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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB2_chr10_1172313_1742525 | 1700283 | AGGCGCTA others(35): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0036 | a0001c0001t0012g0009a0001c0001t0036g0072 | 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 | 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 | 1701283 | GGGAGACC others(35): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0002a0002c0002t0044 | a0001c0001t0010g0025a0002c0002t0002g0075a0002c0002t0044g0049 | 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 | 276 | 0.0036 | -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 | a0001c0001t0002g0165a0001c0001t0003g0330a0001c0001t0003g0332 | 3 | 368 | 0.0082 | -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 | a0001c0001t0010g0296 | 1 | 368 | 0.0027 | -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 | a0001c0001t0003g0335 | 1 | 368 | 0.0027 | -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 | a0001c0001t0002a0001c0001t0012a0001c0001t0022others(2): Show | a0001c0001t0002g0194a0001c0001t0012g0132a0001c0001t0022g0263others(2): Show | 5 | 368 | 0.0136 | -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 | a0001c0002t0001g0161a0001c0002t0001g0176 | 2 | 368 | 0.0054 | -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 | a0001c0001t0002a0001c0001t0022a0001c0002t0001others(2): Show | a0001c0001t0002g0194a0001c0001t0022g0263a0001c0002t0001g0147others(3): Show | 8 | 368 | 0.0217 | -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 | a0001c0001t0016g0122a0001c0002t0001g0071a0001c0002t0001g0111others(5): Show | 8 | 368 | 0.0217 | -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 | a0001c0002t0019 | a0001c0002t0019g0110 | 1 | 368 | 0.0027 | -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 | a0001c0003a0001c0030 | a0001c0003t0059a0001c0030t0035 | a0001c0003t0059g0273a0001c0030t0035g0221 | 2 | 368 | 0.0054 | -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 | a0001c0001t0001g0027a0001c0002t0001g0088a0001c0031t0001g0200 | 3 | 290 | 0.0103 | -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 |
a0001a0005a0017others(1): Show | a0001c0001a0001c0002a0001c0029others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0241a0001c0002t0001g0034a0001c0002t0001g0094others(24): Show | 27 | 290 | 0.0931 | -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 | a0001c0002t0001g0258a0004c0007t0002g0005a0004c0007t0002g0006others(5): Show | 8 | 290 | 0.0276 | -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 | a0001c0003t0001g0070a0001c0010t0004g0244a0001c0010t0004g0287 | 3 | 310 | 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 | a0001c0002t0002g0217 | 1 | 310 | 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 | 120 | 0.0083 | -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 | a0001c0001t0062 | a0001c0001t0062g0087 | 1 | 262 | 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 | a0006 | a0006c0007 | a0006c0007t0013 | a0006c0007t0013g0213 | 1 | 262 | 0.0038 | -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 |
a0001a0004 | a0001c0065a0004c0019 | a0001c0065t0016a0004c0019t0097a0004c0019t0098 | a0001c0065t0016g0079a0004c0019t0097g0055a0004c0019t0098g0112 | 3 | 262 | 0.0115 | -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 | a0006 | a0006c0007 | a0006c0007t0013 | a0006c0007t0013g0213 | 1 | 262 | 0.0038 | -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 | 318 | 0.0031 | -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 | a0001c0002t0001g0204 | 1 | 326 | 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 | a0001c0002t0031 | a0001c0002t0031g0148 | 1 | 169 | 0.0059 | -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 | a0001c0001t0001g0010a0001c0001t0002g0002a0001c0001t0002g0011others(105): Show | 109 | 392 | 0.2781 | -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(183): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(167): Show | 186 | 376 | 0.4947 | -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 | a0001c0001t0001g0111a0001c0001t0005g0106a0001c0001t0006g0093others(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 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0111others(29): Show | 32 | 132 | 0.2424 | -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 |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0030a0001c0001t0002g0029a0001c0001t0002g0099others(20): Show | 23 | 104 | 0.2212 | -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 | a0001c0001t0001g0014a0001c0004t0003g0016a0002c0003t0001g0015 | 3 | 104 | 0.0289 | -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 | a0001c0001t0001g0064 | 1 | 236 | 0.0042 | -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 | 236 | 0.0042 | -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 | a0001c0001t0004g0012a0001c0001t0004g0053a0001c0001t0004g0254others(14): Show | 19 | 270 | 0.0704 | -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 |
a0001a0022 | a0001c0012a0001c0024a0001c0036others(4): Show | a0001c0012t0006a0001c0012t0017a0001c0024t0006others(5): Show | a0001c0012t0006g0056a0001c0012t0006g0163a0001c0012t0017g0145others(7): Show | 10 | 210 | 0.0476 | -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 | 350 | 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 | 268 | 0.0037 | -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 | a0001c0001t0002g0061a0001c0001t0002g0179a0001c0001t0041g0073 | 3 | 301 | 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 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0015others(39): Show | 42 | 388 | 0.1083 | -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 | a0001c0001t0010g0333 | 1 | 388 | 0.0026 | -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 | a0001c0001t0001g0009 | 4 | 418 | 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 |
a0001a0005a0007 | a0001c0001a0005c0007a0007c0008 | a0001c0001t0003a0005c0007t0004a0007c0008t0003 | a0001c0001t0003g0255a0001c0001t0003g0258a0005c0007t0004g0253others(3): Show | 6 | 274 | 0.0219 | -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 | 248 | 0.0040 | -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 | a0001c0002t0002g0266a0001c0002t0002g0267 | 2 | 345 | 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 | a0001c0001t0002g0126a0001c0001t0002g0152a0001c0001t0011g0134others(2): Show | 5 | 422 | 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 | 410 | 0.0024 | -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 | a0001c0001t0003g0020a0001c0001t0003g0028a0001c0001t0003g0093 | 4 | 458 | 0.0087 | -42 | c.-23 others(53): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2248 | chr4 | TogoVar |