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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1997): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0042 | a0042c0025 | a0042c0025t0001 | a0042c0025t0001g0028 | 1 | 32 | 0.0313 | 2004 | c.218 others(2019): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377100 | T | TCCCCCTC others(1997): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0007 | a0007c0012 | a0007c0012t0003 | a0007c0012t0003g0338 | 1 | 336 | 0.0030 | 2004 | c.-11 others(2015): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1075 | chr19 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693666 | A | ACCACCAC others(1998): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 265 | 0.0038 | 2005 | c.*67 others(2016): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4980 | chr20 | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037096 | A | ATTATATA others(1998): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0190 | 1 | 238 | 0.0042 | 2005 | c.*37 others(2016): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2986 | chrX | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1998): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0017 | a0017c0045 | a0017c0045t0001 | a0017c0045t0001g0030 | 1 | 13 | 0.0769 | 2005 | c.354 others(2024): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1998): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 3 | 0.6667 | 2005 | c.44- others(2018): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1998): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 2 | 0.5000 | 2005 | c.44- others(2018): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1998): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 2 | 0.5000 | 2005 | c.44- others(2018): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1998): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 2 | 0.5000 | 2005 | c.44- others(2018): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1998): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 2 | 0.5000 | 2005 | c.44- others(2018): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1998): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0195 | 1 | 83 | 0.0120 | 2005 | c.724 others(2024): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(1998): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0006 a0005c0007t0002g0007 |
2 | 128 | 0.0156 | 2005 | c.101 others(2024): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1998): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0019 a0001c0001t0004g0105 others(3): Show |
15 | 18 | 0.8333 | 2005 | c.972 others(2018): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841443 | T | TCCACCCT others(1998): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 165 | 0.0061 | 2005 | c.361 others(2024): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(1998): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 1 | 8 | 0.1250 | 2005 | c.-20 others(2016): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1998): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0087 | 1 | 192 | 0.0052 | 2005 | c.89- others(2018): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273495 | G | GACCGCCA others(1998): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 336 | 0.0030 | 2005 | c.228 others(2024): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23044113 | T | TATCATAA others(1998): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 NA18969.hp2 NA18995.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0127 others(1): Show |
4 | 190 | 0.0211 | 2005 | c.-45 others(2016): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4545 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23044113 | T | TATCATAA others(1998): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 187 | 0.0053 | 2005 | c.-45 others(2016): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4545 | chr15 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(1999): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 154 | 0.0065 | 2006 | c.136 others(2023): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964985 | G | GTGGAAAG others(1999): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0259 | 1 | 247 | 0.0040 | 2006 | c.137 others(2023): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1999): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 50 | 0.0200 | 2006 | c.147 others(2023): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1999): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 50 | 0.0200 | 2006 | c.147 others(2023): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1999): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0142 | 1 | 76 | 0.0132 | 2006 | c.955 others(2023): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(1999): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0045 | 1 | 127 | 0.0079 | 2006 | c.101 others(2025): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(1999): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 153 | 0.0065 | 2006 | c.179 others(2025): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1999): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0102 | 1 | 4 | 0.2500 | 2006 | c.972 others(2019): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(1999): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0106 | 1 | 270 | 0.0037 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1999): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19003.hp1 NA19057.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0021 | 4 | 18 | 0.2222 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1999): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 | 1 | 15 | 0.0667 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1999): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0121 | 1 | 15 | 0.0667 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1999): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02886.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0044 a0003c0003t0001g0126 a0003c0003t0001g0127 |
4 | 18 | 0.2222 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1999): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01358.hp1 HG01884.hp2 others(17): Show |
a0003a0008 | a0003c0003a0008c0011 | a0003c0003t0001a0003c0003t0024a0008c0011t0001 | a0003c0003t0001g0010 a0003c0003t0001g0023 a0003c0003t0001g0027 others(6): Show |
20 | 34 | 0.5882 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1999): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0131 | 1 | 15 | 0.0667 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1999): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0132 | 1 | 15 | 0.0667 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1999): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0136 | 1 | 15 | 0.0667 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626087 | G | GTGACGGG others(1999): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03669.hp2 |
a0003a0012 | a0003c0003a0012c0020 | a0003c0003t0001a0012c0020t0032 | a0003c0003t0001g0122 a0012c0020t0032g0123 |
2 | 386 | 0.0052 | 2006 | c.-5+ others(2019): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313239 | T | TCCCCAGT others(1999): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 | 1 | 336 | 0.0030 | 2006 | c.327 others(2023): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23044113 | T | TATCATAA others(1999): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0089 | 1 | 187 | 0.0053 | 2006 | c.-45 others(2017): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4545 | chr15 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1999): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 146 | 0.0068 | 2006 | c.114 others(2023): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1999): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0171 |
2 | 147 | 0.0136 | 2006 | c.114 others(2023): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948633 | A | AGGGGCGT others(1999): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 47 | 0.0213 | 2006 | c.114 others(2023): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418980 | T | TTCCCTCC others(2000): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0079 | a0002c0002t0079g0186 | 1 | 228 | 0.0044 | 2007 | c.106 others(2026): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2000): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 50 | 0.0200 | 2007 | c.147 others(2024): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2000): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 50 | 0.0200 | 2007 | c.147 others(2024): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(2000): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02004.hp2 HG03710.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0130 a0001c0001t0001g0186 a0001c0001t0001g0198 others(2): Show |
5 | 93 | 0.0538 | 2007 | c.128 others(2022): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(2000): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0159 | 1 | 89 | 0.0112 | 2007 | c.128 others(2022): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2000): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 2 | 0.5000 | 2007 | c.44- others(2020): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2000): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0148 | 1 | 2 | 0.5000 | 2007 | c.126 others(2024): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586538 | C | CAAAGGTG others(2000): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0191 | 1 | 198 | 0.0051 | 2007 | c.157 others(2024): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |