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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICC1_chr10_58507872_58836435 | 58607341 | T | TAAATAAA others(21): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0029 | 1 | 132 | 0.0076 | 28 | c.191 others(47): 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(21): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02145.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0002t0003 | a0001c0001t0004g0136a0001c0001t0004g0287a0001c0001t0006g0152others(3): Show | 6 | 290 | 0.0207 | 28 | c.213 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32198323 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | NA18981.hp1 NA18998.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0073a0001c0002t0004g0171 | 2 | 290 | 0.0069 | 28 | c.214 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL2_chr16_3022682_3041944 | 3034658 | C | CTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 390 | 0.0026 | 28 | c.282 others(43): Show |
BICDL2 | ENSG00000162069.16 | transcript | ENST00000572449.6 | protein_coding | 2/9 | chr16 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42814499 | G | GTGTATAT others(21): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 270 | 0.0037 | 28 | c.-6+ others(43): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BIN2_chr12_51276038_51329174 | 51320934 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02886.hp2 HG02895.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0007others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0007t0001others(3): Show | a0001c0001t0001g0289a0001c0001t0001g0293a0001c0001t0001g0294others(12): Show | 15 | 400 | 0.0375 | 28 | c.81+ others(43): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364172 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02300.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | 344 | 0.0058 | 28 | c.112 others(45): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32448652 | T | TGGAGAGG others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0004a0001c0007t0007 | a0001c0007t0004g0017a0001c0007t0004g0018a0001c0007t0004g0019others(3): Show | 6 | 274 | 0.0219 | 28 | c.448 others(45): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 21/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18964.hp2 NA19012.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0037a0001c0003t0003g0125a0001c0003t0003g0128others(1): Show | 4 | 274 | 0.0146 | 28 | c.475 others(47): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461159 | T | TCCCCTCC others(21): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0009 | a0009c0029 | a0009c0029t0002 | a0009c0029t0002g0181 | 1 | 274 | 0.0037 | 28 | c.475 others(47): 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(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0003others(5): Show | a0001c0001t0001g0050a0001c0001t0001g0107a0001c0001t0001g0194others(25): Show | 28 | 274 | 0.1022 | 28 | c.133 others(49): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 66/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234a0001c0001t0003g0251 | 2 | 404 | 0.0050 | 28 | c.103 others(47): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11504367 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02056.hp1 HG02976.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0006a0001c0003t0006others(1): Show | a0001c0001t0001g0219a0001c0002t0006g0218a0001c0003t0006g0112others(4): Show | 8 | 308 | 0.0260 | 28 | c.-2+ others(43): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
BLOC1S1_chr12_55711046_55724703 | 55714720 | A | ATATACAT others(21): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG00735.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(9): Show | 32 | 410 | 0.0781 | 28 | c.-13 others(39): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 1325 | chr12 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 336 | 0.0030 | 28 | c.749 others(45): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100098919 | C | CAGATAGA others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0044 | 1 | 188 | 0.0053 | 28 | c.339 others(43): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40460245 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153a0001c0002t0001g0154a0001c0002t0001g0155others(1): Show | 4 | 362 | 0.0111 | 28 | c.80- others(43): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13327893 | T | TCCACCCA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(305): Show | 311 | 314 | 0.9905 | 28 | c.-13 others(47): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 3/19 | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 310 | 0.0032 | 28 | c.32- others(43): 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(21): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0001 | a0001c0001t0011g0006a0001c0002t0001g0090a0001c0002t0001g0267 | 3 | 291 | 0.0103 | 28 | c.106 others(45): 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(21): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02809.hp2 NA18945.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0042 | a0001c0001t0001g0028a0001c0001t0001g0051a0001c0001t0001g0052others(7): Show | 10 | 414 | 0.0242 | 28 | c.-5- others(41): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0024 | 2 | 418 | 0.0048 | 28 | c.148 others(43): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP1_chr8_22160372_22217326 | 22165882 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0014a0001c0001t0010g0015 | 2 | 408 | 0.0049 | 28 | c.148 others(43): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0218 | 1 | 308 | 0.0033 | 28 | c.665 others(47): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP8B_chr1_39752182_39793865 | 39763386 | C | CCCCTCCC others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(52): Show |
a0001a0007a0011others(1): Show | a0001c0003a0001c0005a0001c0020others(3): Show | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(5): Show | a0001c0003t0004g0190a0001c0003t0008g0003a0001c0003t0008g0198others(25): Show | 55 | 430 | 0.1279 | 28 | c.949 others(43): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34119014 | T | TCACACAC others(21): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0213 | 1 | 232 | 0.0043 | 28 | c.174 others(49): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34119014 | T | TCTCACAC others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01169.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0077a0001c0001t0002g0155a0001c0001t0002g0162others(6): Show | 9 | 232 | 0.0388 | 28 | c.174 others(49): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129594 | G | GAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0218 | 1 | 232 | 0.0043 | 28 | c.174 others(49): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129622 | G | GAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 NA20129.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0004 | a0001c0002t0003g0174a0001c0003t0004g0120 | 2 | 232 | 0.0086 | 28 | c.174 others(49): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129630 | G | GAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01256.hp2 HG01261.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0183a0001c0002t0002g0075a0001c0003t0001g0005others(5): Show | 8 | 232 | 0.0345 | 28 | c.174 others(49): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129630 | G | GAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0010 | a0001c0010t0012 | a0001c0010t0012g0167 | 1 | 232 | 0.0043 | 28 | c.174 others(49): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86751796 | T | TATGTGTG others(21): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0022a0001c0006t0079 | a0001c0002t0022g0265a0001c0002t0022g0266a0001c0002t0022g0267others(1): Show | 4 | 278 | 0.0144 | 28 | c.-53 others(39): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 4822 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86791687 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03491.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0017a0002c0001t0008 | a0001c0002t0017g0117a0002c0001t0008g0054 | 2 | 278 | 0.0072 | 28 | c.-26 others(49): 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(21): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0163 | 1 | 278 | 0.0036 | 28 | c.-26 others(49): 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(21): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0192 | 1 | 278 | 0.0036 | 28 | c.*75 others(39): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(21): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0001 | a0002c0001t0024 | a0002c0001t0024g0228 | 1 | 278 | 0.0036 | 28 | c.*75 others(39): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACATA others(21): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0083 | a0001c0002t0083g0198 | 1 | 278 | 0.0036 | 28 | c.*75 others(39): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94937717 | C | CACACAGA others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0109 | 1 | 226 | 0.0044 | 28 | c.-11 others(49): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94962072 | T | TTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 226 | 0.0044 | 28 | c.-11 others(49): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94981003 | A | ACGCGCGC others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03209.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0008 | a0001c0001t0005g0017a0001c0002t0008g0219a0001c0002t0008g0220 | 3 | 226 | 0.0133 | 28 | c.-11 others(49): 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(21): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 226 | 0.0044 | 28 | c.-18 others(47): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 95026098 | A | ATTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02258.hp2 HG03831.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0048a0001c0001t0001g0081a0001c0001t0001g0088others(4): Show | 7 | 226 | 0.0310 | 28 | c.-18 others(47): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 95116421 | G | GCGCACAC others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0219 | 1 | 226 | 0.0044 | 28 | c.349 others(43): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 95120610 | T | TTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02080.hp1 HG02698.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0002g0117a0001c0001t0002g0119a0001c0001t0002g0218others(4): Show | 7 | 226 | 0.0310 | 28 | c.350 others(45): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202543194 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(35): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(10): Show | a0001c0001t0003g0012a0001c0001t0003g0018a0001c0001t0003g0019others(35): Show | 38 | 224 | 0.1696 | 28 | c.141 others(45): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BNC2_chr9_16404503_16875670 | 16616781 | G | GAGGAGGG others(21): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0166 | 1 | 176 | 0.0057 | 28 | c.331 others(47): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16616790 | G | GGGAAGGA others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01243.hp2 others(7): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002a0001c0001t0003g0103a0001c0001t0004g0005others(7): Show | 10 | 176 | 0.0568 | 28 | c.331 others(47): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16861181 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0002t0029 | a0001c0001t0035g0067a0001c0002t0029g0175 | 2 | 176 | 0.0114 | 28 | c.3+9 others(41): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13573442 | G | GTCTATCT others(21): Show |
intron_variant | MODIFIER | HG02683.hp2 NA19062.hp1 |
a0001a0020 | a0001c0001a0020c0026 | a0001c0001t0001a0020c0026t0001 | a0001c0001t0001g0210a0020c0026t0001g0095 | 2 | 258 | 0.0078 | 28 | c.903 others(47): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241558052 | G | GAAACAGA others(21): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00621.hp2 others(39): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0034a0001c0001t0001g0112a0001c0001t0002g0003others(29): Show | 42 | 434 | 0.0968 | 28 | c.-97 others(37): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 692 | chr2 | TogoVar |