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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BDP1_chr5_71450651_71572820 | 71506758 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0022 | a0022c0031 | a0022c0031t0016 | a0022c0031t0016g0011 | 1 | 66 | 0.0152 | 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 | 287 | 0.0035 | 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 | 296 | 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 | a0001c0001t0001g0178 a0001c0001t0001g0267 a0001c0001t0001g0268 |
3 | 266 | 0.0113 | 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 | 32 | 0.0313 | 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 | 32 | 0.0313 | 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 | 131 | 0.0076 | 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 | 364 | 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 | 400 | 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 | 306 | 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 | a0001c0005t0004g0277 | 1 | 372 | 0.0027 | 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 | a0001c0001t0001g0074 a0001c0001t0001g0222 |
2 | 69 | 0.0290 | 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 | 339 | 0.0029 | 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 | 17 | 0.0588 | 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 | a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0107 others(14): Show |
17 | 38 | 0.4474 | 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 | a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0148 others(13): Show |
16 | 206 | 0.0777 | 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 | a0001c0002t0001g0068 | 1 | 288 | 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 | a0002c0009t0008g0298 | 1 | 310 | 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 | a0001c0001t0001g0281 | 1 | 184 | 0.0054 | 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 | a0001c0001t0011g0297 | 1 | 384 | 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 | a0001c0001t0001g0099 | 1 | 305 | 0.0033 | 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 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 270 | 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 | a0001c0001t0001a0001c0005t0001a0001c0044t0001 | a0001c0001t0001g0192 a0001c0001t0001g0231 a0001c0001t0001g0236 others(4): Show |
7 | 195 | 0.0359 | 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 | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(7): Show | a0001c0001t0001g0101 a0001c0001t0001g0186 a0001c0001t0001g0202 others(22): Show |
25 | 128 | 0.1953 | 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 | a0001c0006t0001 | a0001c0006t0001g0009 a0001c0006t0001g0010 |
2 | 266 | 0.0075 | 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 | 54 | 0.0185 | 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 | a0002c0002t0003g0191 a0002c0002t0003g0192 |
2 | 262 | 0.0076 | 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 | a0001c0001t0002g0009 a0001c0001t0009g0123 |
2 | 357 | 0.0056 | 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 | 72 | 0.0139 | 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 | a0001c0001t0001g0089 | 1 | 171 | 0.0058 | 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 | a0001c0001t0001g0091 | 1 | 102 | 0.0098 | 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 | 320 | 0.0031 | 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 | a0001c0001t0001g0076 a0001c0001t0001g0127 a0001c0001t0001g0135 others(2): Show |
5 | 75 | 0.0667 | 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 | a0001c0001t0001g0135 | 1 | 128 | 0.0078 | 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 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 17 | 0.0588 | 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 | a0001c0002t0001g0079 | 1 | 290 | 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 | a0001c0001t0003g0146 | 1 | 15 | 0.0667 | 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 | a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0002g0048 |
3 | 59 | 0.0508 | 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 | a0001c0001t0007g0020 a0001c0001t0007g0126 |
2 | 270 | 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 | 44 | 0.0227 | 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 | 109 | 0.0092 | 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 | a0001c0003t0014g0005 a0002c0001t0071g0174 |
2 | 167 | 0.0120 | 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 | a0001c0002t0003g0049 a0001c0002t0003g0062 a0001c0002t0003g0066 others(78): Show |
81 | 246 | 0.3293 | 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 | a0001c0002t0023g0001 a0001c0002t0040g0037 |
2 | 127 | 0.0157 | 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 | a0001c0002t0003g0062 | 1 | 177 | 0.0056 | 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 | 121 | 0.0083 | 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 | a0001c0002t0007g0024 a0001c0002t0007g0026 a0001c0002t0025g0030 |
3 | 123 | 0.0244 | 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 | a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 others(20): Show |
23 | 224 | 0.1027 | 32 | c.-18 others(53): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94937717 | C | CACACACA others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02630.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(6): Show | a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0002g0221 others(9): Show |
12 | 160 | 0.0750 | 32 | c.-11 others(53): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95026098 | A | ATTTCTTT others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 84 | 0.0119 | 32 | c.-18 others(51): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |