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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM9_chr8_38991973_39110261 | 39045256 | GTATATA | G | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0044a0001c0001t0001g0046a0001c0001t0001g0047others(18): Show | 21 | 332 | 0.0633 | -6 | c.130 others(25): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMDEC1_chr8_24379285_24411013 | 24392885 | GGTTTTT | G | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG02976.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0016 | 5 | 404 | 0.0124 | -6 | c.208 others(21): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 2/13 | chr8 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | CTTTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG02897.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0319a0001c0001t0002g0355others(3): Show | 7 | 384 | 0.0182 | -6 | c.320 others(23): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8600500 | CTTTTTT | C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02572.hp2 others(11): Show |
a0001a0004a0008 | a0001c0001a0001c0010a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0158a0001c0001t0001g0318a0001c0001t0001g0319others(11): Show | 14 | 384 | 0.0365 | -6 | c.810 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 6/25 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33521396 | AATATAT | A | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01993.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0038a0001c0001t0001g0060 | 3 | 224 | 0.0134 | -6 | c.*57 others(17): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2138 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33601106 | AGTGTGT | A | intron_variant | MODIFIER | HG02257.hp2 NA19030.hp2 |
a0001a0004 | a0001c0001a0004c0034 | a0001c0001t0001a0004c0034t0025 | a0001c0001t0001g0128a0004c0034t0025g0194 | 2 | 224 | 0.0089 | -6 | c.252 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 16/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33640873 | ATATACT | A | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02572.hp2 others(14): Show |
a0001a0002a0003others(9): Show | a0001c0011a0002c0009a0003c0043others(9): Show | a0001c0011t0001a0001c0011t0003a0002c0009t0001others(11): Show | a0001c0011t0001g0163a0001c0011t0001g0164a0001c0011t0003g0107others(14): Show | 17 | 224 | 0.0759 | -6 | c.171 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 11/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33645144 | TTTATTA | T | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02257.hp2 others(5): Show |
a0001a0004a0012others(1): Show | a0001c0001a0001c0003a0004c0017others(4): Show | a0001c0001t0001a0001c0003t0001a0004c0017t0013others(4): Show | a0001c0001t0001g0128a0001c0001t0001g0177a0001c0003t0001g0143others(5): Show | 8 | 224 | 0.0357 | -6 | c.148 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 9/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33647738 | CAAACAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(108): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0008others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0024others(108): Show | 111 | 224 | 0.4955 | -6 | c.147 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 9/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33654874 | TTGTGTG | T | intron_variant | MODIFIER | HG01261.hp1 HG03098.hp2 HG03471.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0008a0001c0001t0009a0002c0002t0002others(2): Show | a0001c0001t0008g0102a0001c0001t0009g0161a0002c0002t0002g0116others(2): Show | 5 | 224 | 0.0223 | -6 | c.119 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33705266 | GGTGTGT | G | intron_variant | MODIFIER | HG01243.hp2 HG03225.hp1 NA18906.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0009a0004c0007t0007 | a0001c0001t0009g0199a0004c0007t0007g0052a0004c0007t0007g0132 | 3 | 224 | 0.0134 | -6 | c.635 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33733998 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(50): Show |
a0001a0002a0007others(11): Show | a0001c0001a0001c0003a0001c0050others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0007a0001c0001t0001g0024a0001c0001t0001g0025others(50): Show | 53 | 224 | 0.2366 | -6 | c.634 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33739457 | CTATGTG | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(58): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0036others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0059others(58): Show | 61 | 224 | 0.2723 | -6 | c.634 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33760879 | CTGTGTG | C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02965.hp2 others(2): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0028a0002c0009others(2): Show | a0001c0001t0009a0001c0028t0001a0002c0009t0001others(2): Show | a0001c0001t0009g0161a0001c0028t0001g0189a0002c0009t0001g0211others(2): Show | 5 | 224 | 0.0223 | -6 | c.490 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33790782 | CATATAT | C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02572.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0016a0001c0018a0001c0025others(4): Show | a0001c0016t0001a0001c0018t0008a0001c0025t0012others(4): Show | a0001c0016t0001g0208a0001c0018t0008g0207a0001c0025t0012g0217others(4): Show | 7 | 224 | 0.0313 | -6 | c.490 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33809996 | AAAAAAC | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02145.hp2 others(14): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0128a0001c0001t0003g0108a0001c0001t0004g0080others(14): Show | 17 | 224 | 0.0759 | -6 | c.490 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33835951 | CTCTGTG | C | intron_variant | MODIFIER | HG00140.hp1 NA18980.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0002 | a0001c0001t0003g0047a0002c0004t0002g0151 | 2 | 224 | 0.0089 | -6 | c.489 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849442 | ATATATG | A | intron_variant | MODIFIER | HG01975.hp2 NA18964.hp2 NA19000.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0005a0002c0002t0002a0005c0006t0011 | a0001c0001t0005g0181a0002c0002t0002g0183a0005c0006t0011g0182 | 3 | 224 | 0.0134 | -6 | c.489 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70671086 | CCTCTCT | C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01255.hp1 others(14): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0004a0001c0007others(12): Show | a0001c0002t0018a0001c0004t0009a0001c0007t0021others(13): Show | a0001c0002t0018g0090a0001c0004t0009g0088a0001c0007t0021g0077others(14): Show | 17 | 354 | 0.0480 | -6 | c.-17 others(17): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1419 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70671106 | TCTCACA | T | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03130.hp1 NA20300.hp1 |
a0001a0002a0016 | a0001c0004a0002c0084a0016c0034 | a0001c0004t0003a0002c0084t0001a0016c0034t0054 | a0001c0004t0003g0333a0002c0084t0001g0334a0016c0034t0054g0332 | 3 | 354 | 0.0085 | -6 | c.-16 others(17): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1399 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70671108 | TCACACA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(85): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0005others(35): Show | a0001c0002t0002a0001c0002t0014a0001c0002t0024others(41): Show | a0001c0002t0002g0110a0001c0002t0002g0113a0001c0002t0002g0188others(85): Show | 88 | 354 | 0.2486 | -6 | c.-16 others(17): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1397 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70719367 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp2 others(37): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0004a0001c0005others(21): Show | a0001c0002t0007a0001c0004t0003a0001c0004t0008others(27): Show | a0001c0002t0007g0009a0001c0002t0007g0011a0001c0004t0003g0134others(37): Show | 40 | 354 | 0.1130 | -6 | c.871 others(23): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70749608 | AGTGTGT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(59): Show |
a0001a0002a0004others(7): Show | a0001c0005a0001c0019a0001c0025others(16): Show | a0001c0005t0011a0001c0019t0003a0001c0025t0028others(24): Show | a0001c0005t0011g0099a0001c0005t0011g0235a0001c0005t0011g0304others(58): Show | 62 | 354 | 0.1751 | -6 | c.226 others(23): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS15_chr11_130443645_130481645 | 130447484 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0176a0001c0001t0003g0346a0001c0001t0006g0313others(6): Show | 9 | 398 | 0.0226 | -6 | c.-14 others(17): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 1160 | chr11 | TogoVar | ||||||
ADAMTS15_chr11_130443645_130481645 | 130470154 | GTATATA | G | intron_variant | MODIFIER | NA18974.hp2 NA18998.hp2 NA19012.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0004 | a0001c0001t0002g0054a0002c0003t0004g0077a0002c0003t0004g0191 | 3 | 398 | 0.0075 | -6 | c.172 others(23): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5138659 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01952.hp1 HG02630.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0023a0002c0002a0002c0005others(4): Show | a0001c0023t0015a0002c0002t0001a0002c0002t0005others(6): Show | a0001c0023t0015g0223a0002c0002t0001g0216a0002c0002t0005g0313others(6): Show | 9 | 332 | 0.0271 | -6 | c.-18 others(17): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 1670 | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5151596 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(62): Show |
a0001a0004a0005others(9): Show | a0001c0001a0001c0010a0001c0022others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(43): Show | a0001c0001t0001g0315a0001c0001t0001g0320a0001c0001t0003g0329others(62): Show | 65 | 332 | 0.1958 | -6 | c.501 others(23): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5151678 | TTGTGTG | T | intron_variant | MODIFIER | HG00323.hp1 HG01978.hp1 HG02886.hp2 |
a0001a0003a0026 | a0001c0022a0003c0007a0026c0073 | a0001c0022t0002a0003c0007t0004a0026c0073t0024 | a0001c0022t0002g0316a0003c0007t0004g0189a0026c0073t0024g0229 | 3 | 332 | 0.0090 | -6 | c.501 others(23): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5168352 | CATTATT | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01074.hp2 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0010a0001c0030a0002c0002others(10): Show | a0001c0010t0002a0001c0030t0013a0002c0002t0001others(21): Show | a0001c0010t0002g0325a0001c0030t0013g0317a0002c0002t0001g0215others(23): Show | 26 | 332 | 0.0783 | -6 | c.502 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5200107 | ATCTCTC | A | splice_region_variant others(1): Show |
LOW | HG03669.hp2 NA18983.hp2 NA18997.hp2 others(2): Show |
a0006a0007a0015others(1): Show | a0006c0029a0007c0027a0015c0035others(1): Show | a0006c0029t0001a0007c0027t0001a0015c0035t0001others(1): Show | a0006c0029t0001g0023a0007c0027t0001g0251a0007c0027t0001g0255others(2): Show | 5 | 332 | 0.0151 | -6 | c.131 others(20): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5215870 | GTATATA | G | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00735.hp1 others(34): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0001c0031others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(25): Show | a0001c0001t0001g0022a0001c0001t0001g0071a0001c0001t0003g0093others(34): Show | 37 | 332 | 0.1115 | -6 | c.160 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5227505 | CTGTGTG | C | intron_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01243.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0023a0002c0077others(1): Show | a0001c0001t0004a0001c0023t0006a0002c0077t0001others(1): Show | a0001c0001t0004g0092a0001c0023t0006g0226a0002c0077t0001g0199others(1): Show | 4 | 332 | 0.0121 | -6 | c.170 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5250707 | CTCTGTG | C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01243.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0010a0001c0023others(4): Show | a0001c0001t0006a0001c0001t0008a0001c0010t0001others(7): Show | a0001c0001t0006g0066a0001c0001t0008g0044a0001c0001t0008g0070others(8): Show | 11 | 332 | 0.0331 | -6 | c.266 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5265985 | AGTGTGT | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp2 others(45): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0010a0001c0023others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(42): Show | a0001c0001t0001g0042a0001c0001t0002g0045a0001c0001t0002g0058others(45): Show | 48 | 332 | 0.1446 | -6 | c.278 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5279916 | TTATTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(184): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0010a0001c0022others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(109): Show | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0025others(183): Show | 187 | 332 | 0.5633 | -6 | c.278 others(27): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5292498 | AAATAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(238): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0010a0001c0022others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(167): Show | a0001c0001t0001g0022a0001c0001t0001g0049a0001c0001t0001g0050others(238): Show | 241 | 332 | 0.7259 | -6 | c.279 others(27): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 99973382 | CTGGGCT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0001a0002a0005others(3): Show | a0001c0002a0001c0005a0001c0007others(42): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(103): Show | a0001c0002t0002g0063a0001c0002t0002g0169a0001c0002t0004g0081others(125): Show | 128 | 228 | 0.5614 | -6 | c.*10 others(17): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 22/22 | 1014 | chr15 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 99977349 | CATATAT | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00609.hp2 others(2): Show |
a0003a0004 | a0003c0012a0003c0019a0004c0031others(1): Show | a0003c0012t0043a0003c0012t0049a0003c0019t0001others(2): Show | a0003c0012t0043g0118a0003c0012t0049g0143a0003c0019t0001g0152others(2): Show | 5 | 228 | 0.0219 | -6 | c.295 others(25): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100005949 | TCCAGCC | T | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001a0004 | a0001c0018a0001c0043a0004c0003 | a0001c0018t0010a0001c0043t0052a0004c0003t0003 | a0001c0018t0010g0006a0001c0018t0010g0007a0001c0043t0052g0124others(1): Show | 4 | 228 | 0.0175 | -6 | c.259 others(25): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100104353 | GTTAAGT | G | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG03041.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0014a0002c0011a0005c0035others(2): Show | a0001c0014t0030a0002c0011t0023a0005c0035t0010others(2): Show | a0001c0014t0030g0001a0002c0011t0023g0207a0005c0035t0010g0021others(2): Show | 5 | 228 | 0.0219 | -6 | c.201 others(25): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 14/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100208683 | CTATCTA | C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02622.hp2 others(1): Show |
a0001a0003a0005 | a0001c0021a0003c0009a0005c0020 | a0001c0021t0005a0003c0009t0001a0005c0020t0005 | a0001c0021t0005g0219a0003c0009t0001g0110a0005c0020t0005g0220others(1): Show | 4 | 228 | 0.0175 | -6 | c.107 others(25): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100233465 | ATACCAT | A | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02630.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0018a0001c0046others(6): Show | a0001c0005t0005a0001c0018t0010a0001c0018t0070others(7): Show | a0001c0005t0005g0193a0001c0018t0010g0006a0001c0018t0010g0007others(8): Show | 11 | 228 | 0.0483 | -6 | c.107 others(27): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100289548 | TCACACA | T | intron_variant | MODIFIER | HG01099.hp2 HG03540.hp2 |
a0001 | a0001c0010a0001c0025 | a0001c0010t0020a0001c0025t0008 | a0001c0010t0020g0004a0001c0025t0008g0077 | 2 | 228 | 0.0088 | -6 | c.617 others(23): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 3/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | CATATAT | C | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01943.hp2 others(6): Show |
a0001a0008a0028 | a0001c0001a0001c0025a0008c0008others(1): Show | a0001c0001t0002a0001c0025t0003a0008c0008t0003others(1): Show | a0001c0001t0002g0128a0001c0025t0003g0264a0001c0025t0003g0278others(6): Show | 9 | 326 | 0.0276 | -6 | c.253 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77356985 | ATTTTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01243.hp1 others(26): Show |
a0002a0004a0007others(6): Show | a0002c0007a0004c0003a0004c0033others(7): Show | a0002c0007t0005a0004c0003t0001a0004c0003t0005others(13): Show | a0002c0007t0005g0005a0002c0007t0005g0023a0002c0007t0005g0177others(26): Show | 29 | 326 | 0.0890 | -6 | c.132 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 8/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77359510 | CAGTTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG02055.hp1 others(13): Show |
a0004a0012a0013others(3): Show | a0004c0003a0004c0033a0012c0012others(4): Show | a0004c0003t0001a0004c0003t0005a0004c0003t0009others(8): Show | a0004c0003t0001g0229a0004c0003t0005g0093a0004c0003t0009g0319others(13): Show | 16 | 326 | 0.0491 | -6 | c.121 others(21): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 7/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77371218 | TAAAAAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(61): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0024a0002c0007others(13): Show | a0001c0001t0002a0001c0024t0021a0002c0007t0004others(24): Show | a0001c0001t0002g0029a0001c0001t0002g0116a0001c0001t0002g0194others(61): Show | 64 | 326 | 0.1963 | -6 | c.496 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77375890 | CTTTTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02055.hp2 others(6): Show |
a0002a0006a0007others(3): Show | a0002c0007a0006c0005a0007c0010others(3): Show | a0002c0007t0004a0006c0005t0003a0007c0010t0002others(4): Show | a0002c0007t0004g0133a0006c0005t0003g0077a0006c0005t0003g0269others(6): Show | 9 | 326 | 0.0276 | -6 | c.496 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77400450 | GTGTGTC | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(30): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0006a0002c0007others(6): Show | a0001c0001t0002a0002c0006t0008a0002c0007t0004others(13): Show | a0001c0001t0002g0128a0002c0006t0008g0311a0002c0007t0004g0125others(30): Show | 33 | 326 | 0.1012 | -6 | c.495 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129459190 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0048a0001c0001t0002g0016a0001c0001t0002g0032others(2): Show | 5 | 226 | 0.0221 | -6 | c.-12 others(17): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 1107 | chr5 | TogoVar |