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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLTP3A_chr6_34787083_34882514 | 34792126 | T | TGGCGGCG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG02145.hp2 HG04115.hp2 HG06807.hp1 others(1): Show |
a0002a0007a0016 | a0002c0002a0007c0007a0016c0028 | a0002c0002t0037a0007c0007t0019a0016c0028t0019 | a0002c0002t0037g0074a0007c0007t0019g0307a0007c0007t0019g0308others(1): Show | 4 | 312 | 0.0128 | 15 | c.-12 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/21 | 109 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
BLTP3A_chr6_34787083_34882514 | 34846077 | T | TCCCTCCC others(8): Show |
intron_variant | MODIFIER | HG02165.hp1 HG03471.hp1 NA19068.hp1 |
a0002a0019 | a0002c0002a0002c0032a0019c0025 | a0002c0002t0002a0002c0032t0002a0019c0025t0005 | a0002c0002t0002g0052a0002c0032t0002g0073a0019c0025t0005g0046 | 3 | 312 | 0.0096 | 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 | C | CCCTCTCC others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 HG06807.hp2 NA18994.hp2 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0004a0007c0007t0024 | a0001c0001t0004g0286a0007c0007t0024g0018a0007c0007t0024g0019 | 3 | 312 | 0.0096 | 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 | 100123678 | T | TAAATTTT others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 188 | 0.0053 | 15 | c.45- others(32): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100140723 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 |
a0001a0022 | a0001c0001a0022c0014 | a0001c0001t0001a0022c0014t0001 | a0001c0001t0001g0103a0022c0014t0001g0104 | 2 | 188 | 0.0106 | 15 | c.44+ others(30): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0048 | 1 | 188 | 0.0053 | 15 | c.44+ others(30): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLZF1_chr1_169363195_169393305 | 169375329 | C | CACATATA others(8): Show |
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 | |||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(3): Show | a0001c0001t0001g0167a0001c0001t0001g0169a0001c0001t0001g0170others(12): Show | 15 | 310 | 0.0484 | 15 | c.32- others(30): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02015.hp2 HG02165.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0150a0001c0001t0002g0103others(13): Show | 16 | 291 | 0.0550 | 15 | c.106 others(32): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMF_chr15_40082890_40113879 | 40106517 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0214 | 1 | 414 | 0.0024 | 15 | c.-5- others(28): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMI1_chr10_22316099_22336484 | 22321860 | C | CGCCCCGC others(8): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 246 | 0.0041 | 15 | c.-20 others(30): Show |
BMI1 | ENSG00000168283.14 | transcript | ENST00000376663.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMP1_chr8_22160372_22206482 | 22183591 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 418 | 0.0024 | 15 | c.107 others(34): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP1_chr8_22160372_22217326 | 22183591 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 408 | 0.0025 | 15 | c.107 others(34): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTCTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG03471.hp2 |
a0001a0003a0010 | a0001c0001a0003c0005a0010c0013 | a0001c0001t0001a0003c0005t0008a0010c0013t0001 | a0001c0001t0001g0088a0003c0005t0008g0132a0010c0013t0001g0116 | 3 | 204 | 0.0147 | 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 | T | TTTCTTTT others(8): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 204 | 0.0049 | 15 | c.297 others(32): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP5_chr6_55748653_55880590 | 55759144 | C | CACACAAA others(8): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0293 | 1 | 320 | 0.0031 | 15 | c.110 others(30): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55837349 | A | AGATAGAT others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03516.hp2 NA19240.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0027a0001c0002t0015a0003c0006t0008 | a0001c0001t0027g0149a0001c0002t0015g0019a0003c0006t0008g0279 | 3 | 320 | 0.0094 | 15 | c.491 others(34): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813086 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03490.hp1 NA18967.hp1 NA18982.hp2 |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0005 | a0001c0002t0002a0002c0003t0001a0003c0005t0004 | a0001c0002t0002g0092a0002c0003t0001g0284a0003c0005t0004g0016 | 3 | 308 | 0.0097 | 15 | c.665 others(34): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0003 | a0003c0005 | a0003c0005t0008 | a0003c0005t0008g0008a0003c0005t0008g0010 | 2 | 308 | 0.0065 | 15 | c.665 others(34): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02074.hp1 HG02074.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(2): Show | a0001c0001t0001g0127a0001c0001t0001g0134a0001c0001t0001g0138others(7): Show | 10 | 308 | 0.0325 | 15 | c.665 others(34): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 308 | 0.0033 | 15 | c.665 others(34): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18949.hp1 NA18980.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0005a0003c0006t0007 | a0001c0001t0001g0202a0001c0001t0005g0075a0003c0006t0007g0006 | 3 | 308 | 0.0097 | 15 | c.665 others(34): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0085 | 1 | 308 | 0.0033 | 15 | c.665 others(34): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34024357 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02809.hp2 NA20129.hp1 |
a0001a0003 | a0001c0002a0003c0012 | a0001c0002t0003a0003c0012t0004 | a0001c0002t0003g0174a0003c0012t0004g0012 | 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 | |||||
BMPER_chr7_33900539_34161427 | 34065248 | C | CTCTCTCT others(8): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 232 | 0.0043 | 15 | c.107 others(34): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34129681 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 | 1 | 232 | 0.0043 | 15 | c.174 others(36): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790188 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03704.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0133a0002c0001t0001g0238 | 2 | 278 | 0.0072 | 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 | 86790188 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0149a0002c0001t0001g0150 | 2 | 278 | 0.0072 | 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 | 86797247 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 |
a0001 | a0001c0003 | a0001c0003t0056a0001c0003t0059 | a0001c0003t0056g0252a0001c0003t0059g0210 | 2 | 278 | 0.0072 | 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 | 86799507 | T | TTCCTTCC others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0163 | 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 | 86835549 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18949.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002 | a0002c0001t0001g0260a0002c0001t0002g0199 | 2 | 278 | 0.0072 | 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 | 86848254 | G | GATTTATT others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 |
a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0156a0001c0003t0020g0157 | 2 | 278 | 0.0072 | 15 | c.-15 others(34): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86866399 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0163 | 1 | 278 | 0.0036 | 15 | c.-15 others(34): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86906723 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18999.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0209a0002c0001t0001g0272 | 2 | 278 | 0.0072 | 15 | c.531 others(32): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86925721 | C | CTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG00735.hp2 others(12): Show |
a0002a0003 | a0002c0001a0003c0008 | a0002c0001t0009a0002c0001t0013a0002c0001t0038others(3): Show | a0002c0001t0009g0001a0002c0001t0009g0041a0002c0001t0009g0042others(11): Show | 15 | 278 | 0.0540 | 15 | c.*20 others(26): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 13/13 | 2020 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
BMPR1B_chr4_94752955_95163448 | 94770180 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0134 | 1 | 226 | 0.0044 | 15 | c.-18 others(36): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94908093 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01978.hp2 HG02647.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0032a0001c0001t0004g0104a0001c0001t0005g0110others(6): Show | 9 | 226 | 0.0398 | 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 | 94970239 | T | TTCTTCTC others(8): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03834.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0067a0001c0001t0003g0145a0001c0001t0023g0216 | 3 | 226 | 0.0133 | 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 | 94970302 | T | TCTTTCTC others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0134 | 1 | 226 | 0.0044 | 15 | c.-11 others(36): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95026098 | A | ATTCTTTC others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 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 | |||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002 | a0001c0001t0006g0079a0001c0002t0002g0034a0001c0002t0002g0048others(2): Show | 5 | 224 | 0.0223 | 15 | c.76+ others(30): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0064 | 1 | 224 | 0.0045 | 15 | c.77- others(32): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 224 | 0.0045 | 15 | c.77- others(32): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202481168 | T | TTTCTCTT others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208a0001c0001t0003g0209 | 2 | 224 | 0.0089 | 15 | c.418 others(34): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202485545 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03098.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0024a0001c0001t0031others(1): Show | a0001c0001t0001g0172a0001c0001t0024g0072a0001c0001t0031g0120others(3): Show | 6 | 224 | 0.0268 | 15 | c.418 others(34): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202546903 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0016 | 1 | 224 | 0.0045 | 15 | c.141 others(34): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202572271 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 224 | 0.0045 | 15 | c.*12 others(28): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 4523 | chr2 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16539758 | G | GGAAAGGA others(8): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01516.hp2 HG02015.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0051a0001c0001t0085others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0044a0001c0001t0051g0096others(8): Show | 11 | 176 | 0.0625 | 15 | c.669 others(34): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16616790 | G | GGAAGGAA others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0087 | 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 | 16663130 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(5): Show |
a0001a0010a0013 | a0001c0001a0001c0002a0010c0009others(1): Show | a0001c0001t0004a0001c0001t0021a0001c0001t0048others(5): Show | a0001c0001t0004g0005a0001c0001t0021g0064a0001c0001t0048g0101others(5): Show | 8 | 176 | 0.0455 | 15 | c.330 others(34): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar |