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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AZU1_chr19_822837_837018 | 833272 | TAATAATA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp1 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 a0001c0003t0001g0041 |
2 | 311 | 0.0064 | -18 | c.*13 others(29): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1255 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833275 | TAATAAGA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01069.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0003t0001g0002 |
4 | 256 | 0.0156 | -18 | c.*13 others(29): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1258 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | TAAGAAGA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 139 | 0.0072 | -18 | c.*14 others(29): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
B2M_chr15_44706517_44723145 | 44721388 | CACACACA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 384 | 0.0026 | -18 | c.*37 others(29): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3244 | chr15 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG03831.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0031g0018 |
3 | 249 | 0.0120 | -18 | c.652 others(35): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474973 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 334 | 0.0030 | -18 | c.652 others(35): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235478141 | CCCCCGGG others(11): Show |
C | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 342 | 0.0029 | -18 | c.651 others(35): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0095 | 1 | 11 | 0.0909 | -18 | c.556 others(33): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167369061 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01081.hp2 NA18612.hp2 NA18953.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0002 a0001c0001t0006g0089 a0001c0001t0008g0080 others(2): Show |
5 | 9 | 0.5556 | -18 | c.-51 others(39): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167408015 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0032 | a0001c0001t0006g0040 a0001c0001t0032g0103 |
2 | 6 | 0.3333 | -18 | c.-51 others(39): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167625942 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010 | a0001c0001t0004g0014 a0001c0001t0005g0101 a0001c0001t0010g0075 |
3 | 34 | 0.0882 | -18 | c.-40 others(39): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639383 | CTTCCTTC others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0077 | a0002c0002t0077g0027 | 1 | 330 | 0.0030 | -18 | c.-39 others(37): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134403983 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0072 | 1 | 122 | 0.0082 | -18 | c.-28 others(37): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70861294 | AAACCTGT others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00621.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0075a0001c0002t0087 | a0001c0001t0075g0135 a0001c0002t0087g0235 |
2 | 314 | 0.0064 | -18 | c.*35 others(27): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 4/4 | 351 | chr6 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77032662 | TATATATA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03579.hp1 HG06807.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0026a0002c0003t0004 | a0001c0002t0026g0003 a0002c0003t0004g0004 |
3 | 438 | 0.0068 | -18 | c.-18 others(29): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1735 | chr11 | TogoVar | |||||||
B3GNT8_chr19_41420359_41432374 | 41430021 | TTTCTACT others(11): Show |
T | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 418 | 0.0024 | -18 | c.-27 others(29): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2648 | chr19 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 456435 | CAGATATA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(82): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0030others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(54): Show | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0323 others(82): Show |
85 | 128 | 0.6641 | -18 | c.-39 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3503 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 473215 | TCCTCAGC others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG00741.hp1 others(79): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0010others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 others(79): Show |
82 | 392 | 0.2092 | -18 | c.169 others(37): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511013 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG01978.hp1 |
a0001a0006 | a0001c0001a0006c0020 | a0001c0001t0007a0006c0020t0002 | a0001c0001t0007g0030 a0006c0020t0002g0275 |
2 | 41 | 0.0488 | -18 | c.170 others(37): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511686 | ACCTTCTG others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(22): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(19): Show | a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0006g0062 others(22): Show |
25 | 392 | 0.0638 | -18 | c.170 others(37): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512672 | ACCTTCCA others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01516.hp1 others(12): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0003c0004others(5): Show | a0001c0001t0003a0001c0001t0020a0001c0001t0053others(10): Show | a0001c0001t0003g0135 a0001c0001t0020g0130 a0001c0001t0053g0077 others(12): Show |
15 | 392 | 0.0383 | -18 | c.170 others(37): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 552292 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0194 a0001c0001t0002g0126 a0001c0001t0016g0282 others(1): Show |
4 | 74 | 0.0541 | -18 | c.120 others(35): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 370003 | GGGCGCGG others(11): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01346.hp2 others(6): Show |
a0001a0004a0015 | a0001c0003a0004c0014a0004c0042others(3): Show | a0001c0003t0002a0004c0014t0002a0004c0042t0001others(3): Show | a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0026 others(6): Show |
9 | 152 | 0.0592 | -18 | c.151 others(31): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33109815 | CTTGTTGG others(11): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0169 | 1 | 364 | 0.0027 | -18 | c.*36 others(29): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 826 | chr9 | TogoVar | |||||||
B4GALT4_chr3_119206742_119245878 | 119216429 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 434 | 0.0023 | -18 | c.798 others(32): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49664421 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0126 | 1 | 82 | 0.0122 | -18 | c.116 others(35): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49665440 | GTAATAAT others(11): Show |
G | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258 | 1 | 187 | 0.0053 | -18 | c.116 others(35): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49694658 | AGGAAAGG others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(129): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0010others(16): Show | a0001c0001t0004g0290 a0001c0002t0001g0204 a0001c0002t0001g0205 others(129): Show |
132 | 214 | 0.6168 | -18 | c.115 others(37): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28026941 | TATATATT others(11): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 others(47): Show |
50 | 156 | 0.3205 | -18 | c.495 others(35): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28111132 | CTATTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01106.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0023 others(27): Show |
30 | 156 | 0.1923 | -18 | c.571 others(37): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112714 | TATATACC others(11): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 a0001c0001t0003g0136 |
2 | 156 | 0.0128 | -18 | c.571 others(37): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
BACH1_chr21_29293922_29351148 | 29324556 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(166): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0008a0001c0001t0029a0001c0002t0001others(14): Show | a0001c0001t0008g0022 a0001c0001t0008g0066 a0001c0001t0008g0067 others(128): Show |
169 | 186 | 0.9086 | -18 | c.235 others(35): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89930114 | GACACACA others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03831.hp1 HG04199.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0067a0001c0002t0098 | a0001c0001t0067g0042 a0001c0002t0098g0098 |
2 | 47 | 0.0426 | -18 | c.*22 others(29): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 9/9 | 2276 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89959097 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0020others(6): Show | a0001c0001t0003g0029 a0001c0001t0004g0016 a0001c0001t0020g0089 others(6): Show |
9 | 23 | 0.3913 | -18 | c.244 others(35): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90014458 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0162 | 1 | 171 | 0.0058 | -18 | c.-12 others(35): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BAD_chr11_64264830_64289665 | 64271207 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG00621.hp1 NA18612.hp2 NA19000.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0002c0004t0004 | a0001c0001t0004g0023 a0001c0001t0004g0092 a0001c0001t0004g0291 others(1): Show |
5 | 63 | 0.0794 | -18 | c.378 others(33): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
BAD_chr11_64264830_64289665 | 64282969 | ACTTAAGC others(11): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG03139.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 |
3 | 386 | 0.0078 | -18 | c.187 others(35): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
BAG1_chr9_33247471_33269708 | 33264394 | AGGGTCAA others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00423.hp1 NA18747.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0113 a0001c0004t0001g0114 |
2 | 346 | 0.0058 | -18 | c.263 others(25): Show |
p.Arg others(11): Show |
BAG1 | ENSG00000107262.26 | transcript | ENST00000634734.3 | protein_coding | 1/7 | 314/3820 | 263/1038 | 88/345 | chr9 | TogoVar | |||
BAG4_chr8_38171855_38218301 | 38215349 | GTAATATA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02723.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0008a0001c0001t0027a0005c0004t0008 | a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 others(3): Show |
6 | 304 | 0.0197 | -18 | c.*48 others(29): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2049 | chr8 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81446526 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00733.hp1 others(28): Show |
a0002a0005a0008others(5): Show | a0002c0008a0002c0010a0002c0021others(12): Show | a0002c0008t0006a0002c0008t0024a0002c0008t0025others(18): Show | a0002c0008t0006g0134 a0002c0008t0024g0248 a0002c0008t0025g0253 others(28): Show |
31 | 90 | 0.3444 | -18 | c.316 others(35): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98313124 | CCACCCCA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(217): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0229 a0001c0001t0001g0247 a0001c0001t0001g0253 others(216): Show |
220 | 296 | 0.7432 | -18 | c.640 others(33): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 7/13 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81089709 | GTCAGGAA others(11): Show |
G | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0107 | 1 | 374 | 0.0027 | -18 | c.489 others(35): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP3_chr16_1328645_1354439 | 1345664 | AGCCTCCC others(11): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0163 | 1 | 356 | 0.0028 | -18 | c.206 others(33): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BAIAP3_chr16_1328645_1354439 | 1346787 | TGCAGGTG others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(141): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(26): Show | a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0116 others(76): Show |
144 | 356 | 0.4045 | -18 | c.264 others(33): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101839937 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02109.hp1 HG02165.hp2 others(19): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0062 a0001c0002t0001g0108 a0001c0002t0003g0147 others(19): Show |
22 | 50 | 0.4400 | -18 | c.469 others(35): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101922009 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02074.hp1 NA19064.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0275 a0001c0002t0003g0107 a0001c0002t0003g0157 |
3 | 58 | 0.0517 | -18 | c.120 others(37): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101950018 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(58): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0004a0004c0005others(4): Show | a0001c0001t0001a0003c0004t0001a0003c0004t0003others(8): Show | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(58): Show |
61 | 140 | 0.4357 | -18 | c.120 others(39): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101986851 | ATATGTAT others(11): Show |
A | intron_variant | MODIFIER | NA18612.hp2 NA18959.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0146 |
3 | 272 | 0.0110 | -18 | c.120 others(39): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101986855 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp1 others(30): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0007others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 others(30): Show |
33 | 278 | 0.1187 | -18 | c.120 others(39): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 102052113 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(89): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0064 a0001c0001t0002g0024 a0001c0001t0002g0035 others(88): Show |
92 | 165 | 0.5576 | -18 | c.197 others(37): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |