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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM23_chr2_206438532_206626127 | 206477897 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02055.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0132a0001c0001t0001g0133others(1): Show | 4 | 358 | 0.0112 | 17 | c.433 others(34): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | chr2 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24514043 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0155a0001c0002t0004g0161 | 2 | 360 | 0.0056 | 17 | c.*54 others(28): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 4479 | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39079415 | T | TTCCATGT others(10): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 332 | 0.0030 | 17 | c.188 others(36): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01255.hp2 HG01358.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001a0002c0005t0002 | a0001c0002t0001g0111a0001c0002t0001g0112a0001c0002t0001g0116others(4): Show | 7 | 384 | 0.0182 | 17 | c.320 others(34): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8612550 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG04228.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0201a0001c0001t0001g0222 | 3 | 384 | 0.0078 | 17 | c.-21 others(28): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1836 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33544418 | T | TGAAAATG others(10): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02572.hp1 others(4): Show |
a0003a0022 | a0003c0005a0003c0023a0022c0051 | a0003c0005t0006a0003c0023t0006a0022c0051t0006 | a0003c0005t0006g0086a0003c0005t0006g0134a0003c0005t0006g0165others(4): Show | 7 | 224 | 0.0313 | 17 | c.444 others(36): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 22/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33698627 | C | CCCATTTC others(10): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03704.hp1 HG03942.hp1 |
a0002a0015 | a0002c0002a0015c0059 | a0002c0002t0002a0002c0002t0003a0015c0059t0003 | a0002c0002t0002g0081a0002c0002t0003g0152a0015c0059t0003g0222 | 3 | 224 | 0.0134 | 17 | c.635 others(36): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33698627 | C | CCCATTTC others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(161): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0008others(41): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(62): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0013others(161): Show | 164 | 224 | 0.7321 | 17 | c.635 others(36): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133428882 | T | TCCCACCC others(10): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18990.hp2 NA19081.hp2 |
a0001 | a0001c0011a0001c0044 | a0001c0011t0001a0001c0044t0001 | a0001c0011t0001g0157a0001c0011t0001g0158a0001c0044t0001g0153 | 3 | 364 | 0.0082 | 17 | c.824 others(32): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTS13_chr9_133417367_133464386 | 133460459 | A | AGGGCGGG others(10): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG03486.hp1 |
a0001a0002 | a0001c0029a0002c0002 | a0001c0029t0001a0002c0002t0001 | a0001c0029t0001g0303a0002c0002t0001g0104 | 2 | 364 | 0.0055 | 17 | c.*12 others(28): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1074 | chr9 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70671015 | C | CCTTCTCT others(10): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0041 | a0003c0041t0019 | a0003c0041t0019g0336 | 1 | 354 | 0.0028 | 17 | c.-17 others(28): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1490 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70671035 | T | TTCTCTCT others(10): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0001 | a0002c0001t0035 | a0002c0001t0035g0008 | 1 | 354 | 0.0028 | 17 | c.-17 others(28): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1470 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70671050 | T | TTTCTCTC others(10): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0265 | 1 | 354 | 0.0028 | 17 | c.-17 others(28): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1455 | chr10 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977400 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0022 | a0002c0022t0035 | a0002c0022t0035g0040 | 1 | 228 | 0.0044 | 17 | c.295 others(36): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100001976 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02965.hp1 |
a0001a0006 | a0001c0033a0006c0049 | a0001c0033t0015a0006c0049t0015 | a0001c0033t0015g0178a0006c0049t0015g0210 | 2 | 228 | 0.0088 | 17 | c.259 others(36): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100091010 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18955.hp2 NA19000.hp2 |
a0003a0004 | a0003c0015a0004c0054 | a0003c0015t0003a0004c0054t0001 | a0003c0015t0003g0041a0004c0054t0001g0080 | 2 | 228 | 0.0088 | 17 | c.213 others(36): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314786 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0006 | a0006c0005 | a0006c0005t0003 | a0006c0005t0003g0120 | 1 | 326 | 0.0031 | 17 | c.253 others(36): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129645885 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0042a0001c0001t0004g0052 | 2 | 226 | 0.0089 | 17 | c.187 others(36): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 226 | 0.0044 | 17 | c.316 others(36): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43354538 | T | TACCATAC others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(54): Show |
a0001a0004a0009others(3): Show | a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(7): Show | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0129others(54): Show | 57 | 306 | 0.1863 | 17 | c.564 others(34): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 38/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 NA18906.hp1 |
a0001a0010 | a0001c0002a0010c0030 | a0001c0002t0001a0010c0030t0001 | a0001c0002t0001g0020a0001c0002t0001g0052a0010c0030t0001g0243 | 3 | 306 | 0.0098 | 17 | c.428 others(38): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02897.hp2 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0232a0001c0001t0001g0241a0001c0001t0003g0002 | 3 | 306 | 0.0098 | 17 | c.428 others(36): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02683.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100a0001c0002t0001g0104 | 2 | 306 | 0.0065 | 17 | c.161 others(36): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01346.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0072a0001c0002t0001g0103a0001c0002t0001g0106others(10): Show | 13 | 306 | 0.0425 | 17 | c.161 others(36): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp1 HG01257.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0018a0001c0022a0002c0007others(4): Show | a0001c0018t0002a0001c0022t0002a0002c0007t0002others(4): Show | a0001c0018t0002g0161a0001c0022t0002g0028a0001c0022t0002g0042others(9): Show | 12 | 276 | 0.0435 | 17 | c.163 others(34): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72417931 | T | TTAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01175.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0032others(7): Show | a0001c0001t0001g0075a0001c0001t0001g0105a0001c0001t0001g0112others(12): Show | 15 | 182 | 0.0824 | 17 | c.505 others(34): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72451700 | A | AAATTATA others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0088 | 1 | 182 | 0.0055 | 17 | c.505 others(36): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161188909 | T | TATATATA others(10): Show |
3_prime_UTR_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0002 | a0001c0002t0210 | a0001c0002t0210g0243 | 1 | 374 | 0.0027 | 17 | c.*22 others(28): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2228 | chr1 | TogoVar | |||||
ADAMTS6_chr5_65143738_65486920 | 65319725 | G | GAGGGAGG others(10): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 204 | 0.0049 | 17 | c.122 others(36): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65319729 | G | GAGGGAGG others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01071.hp1 others(28): Show |
a0001a0004 | a0001c0001a0001c0010a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0036others(28): Show | 31 | 204 | 0.1520 | 17 | c.122 others(36): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0054 | 1 | 286 | 0.0035 | 17 | c.*6- others(30): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG01261.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0019a0001c0004t0001others(6): Show | a0001c0001t0001g0087a0001c0001t0001g0093a0001c0001t0001g0102others(23): Show | 26 | 286 | 0.0909 | 17 | c.*6- others(30): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688687 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0164 | 1 | 218 | 0.0046 | 17 | c.157 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0212 | 1 | 218 | 0.0046 | 17 | c.157 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02015.hp2 |
a0001a0007 | a0001c0002a0007c0071 | a0001c0002t0030a0007c0071t0002 | a0001c0002t0030g0083a0007c0071t0002g0104 | 2 | 218 | 0.0092 | 17 | c.157 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02074.hp1 HG03491.hp1 |
a0001a0026 | a0001c0005a0001c0006a0026c0032 | a0001c0005t0007a0001c0006t0001a0026c0032t0004 | a0001c0005t0007g0215a0001c0006t0001g0084a0026c0032t0004g0105 | 3 | 218 | 0.0138 | 17 | c.157 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0029 | 1 | 218 | 0.0046 | 17 | c.157 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18703701 | C | CATATATA others(10): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0018 | a0002c0018t0004 | a0002c0018t0004g0059 | 1 | 218 | 0.0046 | 17 | c.157 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18752090 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0007a0001c0006t0001 | a0001c0005t0007g0214a0001c0005t0007g0215a0001c0006t0001g0065 | 3 | 218 | 0.0138 | 17 | c.200 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18828660 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0019 | a0019c0067 | a0019c0067t0002 | a0019c0067t0002g0079 | 1 | 218 | 0.0046 | 17 | c.411 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18828660 | T | TTTATATA others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01168.hp2 HG01256.hp2 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0005a0001c0008others(6): Show | a0001c0002t0002a0001c0005t0002a0001c0008t0004others(6): Show | a0001c0002t0002g0064a0001c0005t0002g0216a0001c0008t0004g0055others(7): Show | 10 | 218 | 0.0459 | 17 | c.411 others(36): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0040 | a0001c0040t0003 | a0001c0040t0003g0024 | 1 | 218 | 0.0046 | 17 | c.425 others(38): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0108 | 1 | 274 | 0.0037 | 17 | c.318 others(34): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 274 | 0.0037 | 17 | c.318 others(34): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | chr15 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 897651 | A | AGGGGGCA others(10): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG04115.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007 | 3 | 14 | 0.2143 | 17 | c.*12 others(28): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 248 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 897656 | G | GCACCTGG others(10): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 14 | 0.0714 | 17 | c.*12 others(28): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 243 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 902779 | A | ACCCTTGC others(10): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 14 | 0.0714 | 17 | c.648 others(34): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 6/10 | chr7 | TogoVar | ||||||
ADAP2_chr17_30916945_30964322 | 30917021 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01081.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0157a0001c0001t0001g0174others(26): Show | 30 | 282 | 0.1064 | 17 | c.-49 others(28): Show |
ADAP2 | ENSG00000184060.11 | transcript | ENST00000330889.8 | protein_coding | 4923 | chr17 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45134235 | G | GGGTGTGT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(279): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(101): Show | a0001c0001t0002g0023a0001c0001t0002g0024a0001c0001t0002g0025others(275): Show | 282 | 350 | 0.8057 | 17 | c.-48 others(34): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45191880 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0016 | a0002c0016t0073 | a0002c0016t0073g0047 | 1 | 350 | 0.0029 | 17 | c.156 others(36): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |