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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BASP1_chr5_17212631_17281834 | 17217071 | T | TGTGAGAG others(9): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0027 | a0001c0001t0005g0330 a0001c0001t0027g0309 |
2 | 264 | 0.0076 | 16 | c.-74 others(25): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 559 | chr5 | TogoVar | |||||||
BATF2_chr11_64982945_65001971 | 65000934 | C | CTCTTTCT others(9): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02615.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0007g0035 |
3 | 186 | 0.0161 | 16 | c.-40 others(27): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 3964 | chr11 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG02523.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(15): Show |
21 | 92 | 0.2283 | 16 | c.*53 others(27): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212687967 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0017 others(28): Show |
53 | 210 | 0.2524 | 16 | c.196 others(32): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212687996 | A | AAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 345 | 0.0029 | 16 | c.196 others(33): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75539424 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 34 | 0.0294 | 16 | c.169 others(33): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BATF_chr14_75517469_75551992 | 75550066 | T | TTTTCTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00673.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(23): Show |
28 | 166 | 0.1687 | 16 | c.*33 others(27): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 3075 | chr14 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75550069 | G | GCTTTCTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 78 | 0.0128 | 16 | c.*33 others(27): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 3078 | chr14 | TogoVar | |||||||
BAX_chr19_48949875_48966798 | 48954325 | C | CAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 35 | 0.0286 | 16 | c.-60 others(25): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 549 | chr19 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34759184 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0367 | 1 | 268 | 0.0037 | 16 | c.424 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34784367 | C | CCAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0153 | 1 | 92 | 0.0109 | 16 | c.183 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34796165 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01934.hp2 others(27): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0003a0004c0008t0003 | a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0143 others(27): Show |
30 | 179 | 0.1676 | 16 | c.112 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 9/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34796165 | T | TACATACA others(9): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0189 | 1 | 150 | 0.0067 | 16 | c.112 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 9/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832199 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0188 | 1 | 377 | 0.0027 | 16 | c.393 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832205 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0150 | 1 | 374 | 0.0027 | 16 | c.393 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832207 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0157 | 1 | 371 | 0.0027 | 16 | c.393 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832209 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18978.hp1 NA18999.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0142 a0001c0002t0003g0183 a0001c0002t0003g0184 |
3 | 343 | 0.0087 | 16 | c.393 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832211 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03927.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0005 | a0001c0002t0003g0179 a0001c0003t0005g0373 |
2 | 320 | 0.0063 | 16 | c.393 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0137 | 1 | 174 | 0.0057 | 16 | c.393 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34866502 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01257.hp1 others(4): Show |
a0002 | a0002c0006 | a0002c0006t0002a0002c0006t0007 | a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 others(4): Show |
7 | 110 | 0.0636 | 16 | c.114 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73454133 | T | TATAAATA others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0198 | 1 | 129 | 0.0078 | 16 | c.343 others(35): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 13/19 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73497065 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG02027.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0007a0001c0005t0002 | a0001c0001t0002g0021 a0001c0001t0002g0035 a0001c0001t0002g0038 others(8): Show |
11 | 137 | 0.0803 | 16 | c.571 others(33): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73497081 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 196 | 0.0051 | 16 | c.571 others(33): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73500890 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0199 | 1 | 189 | 0.0053 | 16 | c.370 others(33): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
BAZ2A_chr12_56590596_56635326 | 56597562 | G | GCACACAC others(9): Show |
3_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0181 | 1 | 6 | 0.1667 | 16 | c.*10 others(27): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 1055 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597637 | G | GACACACA others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp1 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0009 a0001c0002t0003g0094 |
2 | 96 | 0.0208 | 16 | c.*96 others(25): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 980 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56598272 | A | AGGGGAGG others(9): Show |
3_prime_UTR_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0137 | 1 | 314 | 0.0032 | 16 | c.*33 others(25): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 345 | chr12 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159423314 | T | TAAACAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(54): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(54): Show |
57 | 196 | 0.2908 | 16 | c.246 others(35): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 13/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159491720 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00609.hp1 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0029a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0029t0001others(3): Show | a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 others(7): Show |
10 | 72 | 0.1389 | 16 | c.-2- others(33): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74047407 | C | CTTTATTT others(9): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0217 | 1 | 217 | 0.0046 | 16 | c.648 others(31): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27054234 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18953.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0003 | a0001c0001t0001g0087 a0001c0005t0003g0263 |
2 | 248 | 0.0081 | 16 | c.-38 others(33): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27054234 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00738.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0093 others(11): Show |
15 | 261 | 0.0575 | 16 | c.-38 others(33): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp1 NA20300.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0188 a0001c0004t0001g0286 a0001c0004t0001g0287 |
3 | 198 | 0.0152 | 16 | c.220 others(31): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
BBOX1_chr11_27035815_27132809 | 27057064 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0181 | 1 | 3 | 0.3333 | 16 | c.220 others(31): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 269 | 0.0037 | 16 | c.*44 others(27): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480354 | A | AAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA18981.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0090 a0001c0001t0001g0100 |
3 | 367 | 0.0082 | 16 | c.*44 others(27): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4030 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72687124 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155 a0001c0001t0001g0357 a0001c0001t0002g0154 |
3 | 16 | 0.1875 | 16 | c.24+ others(29): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00735.hp2 others(21): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0002c0002t0001a0005c0010t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(21): Show |
24 | 41 | 0.5854 | 16 | c.24+ others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72689780 | T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 235 | 0.0043 | 16 | c.24+ others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72702802 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02015.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0105 |
3 | 21 | 0.1429 | 16 | c.77- others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169489851 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0172 | 1 | 13 | 0.0769 | 16 | c.386 others(33): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121832009 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03453.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0094 a0001c0001t0001g0191 a0001c0001t0011g0210 |
3 | 130 | 0.0231 | 16 | c.167 others(35): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 15/18 | chr4 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33188080 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00738.hp1 others(21): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0024 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0234 others(21): Show |
24 | 101 | 0.2376 | 16 | c.442 others(35): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33328993 | T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0162 a0001c0001t0002g0129 |
2 | 90 | 0.0222 | 16 | c.101 others(35): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33368577 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 133 | 0.0075 | 16 | c.178 others(33): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33368577 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 133 | 0.0075 | 16 | c.178 others(33): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33492811 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 39 | 0.0256 | 16 | c.211 others(37): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33590459 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(51): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0001c0021others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0063 others(51): Show |
54 | 176 | 0.3068 | 16 | c.252 others(37): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33596359 | T | TTATCTAT others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01243.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0021a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0070 a0001c0001t0001g0108 a0001c0001t0001g0125 others(16): Show |
19 | 47 | 0.4043 | 16 | c.252 others(35): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33596391 | C | CTATCTAT others(9): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 245 | 0.0041 | 16 | c.252 others(35): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |