view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM5_chr16_20404534_20446336 | 20409863 | A | AGGAGAGG others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02559.hp2 others(7): Show |
a0001a0017 | a0001c0001a0017c0017 | a0001c0001t0001a0017c0017t0010 | a0001c0001t0001g0021 a0001c0001t0001g0051 a0001c0001t0001g0052 others(6): Show |
10 | 312 | 0.0321 | 32 | c.-16 others(47): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25037001 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02300.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0003a0001c0010t0003 | a0001c0003t0003g0013 a0001c0003t0003g0106 a0001c0010t0003g0063 others(1): Show |
5 | 200 | 0.0250 | 32 | c.432 others(49): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCCTTC others(25): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 157 | 0.0064 | 32 | c.375 others(51): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0103 a0001c0001t0001g0127 others(1): Show |
4 | 63 | 0.0635 | 32 | c.135 others(51): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTBL2_chr5_57475018_57487811 | 57487385 | T | TCATGTAG others(25): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | 32 | c.-46 others(43): Show |
ACTBL2 | ENSG00000169067.4 | transcript | ENST00000423391.3 | protein_coding | 4575 | chr5 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0181 a0001c0009t0001g0180 |
2 | 173 | 0.0116 | 32 | c.106 others(51): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 172 | 0.0058 | 32 | c.106 others(51): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236721015 | G | GGTTTTTT others(25): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0293 | 1 | 132 | 0.0076 | 32 | c.448 others(47): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(2): Show | a0001c0001t0001g0311 a0001c0001t0004g0293 a0001c0003t0002g0053 others(3): Show |
6 | 200 | 0.0300 | 32 | c.876 others(45): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673443 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018 | a0001c0001t0017g0282 a0001c0001t0018g0196 |
2 | 310 | 0.0065 | 32 | c.162 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38728449 | C | CCTCCTCC others(25): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 312 | 0.0032 | 32 | c.241 others(49): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150259291 | A | AAGAAAGA others(25): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 1 | 274 | 0.0036 | 32 | c.565 others(51): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3024722 | T | TTCGCTGG others(25): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0000 | 1 | 364 | 0.0027 | 32 | c.*19 others(43): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1820 | chr1 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554201 | G | GAGAAAGA others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01192.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0203 others(17): Show |
20 | 67 | 0.2985 | 32 | c.544 others(49): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554268 | A | AAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0023 | 1 | 176 | 0.0057 | 32 | c.544 others(49): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554268 | A | AAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 176 | 0.0057 | 32 | c.544 others(49): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554268 | A | AAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0033 | 1 | 176 | 0.0057 | 32 | c.544 others(49): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17184983 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG02486.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0002t0003a0001c0004t0002others(5): Show | a0001c0001t0003g0045 a0001c0001t0003g0187 a0001c0002t0003g0068 others(9): Show |
12 | 212 | 0.0566 | 32 | c.108 others(51): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0284 | 1 | 299 | 0.0033 | 32 | c.973 others(47): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02486.hp1 NA20300.hp1 |
a0001a0003 | a0001c0004a0003c0011 | a0001c0004t0002a0003c0011t0045 | a0001c0004t0002g0309 a0003c0011t0045g0337 |
2 | 300 | 0.0067 | 32 | c.973 others(47): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | |||||||
ADAL_chr15_43325672_43359569 | 43334633 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01358.hp2 HG03654.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0030 a0001c0002t0001g0060 a0001c0002t0001g0201 others(1): Show |
4 | 18 | 0.2222 | 32 | c.-16 others(49): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58647248 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0325 | 1 | 8 | 0.1250 | 32 | c.586 others(49): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58688786 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18992.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0184 a0001c0005t0004g0252 |
2 | 125 | 0.0160 | 32 | c.207 others(49): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126051532 | G | GCCAGCCA others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0098 | 1 | 214 | 0.0047 | 32 | c.161 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126051631 | G | GTCCATCC others(25): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 NA19240.hp1 |
a0001a0012 | a0001c0020a0012c0056 | a0001c0020t0017a0001c0020t0043a0012c0056t0025 | a0001c0020t0017g0196 a0001c0020t0043g0208 a0012c0056t0025g0002 |
3 | 250 | 0.0120 | 32 | c.161 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0070 | 1 | 65 | 0.0154 | 32 | c.114 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 65 | 0.0154 | 32 | c.114 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18952.hp1 |
a0001a0002 | a0001c0002a0002c0017 | a0001c0002t0009a0002c0017t0002 | a0001c0002t0009g0149 a0002c0017t0002g0071 |
2 | 66 | 0.0303 | 32 | c.114 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0201 | 1 | 65 | 0.0154 | 32 | c.114 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126120949 | A | AATATAAT others(25): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03471.hp2 |
a0009a0015 | a0009c0039a0015c0051 | a0009c0039t0006a0015c0051t0004 | a0009c0039t0006g0210 a0015c0051t0004g0034 |
2 | 250 | 0.0080 | 32 | c.417 others(49): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126295530 | A | AATACACA others(25): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0009a0001c0010t0001 | a0001c0002t0009g0135 a0001c0002t0009g0140 a0001c0010t0001g0145 |
3 | 165 | 0.0182 | 32 | c.187 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9520964 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 94 | 0.0106 | 32 | c.957 others(47): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9521840 | T | TCTGCCTG others(25): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 | 1 | 128 | 0.0078 | 32 | c.844 others(47): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 7/18 | chr2 | TogoVar | |||||||
ADAM9_chr8_38991973_39110261 | 39045006 | C | CTATGTAT others(25): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 328 | 0.0030 | 32 | c.130 others(51): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849689 | G | GGTATCTA others(25): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0011 | a0011c0021 | a0011c0021t0012 | a0011c0021t0012g0213 | 1 | 146 | 0.0068 | 32 | c.489 others(51): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133460471 | C | CGGCGGGG others(25): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01167.hp1 others(4): Show |
a0008a0016 | a0008c0013a0016c0022 | a0008c0013t0001a0016c0022t0001 | a0008c0013t0001g0012 a0008c0013t0001g0072 a0008c0013t0001g0074 others(3): Show |
7 | 167 | 0.0419 | 32 | c.*12 others(43): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1086 | chr9 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70759132 | T | TTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp2 others(13): Show |
a0001a0010a0014others(1): Show | a0001c0002a0001c0007a0001c0058others(3): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0024others(6): Show | a0001c0002t0002g0111 a0001c0002t0002g0115 a0001c0002t0002g0134 others(13): Show |
16 | 179 | 0.0894 | 32 | c.317 others(49): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS15_chr11_130443645_130481645 | 130470133 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 333 | 0.0030 | 32 | c.172 others(49): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5225857 | A | ACAATTAA others(25): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0065 | 1 | 330 | 0.0030 | 32 | c.170 others(51): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 11/22 | chr5 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5225859 | A | AATTAATT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(91): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0001c0023others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(61): Show | a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0048 others(91): Show |
94 | 329 | 0.2857 | 32 | c.170 others(51): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5225893 | T | TTAATTCA others(25): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0007 | a0007c0027 | a0007c0027t0001 | a0007c0027t0001g0250 | 1 | 330 | 0.0030 | 32 | c.170 others(51): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100119043 | T | TACACACA others(25): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03834.hp1 NA18955.hp2 others(1): Show |
a0001a0002a0003 | a0001c0071a0002c0056a0003c0012others(1): Show | a0001c0071t0004a0002c0056t0022a0003c0012t0001others(1): Show | a0001c0071t0004g0182 a0002c0056t0022g0073 a0003c0012t0001g0189 others(1): Show |
4 | 151 | 0.0265 | 32 | c.172 others(51): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 12/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100255617 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02559.hp2 HG02647.hp2 others(1): Show |
a0002a0003a0007 | a0002c0001a0003c0009a0007c0023 | a0002c0001t0004a0003c0009t0003a0007c0023t0001others(1): Show | a0002c0001t0004g0191 a0003c0009t0003g0043 a0007c0023t0001g0206 others(1): Show |
4 | 42 | 0.0952 | 32 | c.103 others(51): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01074.hp1 others(16): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0016a0003c0002others(4): Show | a0001c0001t0002a0001c0001t0040a0001c0001t0043others(8): Show | a0001c0001t0002g0067 a0001c0001t0002g0134 a0001c0001t0002g0181 others(16): Show |
19 | 74 | 0.2568 | 32 | c.253 others(51): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CTTATATA others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01934.hp1 HG03209.hp2 others(2): Show |
a0004a0005a0011 | a0004c0003a0005c0004a0011c0011 | a0004c0003t0012a0005c0004t0001a0011c0011t0005 | a0004c0003t0012g0136 a0005c0004t0001g0243 a0005c0004t0001g0246 others(2): Show |
5 | 60 | 0.0833 | 32 | c.253 others(51): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77400313 | G | GTCTACTC others(25): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0298 | 1 | 324 | 0.0031 | 32 | c.495 others(51): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0152 | 1 | 44 | 0.0227 | 32 | c.161 others(51): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0061 |
2 | 45 | 0.0444 | 32 | c.161 others(51): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 a0001c0001t0001g0242 |
2 | 45 | 0.0444 | 32 | c.161 others(51): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01070.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0159 |
2 | 45 | 0.0444 | 32 | c.161 others(51): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar |