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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLM_chr15_90712346_90821166 | 90773095 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201a0001c0001t0001g0226 | 2 | 280 | 0.0071 | -10 | c.255 others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90789987 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01192.hp1 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0066a0001c0001t0002g0135a0001c0002t0001g0001others(33): Show | 37 | 280 | 0.1321 | -10 | c.282 others(27): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90799626 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0002a0001c0017a0002c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0011others(42): Show | 46 | 280 | 0.1643 | -10 | c.335 others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90814559 | CCTTCCTG others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01516.hp2 HG06807.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0211a0003c0003t0003g0215a0003c0003t0003g0248 | 3 | 280 | 0.0107 | -10 | c.407 others(27): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLNK_chr10_96184171_96276569 | 96228086 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0007 | a0001c0007t0026 | a0001c0007t0026g0036 | 1 | 322 | 0.0031 | -10 | c.205 others(25): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 4/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96246280 | CAGTGGCT others(3): Show |
C | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0256 | 1 | 322 | 0.0031 | -10 | c.113 others(25): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 2/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96273760 | GTTTTTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02300.hp2 HG02451.hp1 HG02622.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(15): Show | 18 | 322 | 0.0559 | -10 | c.-23 others(21): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 2192 | chr10 | TogoVar | ||||||
BLOC1S3_chr19_45173784_45186800 | 45184903 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | -10 | c.*49 others(21): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 3104 | chr19 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(130): Show | 143 | 364 | 0.3929 | -10 | c.196 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8064056 | GCGGGGAA others(3): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG02717.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0206a0001c0001t0005g0203a0001c0001t0005g0204others(1): Show | 4 | 364 | 0.0110 | -10 | c.112 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
BLOC1S6_chr15_45582379_45614708 | 45610177 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(12): Show | 48 | 362 | 0.1326 | -10 | c.*36 others(21): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 470 | chr15 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122170305 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG02004.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056a0001c0002t0001g0084a0001c0002t0001g0085others(4): Show | 7 | 336 | 0.0208 | -10 | c.-33 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 2/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122321979 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 | 1 | 336 | 0.0030 | -10 | c.109 others(31): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34846077 | TCCCTCCC others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp1 HG03139.hp1 others(1): Show |
a0008 | a0008c0009 | a0008c0009t0014 | a0008c0009t0014g0167a0008c0009t0014g0168a0008c0009t0014g0169others(1): Show | 4 | 312 | 0.0128 | -10 | c.103 others(29): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100048765 | AGAGTGAG others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0085 | 2 | 188 | 0.0106 | -10 | c.371 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100048771 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0003 | 1 | 188 | 0.0053 | -10 | c.371 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100084378 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01433.hp1 others(18): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0003a0011c0011others(1): Show | a0001c0001t0001a0002c0003t0001a0011c0011t0001others(1): Show | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0101others(18): Show | 21 | 188 | 0.1117 | -10 | c.128 others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 10/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100092289 | CATTCTGT others(3): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0046 | 1 | 188 | 0.0053 | -10 | c.841 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 7/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100104884 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 188 | 0.0053 | -10 | c.208 others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100109159 | CCTCTCTC others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02559.hp2 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0005others(2): Show | a0001c0001t0001a0002c0003t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0072a0001c0001t0001g0121a0001c0001t0001g0122others(4): Show | 7 | 188 | 0.0372 | -10 | c.45- others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100118388 | TCAAAACA others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02809.hp1 HG03098.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0178a0005c0006t0001g0179a0005c0006t0001g0180others(2): Show | 5 | 188 | 0.0266 | -10 | c.45- others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp1 others(18): Show |
a0001a0002a0018others(1): Show | a0001c0001a0001c0009a0002c0003others(3): Show | a0001c0001t0001a0001c0009t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0117a0001c0001t0001g0161a0001c0009t0001g0131others(18): Show | 21 | 188 | 0.1117 | -10 | c.45- others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100130972 | AGAGAGGG others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02109.hp2 others(20): Show |
a0001a0002a0016others(2): Show | a0001c0001a0002c0003a0002c0010others(3): Show | a0001c0001t0001a0002c0003t0001a0002c0010t0001others(3): Show | a0001c0001t0001g0098a0001c0001t0001g0101a0001c0001t0001g0102others(20): Show | 23 | 188 | 0.1223 | -10 | c.44+ others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40448608 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG03486.hp2 NA18954.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0227 | 3 | 362 | 0.0083 | -10 | c.464 others(25): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40459327 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 362 | 0.0028 | -10 | c.80- others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40460972 | CAAACAAA others(3): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG02109.hp1 HG02145.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0068others(19): Show | 26 | 362 | 0.0718 | -10 | c.80- others(25): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BLZF1_chr1_169363195_169393305 | 169375393 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03098.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0133 | 3 | 366 | 0.0082 | -10 | c.29- others(25): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284108 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0015others(5): Show | 8 | 314 | 0.0255 | -10 | c.-26 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284154 | ATATATGT others(3): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 314 | 0.0032 | -10 | c.-26 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284230 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01081.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0026others(40): Show | 44 | 314 | 0.1401 | -10 | c.-26 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284232 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(32): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0036a0001c0001t0001g0149a0001c0001t0001g0156others(32): Show | 35 | 314 | 0.1115 | -10 | c.-26 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13323489 | ATGAGGTC others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(139): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(137): Show | 142 | 314 | 0.4522 | -10 | c.-18 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13363127 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 314 | 0.0032 | -10 | 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 | 27335202 | CTTTGTTT others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp2 others(70): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0029a0001c0001t0001g0031others(69): Show | 73 | 310 | 0.2355 | -10 | c.31+ others(25): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27352573 | GCAGTCAG others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(287): Show | 300 | 310 | 0.9677 | -10 | c.32- others(27): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15512012 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0285 | 1 | 291 | 0.0034 | -10 | c.107 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15517750 | TTGTGTGG others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0026a0001c0001t0003g0027a0001c0001t0010g0025others(1): Show | 4 | 291 | 0.0138 | -10 | c.230 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15517982 | GATGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 291 | 0.0034 | -10 | c.230 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15591594 | AACACACA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0040 | 1 | 291 | 0.0034 | -10 | c.*47 others(21): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40083334 | AGTGTGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0018a0001c0001t0021others(3): Show | a0001c0001t0001g0133a0001c0001t0001g0348a0001c0001t0001g0365others(9): Show | 12 | 414 | 0.0290 | -10 | c.*84 others(21): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4555 | chr15 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40106543 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0365 | 3 | 414 | 0.0073 | -10 | c.-5- others(23): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40107533 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 414 | 0.0024 | -10 | c.-6+ others(23): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40113709 | GTGCAAGC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 NA18983.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0335a0001c0005t0001g0341 | 2 | 414 | 0.0048 | -10 | c.-50 others(21): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4831 | chr15 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78786405 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03139.hp2 HG03471.hp2 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0008a0003c0005t0009 | a0003c0005t0008g0129a0003c0005t0008g0130a0003c0005t0008g0132others(3): Show | 6 | 204 | 0.0294 | -10 | c.178 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78801344 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(50): Show |
a0001a0002a0014 | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0006a0001c0012t0015a0002c0002t0002others(3): Show | a0001c0001t0006g0043a0001c0001t0006g0044a0001c0012t0015g0032others(50): Show | 53 | 204 | 0.2598 | -10 | 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 | 78823494 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0161 | 1 | 204 | 0.0049 | -10 | c.179 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78823560 | TTATATAG others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0024 | a0001c0024t0022 | a0001c0024t0022g0148 | 1 | 204 | 0.0049 | -10 | c.179 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78829753 | ATCTTTTC others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02080.hp1 HG02630.hp1 others(6): Show |
a0001a0002a0006 | a0001c0006a0002c0002a0006c0021 | a0001c0006t0004a0002c0002t0002a0006c0021t0006 | a0001c0006t0004g0153a0001c0006t0004g0201a0002c0002t0002g0039others(6): Show | 9 | 204 | 0.0441 | -10 | c.297 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78829782 | TTTCTTTT others(3): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA18963.hp1 NA18998.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0073a0002c0002t0002g0186a0002c0002t0002g0188 | 3 | 204 | 0.0147 | -10 | c.297 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78829787 | TTTCTCTT others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02723.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0006a0005c0004t0005a0005c0004t0016 | a0001c0001t0006g0034a0005c0004t0005g0026a0005c0004t0005g0028others(4): Show | 7 | 204 | 0.0343 | -10 | c.297 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |