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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS9_chr7_33124564_33611069 | 33294339 | ATCTATCT others(13): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227a0001c0001t0001g0229 | 2 | 268 | 0.0075 | -20 | c.101 others(41): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33366523 | TTTTTTTT others(13): Show |
T | intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0015 | 1 | 268 | 0.0037 | -20 | c.169 others(39): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33542790 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | NA18951.hp1 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0046 | 1 | 268 | 0.0037 | -20 | c.252 others(39): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33565781 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(19): Show |
a0001a0002a0010 | a0001c0001a0001c0021a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0083a0001c0001t0001g0114a0001c0001t0001g0124others(19): Show | 22 | 268 | 0.0821 | -20 | c.252 others(41): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107638780 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 HG03579.hp1 |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0032a0003c0003t0033a0005c0006t0048 | a0003c0003t0032g0016a0003c0003t0033g0005a0005c0006t0048g0004 | 3 | 222 | 0.0135 | -20 | c.-83 others(37): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107740367 | CTCAGCTC others(13): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 222 | 0.0045 | -20 | c.670 others(37): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107769169 | CATAGATA others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01169.hp1 HG01257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0017others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0075a0001c0001t0003g0082others(13): Show | 16 | 222 | 0.0721 | -20 | c.907 others(37): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107612391 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(115): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(102): Show | 118 | 398 | 0.2965 | -20 | c.590 others(35): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60676637 | TTATGTAT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0071a0001c0002t0002g0064 | 2 | 74 | 0.0270 | -20 | c.-12 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1213 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60676677 | GTATGTAT others(13): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0052 | 1 | 74 | 0.0135 | -20 | c.-12 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1173 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60676681 | GTATCTAT others(13): Show |
G | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0043 | 1 | 74 | 0.0135 | -20 | c.-12 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1169 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60754680 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 74 | 0.0135 | -20 | c.403 others(37): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61070366 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02451.hp1 others(12): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0002c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(2): Show | a0001c0002t0001g0059a0001c0002t0001g0061a0001c0002t0001g0063others(12): Show | 15 | 74 | 0.2027 | -20 | c.203 others(39): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24829019 | GTAAATAA others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(214): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(91): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(214): Show | 217 | 322 | 0.6739 | -20 | c.111 others(37): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80197934 | TCATCCAT others(13): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0100a0001c0001t0009g0101a0001c0001t0009g0102 | 3 | 294 | 0.0102 | -20 | c.743 others(37): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCL11A_chr2_60452194_60558654 | 60507241 | AGGGAGGG others(13): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01168.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0002g0097a0001c0001t0002g0101a0001c0001t0005g0227others(12): Show | 16 | 262 | 0.0611 | -20 | c.386 others(39): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507301 | GGGGAGGG others(13): Show |
G | intron_variant | MODIFIER | HG03942.hp2 NA18990.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0125a0001c0002t0001g0027 | 2 | 262 | 0.0076 | -20 | c.386 others(39): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60538737 | CTCTGTGT others(13): Show |
C | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0176 | 1 | 262 | 0.0038 | -20 | c.385 others(37): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99199684 | GCGCGCGC others(13): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0235a0001c0001t0002g0051a0001c0001t0002g0052others(5): Show | 8 | 350 | 0.0229 | -20 | c.641 others(39): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99243918 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0071 | a0001c0001t0027g0230a0001c0001t0071g0187 | 2 | 350 | 0.0057 | -20 | c.428 others(39): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
BCL2L11_chr2_111115914_111173444 | 111147346 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0067 | 1 | 398 | 0.0025 | -20 | c.395 others(37): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L11_chr2_111115914_111173444 | 111163114 | TGTCTGTG others(13): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 398 | 0.0025 | -20 | c.499 others(36): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17680522 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0304 | 1 | 306 | 0.0033 | -20 | c.122 others(37): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715122 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG02135.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0036a0001c0001t0010g0219 | 2 | 306 | 0.0065 | -20 | c.601 others(39): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715152 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01978.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010 | a0001c0001t0002g0112a0001c0001t0008g0222a0001c0001t0010g0238 | 3 | 306 | 0.0098 | -20 | c.601 others(39): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715160 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0061a0001c0002t0014g0063 | 2 | 306 | 0.0065 | -20 | c.601 others(39): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L1_chr20_31659458_31727868 | 31663117 | CACATATA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(9): Show | 13 | 186 | 0.0699 | -20 | c.*28 others(31): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 1340 | chr20 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63281666 | CAGAAAGA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00735.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0103a0001c0001t0001g0119a0001c0001t0001g0143others(28): Show | 31 | 264 | 0.1174 | -20 | c.585 others(39): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44764155 | GAAGGAAG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01891.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0116a0001c0001t0003g0027others(12): Show | 17 | 344 | 0.0494 | -20 | c.*45 others(31): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4112 | chr19 | TogoVar | ||||||
BCL6_chr3_187716381_187750468 | 187725402 | ACTTGCCT others(13): Show |
A | intron_variant | MODIFIER | NA18964.hp2 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084a0001c0001t0002g0091 | 2 | 404 | 0.0050 | -20 | c.183 others(35): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 8/9 | chr3 | TogoVar | ||||||
BCL7A_chr12_122016884_122067044 | 122034190 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0003 | 1 | 362 | 0.0028 | -20 | c.175 others(37): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCLAF3_chrX_19907860_19996061 | 19995592 | TGAAAGAA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0105 | 1 | 207 | 0.0048 | -20 | c.-47 others(31): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4532 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995648 | AGAAAGAA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA18990.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0192a0001c0001t0011g0104 | 2 | 207 | 0.0097 | -20 | c.-47 others(31): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4588 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995660 | AGAAAGGA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 207 | 0.0048 | -20 | c.-48 others(31): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4600 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995664 | AGGAGGGA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0092 | 1 | 207 | 0.0048 | -20 | c.-48 others(31): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4604 | chrX | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81235181 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG02080.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0002t0001a0003c0003t0001 | a0001c0001t0001g0256a0001c0001t0001g0307a0001c0002t0001g0071others(2): Show | 5 | 402 | 0.0124 | -20 | c.-37 others(31): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3507 | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81235210 | ATATATAT others(13): Show |
A | upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 402 | 0.0025 | -20 | c.-36 others(31): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3478 | chr16 | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046530 | ATAAATAT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG02040.hp1 HG02257.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0001 | a0001c0001t0001g0005a0001c0001t0001g0059a0001c0001t0001g0119others(4): Show | 9 | 257 | 0.0350 | -20 | c.*55 others(31): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4720 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046556 | ATATATAT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | 257 | 0.0078 | -20 | c.*55 others(31): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4694 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40080815 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 257 | 0.0039 | -20 | c.-40 others(37): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23180572 | GCGGCGGC others(13): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0217 | a0001c0002t0217g0139 | 1 | 296 | 0.0034 | -20 | c.-37 others(29): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/23 | 357 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
BCR_chr22_23175509_23323037 | 23258267 | GGCTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0159 | a0001c0001t0159g0287 | 1 | 296 | 0.0034 | -20 | c.146 others(39): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71451104 | TACACACA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG03540.hp1 others(1): Show |
a0002a0005a0017 | a0002c0002a0005c0005a0017c0017 | a0002c0002t0001a0005c0005t0001a0017c0017t0009 | a0002c0002t0001g0203a0005c0005t0001g0299a0017c0017t0009g0115others(1): Show | 4 | 325 | 0.0123 | -20 | c.-47 others(31): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 4546 | chr5 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66445475 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00609.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0020others(61): Show | 70 | 298 | 0.2349 | -20 | c.25+ others(35): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BECN2_chr1_241952767_241964062 | 241957039 | CTGTGTGT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01891.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0000a0002c0002t0000 | a0001c0001t0000g0000a0002c0002t0000g0000 | 2 | 444 | 0.0045 | -20 | c.-72 others(29): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 727 | chr1 | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18224006 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0002g0236 | 2 | 295 | 0.0068 | -20 | c.-32 others(31): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 3121 | chrX | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(13): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG03942.hp1 NA18964.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0003g0069a0001c0001t0004g0317a0001c0001t0011g0349others(6): Show | 9 | 368 | 0.0245 | -20 | c.241 others(37): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 HG03834.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0004 | a0001c0002t0001g0290a0001c0003t0004g0005 | 3 | 368 | 0.0082 | -20 | c.241 others(37): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073245 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0012a0001c0004t0021 | a0001c0001t0008g0004a0001c0001t0012g0096a0001c0004t0021g0040 | 4 | 368 | 0.0109 | -20 | c.241 others(37): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107094621 | CATAAATA others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02896.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001 | a0001c0001t0013g0195a0001c0001t0013g0199a0001c0002t0001g0164 | 3 | 368 | 0.0082 | -20 | c.240 others(37): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar |