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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM7_chr8_24436026_24514565 | 24447937 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01361.hp1 others(9): Show |
a0001a0015 | a0001c0001a0001c0010a0001c0013others(1): Show | a0001c0001t0002a0001c0010t0001a0001c0013t0001others(1): Show | a0001c0001t0002g0046a0001c0001t0002g0047a0001c0001t0002g0048others(8): Show | 12 | 360 | 0.0333 | -18 | c.233 others(33): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS12_chr5_33518535_33896990 | 33521396 | AATATATA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00621.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0003t0004others(6): Show | a0001c0001t0003g0047a0001c0001t0003g0136a0001c0001t0005g0015others(9): Show | 12 | 224 | 0.0536 | -18 | c.*57 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2138 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33580435 | TCCCATGA others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01081.hp2 others(30): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0003a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(24): Show | a0001c0001t0001g0021a0001c0001t0001g0068a0001c0001t0001g0070others(30): Show | 33 | 224 | 0.1473 | -18 | c.286 others(37): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 18/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33713381 | GTTTTAAC others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(181): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0003a0001c0008others(54): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(81): Show | a0001c0001t0001g0007a0001c0001t0001g0024a0001c0001t0001g0025others(181): Show | 184 | 224 | 0.8214 | -18 | c.635 others(37): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33835947 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02523.hp2 HG02683.hp1 others(13): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0027others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0027t0004others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0014others(13): Show | 16 | 224 | 0.0714 | -18 | c.489 others(37): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70671100 | TCTCTCTC others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02559.hp2 others(4): Show |
a0001a0015 | a0001c0007a0001c0038a0001c0058others(4): Show | a0001c0007t0013a0001c0038t0043a0001c0058t0045others(4): Show | a0001c0007t0013g0347a0001c0038t0043g0342a0001c0058t0045g0343others(4): Show | 7 | 354 | 0.0198 | -18 | c.-17 others(29): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1405 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70719367 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0187 | 1 | 354 | 0.0028 | -18 | c.871 others(35): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5212196 | TTTGTTTT others(11): Show |
T | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 332 | 0.0030 | -18 | c.160 others(37): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5305104 | TCCCACAC others(11): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01167.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0030a0001c0031others(4): Show | a0001c0001t0002a0001c0001t0014a0001c0030t0003others(9): Show | a0001c0001t0002g0010a0001c0001t0014g0323a0001c0030t0003g0062others(11): Show | 14 | 332 | 0.0422 | -18 | c.318 others(37): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 99977383 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01106.hp2 others(10): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0005a0001c0007others(8): Show | a0001c0002t0005a0001c0002t0009a0001c0005t0012others(10): Show | a0001c0002t0005g0148a0001c0002t0009g0028a0001c0005t0012g0211others(10): Show | 13 | 228 | 0.0570 | -18 | c.295 others(37): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977384 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03579.hp2 HG03688.hp1 |
a0002a0006 | a0002c0001a0002c0073a0006c0016 | a0002c0001t0012a0002c0073t0051a0006c0016t0012 | a0002c0001t0012g0079a0002c0073t0051g0183a0006c0016t0012g0201 | 3 | 228 | 0.0132 | -18 | c.295 others(37): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977392 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0025 | a0001c0025t0008 | a0001c0025t0008g0208 | 1 | 228 | 0.0044 | -18 | c.295 others(37): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100253352 | AGGGAGGG others(11): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG02071.hp2 HG03098.hp2 others(1): Show |
a0001a0005a0006 | a0001c0021a0005c0020a0005c0036others(1): Show | a0001c0021t0005a0005c0020t0005a0005c0036t0002others(1): Show | a0001c0021t0005g0219a0005c0020t0005g0220a0005c0036t0002g0140others(1): Show | 4 | 228 | 0.0175 | -18 | c.107 others(35): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314769 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01258.hp1 HG02698.hp2 others(2): Show |
a0005 | a0005c0004a0005c0052 | a0005c0004t0001a0005c0052t0042 | a0005c0004t0001g0156a0005c0004t0001g0221a0005c0004t0001g0224others(2): Show | 5 | 326 | 0.0153 | -18 | c.253 others(37): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77436031 | TGTGTGTG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(29): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0025a0001c0035others(16): Show | a0001c0001t0002a0001c0025t0003a0001c0035t0020others(18): Show | a0001c0001t0002g0001a0001c0001t0002g0263a0001c0001t0002g0265others(28): Show | 32 | 326 | 0.0982 | -18 | c.-13 others(29): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 998 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129638561 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02896.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0007a0001c0008t0004 | a0001c0001t0001g0055a0001c0001t0001g0118a0001c0001t0007g0041others(1): Show | 4 | 226 | 0.0177 | -18 | c.177 others(37): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658327 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | NA19000.hp2 NA19081.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0213a0001c0003t0001g0214 | 2 | 226 | 0.0089 | -18 | c.230 others(35): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129675927 | CTGAGGCA others(11): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0054 | 1 | 226 | 0.0044 | -18 | c.250 others(37): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129733944 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02074.hp2 NA18972.hp1 NA19065.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153a0001c0001t0001g0183a0001c0001t0001g0219others(1): Show | 4 | 226 | 0.0177 | -18 | c.331 others(35): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43356339 | TCCATTAT others(11): Show |
T | intron_variant | MODIFIER | NA18968.hp1 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0007 | 1 | 306 | 0.0033 | -18 | c.564 others(35): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 38/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405416 | TCTAATAA others(11): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 NA18940.hp2 others(16): Show |
a0001a0002 | a0001c0009a0002c0004a0002c0027 | a0001c0009t0001a0002c0004t0001a0002c0004t0002others(1): Show | a0001c0009t0001g0172a0002c0004t0001g0015a0002c0004t0001g0251others(16): Show | 19 | 306 | 0.0621 | -18 | c.428 others(37): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179264933 | CGCGCTGA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(51): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0018others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0002others(30): Show | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0100others(51): Show | 54 | 276 | 0.1957 | -18 | c.688 others(35): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277725 | CCGAGACC others(11): Show |
C | intron_variant | MODIFIER | NA18971.hp2 | a0021 | a0021c0088 | a0021c0088t0003 | a0021c0088t0003g0214 | 1 | 276 | 0.0036 | -18 | c.535 others(35): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277863 | CCCTGAGA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02148.hp1 |
a0001a0005 | a0001c0018a0005c0019 | a0001c0018t0002a0005c0019t0003 | a0001c0018t0002g0178a0005c0019t0003g0160 | 2 | 276 | 0.0073 | -18 | c.535 others(35): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72373899 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01167.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0092a0001c0001t0001g0109a0001c0001t0001g0110others(18): Show | 21 | 182 | 0.1154 | -18 | c.662 others(37): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72526733 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0009 | a0009c0014 | a0009c0014t0031 | a0009c0014t0031g0074 | 1 | 182 | 0.0055 | -18 | c.504 others(37): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550039 | AGAAGAGG others(11): Show |
A | intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061 | 1 | 182 | 0.0055 | -18 | c.98- others(33): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161183467 | ATTTTTTT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0009a0001c0001t0058a0001c0001t0154others(59): Show | a0001c0001t0009g0130a0001c0001t0058g0129a0001c0001t0154g0116others(70): Show | 100 | 374 | 0.2674 | -18 | c.*76 others(29): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 834 | chr1 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65288308 | CTTTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 204 | 0.0049 | -18 | c.151 others(37): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78806113 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0010 | a0010c0113 | a0010c0113t0003 | a0010c0113t0003g0141 | 1 | 380 | 0.0026 | -18 | c.100 others(35): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78806121 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00621.hp2 NA18946.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0003a0001c0006t0001g0034a0001c0006t0001g0035 | 4 | 380 | 0.0105 | -18 | c.100 others(35): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78806123 | CACACAAA others(11): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01258.hp1 others(1): Show |
a0001a0047 | a0001c0006a0047c0086 | a0001c0006t0001a0047c0086t0001 | a0001c0006t0001g0030a0001c0006t0001g0032a0001c0006t0001g0033others(1): Show | 4 | 380 | 0.0105 | -18 | c.100 others(35): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78806125 | CACAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA18980.hp2 NA18992.hp1 NA18999.hp1 others(2): Show |
a0009a0017 | a0009c0009a0017c0042 | a0009c0009t0001a0017c0042t0001 | a0009c0009t0001g0026a0009c0009t0001g0038a0009c0009t0001g0039others(2): Show | 5 | 380 | 0.0132 | -18 | c.100 others(35): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18621556 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(60): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0005others(32): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(50): Show | a0001c0002t0001g0052a0001c0002t0002g0064a0001c0002t0002g0066others(60): Show | 63 | 218 | 0.2890 | -18 | c.475 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02109.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0003a0001c0003t0003a0001c0003t0013others(7): Show | a0001c0002t0003g0156a0001c0003t0003g0164a0001c0003t0013g0212others(7): Show | 10 | 218 | 0.0459 | -18 | c.221 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18886164 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG01517.hp1 | a0006 | a0006c0073 | a0006c0073t0008 | a0006c0073t0008g0071 | 1 | 218 | 0.0046 | -18 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18886195 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0005 | a0005c0060 | a0005c0060t0001 | a0005c0060t0001g0048 | 1 | 218 | 0.0046 | -18 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133533163 | CTGTGTGT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0109 | 1 | 152 | 0.0066 | -18 | c.-19 others(29): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 1540 | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133563826 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0090 | 1 | 152 | 0.0066 | -18 | c.174 others(37): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133563904 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0054 | 1 | 152 | 0.0066 | -18 | c.174 others(37): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133563920 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 152 | 0.0066 | -18 | c.174 others(37): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133564541 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0151a0002c0002t0003g0152 | 2 | 152 | 0.0132 | -18 | c.174 others(37): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801678 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(38): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(12): Show | a0001c0001t0001a0001c0015t0001a0002c0002t0001others(12): Show | a0001c0001t0001g0264a0001c0015t0001g0077a0002c0002t0001g0255others(38): Show | 41 | 274 | 0.1496 | -18 | c.318 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83823879 | CCTTCTTC others(11): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG03130.hp2 HG03492.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0092a0002c0002t0001g0111a0002c0002t0001g0255others(1): Show | 4 | 274 | 0.0146 | -18 | c.600 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83823893 | CTCTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01258.hp2 others(3): Show |
a0001a0007a0008others(2): Show | a0001c0001a0007c0007a0008c0011others(2): Show | a0001c0001t0001a0007c0007t0001a0008c0011t0001others(2): Show | a0001c0001t0001g0213a0007c0007t0001g0001a0008c0011t0001g0005others(3): Show | 6 | 274 | 0.0219 | -18 | c.600 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83823957 | TCTTCTTC others(11): Show |
T | intron_variant | MODIFIER | HG00735.hp1 NA19057.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0268a0004c0004t0001g0269 | 2 | 274 | 0.0073 | -18 | c.600 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83906622 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01433.hp2 HG02056.hp1 others(16): Show |
a0003a0009 | a0003c0003a0009c0009 | a0003c0003t0001a0009c0009t0009 | a0003c0003t0001g0025a0003c0003t0001g0083a0003c0003t0001g0098others(16): Show | 19 | 274 | 0.0693 | -18 | c.170 others(37): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL5_chr19_1500022_1518019 | 1508151 | GGGGCAGG others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01884.hp2 others(10): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0124a0001c0001t0002g0076a0001c0001t0005g0026others(8): Show | 13 | 352 | 0.0369 | -18 | c.490 others(31): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 6/11 | chr19 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1508159 | ACCTGGGG others(11): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02486.hp1 others(15): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0160a0001c0001t0001g0162a0001c0001t0002g0074others(15): Show | 18 | 352 | 0.0511 | -18 | c.490 others(31): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 6/11 | chr19 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 942368 | GGAGGAGG others(11): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG02280.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(2): Show | 5 | 14 | 0.3571 | -18 | c.83- others(33): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar |