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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BFSP2_chr3_133395056_133480208 | 133424216 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 276 | 0.0036 | 19 | c.490 others(38): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449964 | A | AAGGAAAG others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG02735.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0006 | a0001c0001t0001a0002c0003t0001a0005c0006t0001 | a0001c0001t0001g0013a0001c0001t0001g0068a0002c0003t0001g0220others(1): Show | 4 | 276 | 0.0145 | 19 | c.730 others(34): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1269086 | T | TGGGCAAG others(12): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 442 | 0.0045 | 19 | c.-14 others(30): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 1357 | chr17 | TogoVar | ||||||
BHLHE23_chr20_63000927_63011964 | 63010609 | G | GAGTTCTC others(12): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | 19 | c.-38 others(30): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 3646 | chr20 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 | 1 | 132 | 0.0076 | 19 | c.191 others(38): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32135068 | T | TCCCCTTC others(12): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 290 | 0.0035 | 19 | c.213 others(38): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32384640 | T | TCTTCTTC others(12): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG03225.hp2 NA18968.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0002 | a0001c0001t0006g0157a0001c0001t0009g0086a0001c0002t0002g0282 | 3 | 290 | 0.0103 | 19 | c.*70 others(30): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1008 | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0128 | 1 | 270 | 0.0037 | 19 | c.225 others(36): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0036 | 1 | 270 | 0.0037 | 19 | c.225 others(36): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BIN2_chr12_51276038_51329174 | 51320934 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0240 | 1 | 400 | 0.0025 | 19 | c.81+ others(34): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32444031 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0021 | 1 | 274 | 0.0037 | 19 | c.433 others(36): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 20/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0102 | 1 | 274 | 0.0037 | 19 | c.475 others(38): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0158 | 1 | 274 | 0.0037 | 19 | c.475 others(38): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0156 | 1 | 274 | 0.0037 | 19 | c.475 others(38): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 NA19063.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0089a0001c0001t0003g0208a0001c0001t0003g0211 | 3 | 404 | 0.0074 | 19 | c.103 others(38): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BLCAP_chr20_37512417_37532876 | 37526541 | A | ACGCGTGG others(12): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0049 | 2 | 404 | 0.0050 | 19 | c.-17 others(38): Show |
BLCAP | ENSG00000166619.15 | transcript | ENST00000373537.7 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
BLID_chr11_122110340_122121215 | 122112091 | A | AAAACAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 434 | 0.0023 | 19 | c.*35 others(30): Show |
BLID | ENSG00000259571.2 | transcript | ENST00000560104.2 | protein_coding | 3248 | chr11 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11562906 | G | GGGGTAGG others(12): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0027 | 1 | 308 | 0.0033 | 19 | c.118 others(34): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLOC1S2_chr10_100268293_100291680 | 100276489 | C | CTCTCCCT others(12): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 378 | 0.0027 | 19 | c.398 others(35): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S3_chr19_45173784_45186800 | 45180235 | A | ATTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 3 | 426 | 0.0070 | 19 | c.*33 others(28): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 2/2 | 355 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02132.hp1 HG03471.hp1 others(1): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0006c0014others(1): Show | a0001c0001t0001a0001c0003t0006a0006c0014t0001others(1): Show | a0001c0001t0001g0123a0001c0003t0006g0196a0006c0014t0001g0117others(1): Show | 4 | 336 | 0.0119 | 19 | c.749 others(36): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122321979 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01515.hp1 others(6): Show |
a0001a0019 | a0001c0001a0001c0003a0019c0045 | a0001c0001t0001a0001c0003t0001a0019c0045t0001 | a0001c0001t0001g0216a0001c0001t0001g0255a0001c0001t0001g0258others(6): Show | 9 | 336 | 0.0268 | 19 | c.109 others(40): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 188 | 0.0053 | 19 | c.45- others(36): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13288394 | T | TTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0304a0001c0001t0001g0305a0001c0001t0003g0306 | 3 | 314 | 0.0096 | 19 | c.-26 others(40): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13291805 | G | GTACTCTG others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(283): Show | 288 | 314 | 0.9172 | 19 | c.-26 others(40): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01361.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0198others(2): Show | 5 | 310 | 0.0161 | 19 | c.32- others(34): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27360813 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0218 | 1 | 310 | 0.0032 | 19 | c.32- others(34): 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(12): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02015.hp1 HG02071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0059a0001c0001t0001g0263a0001c0001t0002g0199others(1): Show | 4 | 291 | 0.0138 | 19 | c.106 others(36): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMP10_chr2_68855909_68876397 | 68869232 | G | GAAGCAGT others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0020a0001c0002t0013g0041 | 4 | 416 | 0.0096 | 19 | c.334 others(36): Show |
BMP10 | ENSG00000163217.2 | transcript | ENST00000295379.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
BMP10_chr2_68855909_68876397 | 68869234 | A | AGCAGTGC others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(340): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0013others(60): Show | 343 | 416 | 0.8245 | 19 | c.334 others(36): Show |
BMP10 | ENSG00000163217.2 | transcript | ENST00000295379.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18980.hp2 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0024a0003c0005t0004g0286 | 2 | 308 | 0.0065 | 19 | c.665 others(38): 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(12): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02486.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0173a0001c0001t0003g0062a0001c0001t0013g0305others(2): Show | 5 | 308 | 0.0162 | 19 | c.665 others(38): 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(12): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001a0008 | a0001c0001a0008c0016 | a0001c0001t0001a0008c0016t0001 | a0001c0001t0001g0170a0008c0016t0001g0101 | 2 | 308 | 0.0065 | 19 | c.665 others(38): 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(12): Show |
intron_variant | MODIFIER | HG01175.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0180 | 2 | 308 | 0.0065 | 19 | c.665 others(38): 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(12): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 308 | 0.0033 | 19 | c.665 others(38): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7856595 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01069.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0041a0001c0001t0001g0083a0001c0001t0001g0119others(34): Show | 37 | 308 | 0.1201 | 19 | c.858 others(36): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34024357 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 232 | 0.0043 | 19 | c.577 others(38): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86799507 | T | TTCCTTCC others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0039 | a0001c0002t0006g0011a0001c0002t0039g0013 | 2 | 278 | 0.0072 | 19 | c.-26 others(40): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86883549 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0038 | 1 | 278 | 0.0036 | 19 | c.68- others(34): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0166 | 1 | 224 | 0.0045 | 19 | c.76+ others(34): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0222 | 1 | 224 | 0.0045 | 19 | c.76+ others(34): 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(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02683.hp1 HG03704.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0025a0001c0002t0002g0076a0001c0002t0002g0222 | 3 | 224 | 0.0134 | 19 | c.77- others(36): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 224 | 0.0045 | 19 | c.77- others(36): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202485545 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0020others(1): Show | a0001c0001t0001g0170a0001c0001t0001g0186a0001c0001t0001g0187others(4): Show | 7 | 224 | 0.0313 | 19 | c.418 others(38): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMT2_chr7_112814147_112944875 | 112847778 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0035a0001c0002t0008g0002a0001c0002t0008g0034others(2): Show | 6 | 206 | 0.0291 | 19 | c.474 others(38): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16677578 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0006 | a0006c0018 | a0006c0018t0058 | a0006c0018t0058g0058 | 1 | 176 | 0.0057 | 19 | c.330 others(38): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16811237 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03486.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0035 | a0001c0001t0008g0014a0001c0001t0008g0174a0001c0001t0035g0067 | 3 | 176 | 0.0171 | 19 | c.3+5 others(34): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113260677 | C | CAGAACAG others(12): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0376 | 1 | 386 | 0.0026 | 19 | c.377 others(36): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113260687 | C | CAGAACAG others(12): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0044 | 1 | 386 | 0.0026 | 19 | c.377 others(36): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113260697 | C | CAGAACAG others(12): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0013 | a0001c0013t0044 | a0001c0013t0044g0200 | 1 | 386 | 0.0026 | 19 | c.377 others(36): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |