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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS14_chr10_70667506_70767441 | 70686274 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01109.hp1 others(26): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0004a0001c0007others(15): Show | a0001c0002t0018a0001c0002t0041a0001c0004t0009others(19): Show | a0001c0002t0018g0090a0001c0002t0018g0095a0001c0002t0041g0075others(26): Show | 29 | 354 | 0.0819 | 5 | c.522 others(24): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70709495 | G | GTTTTT | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02074.hp2 others(3): Show |
a0004a0005a0006others(3): Show | a0004c0010a0005c0009a0006c0073others(3): Show | a0004c0010t0002a0005c0009t0009a0006c0073t0017others(3): Show | a0004c0010t0002g0285a0005c0009t0009g0078a0006c0073t0017g0084others(3): Show | 6 | 354 | 0.0170 | 5 | c.870 others(20): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5158496 | A | ACTCCC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00735.hp1 others(37): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0010a0001c0022others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(29): Show | a0001c0001t0001g0315a0001c0001t0001g0320a0001c0001t0003g0329others(37): Show | 40 | 332 | 0.1205 | 5 | c.501 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5162759 | A | AGAGAG | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02886.hp2 others(3): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0023a0003c0007others(2): Show | a0001c0001t0008a0001c0023t0015a0003c0007t0010others(3): Show | a0001c0001t0008g0044a0001c0023t0015g0223a0003c0007t0010g0170others(3): Show | 6 | 332 | 0.0181 | 5 | c.501 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5234869 | C | CAGAAA | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG02109.hp1 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0050a0002c0005others(6): Show | a0001c0001t0001a0001c0050t0009a0002c0005t0001others(7): Show | a0001c0001t0001g0048a0001c0050t0009g0067a0002c0005t0001g0278others(7): Show | 10 | 332 | 0.0301 | 5 | c.185 others(22): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5236300 | C | CGCCTT | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02109.hp2 others(2): Show |
a0001a0004a0009others(2): Show | a0001c0001a0004c0024a0009c0039others(2): Show | a0001c0001t0001a0004c0024t0006a0009c0039t0015others(2): Show | a0001c0001t0001g0042a0004c0024t0006g0002a0009c0039t0015g0099others(2): Show | 5 | 332 | 0.0151 | 5 | c.202 others(22): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 13/22 | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5259878 | T | TCACCC | intron_variant | MODIFIER | HG01106.hp2 HG02886.hp2 HG03098.hp1 others(1): Show |
a0001a0004a0026 | a0001c0001a0004c0009a0004c0020others(1): Show | a0001c0001t0006a0004c0009t0001a0004c0020t0001others(1): Show | a0001c0001t0006g0066a0004c0009t0001g0139a0004c0020t0001g0102others(1): Show | 4 | 332 | 0.0121 | 5 | c.266 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5295407 | A | AAATTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0010a0001c0022others(79): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(203): Show | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0025others(327): Show | 331 | 332 | 0.9970 | 5 | c.279 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5305385 | A | ACACAC | intron_variant | MODIFIER | HG02129.hp2 HG02273.hp1 HG03453.hp2 others(1): Show |
a0002a0003a0008 | a0002c0002a0002c0013a0003c0017others(1): Show | a0002c0002t0001a0002c0013t0002a0003c0017t0001others(1): Show | a0002c0002t0001g0210a0002c0013t0002g0195a0003c0017t0001g0244others(1): Show | 4 | 332 | 0.0121 | 5 | c.318 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100088634 | A | AAACAG | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02486.hp1 |
a0001a0002 | a0001c0018a0002c0011 | a0001c0018t0016a0002c0011t0006a0002c0011t0039 | a0001c0018t0016g0223a0002c0011t0006g0054a0002c0011t0039g0013 | 3 | 228 | 0.0132 | 5 | c.213 others(24): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100101272 | T | TTTTCC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(97): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0005a0001c0007others(52): Show | a0001c0002t0066a0001c0005t0005a0001c0005t0009others(81): Show | a0001c0002t0066g0213a0001c0005t0005g0193a0001c0005t0009g0015others(97): Show | 100 | 228 | 0.4386 | 5 | c.201 others(24): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 14/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100209131 | A | AAAAGG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01255.hp1 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0002a0004c0003a0005c0026others(1): Show | a0001c0002t0002a0001c0002t0005a0004c0003t0027others(2): Show | a0001c0002t0002g0063a0001c0002t0005g0148a0004c0003t0027g0034others(2): Show | 5 | 228 | 0.0219 | 5 | c.107 others(24): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100236283 | T | TAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG02109.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0005a0001c0025a0002c0001others(5): Show | a0001c0005t0009a0001c0025t0008a0002c0001t0036others(6): Show | a0001c0005t0009g0015a0001c0025t0008g0077a0002c0001t0036g0003others(6): Show | 9 | 228 | 0.0395 | 5 | c.107 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100243839 | A | AAAATG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(181): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0005a0001c0007others(54): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(130): Show | a0001c0002t0002g0063a0001c0002t0002g0169a0001c0002t0004g0081others(181): Show | 184 | 228 | 0.8070 | 5 | c.107 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100246871 | A | ATTTAT | intron_variant | MODIFIER | NA18983.hp1 NA19065.hp1 NA19081.hp1 |
a0003 | a0003c0006a0003c0012 | a0003c0006t0001a0003c0006t0048a0003c0012t0049 | a0003c0006t0001g0170a0003c0006t0048g0134a0003c0012t0049g0143 | 3 | 228 | 0.0132 | 5 | c.107 others(24): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100259011 | T | TGAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(62): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0005a0001c0007others(27): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0011others(53): Show | a0001c0002t0004g0158a0001c0002t0005g0148a0001c0002t0011g0160others(62): Show | 65 | 228 | 0.2851 | 5 | c.103 others(24): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77333885 | G | GTATAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(126): Show |
a0002a0003a0004others(19): Show | a0002c0007a0002c0055a0002c0057others(27): Show | a0002c0007t0004a0002c0007t0005a0002c0007t0012others(50): Show | a0002c0007t0004g0070a0002c0007t0004g0165a0002c0007t0004g0218others(126): Show | 129 | 326 | 0.3957 | 5 | c.185 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77334696 | A | ATATAG | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG02083.hp1 others(12): Show |
a0003a0006a0007others(2): Show | a0003c0002a0006c0005a0007c0010others(2): Show | a0003c0002t0006a0006c0005t0003a0007c0010t0001others(3): Show | a0003c0002t0006g0013a0006c0005t0003g0157a0007c0010t0001g0127others(12): Show | 15 | 326 | 0.0460 | 5 | c.185 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77349524 | T | TAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01243.hp1 others(10): Show |
a0002a0004a0011others(4): Show | a0002c0007a0004c0003a0011c0011others(4): Show | a0002c0007t0038a0004c0003t0001a0004c0003t0005others(7): Show | a0002c0007t0038g0095a0004c0003t0001g0229a0004c0003t0005g0317others(10): Show | 13 | 326 | 0.0399 | 5 | c.161 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 10/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77411677 | A | ATTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG02165.hp2 others(11): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0024a0002c0007others(7): Show | a0001c0001t0002a0001c0024t0021a0002c0007t0005others(8): Show | a0001c0001t0002g0250a0001c0024t0021g0304a0002c0007t0005g0309others(11): Show | 14 | 326 | 0.0429 | 5 | c.495 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77412918 | A | AACTCC | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0007a0004c0003others(2): Show | a0001c0001t0016a0002c0007t0005a0004c0003t0005others(3): Show | a0001c0001t0016g0137a0002c0007t0005g0005a0004c0003t0005g0043others(3): Show | 6 | 326 | 0.0184 | 5 | c.495 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77415725 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01884.hp2 others(3): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0024a0004c0029others(2): Show | a0001c0001t0002a0001c0024t0021a0004c0029t0022others(2): Show | a0001c0001t0002g0181a0001c0024t0021g0304a0004c0029t0022g0305others(3): Show | 6 | 326 | 0.0184 | 5 | c.495 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77420002 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(39): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0024a0002c0006others(21): Show | a0001c0001t0002a0001c0024t0021a0001c0024t0022others(26): Show | a0001c0001t0002g0037a0001c0001t0002g0232a0001c0001t0002g0249others(39): Show | 42 | 326 | 0.1288 | 5 | c.495 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129684500 | C | CATTAT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp1 others(73): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(72): Show | 76 | 226 | 0.3363 | 5 | c.281 others(22): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129730928 | T | TTTTTG | intron_variant | MODIFIER | HG00621.hp1 HG01257.hp1 HG01346.hp1 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0055others(9): Show | 12 | 226 | 0.0531 | 5 | c.331 others(24): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCAAAA | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp2 HG02080.hp2 others(23): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0022others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0001g0077others(23): Show | 26 | 306 | 0.0850 | 5 | c.428 others(24): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG01891.hp2 HG02280.hp1 others(15): Show |
a0001a0002a0016 | a0001c0001a0002c0004a0002c0020others(3): Show | a0001c0001t0005a0002c0004t0001a0002c0020t0001others(3): Show | a0001c0001t0005g0050a0002c0004t0001g0015a0002c0004t0001g0254others(15): Show | 18 | 306 | 0.0588 | 5 | c.428 others(24): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43421280 | T | TAAAAA | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02809.hp2 others(5): Show |
a0001a0012 | a0001c0003a0012c0024 | a0001c0003t0001a0012c0024t0001 | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0180others(5): Show | 8 | 306 | 0.0261 | 5 | c.428 others(24): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01167.hp1 others(27): Show |
a0001a0004a0009others(1): Show | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0002t0001g0196a0001c0003t0001g0149a0001c0003t0001g0151others(27): Show | 30 | 306 | 0.0980 | 5 | c.428 others(24): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43421283 | A | ACACAC | intron_variant | MODIFIER | HG01081.hp1 HG02300.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0001g0067others(1): Show | 4 | 306 | 0.0131 | 5 | c.428 others(24): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43492396 | G | GAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(130): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0009a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(130): Show | 133 | 306 | 0.4346 | 5 | c.107 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 6/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501055 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00597.hp1 others(33): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0058a0001c0001t0001g0064others(33): Show | 36 | 306 | 0.1177 | 5 | c.867 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43506158 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(133): Show | 136 | 306 | 0.4444 | 5 | c.614 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0024others(16): Show | 19 | 306 | 0.0621 | 5 | c.613 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43538953 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01167.hp1 others(27): Show |
a0001a0004a0009others(2): Show | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0002t0001g0196a0001c0002t0001g0198a0001c0002t0001g0199others(27): Show | 30 | 306 | 0.0980 | 5 | c.454 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43549198 | C | CATTAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(275): Show | 278 | 306 | 0.9085 | 5 | c.453 others(22): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43553983 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(87): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(87): Show | 90 | 306 | 0.2941 | 5 | c.-20 others(16): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1781 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTT | intron_variant | MODIFIER | HG02683.hp2 HG02965.hp1 NA18957.hp1 others(4): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0004a0001c0035others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0006others(4): Show | a0001c0001t0001g0126a0001c0001t0004g0026a0001c0004t0006g0154others(4): Show | 7 | 276 | 0.0254 | 5 | c.163 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCTTTT | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02622.hp1 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0049a0002c0002a0002c0008others(5): Show | a0001c0049t0004a0002c0002t0001a0002c0008t0001others(5): Show | a0001c0049t0004g0149a0002c0002t0001g0008a0002c0008t0001g0150others(5): Show | 8 | 276 | 0.0290 | 5 | c.892 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179201631 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(24): Show |
a0001a0002a0003others(9): Show | a0001c0004a0001c0018a0001c0035others(23): Show | a0001c0004t0026a0001c0018t0002a0001c0035t0004others(24): Show | a0001c0004t0026g0172a0001c0018t0002g0178a0001c0035t0004g0022others(24): Show | 27 | 276 | 0.0978 | 5 | c.891 others(22): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179245787 | A | AAAAAC | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01261.hp2 others(3): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0013a0002c0002t0004others(3): Show | a0001c0001t0001g0067a0001c0001t0013g0021a0002c0002t0004g0006others(3): Show | 6 | 276 | 0.0217 | 5 | c.688 others(24): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179283549 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 HG02647.hp2 others(6): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0012others(6): Show | a0001c0001t0001a0001c0014t0013a0002c0012t0001others(6): Show | a0001c0001t0001g0066a0001c0014t0013g0112a0002c0012t0001g0060others(6): Show | 9 | 276 | 0.0326 | 5 | c.535 others(24): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72360535 | G | GTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0091a0001c0001t0002g0019a0001c0001t0002g0020others(4): Show | 7 | 182 | 0.0385 | 5 | c.662 others(24): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72450969 | A | AAGAAG | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01070.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0077a0001c0001t0001g0099a0001c0001t0001g0113others(27): Show | 30 | 182 | 0.1648 | 5 | c.505 others(24): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530136 | A | ATATAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(177): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0075others(177): Show | 180 | 182 | 0.9890 | 5 | c.504 others(24): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72549992 | G | GAAAGA | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0003c0008t0025 | a0001c0001t0002g0027a0003c0008t0025g0028 | 2 | 182 | 0.0110 | 5 | c.98- others(20): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26932706 | A | AAAAAC | intron_variant | MODIFIER | HG02027.hp1 HG02622.hp2 HG02896.hp2 others(7): Show |
a0001a0008a0019 | a0001c0001a0001c0014a0001c0020others(3): Show | a0001c0001t0063a0001c0014t0031a0001c0014t0144others(4): Show | a0001c0001t0063g0361a0001c0014t0031g0001a0001c0014t0144g0311others(4): Show | 10 | 398 | 0.0251 | 5 | c.187 others(22): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 5/7 | chr21 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65148386 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01081.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0081others(23): Show | 26 | 204 | 0.1275 | 5 | c.*34 others(16): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 351 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65196522 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0110a0001c0001t0001g0113a0001c0001t0001g0117others(6): Show | 9 | 204 | 0.0441 | 5 | c.270 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 21/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65256985 | C | CTCTCT | intron_variant | MODIFIER | HG00741.hp2 HG02486.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0002g0009a0001c0001t0002g0013a0001c0001t0005g0199others(3): Show | 6 | 204 | 0.0294 | 5 | c.183 others(24): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 14/24 | chr5 | TogoVar |