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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLK_chr8_11489387_11569599 | 11560337 | ACATGGAT others(5): Show |
A | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 306 | 0.0033 | -12 | c.103 others(29): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30291954 | TCGGCGGC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 181 | 0.0055 | -12 | c.-14 others(21): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 11 | chr17 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90734694 | CGCAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0014 | a0001c0014t0004 | a0001c0014t0004g0017 | 1 | 263 | 0.0038 | -12 | c.-4- others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | chr15 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90787036 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG04115.hp1 NA18940.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0029 a0004c0006t0002g0030 a0004c0006t0002g0031 others(3): Show |
6 | 85 | 0.0706 | -12 | c.282 others(31): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90789987 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02965.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0002a0004c0012t0002 | a0001c0001t0002g0004 a0001c0001t0002g0079 a0001c0001t0002g0247 others(1): Show |
4 | 51 | 0.0784 | -12 | c.282 others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90797414 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 a0001c0001t0002g0243 |
2 | 40 | 0.0500 | -12 | c.321 others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96212337 | GAATAATA others(5): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0021a0001c0003t0013others(2): Show | a0001c0001t0002g0281 a0001c0001t0021g0313 a0001c0003t0013g0039 others(3): Show |
6 | 320 | 0.0188 | -12 | c.677 others(29): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 8/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96227140 | GTTGTTTG others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0044a0001c0002t0015a0001c0002t0034 | a0001c0001t0044g0312 a0001c0002t0015g0304 a0001c0002t0034g0194 |
3 | 116 | 0.0259 | -12 | c.361 others(27): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 5/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96232914 | AAGCGATC others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0126 a0001c0001t0001g0136 others(3): Show |
6 | 320 | 0.0188 | -12 | c.164 others(29): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 3/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96243579 | TGAGTGTC others(5): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0125 | 1 | 320 | 0.0031 | -12 | c.114 others(27): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 2/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96254508 | TTGTTTTG others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01106.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0027a0001c0002t0001others(4): Show | a0001c0001t0010g0271 a0001c0001t0027g0057 a0001c0002t0001g0053 others(7): Show |
10 | 311 | 0.0322 | -12 | c.48- others(27): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96273760 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 19 | 0.0526 | -12 | c.-23 others(23): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 2192 | chr10 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8022568 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00639.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0034 a0001c0001t0002g0066 a0001c0001t0002g0082 others(63): Show |
81 | 312 | 0.2596 | -12 | c.384 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047158 | TCTCACAC others(5): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0157 a0001c0001t0001g0164 others(1): Show |
5 | 360 | 0.0139 | -12 | c.196 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01070.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0138 a0001c0001t0001g0161 others(20): Show |
24 | 51 | 0.4706 | -12 | c.196 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S6_chr15_45582379_45614708 | 45610177 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01074.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 10 | 165 | 0.0606 | -12 | c.*36 others(23): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 470 | chr15 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122216085 | GTCTATCT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00738.hp2 others(24): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 others(24): Show |
27 | 161 | 0.1677 | -12 | c.224 others(31): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122288651 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02055.hp2 others(16): Show |
a0001a0003a0008others(2): Show | a0001c0001a0003c0006a0008c0011others(2): Show | a0001c0001t0001a0003c0006t0001a0008c0011t0001others(3): Show | a0001c0001t0001g0302 a0001c0001t0001g0304 a0003c0006t0001g0009 others(16): Show |
19 | 48 | 0.3958 | -12 | c.928 others(29): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 53/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122290812 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 121 | 0.0083 | -12 | c.938 others(31): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122321979 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 11 | 0.0909 | -12 | c.109 others(33): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP2_chr17_28609446_28650158 | 28625334 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 162 | 0.0062 | -12 | c.459 others(29): Show |
BLTP2 | ENSG00000007202.16 | transcript | ENST00000528896.7 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
BLTP2_chr17_28609446_28650158 | 28625353 | AAAAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 306 | 0.0033 | -12 | c.459 others(29): Show |
BLTP2 | ENSG00000007202.16 | transcript | ENST00000528896.7 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
BLTP3A_chr6_34787083_34882514 | 34801701 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(162): Show |
a0002a0003a0004others(13): Show | a0002c0002a0002c0032a0003c0003others(19): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(47): Show | a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 others(159): Show |
165 | 303 | 0.5446 | -12 | c.44+ others(27): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34869640 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(41): Show |
a0001a0012a0019others(1): Show | a0001c0001a0001c0016a0012c0012others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0015others(6): Show | a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 others(40): Show |
44 | 132 | 0.3333 | -12 | c.371 others(31): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100071497 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01346.hp2 | a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0006 | 1 | 48 | 0.0208 | -12 | c.154 others(31): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 12/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100074059 | AGGAAAAG others(5): Show |
A | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 186 | 0.0054 | -12 | c.140 others(31): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 11/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100084378 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG01361.hp1 HG02015.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0001a0002c0003t0001a0003c0002t0001others(3): Show | a0001c0001t0001g0100 a0002c0003t0001g0007 a0002c0003t0001g0012 others(11): Show |
14 | 21 | 0.6667 | -12 | c.128 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 10/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100104884 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01361.hp1 others(1): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0094 a0003c0002t0001g0095 a0003c0002t0001g0096 others(1): Show |
4 | 34 | 0.1176 | -12 | c.208 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100109159 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01496.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0004t0001g0028 others(7): Show |
10 | 34 | 0.2941 | -12 | c.45- others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG03710.hp2 HG04184.hp2 NA20129.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0110 others(1): Show |
4 | 35 | 0.1143 | -12 | c.45- others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124968 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 186 | 0.0054 | -12 | c.45- others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130982 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0165 | 1 | 66 | 0.0152 | -12 | c.44+ others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100131023 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0017 | a0017c0030 | a0017c0030t0001 | a0017c0030t0001g0003 | 1 | 186 | 0.0054 | -12 | c.44+ others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40448608 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01361.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0071 others(28): Show |
34 | 82 | 0.4146 | -12 | c.464 others(27): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40450842 | GTATCTAT others(5): Show |
G | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 194 | 0.0052 | -12 | c.463 others(27): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLZF1_chr1_169363195_169393305 | 169375393 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp2 NA19011.hp1 NA19090.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0023 a0004c0004t0002g0023 |
3 | 46 | 0.0652 | -12 | c.29- others(27): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284106 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02165.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 others(5): Show |
8 | 295 | 0.0271 | -12 | c.-26 others(31): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284152 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 312 | 0.0032 | -12 | c.-26 others(31): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284230 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00673.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0028 others(51): Show |
55 | 263 | 0.2091 | -12 | c.-26 others(31): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13363127 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0135 a0001c0001t0001g0183 others(1): Show |
4 | 36 | 0.1111 | -12 | c.460 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27349447 | AGGAGTTC others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA18951.hp2 NA18957.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 others(4): Show |
7 | 308 | 0.0227 | -12 | c.31+ others(29): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27397066 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 308 | 0.0032 | -12 | c.920 others(29): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15470825 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 150 | 0.0067 | -12 | c.106 others(31): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15534286 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0273 | 1 | 222 | 0.0045 | -12 | c.230 others(31): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40083334 | AGTGTGTG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0113 a0001c0001t0018g0117 |
2 | 119 | 0.0168 | -12 | c.*84 others(23): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4555 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40106541 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01243.hp2 others(28): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0001g0358 others(24): Show |
31 | 412 | 0.0752 | -12 | c.-5- others(25): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40107533 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0349 | 1 | 54 | 0.0185 | -12 | c.-6+ others(25): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMP10_chr2_68855909_68876397 | 68860912 | TTTCTTCA others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0064 | 1 | 414 | 0.0024 | -12 | c.*47 others(23): Show |
BMP10 | ENSG00000163217.2 | transcript | ENST00000295379.2 | protein_coding | 2/2 | 4707 | chr2 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22165882 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0385 | 1 | 47 | 0.0213 | -12 | c.148 others(27): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22165882 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0382 | 1 | 48 | 0.0208 | -12 | c.148 others(27): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |