view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AUTS2_chr7_69593475_70798506 | 70010876 | TAGAAATT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0009a0001c0003t0027a0002c0002t0031 | a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 others(1): Show |
4 | 76 | 0.0526 | -9 | c.523 others(30): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70117108 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01884.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0001g0073 others(9): Show |
12 | 76 | 0.1579 | -9 | c.523 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70585867 | TATATGTA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01081.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 others(24): Show |
27 | 76 | 0.3553 | -9 | c.691 others(30): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70609956 | TTTTTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0032 a0001c0001t0004g0048 a0001c0001t0004g0056 others(3): Show |
6 | 66 | 0.0909 | -9 | c.691 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70609959 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01081.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0044 others(22): Show |
25 | 47 | 0.5319 | -9 | c.691 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70739003 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 others(23): Show |
26 | 29 | 0.8966 | -9 | c.743 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70784742 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG01243.hp1 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0052 others(22): Show |
25 | 40 | 0.6250 | -9 | c.214 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70796445 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02630.hp2 HG03540.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0016a0001c0003t0008others(2): Show | a0001c0001t0001g0044 a0001c0001t0016g0003 a0001c0003t0008g0069 others(2): Show |
5 | 6 | 0.8333 | -9 | c.*54 others(20): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2940 | chr7 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33899460 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01515.hp1 HG01515.hp2 others(7): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0003c0003t0003others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(7): Show |
10 | 15 | 0.6667 | -9 | c.446 others(28): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34004316 | CACAATGT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02717.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0008 | a0001c0001t0001a0004c0004t0001a0004c0008t0001 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(4): Show |
7 | 264 | 0.0265 | -9 | c.268 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34029517 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(45): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 others(45): Show |
48 | 71 | 0.6761 | -9 | c.267 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG02615.hp2 HG02630.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0019others(6): Show | a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0023 others(11): Show |
14 | 15 | 0.9333 | -9 | c.94- others(24): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678922 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01928.hp1 HG02040.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0141 |
5 | 415 | 0.0120 | -9 | c.287 others(24): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179449988 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp1 HG02145.hp1 others(12): Show |
a0001a0002 | a0001c0002a0001c0011a0002c0001 | a0001c0002t0001a0001c0011t0001a0002c0001t0001 | a0001c0002t0001g0100 a0001c0002t0001g0127 a0001c0002t0001g0152 others(12): Show |
15 | 69 | 0.2174 | -9 | c.179 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179459704 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(103): Show |
a0001a0002a0006others(6): Show | a0001c0002a0001c0007a0001c0011others(9): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(9): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(103): Show |
106 | 354 | 0.2994 | -9 | c.179 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179482098 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(164): Show |
a0001a0002a0005others(5): Show | a0001c0002a0001c0006a0001c0007others(13): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(13): Show | a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 others(163): Show |
167 | 180 | 0.9278 | -9 | c.199 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488632 | CTCCTTTC others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01257.hp1 HG01361.hp1 others(13): Show |
a0001a0002a0011others(2): Show | a0001c0002a0002c0001a0011c0014others(2): Show | a0001c0002t0001a0002c0001t0001a0011c0014t0001others(2): Show | a0001c0002t0001g0089 a0001c0002t0001g0110 a0001c0002t0001g0114 others(13): Show |
16 | 292 | 0.0548 | -9 | c.209 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179513824 | CTTCTAGG others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG01496.hp1 others(10): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0296 a0004c0005t0001g0297 a0004c0005t0001g0298 others(10): Show |
13 | 354 | 0.0367 | -9 | c.249 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 282903 | TCCCCTGC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0028a0001c0001t0031others(12): Show | a0001c0001t0001g0333 a0001c0001t0001g0354 a0001c0001t0001g0359 others(22): Show |
26 | 367 | 0.0708 | -9 | c.*52 others(20): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 4536 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65551300 | TAAAGGGA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(396): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0003a0001c0004others(26): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(52): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0017 others(309): Show |
399 | 400 | 0.9975 | -9 | c.816 others(26): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65555538 | TTACTAAT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03516.hp2 NA19240.hp1 |
a0001a0007 | a0001c0003a0007c0015 | a0001c0003t0001a0007c0015t0011 | a0001c0003t0001g0245 a0007c0015t0011g0209 a0007c0015t0011g0210 |
3 | 400 | 0.0075 | -9 | c.815 others(26): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833243 | GATAATAA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01358.hp1 HG02027.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0002t0001g0002 others(3): Show |
14 | 323 | 0.0433 | -9 | c.*13 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1226 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833272 | TAATAATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01952.hp2 HG02109.hp1 HG02897.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 others(3): Show |
8 | 317 | 0.0252 | -9 | c.*13 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1255 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833275 | TAATAAGA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01891.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0002c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0002t0001g0002 others(4): Show |
11 | 263 | 0.0418 | -9 | c.*13 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1258 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | TAAGAAGA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0002t0001g0003 others(7): Show |
20 | 158 | 0.1266 | -9 | c.*14 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833312 | AAGAAGAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 HG03486.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0051 a0001c0009t0001g0004 |
3 | 390 | 0.0077 | -9 | c.*14 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1295 | chr19 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474972 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01257.hp1 HG01358.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0021others(2): Show | a0001c0001t0004g0205 a0001c0001t0004g0235 a0001c0001t0004g0241 others(5): Show |
8 | 328 | 0.0244 | -9 | c.652 others(26): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474974 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02897.hp1 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0005a0002c0003t0056 | a0001c0001t0004g0231 a0002c0003t0005g0216 a0002c0003t0005g0223 others(1): Show |
4 | 332 | 0.0120 | -9 | c.652 others(26): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG02300.hp2 HG02976.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0001g0129 others(7): Show |
10 | 20 | 0.5000 | -9 | c.556 others(24): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01106.hp2 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0008others(9): Show | a0001c0002t0003g0303 a0001c0002t0006g0300 a0001c0002t0006g0304 others(29): Show |
34 | 58 | 0.5862 | -9 | c.113 others(26): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167325702 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02040.hp1 NA18612.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0001g0015 a0001c0001t0004g0013 a0001c0001t0004g0014 others(2): Show |
5 | 34 | 0.1471 | -9 | c.-51 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167352271 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0062 others(42): Show |
45 | 116 | 0.3879 | -9 | c.-51 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167389908 | CCAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079 a0001c0001t0002g0018 |
2 | 116 | 0.0172 | -9 | c.-51 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167497247 | GCAACGGT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0029 a0001c0001t0003g0112 a0001c0001t0006g0040 others(5): Show |
8 | 116 | 0.0690 | -9 | c.-41 others(28): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT6_chr1_1227237_1240041 | 1231710 | CCCCCGGG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(60): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0018others(9): Show | a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0002t0018g0000 others(9): Show |
63 | 364 | 0.1731 | -9 | c.-56 others(18): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 526 | chr1 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83045894 | AGAGATCG others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02451.hp2 others(9): Show |
a0001a0003a0004 | a0001c0011a0001c0029a0003c0030others(1): Show | a0001c0011t0001a0001c0011t0010a0001c0011t0011others(6): Show | a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 others(9): Show |
12 | 266 | 0.0451 | -9 | c.232 others(26): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33111270 | AAAAAAAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01099.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0032a0001c0001t0047others(2): Show | a0001c0001t0003g0001 a0001c0001t0003g0015 a0001c0001t0003g0046 others(31): Show |
36 | 364 | 0.0989 | -9 | c.*21 others(20): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 6/6 | 2175 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33152361 | TAACATAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00733.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0314 a0001c0001t0003g0001 a0001c0001t0003g0298 others(37): Show |
43 | 363 | 0.1185 | -9 | c.412 others(28): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43979336 | CGCGGCGG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00642.hp1 others(42): Show |
a0002a0006 | a0002c0002a0002c0003a0006c0007 | a0002c0002t0003a0002c0003t0003a0006c0007t0003 | a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0028 others(16): Show |
45 | 391 | 0.1151 | -9 | c.-20 others(18): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 1/7 | 1797 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
B4GALT5_chr20_49627945_49718878 | 49665440 | GTAATAAT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00621.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0002g0031 a0001c0001t0002g0065 a0001c0001t0004g0186 others(25): Show |
28 | 214 | 0.1308 | -9 | c.116 others(26): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31629447 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01496.hp2 HG01884.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0003g0155 a0001c0001t0008g0042 a0001c0001t0008g0218 others(12): Show |
15 | 66 | 0.2273 | -9 | c.776 others(26): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/8 | chr18 | TogoVar | |||||||
BAALC_chr8_103135725_103235305 | 103139868 | TGAAGGCT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0009 a0001c0001t0002g0034 a0001c0001t0006g0033 |
4 | 330 | 0.0121 | -9 | c.-10 others(20): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 856 | chr8 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28205434 | TAGAGGTC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0053 others(11): Show |
14 | 156 | 0.0897 | -9 | c.681 others(28): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28231785 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0056 a0001c0001t0001g0133 a0001c0001t0001g0134 others(5): Show |
8 | 14 | 0.5714 | -9 | c.681 others(26): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89978633 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02647.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0017a0001c0002t0004a0001c0004t0004others(3): Show | a0001c0001t0017g0035 a0001c0001t0017g0085 a0001c0002t0004g0081 others(5): Show |
8 | 147 | 0.0544 | -9 | c.244 others(28): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90009149 | TTTAAAAC others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01081.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(7): Show | a0001c0001t0001g0141 a0001c0001t0008g0103 a0001c0001t0013g0049 others(7): Show |
10 | 192 | 0.0521 | -9 | c.-12 others(24): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90102791 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01109.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(13): Show | a0001c0001t0001g0101 a0001c0001t0001g0139 a0001c0001t0001g0141 others(16): Show |
19 | 78 | 0.2436 | -9 | c.-16 others(30): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201867 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01433.hp2 HG01516.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0022a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0167 a0001c0001t0001g0168 others(4): Show |
7 | 297 | 0.0236 | -9 | c.379 others(26): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201869 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0180 others(3): Show |
7 | 292 | 0.0240 | -9 | c.379 others(26): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201871 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02273.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0219 a0001c0001t0003g0140 a0001c0001t0003g0187 |
3 | 299 | 0.0100 | -9 | c.379 others(26): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar |