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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 197 | 0.0102 | 28 | c.220 others(43): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA19057.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0145 |
2 | 270 | 0.0074 | 28 | c.*44 others(39): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72725812 | C | CCCCCATC others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 251 | 0.0040 | 28 | c.587 others(45): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107778994 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01884.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0020others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0194 a0001c0001t0014g0030 others(2): Show |
5 | 93 | 0.0538 | 28 | c.220 others(45): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107797337 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02074.hp2 others(14): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0057 others(14): Show |
17 | 97 | 0.1753 | 28 | c.235 others(47): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107797364 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01496.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0034 | a0001c0001t0005g0019 a0001c0001t0006g0046 a0001c0001t0006g0096 others(2): Show |
5 | 162 | 0.0309 | 28 | c.235 others(47): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107591641 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0244 | 1 | 298 | 0.0034 | 28 | c.194 others(45): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107591656 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01099.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0152 others(7): Show |
10 | 212 | 0.0472 | 28 | c.194 others(45): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54041908 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02040.hp2 HG02970.hp2 others(1): Show |
a0001a0006a0007others(1): Show | a0001c0001a0006c0006a0007c0008others(1): Show | a0001c0001t0003a0006c0006t0064a0007c0008t0010others(1): Show | a0001c0001t0003g0163 a0006c0006t0064g0170 a0007c0008t0010g0179 others(1): Show |
4 | 240 | 0.0167 | 28 | c.143 others(47): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60802371 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0018 | 1 | 33 | 0.0303 | 28 | c.404 others(45): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60973585 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 57 | 0.0175 | 28 | c.122 others(49): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61375246 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 51 | 0.0196 | 28 | c.259 others(47): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61375246 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03579.hp1 |
a0001a0003 | a0001c0002a0003c0001 | a0001c0002t0002a0003c0001t0001 | a0001c0002t0002g0057 a0003c0001t0001g0028 |
2 | 52 | 0.0385 | 28 | c.259 others(47): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61375247 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0007 | 1 | 73 | 0.0137 | 28 | c.259 others(47): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50859549 | A | AAGAGGGC others(21): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01256.hp1 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0079 a0001c0001t0001g0120 a0001c0001t0001g0128 others(48): Show |
51 | 268 | 0.1903 | 28 | c.400 others(47): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24936712 | A | ATCTCTCT others(21): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01261.hp2 HG02602.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0032others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0168 a0001c0001t0003g0191 others(5): Show |
8 | 130 | 0.0615 | 28 | c.6+1 others(43): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31117369 | A | AAAATAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 153 | 0.0065 | 28 | c.*51 others(39): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4579 | chr16 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99199683 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0061a0001c0004t0001 | a0001c0002t0061g0169 a0001c0004t0001g0001 a0001c0004t0001g0178 |
4 | 249 | 0.0161 | 28 | c.641 others(47): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99217385 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02056.hp1 HG02071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0163 a0001c0001t0001g0222 a0001c0001t0001g0266 others(7): Show |
10 | 189 | 0.0529 | 28 | c.640 others(47): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99222836 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0060 | a0001c0002t0060g0176 | 1 | 270 | 0.0037 | 28 | c.640 others(45): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52111173 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02965.hp1 HG02970.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(1): Show | a0002c0002t0002g0070 a0002c0002t0003g0097 a0002c0002t0006g0092 others(1): Show |
4 | 70 | 0.0571 | 28 | c.489 others(45): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 1/1 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0023 | 1 | 219 | 0.0046 | 28 | c.-43 others(39): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0094 | 1 | 219 | 0.0046 | 28 | c.-43 others(39): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17720154 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG01358.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0002g0117 a0001c0001t0002g0144 a0001c0001t0002g0202 others(11): Show |
14 | 122 | 0.1148 | 28 | c.601 others(45): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31697892 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 67 | 0.0149 | 28 | c.564 others(47): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63169336 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01168.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0110 a0001c0001t0002g0018 a0001c0001t0003g0114 others(8): Show |
11 | 126 | 0.0873 | 28 | c.586 others(47): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63266637 | T | TCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0031 | 1 | 227 | 0.0044 | 28 | c.585 others(47): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL3_chr19_44743708_44765044 | 44764168 | A | AAGGAAGG others(21): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 331 | 0.0030 | 28 | c.*45 others(39): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4125 | chr19 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81235191 | T | TAAATAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0164 | 1 | 393 | 0.0025 | 28 | c.-37 others(39): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3497 | chr16 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81235210 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG03579.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0125 a0001c0005t0001g0112 a0001c0005t0001g0132 |
3 | 248 | 0.0121 | 28 | c.-36 others(39): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3478 | chr16 | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046528 | A | ATATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 247 | 0.0040 | 28 | c.*55 others(39): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4722 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046528 | A | ATATATAT others(21): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 247 | 0.0040 | 28 | c.*55 others(39): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4722 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046554 | A | ATATGTAT others(21): Show |
downstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 235 | 0.0043 | 28 | c.*55 others(39): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4696 | chrX | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGTGTGTG others(21): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0137 |
2 | 182 | 0.0110 | 28 | c.*12 others(39): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197542521 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01934.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0122 a0001c0001t0003g0002 |
5 | 176 | 0.0284 | 28 | c.83+ others(43): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 3/7 | chr3 | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197549975 | T | TTATTTTT others(21): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0054 | 1 | 178 | 0.0056 | 28 | c.-43 others(45): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
BEAN1_chr16_66422295_66487833 | 66474610 | G | GAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 250 | 0.0040 | 28 | c.290 others(45): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474614 | G | GAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0096 others(2): Show |
6 | 257 | 0.0233 | 28 | c.290 others(45): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474622 | G | GAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 261 | 0.0038 | 28 | c.290 others(45): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474637 | G | GGAGGGAG others(21): Show |
intron_variant | MODIFIER | HG01071.hp1 NA20752.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 |
3 | 296 | 0.0101 | 28 | c.290 others(45): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTTTT others(21): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02055.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0001a0001c0004t0011a0001c0007t0001 | a0001c0004t0001g0015 a0001c0004t0011g0060 a0001c0004t0011g0061 others(1): Show |
5 | 135 | 0.0370 | 28 | c.482 others(45): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69685029 | C | CTATTCTA others(21): Show |
intron_variant | MODIFIER | HG02735.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 a0001c0001t0003g0194 |
2 | 361 | 0.0055 | 28 | c.482 others(45): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST4_chr1_44778585_44793170 | 44791850 | T | TCCGGAGC others(21): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 388 | 0.0026 | 28 | c.-41 others(39): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 3681 | chr1 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133424216 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 224 | 0.0045 | 28 | c.490 others(47): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275531 | G | GGTGAGTG others(21): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(133): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0005g0000 others(2): Show |
136 | 394 | 0.3452 | 28 | c.*42 others(39): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3717 | chr17 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58607317 | A | AAAATAAA others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(45): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0082 others(45): Show |
48 | 69 | 0.6957 | 28 | c.191 others(47): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58607341 | T | TAAATAAA others(21): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0018 | 1 | 130 | 0.0077 | 28 | c.191 others(47): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32142468 | A | ATCTATCT others(21): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02145.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0002t0003 | a0001c0001t0004g0142 a0001c0001t0004g0287 a0001c0001t0006g0150 others(3): Show |
6 | 196 | 0.0306 | 28 | c.213 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32198323 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | NA18981.hp1 NA18998.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0074 a0001c0002t0004g0171 |
2 | 126 | 0.0159 | 28 | c.214 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL2_chr16_3022682_3041944 | 3034658 | C | CTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 162 | 0.0062 | 28 | c.282 others(43): Show |
BICDL2 | ENSG00000162069.16 | transcript | ENST00000572449.6 | protein_coding | 2/9 | chr16 | TogoVar |