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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(3275): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 290 | 0.0035 | 3282 | c.162 others(3301): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(3275): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 290 | 0.0035 | 3282 | c.162 others(3301): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
JADE3_chrX_46907421_47066242 | 47045672 | T | TAAAAATT others(3275): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 258 | 0.0039 | 3282 | c.972 others(3299): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PTGR1_chr9_111557567_111604647 | 111578316 | T | TTATTTCT others(3275): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0147 | 1 | 408 | 0.0025 | 3282 | c.651 others(3297): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(3276): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0035 | 1 | 290 | 0.0035 | 3283 | c.162 others(3302): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACTC others(3277): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 40 | 0.0250 | 3284 | c.*14 others(3295): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | ||||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3277): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001a0001c0001t0007g0002 | 2 | 314 | 0.0064 | 3284 | c.-26 others(3303): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3278): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0005 | a0005c0013 | a0005c0013t0005 | a0005c0013t0005g0279 | 1 | 334 | 0.0030 | 3285 | c.147 others(3302): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(3278): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 290 | 0.0035 | 3285 | c.162 others(3304): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877103 | G | AGTTATGG others(3278): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 274 | 0.0037 | 3285 | c.224 others(3304): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3278): Show |
intron_variant | MODIFIER | HG02486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0172a0001c0001t0015g0165 | 2 | 314 | 0.0064 | 3285 | c.-26 others(3304): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3278): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 1 | 314 | 0.0032 | 3285 | c.-26 others(3304): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3278): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0067 | a0067c0079 | a0067c0079t0004 | a0067c0079t0004g0224 | 1 | 282 | 0.0036 | 3285 | c.299 others(3300): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
CPOX_chr3_98574446_98598611 | 98582923 | A | ACTATTTA others(3279): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 448 | 0.0022 | 3286 | c.117 others(3305): Show |
CPOX | ENSG00000080819.9 | transcript | ENST00000647941.2 | protein_coding | 5/6 | chr3 | TogoVar | ||||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3279): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0170 | 1 | 314 | 0.0032 | 3286 | c.-26 others(3305): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 166362 | G | GCTCTGAC others(3279): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0011 | a0011c0023 | a0011c0023t0044 | a0011c0023t0044g0187 | 1 | 210 | 0.0048 | 3286 | c.347 others(3305): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3279): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0241 | 1 | 276 | 0.0036 | 3286 | c.58- others(3303): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236714007 | T | TGTATACA others(3280): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 344 | 0.0029 | 3287 | c.127 others(3304): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3280): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 316 | 0.0032 | 3287 | c.44- others(3300): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3280): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 268 | 0.0037 | 3287 | c.139 others(3308): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(3280): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0355 | 1 | 375 | 0.0027 | 3287 | c.-19 others(3298): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3281): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 342 | 0.0029 | 3288 | c.366 others(3305): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(3281): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0019 | 1 | 290 | 0.0035 | 3288 | c.162 others(3307): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3281): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0039 | a0039c0057 | a0039c0057t0053 | a0039c0057t0053g0243 | 1 | 292 | 0.0034 | 3288 | c.218 others(3303): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NCOA1_chr2_24486254_24775702 | 24573887 | T | TAGAAGTA others(3281): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0171 | 1 | 314 | 0.0032 | 3288 | c.-26 others(3307): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811204 | T | TTCCCTCC others(3281): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 178 | 0.0056 | 3288 | c.773 others(3303): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TACCCTCC others(3281): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0087 | 1 | 178 | 0.0056 | 3288 | c.773 others(3303): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCACCAT others(3281): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG03927.hp2 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0009 | a0001c0003t0007g0000a0001c0003t0009g0000 | 2 | 99 | 0.0202 | 3288 | c.*41 others(3299): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(3282): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 290 | 0.0035 | 3289 | c.162 others(3308): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915957 | A | AGTGGTTG others(3282): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0010 | a0010c0028 | a0010c0028t0023 | a0010c0028t0023g0237 | 1 | 274 | 0.0037 | 3289 | c.179 others(3308): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(3282): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0356 | 1 | 375 | 0.0027 | 3289 | c.-19 others(3300): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104806603 | A | ACCTCCAC others(3282): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0000 | 1 | 99 | 0.0101 | 3289 | c.*41 others(3300): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1892 | chr14 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCC others(3283): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0036 | 1 | 290 | 0.0035 | 3290 | c.162 others(3309): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3283): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0104a0001c0002t0002g0080 | 2 | 268 | 0.0075 | 3290 | c.139 others(3311): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222809 | C | CTGGAGGG others(3283): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0176a0005c0006t0001g0189 | 2 | 190 | 0.0105 | 3290 | c.719 others(3309): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3283): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0003 | a0001c0003t0063 | a0001c0003t0063g0197 | 1 | 250 | 0.0040 | 3290 | c.-21 others(3307): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3284): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0243 | 1 | 298 | 0.0034 | 3291 | c.955 others(3308): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3284): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01169.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0154a0001c0002t0003g0046 | 2 | 268 | 0.0075 | 3291 | c.139 others(3312): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3284): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 167 | 0.0060 | 3291 | c.*53 others(3302): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACTC others(3285): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 40 | 0.0250 | 3292 | c.*14 others(3303): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(3285): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0094 | a0094c0040 | a0094c0040t0001 | a0094c0040t0001g0032 | 1 | 174 | 0.0058 | 3292 | c.193 others(3311): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(3285): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0279 | 1 | 290 | 0.0035 | 3292 | c.129 others(3311): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3285): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0055 | a0001c0003t0055g0196 | 1 | 250 | 0.0040 | 3292 | c.-21 others(3309): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3286): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 40 | 0.0250 | 3293 | c.*14 others(3304): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948419 | A | ATGGTGGT others(3286): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0070 | a0002c0070t0002 | a0002c0070t0002g0094 | 1 | 136 | 0.0074 | 3293 | c.47- others(3310): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
F13A1_chr6_6139084_6325662 | 6261580 | G | GCCCTCCA others(3286): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0277 | 1 | 292 | 0.0034 | 3293 | c.571 others(3310): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3286): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 423 | 0.0024 | 3293 | c.*19 others(3304): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3286): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0016 | 1 | 126 | 0.0079 | 3293 | c.-28 others(3312): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3287): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0015 | a0015c0034 | a0015c0034t0005 | a0015c0034t0005g0282 | 1 | 334 | 0.0030 | 3294 | c.147 others(3311): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3287): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 316 | 0.0032 | 3294 | c.44- others(3307): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |