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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLM_chr15_90712346_90821166 | 90789987 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01515.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003 | a0003c0003t0002g0124 a0003c0003t0002g0179 a0003c0003t0002g0187 others(7): Show |
10 | 57 | 0.1754 | -15 | c.282 others(32): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90797414 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0019a0001c0022others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0019t0001others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 others(76): Show |
79 | 117 | 0.6752 | -15 | c.321 others(32): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8058357 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0003g0001 others(57): Show |
76 | 138 | 0.5507 | -15 | c.195 others(32): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122247596 | CTTCTATT others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 others(2): Show |
6 | 334 | 0.0180 | -15 | c.551 others(32): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 35/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122321979 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(87): Show |
a0001a0017 | a0001c0002a0001c0007a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0008a0001c0007t0001others(8): Show | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0014 others(86): Show |
90 | 100 | 0.9000 | -15 | c.109 others(36): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34846077 | TCCCTCCC others(8): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01106.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0102 a0003c0003t0009g0113 a0003c0003t0009g0116 others(3): Show |
6 | 158 | 0.0380 | -15 | c.103 others(34): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34852533 | CCCTCTCC others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02717.hp1 HG02970.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0014 | a0001c0001t0001g0228 a0008c0009t0014g0164 a0008c0009t0014g0165 others(2): Show |
5 | 229 | 0.0218 | -15 | c.103 others(34): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100131019 | GAGAGAGA others(8): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0155 | 1 | 186 | 0.0054 | -15 | c.44+ others(32): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLVRA_chr7_43753680_43812342 | 43765977 | AAATAAAA others(8): Show |
A | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0322 | 1 | 412 | 0.0024 | -15 | c.-21 others(32): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40459327 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(73): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(66): Show |
76 | 155 | 0.4903 | -15 | c.80- others(28): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
BLZF1_chr1_169363195_169393305 | 169375341 | TAAAACAT others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(77): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007a0002c0002t0008others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0009 others(24): Show |
80 | 363 | 0.2204 | -15 | c.29- others(30): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BLZF1_chr1_169363195_169393305 | 169393252 | TTTCTTAC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0129 others(2): Show |
7 | 364 | 0.0192 | -15 | c.*60 others(26): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 4948 | chr1 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13284252 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 312 | 0.0032 | -15 | c.-26 others(34): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13365083 | GTTGGAGA others(8): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0152 a0001c0001t0001g0288 others(3): Show |
6 | 312 | 0.0192 | -15 | c.460 others(30): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15462137 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0041 | 1 | 48 | 0.0208 | -15 | c.106 others(34): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15468135 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 250 | 0.0080 | -15 | c.106 others(34): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15518791 | GGAAGGGA others(8): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 290 | 0.0034 | -15 | c.230 others(32): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829777 | TTTCTTTT others(8): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(11): Show |
a0001a0002a0006others(1): Show | a0001c0006a0002c0002a0006c0007others(1): Show | a0001c0006t0004a0002c0002t0002a0002c0002t0007others(2): Show | a0001c0006t0004g0139 a0001c0006t0004g0141 a0001c0006t0004g0142 others(11): Show |
14 | 176 | 0.0795 | -15 | c.297 others(32): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829782 | TTTCTTTT others(8): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG03831.hp1 NA18945.hp1 others(6): Show |
a0002 | a0002c0002a0002c0019 | a0002c0002t0002a0002c0019t0006 | a0002c0002t0002g0162 a0002c0002t0002g0185 a0002c0002t0002g0187 others(6): Show |
9 | 189 | 0.0476 | -15 | c.297 others(32): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829787 | TTTCTCTT others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02647.hp2 others(3): Show |
a0001a0005a0013 | a0001c0001a0005c0004a0013c0023 | a0001c0001t0006a0005c0004t0005a0005c0004t0006others(1): Show | a0001c0001t0006g0032 a0005c0004t0005g0026 a0005c0004t0005g0028 others(3): Show |
6 | 120 | 0.0500 | -15 | c.297 others(32): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78870928 | CCAGCAGC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG02280.hp1 HG02976.hp2 NA18522.hp1 |
a0008 | a0008c0014a0008c0026 | a0008c0014t0024a0008c0014t0025a0008c0026t0026 | a0008c0014t0024g0111 a0008c0014t0025g0110 a0008c0026t0026g0109 |
3 | 176 | 0.0170 | -15 | c.138 others(24): Show |
p.Gln others(13): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 11/16 | 1583/8012 | 1389/3486 | 463/1161 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
BMP5_chr6_55748653_55880590 | 55853138 | TAAATAAA others(8): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01167.hp1 HG01261.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0222 others(24): Show |
27 | 47 | 0.5745 | -15 | c.490 others(34): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7813192 | ATAATTTG others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(175): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 others(175): Show |
178 | 306 | 0.5817 | -15 | c.665 others(34): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP8A_chr1_39486636_39534869 | 39488295 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(49): Show |
a0003a0004a0007others(4): Show | a0003c0003a0004c0004a0007c0007others(4): Show | a0003c0003t0003a0003c0003t0013a0003c0003t0050others(13): Show | a0003c0003t0003g0001 a0003c0003t0003g0013 a0003c0003t0003g0022 others(38): Show |
52 | 177 | 0.2938 | -15 | c.-36 others(26): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 3340 | chr1 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 33941154 | AATTTATA others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00621.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0002g0047 others(10): Show |
13 | 230 | 0.0565 | -15 | c.319 others(32): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024377 | AAAAAACA others(8): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0022 | 1 | 229 | 0.0044 | -15 | c.577 others(34): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024383 | CAATATAT others(8): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 | 1 | 218 | 0.0046 | -15 | c.577 others(34): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024385 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0007a0001c0004t0004 | a0001c0001t0001g0010 a0001c0003t0007g0105 a0001c0004t0004g0112 |
3 | 229 | 0.0131 | -15 | c.577 others(34): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | chr7 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 34028601 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0013a0001c0010t0012 | a0001c0001t0013g0022 a0001c0010t0012g0008 |
2 | 43 | 0.0465 | -15 | c.577 others(34): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790181 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0258 | 1 | 269 | 0.0037 | -15 | c.-26 others(36): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790183 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0254 | 1 | 271 | 0.0037 | -15 | c.-26 others(36): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790185 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01361.hp1 NA18986.hp2 |
a0002 | a0002c0001 | a0002c0001t0012a0002c0001t0026 | a0002c0001t0012g0253 a0002c0001t0026g0216 a0002c0001t0026g0255 |
3 | 269 | 0.0112 | -15 | c.-26 others(36): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790189 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0083 | a0001c0002t0083g0176 | 1 | 206 | 0.0049 | -15 | c.-26 others(36): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86835549 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA18955.hp1 NA18994.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0061a0002c0001t0015a0002c0001t0044 | a0001c0002t0061g0165 a0002c0001t0015g0072 a0002c0001t0044g0077 |
3 | 16 | 0.1875 | -15 | c.-26 others(34): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86884394 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02965.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0061a0002c0001t0002 | a0001c0002t0061g0165 a0002c0001t0002g0179 |
2 | 25 | 0.0800 | -15 | c.68- others(30): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86906723 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0226 | 1 | 182 | 0.0055 | -15 | c.531 others(32): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94970239 | TTCTTCTC others(8): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01255.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0122 a0001c0001t0001g0146 others(9): Show |
12 | 140 | 0.0857 | -15 | c.-11 others(36): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95049419 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 4 | 0.2500 | -15 | c.-18 others(34): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95132470 | TATGAAGG others(8): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0177 | 1 | 224 | 0.0045 | -15 | c.107 others(32): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202373158 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 59 | 0.0169 | -15 | c.-43 others(26): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3168 | chr2 | TogoVar | |||||||
BMPR2_chr2_202371327_202572749 | 202546903 | GTGTTTTG others(8): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG03195.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0007a0001c0001t0014a0001c0001t0042others(1): Show | a0001c0001t0007g0082 a0001c0001t0014g0144 a0001c0001t0042g0190 others(1): Show |
4 | 42 | 0.0952 | -15 | c.141 others(34): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMS1_chr10_42777795_42839937 | 42839153 | TCCTGCCT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0251 | 1 | 386 | 0.0026 | -15 | c.*80 others(26): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 4217 | chr10 | TogoVar | |||||||
BMT2_chr7_112814147_112944875 | 112902424 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 196 | 0.0051 | -15 | c.303 others(32): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16539753 | GGAAAGGA others(8): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0116 | 1 | 161 | 0.0062 | -15 | c.669 others(34): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16539768 | AGAAAGGA others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0096others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0121 a0001c0001t0008g0174 others(3): Show |
6 | 67 | 0.0896 | -15 | c.669 others(34): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16614958 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0011 | 1 | 2 | 0.5000 | -15 | c.331 others(34): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16665443 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01109.hp2 others(41): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0002g0141 others(41): Show |
44 | 160 | 0.2750 | -15 | c.330 others(34): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNIP1_chr5_173139531_173169387 | 173148082 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 339 | 0.0059 | -15 | c.177 others(32): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173148084 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01081.hp2 others(15): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0033 others(6): Show |
18 | 246 | 0.0732 | -15 | c.177 others(32): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | chr5 | TogoVar | |||||||
BNIP3_chr10_131962684_131986923 | 131964267 | CTAACTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 436 | 0.0023 | -15 | c.*42 others(26): Show |
BNIP3 | ENSG00000176171.12 | transcript | ENST00000368636.9 | protein_coding | 3416 | chr10 | TogoVar |