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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLOC1S5_chr6_8008567_8069389 | 8058357 | GAAAAAAA others(9): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG02056.hp1 HG02080.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0123a0001c0001t0003g0216a0001c0001t0004g0010others(6): Show | 11 | 364 | 0.0302 | -16 | c.195 others(33): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122216085 | GTCTATCT others(9): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp2 others(44): Show |
a0001a0019 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0181a0001c0001t0001g0183a0001c0001t0001g0189others(44): Show | 47 | 336 | 0.1399 | -16 | c.224 others(35): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122262148 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | NA18984.hp1 NA18993.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0130a0002c0004t0001g0131 | 2 | 336 | 0.0060 | -16 | c.676 others(33): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 42/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122288651 | CTAAATAA others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(90): Show |
a0001a0015 | a0001c0002a0001c0008a0001c0009others(9): Show | a0001c0002t0001a0001c0002t0008a0001c0008t0001others(10): Show | a0001c0002t0001g0002a0001c0002t0001g0008a0001c0002t0001g0014others(89): Show | 93 | 336 | 0.2768 | -16 | c.928 others(33): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 53/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122321979 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG03704.hp2 NA18957.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053a0001c0002t0001g0063a0001c0002t0001g0076others(1): Show | 4 | 336 | 0.0119 | -16 | c.109 others(37): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100084378 | TCACACAC others(9): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02486.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0004a0002c0003a0003c0002others(3): Show | a0001c0004t0001a0002c0003t0001a0003c0002t0001others(3): Show | a0001c0004t0001g0028a0001c0004t0001g0029a0001c0004t0001g0040others(13): Show | 16 | 188 | 0.0851 | -16 | c.128 others(31): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 10/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100109159 | CCTCTCTC others(9): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG02615.hp1 others(6): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0009a0003c0002others(3): Show | a0001c0001t0001a0001c0009t0001a0003c0002t0001others(3): Show | a0001c0001t0001g0088a0001c0001t0001g0090a0001c0001t0001g0091others(6): Show | 9 | 188 | 0.0479 | -16 | c.45- others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100130982 | GGAGAGAG others(9): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0131a0001c0009t0001g0132 | 2 | 188 | 0.0106 | -16 | c.44+ others(33): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40448608 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(3): Show | 7 | 362 | 0.0193 | -16 | c.464 others(31): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40459327 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03017.hp1 HG03195.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0002g0008others(8): Show | 12 | 362 | 0.0332 | -16 | c.80- others(29): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BLZF1_chr1_169363195_169393305 | 169375393 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 366 | 0.0027 | -16 | c.29- others(31): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13365282 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125a0001c0001t0002g0126 | 2 | 314 | 0.0064 | -16 | c.460 others(31): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27381348 | AGTTTAAT others(9): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0256a0001c0001t0022g0257 | 2 | 310 | 0.0065 | -16 | c.484 others(31): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15462137 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(2): Show | 5 | 291 | 0.0172 | -16 | c.106 others(35): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15517883 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(3): Show | 6 | 291 | 0.0206 | -16 | c.230 others(33): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78873656 | CTCTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG03540.hp2 HG04228.hp2 others(3): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0004a0002c0002t0002 | a0001c0006t0004g0153a0001c0006t0004g0201a0002c0002t0002g0155others(3): Show | 6 | 204 | 0.0294 | -16 | c.179 others(33): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78911258 | GCAAGAAG others(9): Show |
G | frameshift_variant | HIGH | HG02040.hp2 | a0012 | a0012c0025 | a0012c0025t0019 | a0012c0025t0019g0203 | 1 | 204 | 0.0049 | -16 | c.271 others(25): Show |
p.Lys others(5): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 16/16 | 2912/8012 | 2718/3486 | 906/1161 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
BMP2_chr20_6762686_6785246 | 6771030 | CGTGGGAG others(9): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02970.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 3 | 464 | 0.0065 | -16 | c.346 others(31): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55850350 | GTAGGTAG others(9): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021 | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0002g0206others(1): Show | 4 | 320 | 0.0125 | -16 | c.490 others(35): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55850354 | GTAGATAG others(9): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 320 | 0.0031 | -16 | c.490 others(35): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7791986 | TTGGATGG others(9): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01255.hp2 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0100a0001c0001t0001g0117a0001c0001t0001g0121others(53): Show | 56 | 308 | 0.1818 | -16 | c.665 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG02015.hp1 NA18950.hp2 |
a0002a0003 | a0002c0004a0003c0006 | a0002c0004t0010a0003c0006t0007 | a0002c0004t0010g0248a0003c0006t0007g0002 | 2 | 308 | 0.0065 | -16 | c.665 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7879024 | GTTGATGG others(9): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0232 | 1 | 308 | 0.0033 | -16 | c.120 others(31): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP7_chr20_57163753_57271641 | 57209249 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0003 | a0001c0001t0003g0024a0001c0001t0003g0040a0001c0001t0006g0243others(2): Show | 5 | 272 | 0.0184 | -16 | c.612 others(33): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57232852 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 272 | 0.0037 | -16 | c.419 others(33): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
BMP8A_chr1_39486636_39534869 | 39488295 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | NA18969.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0002 | 1 | 362 | 0.0028 | -16 | c.-36 others(27): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 3340 | chr1 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024382 | ACAATATA others(9): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 232 | 0.0043 | -16 | c.577 others(35): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024384 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(20): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0130a0001c0001t0001g0164a0001c0001t0001g0166others(20): Show | 23 | 232 | 0.0991 | -16 | c.577 others(35): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34028601 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG02258.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(2): Show | a0001c0001t0001g0077a0001c0001t0007g0004a0001c0003t0001g0172others(2): Show | 5 | 232 | 0.0216 | -16 | c.577 others(35): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34065203 | ACTCTCTC others(9): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG03139.hp2 |
a0001 | a0001c0004a0001c0005a0001c0007 | a0001c0004t0003a0001c0005t0007a0001c0007t0003 | a0001c0004t0003g0202a0001c0005t0007g0096a0001c0007t0003g0201 | 3 | 232 | 0.0129 | -16 | c.107 others(35): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86751644 | CGTGCGCA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(91): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(24): Show | a0001c0002t0003g0048a0001c0002t0003g0065a0001c0002t0003g0068others(90): Show | 94 | 278 | 0.3381 | -16 | c.-55 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 4974 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790178 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0026 | 1 | 278 | 0.0036 | -16 | c.-26 others(37): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790184 | AAAAAATA others(9): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0188 | 1 | 278 | 0.0036 | -16 | c.-26 others(37): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790186 | AAAATATA others(9): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02523.hp1 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0001 | a0002c0001t0009a0002c0001t0015 | a0002c0001t0009g0001a0002c0001t0015g0044 | 3 | 278 | 0.0108 | -16 | c.-26 others(37): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790188 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01952.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0008 | a0001c0002t0003a0002c0001t0013a0003c0008t0013 | a0001c0002t0003g0084a0001c0002t0003g0095a0001c0002t0003g0140others(3): Show | 6 | 278 | 0.0216 | -16 | c.-26 others(37): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86835549 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01952.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0039a0002c0001t0002a0002c0001t0009others(3): Show | a0001c0002t0039g0013a0002c0001t0002g0196a0002c0001t0009g0001others(9): Show | 13 | 278 | 0.0468 | -16 | c.-26 others(35): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86906723 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03453.hp1 NA20805.hp1 |
a0002 | a0002c0001 | a0002c0001t0053a0002c0001t0077a0002c0001t0078 | a0002c0001t0053g0232a0002c0001t0077g0184a0002c0001t0078g0243 | 3 | 278 | 0.0108 | -16 | c.531 others(33): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94902046 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01069.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0057a0001c0001t0001g0069a0001c0001t0001g0120others(19): Show | 22 | 226 | 0.0974 | -16 | c.-11 others(37): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94902249 | CAGAGAGA others(9): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG06807.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0021 | a0001c0001t0003g0031a0001c0001t0005g0022a0001c0002t0021g0014 | 3 | 226 | 0.0133 | -16 | c.-11 others(37): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94962072 | TTTCCTTC others(9): Show |
T | intron_variant | MODIFIER | HG03017.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0225a0001c0001t0008g0041 | 2 | 226 | 0.0089 | -16 | c.-11 others(37): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 95120610 | TTTCCTTC others(9): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0015 | a0001c0001t0011g0012a0001c0001t0011g0024a0001c0001t0015g0023others(2): Show | 5 | 226 | 0.0221 | -16 | c.350 others(33): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202373158 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03225.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0045 | a0001c0001t0003g0027a0001c0001t0005g0160a0001c0001t0045g0032 | 3 | 224 | 0.0134 | -16 | c.-43 others(27): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3168 | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202390980 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0120 | 1 | 224 | 0.0045 | -16 | c.76+ others(33): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202393882 | CGAGAGAG others(9): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0205 | 1 | 224 | 0.0045 | -16 | c.76+ others(33): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202456063 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG04184.hp1 HG04199.hp2 NA19090.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0046 | a0001c0002t0002g0054a0001c0002t0002g0066a0001c0002t0046g0074 | 3 | 224 | 0.0134 | -16 | c.77- others(31): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202557464 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00621.hp1 NA18987.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034a0001c0002t0002g0051a0001c0002t0002g0065others(1): Show | 4 | 224 | 0.0179 | -16 | c.286 others(33): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMS1_chr10_42777795_42839937 | 42779045 | CAAAAAAA others(9): Show |
C | upstream_gene_variant | MODIFIER | NA18943.hp1 NA18977.hp1 NA19079.hp1 |
a0001a0005 | a0001c0003a0005c0007 | a0001c0003t0001a0005c0007t0001 | a0001c0003t0001g0002a0001c0003t0001g0200a0005c0007t0001g0002 | 3 | 388 | 0.0077 | -16 | c.-38 others(27): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 3749 | chr10 | TogoVar | ||||||
BMX_chrX_15495807_15561519 | 15498561 | TCTCTCTC others(9): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01358.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(20): Show | 29 | 216 | 0.1343 | -16 | c.-23 others(27): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 2245 | chrX | TogoVar | ||||||
BMX_chrX_15495807_15561519 | 15527247 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(138): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(120): Show | 141 | 216 | 0.6528 | -16 | c.884 others(33): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BNC2_chr9_16404503_16875670 | 16412720 | GGAGAGAG others(9): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG01928.hp1 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0003a0001c0001t0086a0001c0005t0073others(1): Show | a0001c0001t0003g0016a0001c0001t0003g0046a0001c0001t0003g0063others(5): Show | 8 | 176 | 0.0455 | -16 | c.*62 others(27): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 7/7 | 6253 | chr9 | TogoVar |