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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM29_chr4_174913358_174983180 | 174959477 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp1 HG02886.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0005a0005c0007 | a0001c0001t0002a0005c0005t0002a0005c0007t0002 | a0001c0001t0002g0221 a0005c0005t0002g0024 a0005c0005t0002g0223 others(3): Show |
7 | 328 | 0.0213 | -8 | c.-18 others(29): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174965484 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG02559.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0257 a0001c0001t0003g0047 a0001c0001t0006g0077 others(1): Show |
4 | 159 | 0.0252 | -8 | c.-18 others(27): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174968771 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02451.hp2 others(7): Show |
a0001a0009 | a0001c0001a0001c0006a0001c0008others(2): Show | a0001c0001t0002a0001c0006t0002a0001c0008t0002others(2): Show | a0001c0001t0002g0003 a0001c0006t0002g0033 a0001c0006t0002g0035 others(4): Show |
10 | 116 | 0.0862 | -8 | c.-18 others(27): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174979268 | CAGAGAGA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp2 NA18944.hp1 NA19065.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002 | a0001c0001t0001g0114 a0001c0001t0001g0165 a0001c0001t0001g0171 others(1): Show |
4 | 202 | 0.0198 | -8 | c.*12 others(19): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 1089 | chr4 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39765026 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(146): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0007a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(135): Show |
149 | 185 | 0.8054 | -8 | c.150 others(27): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 14/20 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39160539 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(10): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0002t0001g0186 others(10): Show |
13 | 15 | 0.8667 | -8 | c.526 others(23): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3664473 | AAAACAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(116): Show |
a0001a0002a0006others(10): Show | a0001c0001a0001c0012a0001c0027others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0272 a0001c0001t0002g0004 a0001c0001t0002g0056 others(102): Show |
119 | 201 | 0.5920 | -8 | c.*44 others(19): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 3501 | chr20 | TogoVar | |||||||
ADAM33_chr20_3662975_3687010 | 3668985 | ATCTGGAC others(1): Show |
A | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(43): Show |
a0003a0005a0015others(3): Show | a0003c0003a0003c0039a0003c0042others(9): Show | a0003c0003t0007a0003c0003t0008a0003c0003t0032others(14): Show | a0003c0003t0007g0058 a0003c0003t0007g0095 a0003c0003t0007g0096 others(36): Show |
46 | 460 | 0.1000 | -8 | c.241 others(17): Show |
p.Gln others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 22/22 | 2425/3436 | 2412/2442 | 804/813 | chr20 | TogoVar | |||
ADAM7_chr8_24436026_24514565 | 24438273 | TTATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG02486.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0003c0004t0005 | a0001c0001t0001g0003 a0001c0001t0001g0298 a0001c0001t0004g0020 others(4): Show |
7 | 277 | 0.0253 | -8 | c.-28 others(19): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2752 | chr8 | TogoVar | |||||||
ADAM7_chr8_24436026_24514565 | 24438298 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0202 a0001c0001t0004g0020 others(2): Show |
5 | 322 | 0.0155 | -8 | c.-28 others(19): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2727 | chr8 | TogoVar | |||||||
ADAM7_chr8_24436026_24514565 | 24447937 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02129.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0086 a0001c0001t0001g0182 a0001c0001t0001g0185 others(6): Show |
10 | 72 | 0.1389 | -8 | c.233 others(23): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24481063 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01261.hp1 NA18522.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 others(2): Show |
5 | 235 | 0.0213 | -8 | c.706 others(25): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24499797 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(88): Show |
a0002a0003a0004others(3): Show | a0002c0002a0002c0007a0002c0014others(6): Show | a0002c0002t0001a0002c0002t0015a0002c0007t0001others(7): Show | a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0014 others(77): Show |
91 | 225 | 0.4044 | -8 | c.192 others(25): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133266977 | GGGAAGCG others(1): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp2 others(55): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0001t0001g0088 a0001c0002t0002g0118 a0001c0002t0002g0120 others(36): Show |
58 | 384 | 0.1510 | -8 | c.231 others(25): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAM9_chr8_38991973_39110261 | 39045343 | CATGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(12): Show |
15 | 317 | 0.0473 | -8 | c.130 others(27): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33521396 | AATATATA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01975.hp2 HG01978.hp1 others(1): Show |
a0002a0005 | a0002c0002a0005c0006a0005c0013 | a0002c0002t0002a0005c0006t0001a0005c0013t0011 | a0002c0002t0002g0061 a0002c0002t0002g0183 a0005c0006t0001g0146 others(1): Show |
4 | 28 | 0.1429 | -8 | c.*57 others(19): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2138 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33585038 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0011a0001c0025others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0128 a0001c0001t0001g0180 a0001c0001t0001g0197 others(16): Show |
19 | 165 | 0.1152 | -8 | c.286 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 18/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33592251 | CAAAAAAC others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02630.hp1 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0018a0001c0027others(10): Show | a0001c0001t0003a0001c0001t0009a0001c0018t0008others(11): Show | a0001c0001t0003g0108 a0001c0001t0009g0161 a0001c0018t0008g0207 others(11): Show |
14 | 222 | 0.0631 | -8 | c.265 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33733998 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00621.hp2 others(65): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 others(65): Show |
68 | 86 | 0.7907 | -8 | c.634 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33760879 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01081.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0187 a0001c0001t0003g0108 a0001c0001t0008g0102 others(16): Show |
19 | 47 | 0.4043 | -8 | c.490 others(25): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33790782 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG02896.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0024others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(3): Show | a0001c0001t0001g0177 a0001c0001t0009g0199 a0001c0001t0015g0045 others(4): Show |
7 | 95 | 0.0737 | -8 | c.490 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827710 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01081.hp1 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0028 others(43): Show |
46 | 92 | 0.5000 | -8 | c.489 others(27): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671086 | CCTCTCTC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01517.hp1 HG02280.hp1 others(2): Show |
a0001a0005a0006 | a0001c0002a0001c0018a0005c0009others(1): Show | a0001c0002t0018a0001c0018t0040a0005c0009t0009others(1): Show | a0001c0002t0018g0045 a0001c0018t0040g0044 a0005c0009t0009g0022 others(2): Show |
5 | 312 | 0.0160 | -8 | c.-17 others(19): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1419 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671102 | TCTCTCTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp2 NA18966.hp2 NA18998.hp2 others(5): Show |
a0001a0008 | a0001c0026a0001c0039a0008c0011 | a0001c0026t0007a0001c0039t0027a0008c0011t0005 | a0001c0026t0007g0076 a0001c0039t0027g0093 a0008c0011t0005g0081 others(5): Show |
8 | 314 | 0.0255 | -8 | c.-17 others(19): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1403 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671108 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01070.hp1 others(35): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0007others(15): Show | a0001c0002t0002a0001c0004t0003a0001c0007t0002others(17): Show | a0001c0002t0002g0118 a0001c0002t0002g0282 a0001c0004t0003g0102 others(33): Show |
38 | 129 | 0.2946 | -8 | c.-16 others(19): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1397 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70688846 | AGGGGGAG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(66): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0001c0005others(23): Show | a0001c0002t0002a0001c0004t0003a0001c0005t0006others(27): Show | a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0147 others(65): Show |
69 | 288 | 0.2396 | -8 | c.523 others(27): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70719367 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG02004.hp2 HG02257.hp2 others(6): Show |
a0001a0004a0007others(3): Show | a0001c0002a0001c0005a0001c0039others(5): Show | a0001c0002t0007a0001c0005t0055a0001c0039t0027others(5): Show | a0001c0002t0007g0054 a0001c0005t0055g0244 a0001c0039t0027g0093 others(6): Show |
9 | 59 | 0.1525 | -8 | c.871 others(25): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5151215 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00621.hp2 others(21): Show |
a0003a0011a0012 | a0003c0006a0003c0007a0003c0016others(2): Show | a0003c0006t0001a0003c0006t0002a0003c0006t0003others(17): Show | a0003c0006t0001g0177 a0003c0006t0002g0168 a0003c0006t0002g0176 others(21): Show |
24 | 120 | 0.2000 | -8 | c.501 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5151678 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01168.hp1 HG01358.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0010a0001c0022a0002c0005others(7): Show | a0001c0010t0002a0001c0022t0001a0002c0005t0001others(9): Show | a0001c0010t0002g0325 a0001c0022t0001g0015 a0002c0005t0001g0198 others(10): Show |
13 | 16 | 0.8125 | -8 | c.501 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5227505 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(90): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0001c0036others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(60): Show | a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0048 others(90): Show |
93 | 103 | 0.9029 | -8 | c.170 others(27): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5235470 | GATCCTGC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0010a0001c0023others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(144): Show | a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0029 others(233): Show |
237 | 330 | 0.7182 | -8 | c.202 others(25): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5265985 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(23): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0010a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(22): Show | a0001c0001t0001g0049 a0001c0001t0001g0316 a0001c0001t0006g0077 others(23): Show |
26 | 52 | 0.5000 | -8 | 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 | 5274674 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp1 HG03831.hp1 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0007a0002c0002t0002others(5): Show | a0001c0001t0001g0050 a0001c0010t0007g0075 a0002c0002t0002g0312 others(7): Show |
10 | 328 | 0.0305 | -8 | c.278 others(29): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5279926 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp1 HG03831.hp1 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0007a0002c0002t0002others(5): Show | a0001c0001t0001g0050 a0001c0010t0007g0075 a0002c0002t0002g0312 others(7): Show |
10 | 330 | 0.0303 | -8 | c.278 others(29): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977349 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02027.hp1 HG02293.hp1 others(2): Show |
a0003a0004 | a0003c0006a0003c0009a0003c0013others(1): Show | a0003c0006t0003a0003c0009t0003a0003c0013t0001others(2): Show | a0003c0006t0003g0036 a0003c0009t0003g0043 a0003c0013t0001g0225 others(2): Show |
5 | 196 | 0.0255 | -8 | c.295 others(27): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100195520 | TCATTTTC others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG03139.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0010a0001c0033a0002c0050others(2): Show | a0001c0010t0020a0001c0033t0015a0002c0050t0015others(2): Show | a0001c0010t0020g0018 a0001c0033t0015g0178 a0002c0050t0015g0090 others(2): Show |
5 | 226 | 0.0221 | -8 | c.118 others(27): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100211099 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02717.hp2 HG03139.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0001a0002c0004others(6): Show | a0001c0005t0009a0002c0001t0013a0002c0004t0006others(6): Show | a0001c0005t0009g0015 a0002c0001t0013g0019 a0002c0004t0006g0203 others(6): Show |
9 | 109 | 0.0826 | -8 | c.107 others(29): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100223679 | ACATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03209.hp2 |
a0001a0002 | a0001c0007a0002c0001 | a0001c0007t0006a0002c0001t0004 | a0001c0007t0006g0202 a0002c0001t0004g0191 |
2 | 226 | 0.0088 | -8 | c.107 others(29): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100246867 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02080.hp2 HG02109.hp1 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0005a0001c0007a0001c0018others(14): Show | a0001c0005t0002a0001c0007t0023a0001c0018t0010others(16): Show | a0001c0005t0002g0139 a0001c0007t0023g0215 a0001c0018t0010g0006 others(17): Show |
20 | 61 | 0.3279 | -8 | c.107 others(27): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100276375 | GGTGGGAG others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp2 HG02055.hp1 others(8): Show |
a0001a0003a0005 | a0001c0005a0001c0007a0001c0021others(5): Show | a0001c0005t0004a0001c0007t0006a0001c0021t0006others(8): Show | a0001c0005t0004g0193 a0001c0007t0006g0202 a0001c0021t0006g0171 others(8): Show |
11 | 226 | 0.0487 | -8 | c.789 others(25): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77357108 | CATATATT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(129): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0016a0001c0023others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0119 a0001c0001t0002g0001 a0001c0001t0002g0025 others(128): Show |
132 | 324 | 0.4074 | -8 | c.132 others(27): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 8/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77375890 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01256.hp1 HG01258.hp2 others(13): Show |
a0004a0005a0007others(6): Show | a0004c0003a0004c0033a0005c0004others(7): Show | a0004c0003t0005a0004c0003t0011a0004c0033t0005others(8): Show | a0004c0003t0005g0092 a0004c0003t0011g0042 a0004c0003t0011g0057 others(13): Show |
16 | 44 | 0.3636 | -8 | c.496 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77404030 | GTCCTCCC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00597.hp1 others(39): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0024a0002c0006others(14): Show | a0001c0001t0002a0001c0001t0049a0001c0024t0021others(19): Show | a0001c0001t0002g0037 a0001c0001t0002g0116 a0001c0001t0002g0194 others(39): Show |
42 | 324 | 0.1296 | -8 | c.495 others(27): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129471450 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01081.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0004a0002c0010others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0010others(8): Show | a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 others(27): Show |
30 | 123 | 0.2439 | -8 | c.747 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129474679 | AAAGGCTC others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01167.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0001a0001c0001t0002a0006c0014t0002 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 others(9): Show |
12 | 224 | 0.0536 | -8 | c.747 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129504872 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 NA18522.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0002g0015 a0001c0001t0002g0016 |
3 | 18 | 0.1667 | -8 | c.748 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129549906 | CCGTATAT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG02723.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0021 a0001c0001t0002g0016 a0001c0001t0002g0175 others(7): Show |
10 | 224 | 0.0446 | -8 | c.132 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | chr5 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129549952 | ATATGTAT others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG02723.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0021 a0001c0001t0002g0016 a0001c0001t0002g0175 others(10): Show |
13 | 199 | 0.0653 | -8 | c.132 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129550054 | ATATGTAT others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG02145.hp1 HG03942.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0021 | a0001c0001t0003a0008c0021t0003 | a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0182 others(1): Show |
4 | 223 | 0.0179 | -8 | c.132 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129550092 | ATATGTAT others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG02145.hp1 HG03942.hp2 |
a0001a0008 | a0001c0001a0008c0021 | a0001c0001t0003a0008c0021t0003 | a0001c0001t0003g0174 a0001c0001t0003g0182 a0008c0021t0003g0155 |
3 | 223 | 0.0135 | -8 | c.132 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |