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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BDH1_chr3_197504783_197560968 | 197549975 | T | TTATTTTT others(25): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0147 | a0001c0001t0004g0022a0001c0001t0147g0039 | 2 | 319 | 0.0063 | 32 | c.-43 others(49): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96216720 | A | AAGGAGGA others(25): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0286 | 1 | 436 | 0.0023 | 32 | c.-40 others(51): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71506758 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0039 | a0039c0031 | a0039c0031t0016 | a0039c0031t0016g0010 | 1 | 325 | 0.0031 | 32 | c.237 others(51): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66474544 | A | AAGAGGGA others(25): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 298 | 0.0034 | 32 | c.290 others(49): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66474562 | G | GAGGGAGA others(25): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 298 | 0.0034 | 32 | c.290 others(49): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66474569 | A | AGAGGGAG others(25): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01981.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0267a0001c0001t0001g0268 | 3 | 298 | 0.0101 | 32 | c.290 others(49): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66474618 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 298 | 0.0034 | 32 | c.290 others(49): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66474618 | A | AAGGGAGG others(25): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 298 | 0.0034 | 32 | c.290 others(49): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTTTT others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0210 | 1 | 366 | 0.0027 | 32 | c.482 others(49): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69699993 | A | AGACTCTG others(25): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 366 | 0.0027 | 32 | c.-80 others(41): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 691 | chr12 | TogoVar | ||||||
BET1L_chr11_197924_212399 | 207947 | G | GAAACTAA others(25): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 402 | 0.0025 | 32 | c.-62 others(41): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 549 | chr11 | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103315575 | T | TAACATCA others(25): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 308 | 0.0033 | 32 | c.-47 others(43): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 4586 | chrX | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17529090 | T | TGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0278 | 1 | 396 | 0.0025 | 32 | c.377 others(49): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449982 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0212 | 2 | 276 | 0.0073 | 32 | c.730 others(47): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHMT_chr5_79106809_79137288 | 79136989 | T | TACATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 432 | 0.0023 | 32 | c.*58 others(43): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4702 | chr5 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TAATATAT others(25): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0102 | 1 | 132 | 0.0076 | 32 | c.191 others(51): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58607317 | A | AAAATAAA others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00741.hp1 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0001t0001g0107others(14): Show | 17 | 132 | 0.1288 | 32 | c.191 others(51): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32142468 | A | ATCTATCT others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0003g0085a0001c0001t0003g0087a0001c0001t0003g0147others(13): Show | 16 | 290 | 0.0552 | 32 | c.213 others(51): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32384639 | T | TTCTTCTT others(25): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 290 | 0.0035 | 32 | c.*70 others(43): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1007 | chr12 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47605831 | C | CTTTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0009 | a0002c0009t0008 | a0002c0009t0008g0296 | 1 | 312 | 0.0032 | 32 | c.-34 others(43): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 3302 | chr19 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51320934 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 400 | 0.0025 | 32 | c.81+ others(47): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22673506 | A | AGTCACCG others(25): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0310 | 1 | 386 | 0.0026 | 32 | c.-44 others(43): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 4386 | chr8 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364172 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 344 | 0.0029 | 32 | c.112 others(49): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32397628 | A | ATGTATAT others(25): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0163 | 1 | 274 | 0.0037 | 32 | c.103 others(51): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461147 | C | CCTCCCCT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0044 | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(1): Show | a0001c0001t0001g0193a0001c0001t0001g0205a0001c0001t0001g0236others(4): Show | 7 | 274 | 0.0256 | 32 | c.475 others(51): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32578979 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02083.hp2 HG02109.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0013others(7): Show | a0001c0001t0001a0001c0003t0003a0001c0013t0003others(7): Show | a0001c0001t0001g0100a0001c0001t0001g0186a0001c0001t0001g0199others(22): Show | 25 | 274 | 0.0912 | 32 | c.133 others(53): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 66/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32611108 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01943.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0006a0001c0006t0003g0007 | 2 | 274 | 0.0073 | 32 | c.142 others(51): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 72/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 404 | 0.0025 | 32 | c.103 others(51): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BLOC1S2_chr10_100268293_100291680 | 100276317 | G | GTCTCCCT others(25): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01978.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0214a0002c0002t0003g0215 | 2 | 378 | 0.0053 | 32 | c.398 others(47): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276375 | G | GTCTCCCT others(25): Show |
intron_variant | MODIFIER | HG00544.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0137a0001c0001t0009g0127 | 2 | 378 | 0.0053 | 32 | c.398 others(47): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 336 | 0.0030 | 32 | c.749 others(49): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100140727 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 188 | 0.0053 | 32 | c.44+ others(47): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAATATA others(25): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 188 | 0.0053 | 32 | c.44+ others(47): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40460245 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 362 | 0.0028 | 32 | c.80- others(47): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40460247 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02148.hp1 HG02258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0076a0001c0001t0001g0127a0001c0001t0001g0135others(2): Show | 5 | 362 | 0.0138 | 32 | c.80- others(47): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13288394 | T | TCTTTCTT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 314 | 0.0032 | 32 | c.-26 others(53): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 310 | 0.0032 | 32 | c.32- others(47): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15434497 | A | AGGCGCTC others(25): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 291 | 0.0034 | 32 | c.-15 others(41): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 90 | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 291 | 0.0034 | 32 | c.106 others(49): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMF_chr15_40082890_40113879 | 40106517 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18973.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0047a0001c0001t0001g0072a0001c0001t0002g0048 | 3 | 414 | 0.0073 | 32 | c.-5- others(45): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57192254 | C | CTATAGTA others(25): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020a0001c0001t0007g0126 | 2 | 272 | 0.0074 | 32 | c.761 others(49): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3/6 | chr20 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34119014 | T | TCTCACAC others(25): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 232 | 0.0043 | 32 | c.174 others(53): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129618 | G | GAGAAAGA others(25): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0098 | 1 | 232 | 0.0043 | 32 | c.174 others(53): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86791687 | T | TCCTTCCT others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03225.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0014a0002c0001t0071 | a0001c0003t0014g0005a0002c0001t0071g0171 | 2 | 278 | 0.0072 | 32 | c.-26 others(53): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86791687 | T | TCCTTCCT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(78): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0017others(23): Show | a0001c0002t0003g0048a0001c0002t0003g0065a0001c0002t0003g0068others(78): Show | 81 | 278 | 0.2914 | 32 | c.-26 others(53): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86791711 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02258.hp2 |
a0001 | a0001c0002 | a0001c0002t0023a0001c0002t0040 | a0001c0002t0023g0002a0001c0002t0040g0038 | 2 | 278 | 0.0072 | 32 | c.-26 others(53): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86824105 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0065 | 1 | 278 | 0.0036 | 32 | c.-26 others(53): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(25): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0007 | 1 | 278 | 0.0036 | 32 | c.*75 others(43): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0025 | a0001c0002t0007g0026a0001c0002t0007g0027a0001c0002t0025g0030 | 3 | 278 | 0.0108 | 32 | c.*75 others(43): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94831235 | A | AAACAACA others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0001t0001g0088others(20): Show | 23 | 226 | 0.1018 | 32 | c.-18 others(53): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |