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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02148.hp1 HG02451.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0024 others(3): Show |
6 | 176 | 0.0341 | 8 | c.287 others(23): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138014 | C | CCTCCCTC others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0055 | a0001c0001t0008g0042 a0001c0001t0008g0071 a0001c0001t0055g0088 |
3 | 443 | 0.0068 | 8 | c.*93 others(19): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4744 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138059 | C | CTCCCTCC others(1): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 NA18969.hp2 NA18995.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0038 | a0001c0002t0001g0001 a0001c0002t0038g0107 |
5 | 219 | 0.0228 | 8 | c.*92 others(19): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63153316 | G | GTCTATCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(96): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0011 others(30): Show |
99 | 224 | 0.4420 | 8 | c.-24 others(19): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2116 | chr12 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206118721 | A | AAAACAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG01361.hp1 HG01943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0002g0002 |
4 | 240 | 0.0167 | 8 | c.-18 others(19): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 1334 | chr1 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 NA18945.hp1 NA18962.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0005a0003c0009t0082 | a0001c0001t0001g0001 a0001c0001t0005g0003 a0003c0009t0082g0118 |
4 | 114 | 0.0351 | 8 | c.-51 others(19): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179414411 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(116): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0006a0001c0007others(9): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(9): Show | a0001c0002t0001g0152 a0001c0002t0001g0206 a0001c0002t0001g0226 others(115): Show |
119 | 197 | 0.6041 | 8 | c.123 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179421035 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02080.hp1 NA18942.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0056 a0001c0003t0001g0066 a0001c0003t0001g0067 others(1): Show |
4 | 47 | 0.0851 | 8 | c.123 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179460233 | C | CACCCTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(12): Show |
a0003a0008a0009others(1): Show | a0003c0004a0008c0012a0009c0013others(1): Show | a0003c0004t0001a0008c0012t0001a0009c0013t0001others(1): Show | a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 others(12): Show |
15 | 354 | 0.0424 | 8 | c.179 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAAAAAC others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02622.hp2 HG02630.hp1 others(7): Show |
a0001a0003a0020 | a0001c0002a0003c0004a0020c0030 | a0001c0002t0001a0003c0004t0001a0020c0030t0001 | a0001c0002t0001g0140 a0001c0002t0001g0160 a0001c0002t0001g0161 others(7): Show |
10 | 139 | 0.0719 | 8 | c.209 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488634 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01169.hp1 NA18942.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0066 |
3 | 170 | 0.0176 | 8 | c.209 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488634 | C | CTTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG01358.hp2 others(5): Show |
a0003a0009 | a0003c0004a0009c0013 | a0003c0004t0001a0009c0013t0001 | a0003c0004t0001g0007 a0003c0004t0001g0023 a0003c0004t0001g0027 others(5): Show |
8 | 175 | 0.0457 | 8 | c.209 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | chr1 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179500337 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01109.hp1 others(8): Show |
a0001a0008 | a0001c0002a0001c0003a0001c0015others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0015t0001others(1): Show | a0001c0002t0001g0140 a0001c0002t0001g0159 a0001c0003t0001g0064 others(8): Show |
11 | 117 | 0.0940 | 8 | c.238 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179511393 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02572.hp2 HG02895.hp2 others(4): Show |
a0001a0012 | a0001c0002a0001c0007a0012c0017 | a0001c0002t0001a0001c0007t0001a0012c0017t0001 | a0001c0002t0001g0089 a0001c0002t0001g0143 a0001c0007t0001g0182 others(4): Show |
7 | 91 | 0.0769 | 8 | c.249 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179525808 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(17): Show |
a0001a0014 | a0001c0003a0001c0006a0014c0029 | a0001c0003t0001a0001c0006t0001a0014c0029t0001 | a0001c0003t0001g0066 a0001c0003t0001g0209 a0001c0003t0001g0265 others(17): Show |
20 | 259 | 0.0772 | 8 | c.261 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179532898 | G | GAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02258.hp2 HG02280.hp2 others(1): Show |
a0001a0004a0009 | a0001c0002a0001c0007a0004c0005others(1): Show | a0001c0002t0001a0001c0007t0001a0004c0005t0001others(1): Show | a0001c0002t0001g0226 a0001c0007t0001g0185 a0004c0005t0001g0302 others(1): Show |
4 | 82 | 0.0488 | 8 | c.271 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 323776 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 NA19030.hp2 |
a0001a0005 | a0001c0003a0001c0007a0005c0015 | a0001c0003t0041a0001c0007t0008a0005c0015t0008 | a0001c0003t0041g0046 a0001c0007t0008g0075 a0005c0015t0008g0281 |
3 | 223 | 0.0135 | 8 | c.879 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 351132 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01192.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0002a0001c0003t0011a0003c0008t0007others(2): Show | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 others(4): Show |
7 | 265 | 0.0264 | 8 | c.-82 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65564088 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(12): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0001a0001c0004t0003a0001c0005t0001others(3): Show | a0001c0002t0001g0017 a0001c0002t0001g0056 a0001c0004t0003g0294 others(11): Show |
15 | 124 | 0.1210 | 8 | c.-27 others(19): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41256080 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0047a0001c0003t0009 | a0001c0001t0006g0125 a0001c0001t0047g0272 a0001c0003t0009g0007 others(2): Show |
6 | 232 | 0.0259 | 8 | c.203 others(25): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02735.hp2 HG03471.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0029a0001c0002t0029 | a0001c0001t0017g0026 a0001c0001t0017g0037 a0001c0001t0017g0059 others(5): Show |
8 | 55 | 0.1455 | 8 | c.*41 others(17): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(75): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(21): Show |
78 | 95 | 0.8211 | 8 | c.338 others(23): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
AZI2_chr3_28316047_28353824 | 28352126 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG01515.hp1 HG01517.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show |
12 | 125 | 0.0960 | 8 | c.-35 others(19): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 3303 | chr3 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 829936 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02897.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0003t0001g0006 a0001c0003t0001g0020 others(3): Show |
8 | 153 | 0.0523 | 8 | c.360 others(23): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01069.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0024 others(28): Show |
32 | 56 | 0.5714 | 8 | c.113 others(25): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167288538 | G | GACACACA others(1): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 NA18948.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0030 | a0001c0001t0001g0015 a0001c0001t0015g0017 a0001c0001t0030g0016 |
3 | 41 | 0.0732 | 8 | c.-53 others(19): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4462 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167303682 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18948.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0030 | a0001c0001t0001g0015 a0001c0001t0015g0017 a0001c0001t0030g0016 |
3 | 28 | 0.1071 | 8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167390792 | C | CTGAATGA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0028others(1): Show | a0001c0001t0009g0034 a0001c0001t0010g0075 a0001c0001t0028g0072 others(1): Show |
4 | 45 | 0.0889 | 8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167400166 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01169.hp1 HG01169.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0023 others(21): Show |
24 | 41 | 0.5854 | 8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167492877 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19240.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0018 | a0001c0001t0002g0094 a0001c0001t0013g0056 a0001c0001t0018g0093 |
3 | 33 | 0.0909 | 8 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167512558 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0042 | a0001c0001t0018g0060 a0001c0001t0042g0045 |
2 | 111 | 0.0180 | 8 | c.-41 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167547693 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0002g0049 others(12): Show |
15 | 77 | 0.1948 | 8 | c.-41 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167548685 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01346.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0098 others(20): Show |
23 | 55 | 0.4182 | 8 | c.-41 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167579432 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(2): Show | a0001c0001t0001g0015 a0001c0001t0002g0073 a0001c0001t0030g0016 others(2): Show |
5 | 27 | 0.1852 | 8 | c.-40 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167625942 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0105 a0001c0001t0011g0092 |
2 | 33 | 0.0606 | 8 | c.-40 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167740098 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | NA19068.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0113 a0001c0001t0003g0112 |
2 | 84 | 0.0238 | 8 | c.-35 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167776040 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0011 a0001c0001t0003g0002 a0001c0001t0005g0012 others(1): Show |
4 | 22 | 0.1818 | 8 | c.-35 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167863990 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18968.hp1 NA18968.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0003t0041 | a0001c0001t0003g0028 a0001c0001t0004g0014 a0001c0001t0004g0064 others(2): Show |
5 | 47 | 0.1064 | 8 | c.-22 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCCCCC others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp2 others(83): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(14): Show |
86 | 219 | 0.3927 | 8 | c.-12 others(19): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39623233 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01071.hp2 HG01081.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0182 others(20): Show |
25 | 254 | 0.0984 | 8 | c.-39 others(29): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39623237 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG01192.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(5): Show | a0001c0001t0001g0177 a0001c0001t0005g0195 a0001c0001t0013g0172 others(6): Show |
9 | 157 | 0.0573 | 8 | c.-39 others(29): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639288 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0063 others(15): Show |
18 | 281 | 0.0641 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18960.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0038 | a0001c0001t0001g0081 a0001c0001t0002g0181 a0002c0002t0038g0249 |
3 | 226 | 0.0133 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG01123.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0162 a0001c0001t0002g0205 a0001c0001t0007g0204 others(10): Show |
13 | 236 | 0.0551 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTCTTT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 HG04199.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0061 a0001c0001t0002g0290 a0001c0001t0005g0016 others(4): Show |
7 | 181 | 0.0387 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02818.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0263 a0001c0001t0007g0281 |
3 | 177 | 0.0169 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG02132.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0058others(7): Show | a0001c0001t0001g0196 a0001c0001t0001g0248 a0001c0001t0007g0134 others(9): Show |
12 | 186 | 0.0645 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639484 | T | TTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01099.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0009a0001c0001t0012a0001c0001t0017others(11): Show | a0001c0001t0009g0087 a0001c0001t0012g0253 a0001c0001t0017g0052 others(16): Show |
19 | 333 | 0.0571 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39670211 | C | CTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01106.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0032a0001c0001t0059a0001c0001t0072others(5): Show | a0001c0001t0032g0019 a0001c0001t0032g0275 a0001c0001t0059g0198 others(9): Show |
13 | 249 | 0.0522 | 8 | c.*87 others(19): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 8745 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GAT1_chr11_134373508_134417242 | 134403983 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18612.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0152 a0001c0001t0001g0186 a0001c0001t0003g0096 |
3 | 124 | 0.0242 | 8 | c.-28 others(27): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar |