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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLK_chr8_11489387_11569599 | 11512654 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(77): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0124others(76): Show | 80 | 308 | 0.2597 | 8 | c.-2+ others(25): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11535261 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01106.hp1 HG01123.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0145a0001c0001t0001g0162a0001c0001t0001g0170others(46): Show | 52 | 308 | 0.1688 | 8 | c.-1- others(23): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90735236 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02630.hp2 HG02886.hp1 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(6): Show | 9 | 280 | 0.0321 | 8 | c.-4- others(25): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLNK_chr10_96184171_96276569 | 96201738 | G | GCATTCAT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01175.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0015a0001c0001t0027others(4): Show | a0001c0001t0008g0168a0001c0001t0015g0062a0001c0001t0015g0136others(8): Show | 11 | 322 | 0.0342 | 8 | c.935 others(23): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 13/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96229654 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01069.hp2 others(43): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0070others(40): Show | 46 | 322 | 0.1429 | 8 | c.204 others(25): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 4/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96265119 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(109): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0072others(106): Show | 112 | 322 | 0.3478 | 8 | c.47+ others(23): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar | ||||||
BLOC1S1_chr12_55711046_55724703 | 55718492 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03139.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021a0001c0001t0002g0020 | 4 | 410 | 0.0098 | 8 | c.219 others(23): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BLOC1S2_chr10_100268293_100291680 | 100281711 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01261.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0005a0002c0002t0003others(1): Show | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(9): Show | 17 | 378 | 0.0450 | 8 | c.173 others(23): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
BLOC1S3_chr19_45173784_45186800 | 45177191 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG02809.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0016 | a0001c0001t0001g0001a0001c0001t0012g0001a0001c0001t0016g0001 | 3 | 426 | 0.0070 | 8 | c.-16 others(19): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1592 | chr19 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8017385 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02615.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0204a0001c0001t0005g0205a0001c0001t0018g0147 | 3 | 364 | 0.0082 | 8 | c.385 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8041312 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01981.hp1 HG02293.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0032a0001c0001t0002g0106a0001c0001t0002g0249others(3): Show | 6 | 364 | 0.0165 | 8 | c.196 others(21): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0127a0001c0001t0005g0018a0001c0001t0005g0280others(2): Show | 6 | 364 | 0.0165 | 8 | c.196 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009a0001c0001t0004g0026a0001c0001t0004g0136others(2): Show | 6 | 364 | 0.0165 | 8 | c.196 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLOC1S6_chr15_45582379_45614708 | 45601867 | G | GTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02080.hp2 HG02132.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0107 | 11 | 362 | 0.0304 | 8 | c.225 others(25): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122180039 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0005a0001c0019 | a0001c0005t0001a0001c0019t0001 | a0001c0005t0001g0105a0001c0005t0001g0106a0001c0005t0001g0107others(4): Show | 8 | 336 | 0.0238 | 8 | c.358 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 6/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122200583 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG01255.hp2 others(12): Show |
a0001a0008 | a0001c0002a0001c0005a0001c0008others(3): Show | a0001c0002t0001a0001c0005t0002a0001c0008t0001others(3): Show | a0001c0002t0001g0014a0001c0002t0001g0019a0001c0002t0001g0023others(12): Show | 15 | 336 | 0.0446 | 8 | c.138 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 14/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122205785 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02109.hp2 NA18942.hp1 others(4): Show |
a0001a0002a0012others(1): Show | a0001c0005a0002c0004a0012c0042others(1): Show | a0001c0005t0001a0002c0004t0001a0012c0042t0001others(1): Show | a0001c0005t0001g0140a0002c0004t0001g0127a0002c0004t0001g0137others(4): Show | 7 | 336 | 0.0208 | 8 | c.149 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 15/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122216079 | T | TTGTCTGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325a0001c0001t0001g0326a0001c0001t0001g0331 | 3 | 336 | 0.0089 | 8 | c.224 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122216085 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02132.hp2 NA18981.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0027others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0027t0001others(1): Show | a0001c0002t0001g0024a0001c0003t0001g0275a0001c0027t0001g0072others(1): Show | 4 | 336 | 0.0119 | 8 | c.224 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122216085 | G | GTCTGTCT others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02622.hp2 NA21309.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0003c0006t0001 | a0001c0001t0001g0306a0001c0001t0004g0175a0003c0006t0001g0040 | 3 | 336 | 0.0089 | 8 | c.224 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122262148 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(36): Show |
a0001a0003a0009others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(7): Show | a0001c0001t0001g0121a0001c0001t0001g0145a0001c0001t0001g0159others(36): Show | 39 | 336 | 0.1161 | 8 | c.676 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 42/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG02895.hp2 others(3): Show |
a0003a0009 | a0003c0006a0009c0011 | a0003c0006t0001a0009c0011t0001 | a0003c0006t0001g0009a0003c0006t0001g0010a0003c0006t0001g0013others(3): Show | 6 | 336 | 0.0179 | 8 | c.749 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122313861 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03471.hp2 NA18906.hp1 |
a0008a0017 | a0008c0018a0017c0035 | a0008c0018t0001a0017c0035t0001 | a0008c0018t0001g0114a0008c0018t0001g0115a0017c0035t0001g0142 | 3 | 336 | 0.0089 | 8 | c.103 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 60/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34798594 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(70): Show |
a0002a0004a0007others(3): Show | a0002c0002a0002c0032a0004c0004others(6): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0037others(19): Show | a0002c0002t0002g0047a0002c0002t0002g0048a0002c0002t0002g0049others(70): Show | 73 | 312 | 0.2340 | 8 | c.44+ others(23): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34815241 | G | GTGTTTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01069.hp1 others(38): Show |
a0004a0008a0017 | a0004c0004a0004c0014a0004c0015others(3): Show | a0004c0004t0005a0004c0004t0010a0004c0004t0011others(12): Show | a0004c0004t0005g0006a0004c0004t0005g0007a0004c0004t0005g0008others(38): Show | 41 | 312 | 0.1314 | 8 | c.45- others(23): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100048771 | A | AGAGTGAG others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03579.hp1 |
a0001a0015 | a0001c0025a0015c0024 | a0001c0025t0001a0015c0024t0001 | a0001c0025t0001g0092a0015c0024t0001g0187 | 2 | 188 | 0.0106 | 8 | c.371 others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100048771 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0105 | 2 | 188 | 0.0106 | 8 | c.371 others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100098919 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02056.hp2 HG03486.hp1 others(3): Show |
a0001a0009a0012 | a0001c0001a0009c0021a0012c0028 | a0001c0001t0001a0009c0021t0001a0012c0028t0001 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(3): Show | 6 | 188 | 0.0319 | 8 | c.339 others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100104193 | G | GTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01255.hp2 others(15): Show |
a0001a0003 | a0001c0025a0003c0002 | a0001c0025t0001a0003c0002t0001 | a0001c0025t0001g0092a0003c0002t0001g0030a0003c0002t0001g0031others(15): Show | 18 | 188 | 0.0957 | 8 | c.208 others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG01081.hp2 others(9): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0002a0005c0006others(2): Show | a0001c0001t0001a0003c0002t0001a0005c0006t0001others(2): Show | a0001c0001t0001g0057a0001c0001t0001g0085a0001c0001t0001g0099others(9): Show | 12 | 188 | 0.0638 | 8 | c.45- others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100124974 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02717.hp1 others(2): Show |
a0001a0022 | a0001c0001a0022c0014 | a0001c0001t0001a0022c0014t0001 | a0001c0001t0001g0098a0001c0001t0001g0100a0001c0001t0001g0102others(2): Show | 5 | 188 | 0.0266 | 8 | c.45- others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100130982 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01074.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0015 | a0001c0001t0001a0006c0015t0001 | a0001c0001t0001g0111a0001c0001t0001g0119a0001c0001t0001g0123others(6): Show | 9 | 188 | 0.0479 | 8 | c.44+ others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLVRA_chr7_43753680_43812342 | 43789876 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036a0001c0002t0001g0304 | 3 | 414 | 0.0073 | 8 | c.135 others(25): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BLVRB_chr19_40442768_40470745 | 40448607 | A | AATAACAA others(1): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03654.hp1 NA18969.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0163a0001c0002t0001g0180a0001c0002t0001g0183 | 3 | 362 | 0.0083 | 8 | c.464 others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40448608 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0332others(1): Show | 4 | 362 | 0.0111 | 8 | c.464 others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40450842 | G | GTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01081.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041a0001c0001t0001g0106a0001c0001t0001g0138others(12): Show | 15 | 362 | 0.0414 | 8 | c.463 others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40457657 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02615.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0077a0001c0001t0001g0115others(12): Show | 18 | 362 | 0.0497 | 8 | c.334 others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
BLZF1_chr1_169363195_169393305 | 169375393 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0026a0001c0001t0001g0049a0001c0001t0002g0008others(5): Show | 19 | 366 | 0.0519 | 8 | c.29- others(23): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13288394 | T | TCTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01099.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0026others(16): Show | 21 | 314 | 0.0669 | 8 | c.-26 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13314229 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0035others(8): Show | 11 | 314 | 0.0350 | 8 | c.-19 others(27): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13325657 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(121): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(120): Show | 124 | 314 | 0.3949 | 8 | c.-18 others(25): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13339430 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(118): Show | 123 | 314 | 0.3917 | 8 | c.-13 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13365282 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01433.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0042a0001c0001t0001g0058others(9): Show | 12 | 314 | 0.0382 | 8 | c.460 others(23): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27335814 | A | AAGGGGAG others(1): Show |
intron_variant | MODIFIER | NA18981.hp2 NA18989.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0002g0030a0001c0001t0002g0259 | 3 | 310 | 0.0097 | 8 | c.31+ others(23): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27420019 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00639.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(74): Show | 81 | 310 | 0.2613 | 8 | c.177 others(25): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15452323 | G | GGAGGGAG others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02015.hp2 HG02074.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0059others(6): Show | 9 | 291 | 0.0309 | 8 | c.106 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15452335 | A | AGAGGGAG others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG02257.hp1 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0117a0001c0001t0001g0122a0001c0001t0001g0223others(20): Show | 23 | 291 | 0.0790 | 8 | c.106 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15512012 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02015.hp1 NA18970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0059a0001c0001t0001g0136a0001c0001t0001g0233others(3): Show | 6 | 291 | 0.0206 | 8 | c.107 others(25): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15519074 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0059a0001c0001t0001g0067a0001c0001t0001g0110others(57): Show | 60 | 291 | 0.2062 | 8 | c.230 others(25): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15529015 | G | GTGTTTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(16): Show | 19 | 291 | 0.0653 | 8 | c.230 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |