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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB2_chr10_1172313_1742525 | 1700283 | AGGCGCTA others(35): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0036 | a0001c0001t0012g0009 a0001c0001t0036g0072 |
2 | 106 | 0.0189 | -42 | c.100 others(61): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1700863 | GGGAGACC others(35): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0004 | a0002c0004t0028 | a0002c0004t0028g0020 | 1 | 106 | 0.0094 | -42 | c.100 others(61): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1700989 | GGGAGACC others(35): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0004 | a0002c0004t0028 | a0002c0004t0028g0020 | 1 | 104 | 0.0096 | -42 | c.100 others(61): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1701283 | GGGAGACC others(35): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0002a0002c0002t0044 | a0001c0001t0010g0025 a0002c0002t0002g0075 a0002c0002t0044g0049 |
3 | 106 | 0.0283 | -42 | c.100 others(61): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1701367 | GGGAGACC others(35): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0057 | 1 | 106 | 0.0094 | -42 | c.100 others(61): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146691435 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0008 | a0008c0067 | a0008c0067t0002 | a0008c0067t0002g0032 | 1 | 271 | 0.0037 | -42 | c.148 others(59): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111267 | CTCCCTCC others(35): Show |
C | intron_variant | MODIFIER | HG02155.hp2 NA18747.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0213 a0001c0001t0003g0303 a0001c0001t0003g0325 |
3 | 358 | 0.0084 | -42 | c.401 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111331 | CACCTGCC others(35): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0304 | 1 | 279 | 0.0036 | -42 | c.401 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111513 | AGACACCT others(35): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0331 | 1 | 252 | 0.0040 | -42 | c.401 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111645 | CTCCCTCC others(35): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02809.hp2 HG04184.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0012a0001c0001t0023others(2): Show | a0001c0001t0002g0131 a0001c0001t0012g0230 a0001c0001t0023g0263 others(2): Show |
5 | 366 | 0.0137 | -42 | c.401 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111725 | GCACCTCC others(35): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02080.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 a0001c0002t0001g0179 |
2 | 324 | 0.0062 | -42 | c.401 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111890 | CAGACACC others(35): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01978.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0023a0001c0002t0001others(2): Show | a0001c0001t0002g0131 a0001c0001t0023g0263 a0001c0002t0001g0116 others(3): Show |
8 | 356 | 0.0225 | -42 | c.401 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111892 | GACACCTC others(35): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00738.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0016a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0016g0181 a0001c0002t0001g0076 a0001c0002t0001g0132 others(5): Show |
8 | 361 | 0.0222 | -42 | c.401 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111893 | ACACCTCC others(35): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0127 | 1 | 158 | 0.0063 | -42 | c.401 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111977 | GCACCTCC others(35): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 |
a0001 | a0001c0003a0001c0029 | a0001c0003t0055a0001c0029t0035 | a0001c0003t0055g0271 a0001c0029t0035g0074 |
2 | 325 | 0.0062 | -42 | c.401 others(59): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA3_chr4_22382376_22521066 | 22390389 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp2 HG03942.hp1 |
a0001 | a0001c0001a0001c0002a0001c0031 | a0001c0001t0001a0001c0002t0001a0001c0031t0001 | a0001c0001t0001g0026 a0001c0002t0001g0088 a0001c0031t0001g0201 |
3 | 288 | 0.0104 | -42 | c.262 others(61): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | |||||||
ADGRA3_chr4_22382376_22521066 | 22390390 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02451.hp1 others(24): Show |
a0001a0005a0012others(1): Show | a0001c0001a0001c0002a0001c0029others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0243 a0001c0002t0001g0033 a0001c0002t0001g0098 others(24): Show |
27 | 288 | 0.0938 | -42 | c.262 others(61): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | |||||||
ADGRA3_chr4_22382376_22521066 | 22390403 | AAATACGT others(35): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02132.hp1 others(5): Show |
a0001a0004a0007 | a0001c0002a0004c0007a0004c0021others(1): Show | a0001c0002t0001a0004c0007t0002a0004c0021t0001others(1): Show | a0001c0002t0001g0258 a0004c0007t0002g0005 a0004c0007t0002g0006 others(5): Show |
8 | 288 | 0.0278 | -42 | c.262 others(61): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142482732 | CCCTGGTC others(35): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03139.hp1 NA19030.hp1 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0001a0001c0010t0004 | a0001c0003t0001g0070 a0001c0010t0004g0243 a0001c0010t0004g0286 |
3 | 308 | 0.0097 | -42 | c.213 others(61): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142529796 | CTGTGAGT others(35): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0216 | 1 | 308 | 0.0032 | -42 | c.339 others(61): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69064262 | ATATTTAA others(35): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112 | 1 | 118 | 0.0085 | -42 | c.243 others(61): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113434295 | GGACCCAG others(35): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0087 | 1 | 260 | 0.0038 | -42 | c.380 others(57): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113434436 | GCGTAGAG others(35): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0006 | a0002c0006t0013 | a0002c0006t0013g0213 | 1 | 257 | 0.0039 | -42 | c.380 others(57): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113434520 | ATGTAGAG others(35): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03130.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0017a0002c0005t0090a0002c0005t0091 | a0001c0001t0017g0079 a0002c0005t0090g0055 a0002c0005t0091g0112 |
3 | 257 | 0.0117 | -42 | c.380 others(57): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113434912 | TAGGTGTA others(35): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0006 | a0002c0006t0013 | a0002c0006t0013g0213 | 1 | 241 | 0.0041 | -42 | c.380 others(59): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7918886 | AGAGACAC others(35): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0120 | 1 | 296 | 0.0034 | -42 | c.-3+ others(59): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167975802 | GCCACATT others(35): Show |
G | downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 324 | 0.0031 | -42 | c.*58 others(53): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 3780 | chr6 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148897231 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0149 | 1 | 167 | 0.0060 | -42 | c.136 others(61): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF4_chr5_132870395_132968634 | 132904184 | GAGATCGA others(35): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(106): Show |
a0001a0003a0007 | a0001c0001a0001c0007a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0119 a0001c0001t0002g0002 a0001c0001t0002g0012 others(105): Show |
109 | 390 | 0.2795 | -42 | c.108 others(59): Show |
AFF4 | ENSG00000072364.13 | transcript | ENST00000265343.10 | protein_coding | 6/20 | chr5 | TogoVar | |||||||
AFG3L2_chr18_12323944_12382227 | 12331808 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(182): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(166): Show |
185 | 194 | 0.9536 | -42 | c.217 others(61): Show |
AFG3L2 | ENSG00000141385.12 | transcript | ENST00000269143.8 | protein_coding | 16/16 | chr18 | TogoVar | |||||||
AGBL1_chr15_86074871_86921156 | 86385991 | CTCCTCCT others(35): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00735.hp1 others(38): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(34): Show | a0001c0001t0001g0111 a0001c0001t0005g0110 a0001c0001t0006g0093 others(38): Show |
41 | 132 | 0.3106 | -42 | c.237 others(63): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86636720 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG01255.hp1 others(29): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0011others(27): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0111 others(29): Show |
32 | 131 | 0.2443 | -42 | c.299 others(63): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49237512 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01071.hp1 HG01243.hp1 others(20): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0030 a0001c0001t0002g0029 a0001c0001t0002g0099 others(20): Show |
23 | 25 | 0.9200 | -42 | c.377 others(59): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 49372627 | CTTTCTTT others(35): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG03209.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0003a0002c0003t0001 | a0001c0001t0001g0014 a0001c0004t0003g0016 a0002c0003t0001g0015 |
3 | 104 | 0.0288 | -42 | c.283 others(63): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354365 | TATAGACG others(35): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 233 | 0.0043 | -42 | c.126 others(63): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354464 | GTGTGTAT others(35): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 224 | 0.0045 | -42 | c.126 others(63): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGO4_chr1_35803016_35862890 | 35845102 | TTGTAATC others(35): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01168.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0011a0001c0001t0012others(7): Show | a0001c0001t0004g0013 a0001c0001t0004g0054 a0001c0001t0004g0251 others(14): Show |
19 | 268 | 0.0709 | -42 | c.217 others(61): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1029590 | CGTGTGTG others(35): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02451.hp1 others(7): Show |
a0001a0019 | a0001c0012a0001c0024a0001c0036others(4): Show | a0001c0012t0006a0001c0012t0017a0001c0024t0006others(5): Show | a0001c0012t0006g0058 a0001c0012t0006g0158 a0001c0012t0017g0140 others(7): Show |
10 | 208 | 0.0481 | -42 | c.464 others(59): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 110027888 | GAGGGATC others(35): Show |
G | downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 348 | 0.0029 | -42 | c.*62 others(53): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 4147 | chr1 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 345084 | GTGTGTGT others(35): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0016 | 1 | 266 | 0.0038 | -42 | c.62+ others(57): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527898 | CACACACA others(35): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02451.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0041 | a0001c0001t0002g0061 a0001c0001t0002g0179 a0001c0001t0041g0073 |
3 | 300 | 0.0100 | -42 | c.125 others(63): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400241 | ATACGTAT others(35): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00733.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(39): Show |
42 | 376 | 0.1117 | -42 | c.168 others(59): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63422408 | AATATAAA others(35): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0326 | 1 | 252 | 0.0040 | -42 | c.105 others(61): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18201752 | TAGATAGA others(35): Show |
T | intron_variant | MODIFIER | HG00558.hp2 NA19002.hp1 NA19012.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 4 | 416 | 0.0096 | -42 | c.852 others(59): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3656773 | CGGTGTGG others(35): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02559.hp1 HG02559.hp2 others(3): Show |
a0001a0005a0006 | a0001c0001a0005c0007a0006c0008 | a0001c0001t0003a0005c0007t0004a0006c0008t0003 | a0001c0001t0003g0227 a0001c0001t0003g0230 a0005c0007t0004g0225 others(3): Show |
6 | 271 | 0.0221 | -42 | c.-15 others(53): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1426 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73465023 | AGGTAATT others(35): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0022 | 1 | 239 | 0.0042 | -42 | c.767 others(61): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45390998 | CTCTCCCC others(35): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0265 a0001c0002t0002g0266 |
2 | 342 | 0.0058 | -42 | c.350 others(59): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107956 | AGAAAGGA others(35): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02965.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0002t0001 | a0001c0001t0002g0132 a0001c0001t0002g0163 a0001c0001t0011g0135 others(2): Show |
5 | 420 | 0.0119 | -42 | c.168 others(59): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232385082 | AAGAAGAA others(35): Show |
A | downstream_gene_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0003 | 1 | 408 | 0.0025 | -42 | c.*32 others(53): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2194 | chr2 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516320 | ATATACGT others(35): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0003g0095 |
4 | 452 | 0.0088 | -42 | c.-23 others(53): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2248 | chr4 | TogoVar |