.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(15): Show |
18 | 47 | 0.3830 | 1963 | c.-42 others(1974): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4017 | chr1 | TogoVar |