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 | 100135281 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18987.hp2 NA19000.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0031 a0003c0002t0001g0034 a0003c0002t0001g0037 |
3 | 188 | 0.0160 | 12 | c.44+ others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100140717 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 188 | 0.0053 | 12 | c.44+ others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0047 | 1 | 188 | 0.0053 | 12 | c.44+ others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAAAATA others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 |
a0010a0017 | a0010c0013a0017c0030 | a0010c0013t0001a0017c0030t0001 | a0010c0013t0001g0003 a0017c0030t0001g0002 |
2 | 188 | 0.0106 | 12 | c.44+ others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40448597 | C | CAACAACA others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18986.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0177 a0001c0003t0001g0126 |
2 | 362 | 0.0055 | 12 | c.464 others(27): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40448608 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA18963.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 a0001c0001t0001g0213 |
2 | 362 | 0.0055 | 12 | c.464 others(27): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40450842 | G | GTATCTAT others(5): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 362 | 0.0028 | 12 | c.463 others(27): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40457657 | T | TATAAATA others(5): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 362 | 0.0028 | 12 | c.334 others(27): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40460245 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02738.hp2 NA18959.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0163 a0001c0001t0002g0184 a0001c0002t0001g0129 others(3): Show |
6 | 362 | 0.0166 | 12 | c.80- others(27): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
BLZF1_chr1_169363195_169393305 | 169375393 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01515.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0002g0012 a0001c0001t0002g0089 |
8 | 366 | 0.0219 | 12 | c.29- others(27): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13288394 | T | TCTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0067 |
2 | 314 | 0.0064 | 12 | c.-26 others(33): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13290559 | A | ATGTTATT others(5): Show |
intron_variant | MODIFIER | HG02723.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0193 a0001c0001t0002g0007 |
2 | 314 | 0.0064 | 12 | c.-26 others(33): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13314229 | C | CCACACAC others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01257.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0026 others(13): Show |
17 | 314 | 0.0541 | 12 | c.-19 others(31): 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(5): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01175.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 others(6): Show |
9 | 314 | 0.0287 | 12 | c.-18 others(29): 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(5): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18939.hp1 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 |
3 | 314 | 0.0096 | 12 | c.-13 others(33): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13363127 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 314 | 0.0032 | 12 | c.460 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13365282 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 314 | 0.0032 | 12 | c.460 others(27): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27420019 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02896.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0261 a0001c0001t0017g0155 a0001c0001t0017g0212 |
3 | 310 | 0.0097 | 12 | c.177 others(29): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27420019 | G | GCGCGCGC others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03239.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0029 | a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0234 others(2): Show |
5 | 310 | 0.0161 | 12 | c.177 others(29): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0117 a0001c0001t0001g0122 others(11): Show |
14 | 291 | 0.0481 | 12 | c.106 others(29): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15452323 | G | GGAGGGAG others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(209): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(209): Show |
212 | 291 | 0.7285 | 12 | c.106 others(31): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15517747 | T | TGTGGGTG others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | 291 | 0.0206 | 12 | c.230 others(29): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15519074 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18969.hp1 NA20300.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0257 a0001c0001t0003g0254 a0001c0001t0005g0289 others(1): Show |
4 | 291 | 0.0138 | 12 | c.230 others(29): 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(5): Show |
intron_variant | MODIFIER | HG02886.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0005 a0001c0002t0001g0030 |
2 | 291 | 0.0069 | 12 | c.230 others(31): 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(5): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG02129.hp1 HG02735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0135 a0001c0001t0001g0137 others(3): Show |
6 | 291 | 0.0206 | 12 | c.*47 others(23): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40083334 | A | AGTGTGTG others(5): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG04199.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0299 a0001c0001t0002g0377 a0001c0001t0007g0066 |
3 | 414 | 0.0073 | 12 | c.*84 others(23): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4555 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40103574 | A | AAGCGCCC others(5): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 414 | 0.0024 | 12 | c.453 others(27): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40106517 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG01361.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0178 a0001c0001t0001g0253 a0001c0001t0001g0256 others(8): Show |
11 | 414 | 0.0266 | 12 | c.-5- others(25): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40107533 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0113 | 1 | 414 | 0.0024 | 12 | c.-6+ others(25): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40108219 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03704.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0033 a0001c0001t0003g0032 a0001c0001t0003g0034 others(1): Show |
4 | 414 | 0.0097 | 12 | c.-6+ others(23): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGCGTG others(5): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 418 | 0.0024 | 12 | c.148 others(27): 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(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG00738.hp2 others(37): Show |
a0001a0006a0012 | a0001c0001a0001c0002a0006c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0006c0010t0001others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(37): Show |
40 | 418 | 0.0957 | 12 | c.148 others(27): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22183591 | A | AATTATTA others(5): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0040 | 1 | 418 | 0.0024 | 12 | c.107 others(31): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22189433 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0150 a0001c0001t0001g0291 a0001c0002t0001g0185 others(4): Show |
7 | 418 | 0.0168 | 12 | c.107 others(31): 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(5): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0008 | 1 | 408 | 0.0025 | 12 | c.148 others(27): 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(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG00738.hp2 others(28): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(28): Show |
31 | 408 | 0.0760 | 12 | c.148 others(27): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22183591 | A | AATTATTA others(5): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0016 | a0016c0018 | a0016c0018t0001 | a0016c0018t0001g0034 | 1 | 408 | 0.0025 | 12 | c.107 others(31): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22189433 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02895.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0010 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0135 a0001c0001t0001g0281 a0001c0002t0001g0171 others(4): Show |
7 | 408 | 0.0172 | 12 | c.107 others(31): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22210466 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00621.hp1 others(28): Show |
a0001a0002a0014 | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(5): Show | a0001c0001t0001g0379 a0001c0003t0001g0069 a0001c0003t0001g0145 others(28): Show |
31 | 408 | 0.0760 | 12 | c.282 others(29): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22210468 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 408 | 0.0025 | 12 | c.282 others(29): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22210468 | T | TCTCACAC others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01081.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0036others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0036t0001others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0054 others(18): Show |
21 | 408 | 0.0515 | 12 | c.282 others(29): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22210468 | T | TCTCTCAC others(5): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01258.hp1 HG01884.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0200 a0001c0001t0001g0286 a0001c0001t0002g0144 others(1): Show |
4 | 408 | 0.0098 | 12 | c.282 others(29): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78772054 | G | GACACACA others(5): Show |
upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 204 | 0.0049 | 12 | c.-44 others(23): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 4295 | chr4 | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78786405 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0005 | a0005c0004 | a0005c0004t0005 | a0005c0004t0005g0028 | 1 | 204 | 0.0049 | 12 | c.178 others(29): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829777 | T | TTTCTCTT others(5): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 204 | 0.0049 | 12 | c.297 others(29): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829782 | T | TTTCTCTT others(5): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 204 | 0.0049 | 12 | c.297 others(29): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829783 | T | TTCTTTTC others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 a0001c0001t0003g0056 |
2 | 204 | 0.0098 | 12 | c.297 others(29): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTCTT others(5): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01952.hp1 HG02698.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0003a0001c0001t0018a0004c0003t0001 | a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0018g0010 others(1): Show |
4 | 204 | 0.0196 | 12 | c.297 others(29): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78872303 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0008 | a0008c0014 | a0008c0014t0024 | a0008c0014t0024g0110 | 1 | 204 | 0.0049 | 12 | c.160 others(29): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6769612 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp2 others(16): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0124 a0001c0001t0001g0125 others(4): Show |
19 | 464 | 0.0410 | 12 | c.-7- others(25): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |