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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0003c0003t0002g0129a0003c0003t0002g0192a0003c0003t0002g0197others(7): Show | 10 | 280 | 0.0357 | -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 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0036others(76): Show | 79 | 280 | 0.2821 | -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 | a0001c0001t0002g0252a0001c0001t0002g0253a0001c0001t0003g0002others(62): Show | 76 | 364 | 0.2088 | -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 | a0001c0005t0002g0001a0001c0005t0002g0004a0001c0005t0002g0005others(2): Show | 6 | 336 | 0.0179 | -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 |
a0001a0015 | a0001c0002a0001c0007a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0008a0001c0007t0001others(8): Show | a0001c0002t0001g0002a0001c0002t0001g0008a0001c0002t0001g0014others(86): Show | 90 | 336 | 0.2679 | -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 | a0003c0003t0009g0101a0003c0003t0009g0114a0003c0003t0009g0117others(3): Show | 6 | 312 | 0.0192 | -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 | a0001c0001t0001g0234a0008c0009t0014g0167a0008c0009t0014g0168others(2): Show | 5 | 312 | 0.0160 | -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 | a0001c0009t0001g0137 | 1 | 188 | 0.0053 | -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 | a0001c0002t0001g0325 | 1 | 414 | 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(74): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0073others(67): Show | 77 | 362 | 0.2127 | -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 | a0002c0002t0001g0001a0002c0002t0001g0005a0002c0002t0001g0007others(25): Show | 80 | 366 | 0.2186 | -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 | a0001c0001t0001g0044a0001c0001t0001g0046a0001c0001t0001g0127others(2): Show | 7 | 366 | 0.0191 | -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 | a0001c0001t0001g0138 | 1 | 314 | 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 | a0001c0001t0001g0118a0001c0001t0001g0153a0001c0001t0001g0289others(3): Show | 6 | 314 | 0.0191 | -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 | a0001c0002t0003g0054 | 1 | 291 | 0.0034 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | 291 | 0.0069 | -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 | 291 | 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 | a0001c0006t0004g0141a0001c0006t0004g0142a0001c0006t0004g0143others(11): Show | 14 | 204 | 0.0686 | -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 | a0002c0002t0002g0164a0002c0002t0002g0187a0002c0002t0002g0189others(6): Show | 9 | 204 | 0.0441 | -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 | a0001c0001t0006g0030a0005c0004t0005g0024a0005c0004t0005g0027others(3): Show | 6 | 204 | 0.0294 | -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 |
a0008a0011 | a0008c0014a0011c0026 | a0008c0014t0023a0008c0014t0024a0011c0026t0025 | a0008c0014t0023g0111a0008c0014t0024g0110a0011c0026t0025g0109 | 3 | 204 | 0.0147 | -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 | a0001c0001t0001g0198a0001c0001t0001g0200a0001c0001t0001g0222others(24): Show | 27 | 320 | 0.0844 | -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(176): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0037others(176): Show | 179 | 308 | 0.5812 | -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 | a0003c0003t0003g0002a0003c0003t0003g0013a0003c0003t0003g0021others(38): Show | 52 | 362 | 0.1437 | -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 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0002g0047others(10): Show | 13 | 232 | 0.0560 | -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 | 232 | 0.0043 | -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 | 232 | 0.0043 | -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 | a0001c0001t0001g0010a0001c0003t0007g0105a0001c0004t0004g0112 | 3 | 232 | 0.0129 | -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 | a0001c0001t0013g0022a0001c0010t0012g0008 | 2 | 232 | 0.0086 | -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 | a0002c0001t0012g0245 | 1 | 278 | 0.0036 | -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 | a0002c0001t0012g0262 | 1 | 278 | 0.0036 | -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 | a0002c0001t0012g0242a0002c0001t0026g0255a0002c0001t0026g0261 | 3 | 278 | 0.0108 | -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 | a0001c0002t0083g0198 | 1 | 278 | 0.0036 | -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 | a0001c0002t0061g0164a0002c0001t0015g0073a0002c0001t0044g0078 | 3 | 278 | 0.0108 | -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 | a0001c0002t0061g0164a0002c0001t0002g0174 | 2 | 278 | 0.0072 | -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 | a0002c0001t0002g0223 | 1 | 278 | 0.0036 | -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 | a0001c0001t0001g0006a0001c0001t0001g0122a0001c0001t0001g0146others(9): Show | 12 | 226 | 0.0531 | -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 | 226 | 0.0044 | -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 | 226 | 0.0044 | -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 | a0001c0001t0001g0092 | 1 | 224 | 0.0045 | -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 |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0007a0001c0001t0014a0001c0001t0042others(1): Show | a0001c0001t0007g0097a0001c0001t0014g0144a0001c0001t0042g0191others(1): Show | 4 | 224 | 0.0179 | -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 | a0001c0003t0001g0270 | 1 | 388 | 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 | a0001c0001t0001g0141 | 1 | 206 | 0.0049 | -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 | a0001c0001t0034 | a0001c0001t0034g0115 | 1 | 176 | 0.0057 | -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 | a0001c0001t0001g0031a0001c0001t0001g0120a0001c0001t0008g0174others(3): Show | 6 | 176 | 0.0341 | -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 | a0001c0001t0078 | a0001c0001t0078g0011 | 1 | 176 | 0.0057 | -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 | a0001c0001t0001g0021a0001c0001t0001g0048a0001c0001t0002g0167others(41): Show | 44 | 176 | 0.2500 | -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 | a0001c0001t0001g0025 | 2 | 352 | 0.0057 | -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 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0097others(9): Show | 18 | 352 | 0.0511 | -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 | 438 | 0.0023 | -15 | c.*42 others(26): Show |
BNIP3 | ENSG00000176171.12 | transcript | ENST00000368636.9 | protein_coding | 3416 | chr10 | TogoVar |