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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMAL1_chr11_13272790_13392266 | 13314229 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 others(8): Show |
11 | 91 | 0.1209 | 8 | c.-19 others(27): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13325657 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(121): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(119): Show |
124 | 139 | 0.8921 | 8 | c.-18 others(25): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13339430 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(117): Show |
122 | 252 | 0.4841 | 8 | c.-13 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13365282 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01433.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0051 others(9): Show |
12 | 70 | 0.1714 | 8 | c.460 others(23): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27335814 | A | AAGGGGAG others(1): Show |
intron_variant | MODIFIER | NA18981.hp2 NA18989.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0259 |
3 | 308 | 0.0097 | 8 | c.31+ others(23): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27420019 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00639.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(73): Show |
81 | 89 | 0.9101 | 8 | c.177 others(25): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15452323 | G | GGAGGGAG others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02015.hp2 HG02074.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0046 others(6): Show |
9 | 78 | 0.1154 | 8 | c.106 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15452335 | A | AGAGGGAG others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG02257.hp1 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0223 others(20): Show |
23 | 290 | 0.0793 | 8 | c.106 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15512012 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02015.hp1 NA18970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0046 a0001c0001t0001g0125 a0001c0001t0001g0233 others(3): Show |
6 | 39 | 0.1538 | 8 | c.107 others(25): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15519074 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0096 others(57): Show |
60 | 95 | 0.6316 | 8 | c.230 others(25): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15529015 | G | GTGTTTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(16): Show |
19 | 280 | 0.0679 | 8 | c.230 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15591594 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG02258.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0046 a0001c0001t0001g0099 a0001c0001t0001g0227 others(4): Show |
7 | 57 | 0.1228 | 8 | c.*47 others(19): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40083334 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01168.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0017 | a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0084 others(9): Show |
13 | 130 | 0.1000 | 8 | c.*84 others(19): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4555 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40098464 | A | AGGGGGTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0157 a0001c0001t0001g0181 a0001c0001t0001g0185 others(17): Show |
20 | 412 | 0.0485 | 8 | c.453 others(25): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40106517 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02559.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0205 a0001c0001t0002g0299 a0001c0001t0005g0152 others(2): Show |
5 | 61 | 0.0820 | 8 | c.-5- others(21): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40107533 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01175.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0001g0149 others(13): Show |
16 | 69 | 0.2319 | 8 | c.-6+ others(21): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40108219 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01074.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0072 a0001c0001t0001g0073 others(29): Show |
36 | 45 | 0.8000 | 8 | c.-6+ others(19): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGCGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 |
3 | 49 | 0.0612 | 8 | c.148 others(23): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00673.hp1 others(33): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0162 a0001c0001t0001g0163 others(32): Show |
36 | 82 | 0.4390 | 8 | c.148 others(23): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22189433 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03540.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0053 a0001c0001t0001g0187 a0001c0001t0001g0302 others(9): Show |
12 | 27 | 0.4444 | 8 | c.107 others(27): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22165882 | C | CGTGCGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp1 NA20300.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0007t0001g0012 |
3 | 50 | 0.0600 | 8 | c.148 others(23): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22165882 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00673.hp1 others(32): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0150 a0001c0001t0001g0151 others(32): Show |
35 | 82 | 0.4268 | 8 | c.148 others(23): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22189433 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03540.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0173 a0001c0001t0001g0398 a0001c0002t0001g0047 others(8): Show |
11 | 26 | 0.4231 | 8 | c.107 others(27): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78784843 | C | CAAGAAAA others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG02896.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0003a0007c0008t0001 | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0003g0057 others(2): Show |
5 | 202 | 0.0248 | 8 | c.178 others(25): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78786405 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(1): Show |
a0001a0005 | a0001c0012a0005c0004 | a0001c0012t0015a0005c0004t0005a0005c0004t0006 | a0001c0012t0015g0034 a0005c0004t0005g0035 a0005c0004t0005g0039 others(1): Show |
4 | 62 | 0.0645 | 8 | c.178 others(25): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78890404 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02647.hp1 others(5): Show |
a0005 | a0005c0004 | a0005c0004t0005a0005c0004t0016 | a0005c0004t0005g0026 a0005c0004t0005g0028 a0005c0004t0005g0029 others(5): Show |
8 | 149 | 0.0537 | 8 | c.206 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6769612 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp1 others(56): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0033 others(27): Show |
59 | 130 | 0.4538 | 8 | c.-7- others(21): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6769633 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01074.hp2 HG01358.hp2 others(33): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0002a0001c0004t0005a0003c0003t0002others(1): Show | a0001c0001t0002g0021 a0001c0001t0002g0072 a0001c0004t0005g0016 others(7): Show |
36 | 446 | 0.0807 | 8 | c.-7- others(21): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6782313 | A | ATATTTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02155.hp2 HG02486.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0002 | a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0053 others(3): Show |
9 | 185 | 0.0486 | 8 | c.*32 others(19): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 2068 | chr20 | TogoVar | |||||||
BMP2_chr20_6762686_6785246 | 6784487 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0033 others(22): Show |
37 | 168 | 0.2202 | 8 | c.*53 others(19): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 4242 | chr20 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55751778 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0014a0001c0002t0009 | a0001c0001t0009g0221 a0001c0001t0009g0223 a0001c0001t0014g0234 others(2): Show |
5 | 49 | 0.1020 | 8 | c.*37 others(19): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1874 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55836627 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG02965.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0006 | a0001c0002t0001a0001c0002t0006a0001c0008t0001others(1): Show | a0001c0002t0001g0082 a0001c0002t0006g0052 a0001c0008t0001g0007 others(1): Show |
4 | 305 | 0.0131 | 8 | c.491 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55837335 | T | TTAGATAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0227 others(34): Show |
37 | 180 | 0.2056 | 8 | c.491 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55837369 | A | AGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02055.hp1 HG02257.hp1 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0196 a0001c0002t0001g0123 a0001c0002t0001g0132 others(10): Show |
13 | 251 | 0.0518 | 8 | c.491 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55841916 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(38): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(16): Show | a0001c0001t0002g0195 a0001c0001t0002g0219 a0001c0001t0002g0250 others(38): Show |
41 | 202 | 0.2030 | 8 | c.491 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55850390 | A | ATAGATAG others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0027others(2): Show | a0001c0001t0001g0152 a0001c0001t0005g0306 a0001c0001t0005g0309 others(4): Show |
7 | 316 | 0.0222 | 8 | c.490 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7822897 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02080.hp2 HG03130.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0001a0001c0001t0015a0003c0005t0004others(1): Show | a0001c0001t0001g0149 a0001c0001t0015g0201 a0003c0005t0004g0027 others(1): Show |
4 | 162 | 0.0247 | 8 | c.665 others(27): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57176750 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01106.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0034 others(49): Show |
53 | 85 | 0.6235 | 8 | c.959 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 4/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57187554 | C | CCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01928.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0146 a0001c0001t0001g0203 a0001c0001t0002g0077 others(9): Show |
12 | 49 | 0.2449 | 8 | c.761 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57205141 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01167.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0034 others(25): Show |
28 | 102 | 0.2745 | 8 | c.612 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57209249 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02602.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0100 others(6): Show |
9 | 102 | 0.0882 | 8 | c.612 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57269737 | C | CGAATGAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01943.hp1 HG02015.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0002g0190 others(1): Show |
4 | 125 | 0.0320 | 8 | c.-36 others(19): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3097 | chr20 | TogoVar | |||||||
BMP8B_chr1_39752182_39793865 | 39786703 | C | CTTCACAG others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(24): Show |
a0004a0010 | a0004c0006a0004c0012a0010c0017 | a0004c0006t0005a0004c0012t0005a0010c0017t0038 | a0004c0006t0005g0008 a0004c0006t0005g0221 a0004c0006t0005g0222 others(15): Show |
27 | 428 | 0.0631 | 8 | c.334 others(25): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 33905359 | G | GAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG01074.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0225 a0001c0001t0002g0231 a0001c0002t0001g0224 others(5): Show |
8 | 63 | 0.1270 | 8 | c.-25 others(17): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 179 | chr7 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 33919923 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01243.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0135 a0001c0001t0002g0169 a0001c0001t0003g0139 others(17): Show |
20 | 71 | 0.2817 | 8 | c.219 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024384 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 NA18966.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0095 a0001c0001t0002g0021 a0001c0001t0002g0058 others(2): Show |
5 | 28 | 0.1786 | 8 | c.577 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34039603 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01256.hp1 others(5): Show |
a0001a0006 | a0001c0002a0001c0005a0006c0022 | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(2): Show | a0001c0002t0001g0151 a0001c0002t0001g0209 a0001c0002t0001g0224 others(5): Show |
8 | 84 | 0.0952 | 8 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065199 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02055.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0003g0106 others(5): Show |
8 | 175 | 0.0457 | 8 | c.107 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065203 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0008 | a0001c0002t0005g0227 a0001c0002t0008g0061 |
2 | 61 | 0.0328 | 8 | c.107 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34129577 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01257.hp2 HG01496.hp1 others(6): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0028a0001c0003t0001others(4): Show | a0001c0002t0001g0081 a0001c0002t0028g0038 a0001c0003t0001g0005 others(6): Show |
9 | 163 | 0.0552 | 8 | c.174 others(29): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |