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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0149 | 2 | 420 | 0.0048 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0006 | a0006c0024 | a0006c0024t0001 | a0006c0024t0001g0256 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0306a0001c0001t0020g0305 | 2 | 420 | 0.0048 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0051 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0136a0001c0001t0013g0182 | 2 | 420 | 0.0048 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18747.hp1 NA19080.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0004t0001g0287 | 3 | 420 | 0.0071 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18966.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0216a0001c0001t0001g0260 | 3 | 420 | 0.0071 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0271 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(981): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 420 | 0.0024 | 988 | c.107 others(1005): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGGGAAGG others(981): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0138 | 1 | 373 | 0.0027 | 988 | c.115 others(1005): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(981): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 268 | 0.0037 | 988 | c.*73 others(999): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82764813 | C | CTGTGCTC others(981): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01069.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0014a0001c0015others(2): Show | a0001c0002t0001a0001c0014t0001a0001c0015t0001others(4): Show | a0001c0002t0001g0263a0001c0002t0001g0266a0001c0002t0001g0267others(8): Show | 11 | 318 | 0.0346 | 988 | c.333 others(1003): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747371 | G | GCTGGGGT others(981): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0143 | 1 | 314 | 0.0032 | 988 | c.189 others(1003): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747551 | G | GCTGGGGT others(981): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0270 | 1 | 314 | 0.0032 | 988 | c.189 others(1003): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(981): Show |
intron_variant | MODIFIER | HG02148.hp1 NA18941.hp1 NA18942.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0011 | a0002c0002t0002g0185a0002c0002t0002g0210a0002c0002t0002g0227others(7): Show | 11 | 402 | 0.0274 | 988 | c.783 others(1003): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870635 | C | CCACACAC others(981): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 338 | 0.0030 | 988 | c.*35 others(1007): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(981): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 326 | 0.0031 | 988 | c.483 others(1003): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(982): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0116 | 1 | 360 | 0.0028 | 989 | c.170 others(1010): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(982): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0023 | 1 | 218 | 0.0046 | 989 | c.108 others(1006): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(982): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0211 | 1 | 236 | 0.0042 | 989 | c.409 others(1008): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(982): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 380 | 0.0026 | 989 | c.313 others(1004): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(982): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0184 | 1 | 363 | 0.0028 | 989 | c.37+ others(1002): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(982): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006a0001c0068 | a0001c0004t0002a0001c0006t0001a0001c0068t0004 | a0001c0004t0002g0071a0001c0004t0002g0072a0001c0006t0001g0073others(1): Show | 4 | 363 | 0.0110 | 989 | c.37+ others(1002): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(982): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 298 | 0.0034 | 989 | c.955 others(1006): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1070458 | A | ACCACCCC others(982): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0118a0001c0001t0010g0119 | 2 | 326 | 0.0061 | 989 | c.129 others(1008): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(982): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0077 | 1 | 142 | 0.0070 | 989 | c.245 others(1006): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(982): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 242 | 0.0041 | 989 | c.266 others(1006): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCCCAGGC others(982): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0008 | 1 | 106 | 0.0094 | 989 | c.169 others(1008): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(982): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 91 | 0.0110 | 989 | c.177 others(1008): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCTC others(982): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 320 | 0.0031 | 989 | c.380 others(1006): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(982): Show |
intron_variant | MODIFIER | HG01099.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0072a0001c0001t0003g0084 | 2 | 320 | 0.0063 | 989 | c.937 others(1004): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(982): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 448 | 0.0022 | 989 | c.51+ others(1004): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(982): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0074a0001c0001t0008g0094 | 2 | 448 | 0.0045 | 989 | c.51+ others(1004): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619557 | T | TCCCCTCC others(982): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 250 | 0.0040 | 989 | c.-10 others(1008): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DRD4_chr11_632269_645706 | 642849 | G | GAGGGTCA others(982): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0064 | 1 | 421 | 0.0024 | 989 | c.*22 others(1000): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2144 | chr11 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716276 | G | GTTGGTGT others(982): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 170 | 0.0059 | 989 | c.86- others(1002): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(982): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 350 | 0.0029 | 989 | c.94- others(1002): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(982): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0010 | a0010c0014 | a0010c0014t0003 | a0010c0014t0003g0002 | 1 | 282 | 0.0036 | 989 | c.258 others(1006): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(982): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0175 | 1 | 282 | 0.0036 | 989 | c.258 others(1006): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(982): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03669.hp1 NA18950.hp1 others(3): Show |
a0002a0004a0009 | a0002c0001a0004c0011a0009c0020 | a0002c0001t0002a0002c0001t0003a0002c0001t0021others(2): Show | a0002c0001t0002g0120a0002c0001t0003g0181a0002c0001t0003g0234others(3): Show | 6 | 282 | 0.0213 | 989 | c.258 others(1006): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(982): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01993.hp2 HG02074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0014a0001c0001t0002g0078others(1): Show | 5 | 318 | 0.0157 | 989 | c.-49 others(1000): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(982): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 318 | 0.0031 | 989 | c.-49 others(1000): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(982): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0005 | a0005c0035 | a0005c0035t0004 | a0005c0035t0004g0156 | 1 | 278 | 0.0036 | 989 | c.115 others(1006): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |