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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0045 | 1 | 102 | 0.0098 | 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 | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0009 others(24): Show |
80 | 364 | 0.2198 | 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 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0001g0116 a0001c0001t0001g0155 a0001c0001t0001g0166 others(12): Show |
15 | 31 | 0.4839 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0150 a0001c0001t0002g0090 others(13): Show |
16 | 30 | 0.5333 | 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 | 57 | 0.0175 | 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 | 244 | 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 | 300 | 0.0033 | 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 | 290 | 0.0034 | 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 |
a0001a0003a0009 | a0001c0001a0003c0005a0009c0013 | a0001c0001t0001a0003c0005t0008a0009c0013t0001 | a0001c0001t0001g0090 a0003c0005t0008g0130 a0009c0013t0001g0116 |
3 | 117 | 0.0256 | 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 | a0001c0001t0001g0102 | 1 | 115 | 0.0087 | 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 | a0001c0003t0005g0292 | 1 | 76 | 0.0132 | 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 | a0001c0001t0027g0149 a0001c0002t0015g0019 a0003c0006t0008g0279 |
3 | 318 | 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 | a0001c0002t0002g0092 a0002c0003t0001g0282 a0003c0005t0004g0018 |
3 | 230 | 0.0130 | 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 | a0003c0005t0008g0010 a0003c0005t0008g0012 |
2 | 98 | 0.0204 | 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 | a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0138 others(7): Show |
10 | 106 | 0.0943 | 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 | 97 | 0.0103 | 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 | a0001c0001t0001g0202 a0001c0001t0005g0075 a0003c0006t0007g0008 |
3 | 99 | 0.0303 | 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 | 97 | 0.0103 | 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 | a0001c0002t0003g0174 a0003c0012t0004g0012 |
2 | 105 | 0.0190 | 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 | 219 | 0.0046 | 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 | 230 | 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 | a0002c0001t0001g0134 a0002c0001t0001g0248 |
2 | 190 | 0.0105 | 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 | a0002c0001t0001g0150 a0002c0001t0001g0151 |
2 | 190 | 0.0105 | 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 | a0001c0003t0056g0205 a0001c0003t0059g0204 |
2 | 181 | 0.0110 | 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 | a0001c0002t0006g0164 | 1 | 268 | 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 | 86835549 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18949.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002 | a0002c0001t0001g0249 a0002c0001t0002g0181 |
2 | 15 | 0.1333 | 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 | a0001c0003t0020g0157 a0001c0003t0020g0158 |
2 | 276 | 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 | a0001c0002t0006g0164 | 1 | 251 | 0.0040 | 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 | a0002c0001t0001g0202 a0002c0001t0001g0273 |
2 | 183 | 0.0109 | 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(11): Show |
a0002a0003 | a0002c0001a0003c0008 | a0002c0001t0009a0002c0001t0013a0002c0001t0038others(3): Show | a0002c0001t0009g0040 a0002c0001t0009g0041 a0002c0001t0009g0042 others(11): Show |
14 | 110 | 0.1273 | 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 | a0001c0001t0052 | a0001c0001t0052g0134 | 1 | 99 | 0.0101 | 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 | a0001c0001t0003g0034 a0001c0001t0004g0102 a0001c0001t0005g0110 others(6): Show |
9 | 171 | 0.0526 | 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 | a0001c0001t0002a0001c0001t0003a0001c0001t0022 | a0001c0001t0002g0067 a0001c0001t0003g0145 a0001c0001t0022g0219 |
3 | 131 | 0.0229 | 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 | a0001c0001t0052 | a0001c0001t0052g0134 | 1 | 148 | 0.0068 | 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 | 84 | 0.0119 | 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 | a0001c0001t0006g0105 a0001c0002t0002g0033 a0001c0002t0002g0064 others(2): Show |
5 | 16 | 0.3125 | 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 | a0001c0002t0012g0065 | 1 | 136 | 0.0074 | 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 | a0001c0002t0002g0049 | 1 | 136 | 0.0074 | 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 | a0001c0001t0003g0208 a0001c0001t0003g0209 |
2 | 192 | 0.0104 | 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 | a0001c0001t0001g0180 a0001c0001t0024g0077 a0001c0001t0031g0118 others(3): Show |
6 | 15 | 0.4000 | 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 | 39 | 0.0256 | 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 | a0001c0001t0003g0028 | 1 | 3 | 0.3333 | 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 | a0001c0001t0001a0001c0001t0045a0001c0001t0085others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0045g0096 others(8): Show |
11 | 168 | 0.0655 | 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 | 42 | 0.0238 | 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 |
a0001a0007a0010 | a0001c0001a0001c0002a0007c0017others(1): Show | a0001c0001t0004a0001c0001t0021a0001c0001t0042others(5): Show | a0001c0001t0004g0006 a0001c0001t0021g0064 a0001c0001t0042g0100 others(5): Show |
8 | 49 | 0.1633 | 15 | c.330 others(34): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16732162 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG01123.hp2 others(11): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(10): Show | a0001c0001t0003g0016 a0001c0001t0005g0102 a0001c0001t0015g0145 others(11): Show |
14 | 35 | 0.4000 | 15 | c.130 others(32): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16780238 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0064 | 1 | 174 | 0.0057 | 15 | c.4-4 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16780249 | A | AAAACAAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01433.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0080a0001c0005t0030others(6): Show | a0001c0001t0001g0125 a0001c0001t0080g0083 a0001c0005t0030g0051 others(6): Show |
9 | 172 | 0.0523 | 15 | c.4-4 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16811230 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0077a0001c0001t0096others(3): Show | a0001c0001t0001g0056 a0001c0001t0077g0011 a0001c0001t0096g0055 others(3): Show |
6 | 35 | 0.1714 | 15 | c.3+5 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13566406 | C | CTTGATCT others(8): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 256 | 0.0039 | 15 | c.*36 others(26): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 2331 | chr4 | TogoVar |