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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13D_chr1_12225030_12517047 | 12250850 | AGCCATGC others(78): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0021 | a0001c0021t0014 | a0001c0021t0014g0046 | 1 | 154 | 0.0065 | -85 | c.564 others(102): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
WDR87_chr19_37879823_37911594 | 37881004 | TATATATT others(78): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 NA19030.hp2 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0090 a0006c0007t0001g0093 |
2 | 330 | 0.0061 | -85 | c.*38 others(96): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3818 | chr19 | TogoVar | |||||||
ZBED4_chr22_49848844_49895080 | 49879851 | CTGTTTCT others(78): Show |
C | intron_variant | MODIFIER | HG00741.hp1 NA19030.hp2 |
a0002 | a0002c0022a0002c0023 | a0002c0022t0002a0002c0023t0002 | a0002c0022t0002g0032 a0002c0023t0002g0034 |
2 | 316 | 0.0063 | -85 | c.-32 others(104): Show |
ZBED4 | ENSG00000100426.7 | transcript | ENST00000216268.6 | protein_coding | 1/1 | chr22 | TogoVar | |||||||
ZCWPW2_chr3_28343721_28531358 | 28380975 | GTATATAT others(78): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0196 | 1 | 254 | 0.0039 | -85 | c.-13 others(104): Show |
ZCWPW2 | ENSG00000206559.8 | transcript | ENST00000383768.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 764339 | CTGGCCGA others(78): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0014 | a0001c0014t0059 | a0001c0014t0059g0122 | 1 | 271 | 0.0037 | -85 | c.222 others(102): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
ZDHHC4_chr7_6572454_6594374 | 6577138 | AAAATAAA others(78): Show |
A | upstream_gene_variant | MODIFIER | HG02300.hp1 HG02809.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0054 |
4 | 408 | 0.0098 | -85 | c.-52 others(94): Show |
ZDHHC4 | ENSG00000136247.15 | transcript | ENST00000335965.11 | protein_coding | 315 | chr7 | TogoVar | |||||||
ZNF283_chr19_43822321_43857017 | 43852147 | TTTTGCCA others(78): Show |
T | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0005 | a0005c0003 | a0005c0003t0013 | a0005c0003t0013g0016 | 1 | 396 | 0.0025 | -85 | c.*35 others(96): Show |
ZNF283 | ENSG00000167637.18 | transcript | ENST00000618787.5 | protein_coding | 131 | chr19 | TogoVar | |||||||
ZNF335_chr20_45943660_45977203 | 45968470 | TTCTGGCT others(78): Show |
T | intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 428 | 0.0023 | -85 | c.443 others(100): Show |
ZNF335 | ENSG00000198026.8 | transcript | ENST00000322927.3 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ZNF440_chr19_11809273_11840216 | 11811899 | AGAAAGAA others(78): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01943.hp1 HG02027.hp1 others(10): Show |
a0004a0006 | a0004c0004a0006c0007 | a0004c0004t0004a0006c0007t0006 | a0004c0004t0004g0018 a0004c0004t0004g0028 a0004c0004t0004g0029 others(8): Show |
13 | 376 | 0.0346 | -85 | c.-25 others(96): Show |
ZNF440 | ENSG00000171295.13 | transcript | ENST00000304060.10 | protein_coding | 2373 | chr19 | TogoVar | |||||||
ZNF491_chr19_11793523_11813503 | 11811899 | AGAAAGAA others(78): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01943.hp1 HG02027.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 a0001c0002t0004g0023 a0001c0002t0004g0040 others(2): Show |
13 | 390 | 0.0333 | -85 | c.*46 others(96): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3397 | chr19 | TogoVar | |||||||
ZNF554_chr19_2814868_2841735 | 2817994 | TCAGAGCA others(78): Show |
T | upstream_gene_variant | MODIFIER | NA18964.hp2 NA19074.hp1 NA19090.hp1 |
a0001a0002 | a0001c0004a0001c0006a0002c0005 | a0001c0004t0003a0001c0006t0025a0002c0005t0004 | a0001c0004t0003g0240 a0001c0006t0025g0295 a0002c0005t0004g0039 |
3 | 410 | 0.0073 | -85 | c.-20 others(96): Show |
ZNF554 | ENSG00000172006.12 | transcript | ENST00000317243.10 | protein_coding | 1873 | chr19 | TogoVar | |||||||
ZNF713_chr7_55882456_55947225 | 55887706 | AGGCGGGA others(78): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0038 | a0001c0001t0003g0031 a0001c0001t0005g0001 a0001c0001t0005g0002 others(20): Show |
24 | 410 | 0.0585 | -85 | c.-58 others(101): Show |
ZNF713 | ENSG00000178665.16 | transcript | ENST00000429591.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF716_chr7_57445177_57478559 | 57445613 | AAATGTAT others(78): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0007 | 1 | 422 | 0.0024 | -85 | c.-46 others(96): Show |
ZNF716 | ENSG00000182111.9 | transcript | ENST00000420713.2 | protein_coding | 4563 | chr7 | TogoVar | |||||||
ZNF787_chr19_56082366_56126295 | 56103897 | GCCGCCGA others(78): Show |
G | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 410 | 0.0024 | -85 | c.-10 others(100): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ZNF787_chr19_56082366_56126295 | 56104158 | GCCGACCC others(78): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0021a0002c0009t0001a0002c0009t0002 | a0001c0001t0021g0069 a0002c0009t0001g0009 a0002c0009t0001g0301 others(1): Show |
5 | 410 | 0.0122 | -85 | c.-10 others(101): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ZNF81_chrX_47831902_47930627 | 47911379 | CCTTACCT others(78): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01070.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0011others(5): Show | a0001c0001t0005g0018 a0001c0001t0005g0027 a0001c0001t0005g0110 others(25): Show |
30 | 227 | 0.1322 | -85 | c.278 others(102): Show |
ZNF81 | ENSG00000197779.15 | transcript | ENST00000338637.13 | protein_coding | 4/4 | chrX | TogoVar | |||||||
ZNF862_chr7_149833375_149872479 | 149865893 | AGGGTAGA others(78): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0011 | 1 | 412 | 0.0024 | -85 | c.*16 others(96): Show |
ZNF862 | ENSG00000106479.11 | transcript | ENST00000223210.5 | protein_coding | 8/8 | 1612 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(77): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01069.hp2 HG01192.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(8): Show | a0001c0001t0001g0064 a0001c0001t0002g0197 a0001c0002t0002g0125 others(12): Show |
15 | 248 | 0.0605 | -84 | c.116 others(103): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157628880 | CGGGGAGC others(77): Show |
C | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0095 | 1 | 216 | 0.0046 | -84 | c.-32 others(93): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 17 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54002886 | GATCCGCC others(77): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 a0001c0002t0002g0108 |
2 | 272 | 0.0074 | -84 | c.62+ others(101): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39044985 | TATATGTG others(77): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 332 | 0.0030 | -84 | c.130 others(103): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100102393 | CGAAGGGG others(77): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0005a0001c0007others(47): Show | a0001c0002t0004a0001c0002t0009a0001c0002t0065others(75): Show | a0001c0002t0004g0158 a0001c0002t0009g0028 a0001c0002t0065g0072 others(89): Show |
92 | 228 | 0.4035 | -84 | c.201 others(103): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 14/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100102469 | GGGCCAAC others(77): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0104 | 1 | 228 | 0.0044 | -84 | c.201 others(103): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 14/21 | chr15 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129549796 | ATATCTAT others(77): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00639.hp1 others(63): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0017 others(62): Show |
66 | 226 | 0.2920 | -84 | c.132 others(103): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179263011 | TATTATTC others(77): Show |
T | intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0245 | 1 | 276 | 0.0036 | -84 | c.688 others(101): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72549991 | AGAGGAAG others(77): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02647.hp2 HG02970.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0004a0001c0001t0032a0001c0003t0003others(2): Show | a0001c0001t0004g0178 a0001c0001t0032g0148 a0001c0003t0003g0022 others(2): Show |
5 | 182 | 0.0275 | -84 | c.98- others(99): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1340087 | GCCCCACA others(77): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA18982.hp2 NA18984.hp2 others(1): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0016 | a0001c0001t0003a0001c0001t0057a0002c0002t0007others(1): Show | a0001c0001t0003g0098 a0001c0001t0057g0103 a0002c0002t0007g0004 others(1): Show |
4 | 106 | 0.0377 | -84 | c.107 others(105): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1340338 | CGCCCCAC others(77): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0062 | 1 | 106 | 0.0094 | -84 | c.107 others(105): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1409911 | CGAGGCCT others(77): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(52): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(47): Show | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 others(52): Show |
55 | 106 | 0.5189 | -84 | c.101 others(103): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1410181 | TCGTGGTC others(77): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03209.hp2 HG03540.hp1 |
a0001a0007 | a0001c0001a0001c0007a0007c0014 | a0001c0001t0019a0001c0007t0033a0007c0014t0020 | a0001c0001t0019g0038 a0001c0007t0033g0041 a0007c0014t0020g0037 |
3 | 106 | 0.0283 | -84 | c.101 others(103): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1410233 | GGGGAAGG others(77): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(5): Show | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 others(7): Show |
10 | 106 | 0.0943 | -84 | c.101 others(103): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1699240 | ATACACTC others(77): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG02027.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0009a0001c0001t0050a0001c0001t0055others(9): Show | a0001c0001t0009g0054 a0001c0001t0050g0077 a0001c0001t0055g0089 others(10): Show |
13 | 106 | 0.1226 | -84 | c.100 others(103): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1700821 | GGGAGACC others(77): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0002a0002c0002t0044 | a0001c0001t0010g0025 a0002c0002t0002g0075 a0002c0002t0044g0049 |
3 | 106 | 0.0283 | -84 | c.100 others(103): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1700931 | GCAATCCC others(77): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp1 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0050a0005c0011t0006 | a0001c0001t0050g0077 a0005c0011t0006g0014 |
2 | 106 | 0.0189 | -84 | c.100 others(103): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1700947 | GGGAGACC others(77): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG03139.hp1 HG04184.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0009a0001c0001t0061a0001c0003t0001others(2): Show | a0001c0001t0009g0054 a0001c0001t0061g0087 a0001c0003t0001g0052 others(2): Show |
5 | 106 | 0.0472 | -84 | c.100 others(103): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111225 | CTCCCTCC others(77): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 368 | 0.0027 | -84 | c.401 others(101): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111247 | AACCTGCC others(77): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0192 | 1 | 368 | 0.0027 | -84 | c.401 others(101): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111603 | CTCCCTCC others(77): Show |
C | intron_variant | MODIFIER | HG01517.hp1 HG02895.hp2 HG02896.hp1 others(2): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0026 | a0001c0001t0002a0001c0001t0024a0001c0002t0006others(1): Show | a0001c0001t0002g0112 a0001c0001t0002g0239 a0001c0001t0024g0115 others(2): Show |
5 | 368 | 0.0136 | -84 | c.401 others(101): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111641 | ACACCTCC others(77): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0235 a0001c0001t0017g0052 |
2 | 368 | 0.0054 | -84 | c.401 others(101): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111723 | GGGCACCT others(77): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0260 | 1 | 368 | 0.0027 | -84 | c.401 others(101): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111767 | ACACCTCC others(77): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0331 | 1 | 368 | 0.0027 | -84 | c.401 others(101): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111850 | GGCACCTC others(77): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02698.hp1 HG03540.hp2 others(6): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0048others(4): Show | a0001c0001t0005g0039 a0001c0001t0010g0324 a0001c0001t0048g0284 others(6): Show |
9 | 368 | 0.0245 | -84 | c.401 others(101): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111893 | ACACCTCC others(77): Show |
A | intron_variant | MODIFIER | NA18747.hp2 NA18967.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0007 | a0001c0001t0003g0330 a0001c0002t0007g0301 |
2 | 368 | 0.0054 | -84 | c.401 others(101): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113434310 | ACGTAGAG others(77): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0008 | a0001c0008t0101 | a0001c0008t0101g0008 | 1 | 262 | 0.0038 | -84 | c.380 others(99): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167976384 | ACAGTGGG others(77): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0202 | 1 | 326 | 0.0031 | -84 | c.*64 others(95): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 4362 | chr6 | TogoVar | |||||||
AGBL1_chr15_86074871_86921156 | 86827302 | TGTATATA others(77): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02602.hp1 |
a0002a0011 | a0002c0060a0011c0061 | a0002c0060t0004a0011c0061t0001 | a0002c0060t0004g0072 a0011c0061t0001g0066 |
2 | 132 | 0.0152 | -84 | c.315 others(105): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | chr15 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 49332104 | CTTTTCTC others(77): Show |
C | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 | 1 | 104 | 0.0096 | -84 | c.283 others(103): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132821805 | GTGTATGT others(77): Show |
G | intron_variant | MODIFIER | HG02165.hp1 HG02523.hp2 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0056 others(1): Show |
4 | 266 | 0.0150 | -84 | c.889 others(101): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112843496 | AGCCACTG others(77): Show |
A | upstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 270 | 0.0037 | -84 | c.-34 others(95): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 2666 | chrX | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516320 | ATATACGT others(77): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG03927.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0096 a0001c0002t0001g0072 |
4 | 458 | 0.0087 | -84 | c.-23 others(95): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2248 | chr4 | TogoVar |