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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAZ2A_chr12_56590596_56635326 | 56630170 | G | C | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-48 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12640 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630171 | G | T | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-49 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12641 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630172 | G | C | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-50 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12642 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630174 | A | T | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-52 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12644 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630178 | G | C | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-56 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12648 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630192 | C | T | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-70 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12662 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630193 | G | T | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-71 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12663 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630195 | G | C | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-73 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12665 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630203 | C | G | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-81 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12673 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630204 | G | A | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-82 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12674 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630205 | C | A | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-83 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12675 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630214 | G | C | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-92 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12684 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630216 | G | C | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-94 others(3): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12686 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630231 | G | T | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-10 others(4): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12701 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56630242 | G | T | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 314 | 0.0032 | 0 | c.-12 others(4): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/29 | 12712 | chr12 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159616249 | C | A | 5_prime_UTR_variant | MODIFIER | HG02647.hp2 HG02717.hp1 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0008a0002c0002t0005 | a0001c0001t0005g0130 a0001c0001t0008g0131 a0002c0002t0005g0129 |
3 | 214 | 0.0140 | 0 | c.-53 others(3): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/37 | 137530 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159616393 | T | C | 5_prime_UTR_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0131 | 1 | 214 | 0.0047 | 0 | c.-19 others(4): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/37 | 137674 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159616405 | A | T | 5_prime_UTR_variant | MODIFIER | NA18950.hp2 NA19079.hp1 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0003a0007c0010t0003 | a0001c0001t0003g0001 a0007c0010t0003g0002 |
2 | 214 | 0.0093 | 0 | c.-20 others(4): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/37 | 137686 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159616439 | C | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(128): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0020others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(128): Show |
131 | 214 | 0.6122 | 0 | c.-24 others(4): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/37 | 137720 | chr2 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47231012 | C | T | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0068 | 1 | 410 | 0.0024 | 0 | c.-99 others(3): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 1/4 | 2581 | chr19 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47231022 | G | C | 5_prime_UTR_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0067 | 1 | 410 | 0.0024 | 0 | c.-10 others(4): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 1/4 | 2591 | chr19 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47231023 | C | G | 5_prime_UTR_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0067 | 1 | 410 | 0.0024 | 0 | c.-11 others(4): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 1/4 | 2592 | chr19 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47231101 | G | C | 5_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0214 | 1 | 410 | 0.0024 | 0 | c.-18 others(4): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 1/4 | 2670 | chr19 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47231146 | T | TGCCGCC | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0005g0019 a0001c0001t0005g0022 a0001c0001t0005g0023 others(29): Show |
53 | 406 | 0.1305 | 6 | c.-23 others(15): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 1/4 | 2716 | chr19 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47231146 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00558.hp2 NA18943.hp1 NA18997.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0024 | 4 | 357 | 0.0112 | 9 | c.-24 others(18): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 1/4 | 2716 | chr19 | TogoVar | ||||||
BBIP1_chr10_110893730_110924180 | 110919127 | A | C | 5_prime_UTR_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0045 | 1 | 416 | 0.0024 | 0 | c.-63 others(3): Show |
BBIP1 | ENSG00000214413.9 | transcript | ENST00000448814.7 | protein_coding | 1/4 | 970 | chr10 | TogoVar | ||||||
BBIP1_chr10_110893730_110924180 | 110919164 | C | T | 5_prime_UTR_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0044 | 1 | 416 | 0.0024 | 0 | c.-10 others(4): Show |
BBIP1 | ENSG00000214413.9 | transcript | ENST00000448814.7 | protein_coding | 1/4 | 1007 | chr10 | TogoVar | ||||||
BBLN_chr9_128155265_128168924 | 128160297 | C | G | 5_prime_UTR_variant | MODIFIER | HG02965.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 2 | 393 | 0.0051 | 0 | c.-11 others(4): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 1/2 | 111 | chr9 | TogoVar | ||||||
BBLN_chr9_128155265_128168924 | 128160311 | T | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 394 | 0.0025 | 0 | c.-97 others(3): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 1/2 | 97 | chr9 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74019399 | C | T | 5_prime_UTR_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0005 | a0005c0005t0016 | a0005c0005t0016g0357 | 1 | 384 | 0.0026 | 0 | c.-80 others(3): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 1/12 | 80 | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27040941 | T | G | 5_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0251 a0001c0002t0006g0253 a0001c0002t0006g0254 others(5): Show |
8 | 316 | 0.0253 | 0 | c.-38 others(4): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 1/9 | 14490 | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27041353 | G | A | 5_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0278 | 1 | 316 | 0.0032 | 0 | c.-16 others(4): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/9 | 14078 | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27041355 | C | T | 5_prime_UTR_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG02818.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0009a0001c0002t0015 | a0001c0001t0009g0181 a0001c0002t0009g0180 a0001c0002t0015g0179 |
3 | 316 | 0.0095 | 0 | c.-16 others(4): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/9 | 14076 | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27041374 | C | T | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0079 | 1 | 316 | 0.0032 | 0 | c.-14 others(4): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/9 | 14057 | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27041428 | T | C | 5_prime_UTR_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00735.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0006others(3): Show | a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0123 others(36): Show |
45 | 316 | 0.1424 | 0 | c.-89 others(3): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/9 | 14003 | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27055415 | C | A | 5_prime_UTR_variant | MODIFIER | HG01981.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0175 a0001c0001t0008g0176 |
2 | 316 | 0.0063 | 0 | c.-16 others(3): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/9 | 16 | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27055430 | C | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(47): Show |
53 | 316 | 0.1677 | 0 | c.-1C others(2): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/9 | 1 | chr11 | TogoVar | ||||||
BBS10_chr12_76339474_76353415 | 76348375 | C | T | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 1 | 414 | 0.0024 | 0 | c.-17 others(3): Show |
BBS10 | ENSG00000179941.9 | transcript | ENST00000650064.2 | protein_coding | 1/2 | 17 | chr12 | TogoVar | ||||||
BBS12_chr4_122727704_122749939 | 122732771 | G | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(36): Show |
a0001a0003a0007others(1): Show | a0001c0006a0003c0003a0007c0009others(1): Show | a0001c0006t0004a0003c0003t0003a0007c0009t0004others(1): Show | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(15): Show |
39 | 362 | 0.1077 | 0 | c.-12 others(4): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/2 | 9122 | chr4 | TogoVar | ||||||
BBS12_chr4_122727704_122749939 | 122732834 | G | C | 5_prime_UTR_variant | MODIFIER | HG06807.hp2 | a0010 | a0010c0011 | a0010c0011t0006 | a0010c0011t0006g0113 | 1 | 362 | 0.0028 | 0 | c.-61 others(3): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/2 | 9059 | chr4 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56519902 | A | G | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0008t0003others(4): Show | a0001c0001t0002g0043 a0001c0001t0003g0279 a0001c0001t0003g0280 others(40): Show |
48 | 396 | 0.1212 | 0 | c.-40 others(3): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/17 | 40 | chr16 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56519999 | G | C | 5_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0003a0001c0008t0003a0003c0003t0003 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(9): Show |
14 | 396 | 0.0354 | 0 | c.-13 others(4): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/17 | 137 | chr16 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72686211 | C | T | 5_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG01358.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0156 a0002c0002t0004g0202 a0002c0002t0004g0242 others(2): Show |
5 | 396 | 0.0126 | 0 | c.-17 others(3): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/16 | 17 | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72686214 | T | A | 5_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039 a0001c0001t0005g0145 |
2 | 396 | 0.0051 | 0 | c.-14 others(3): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/16 | 14 | chr15 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169479514 | G | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(364): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(236): Show |
367 | 396 | 0.9268 | 0 | c.-40 others(3): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/12 | 40 | chr2 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169479532 | C | T | 5_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0109 a0001c0003t0020g0110 a0001c0003t0020g0111 |
3 | 396 | 0.0076 | 0 | c.-22 others(3): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/12 | 22 | chr2 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169479552 | C | A | 5_prime_UTR_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0036 | 1 | 396 | 0.0025 | 0 | c.-2C others(2): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/12 | 2 | chr2 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121870435 | A | T | 5_prime_UTR_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0210 | 1 | 372 | 0.0027 | 0 | c.-12 others(4): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 1/19 | 122 | chr4 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121870446 | G | C | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp1 others(109): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 others(75): Show |
112 | 372 | 0.3011 | 0 | c.-13 others(4): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 1/19 | 133 | chr4 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33129748 | T | G | 5_prime_UTR_variant | MODIFIER | HG03471.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0041 a0001c0001t0013g0042 |
2 | 266 | 0.0075 | 0 | c.-30 others(4): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/23 | 16505 | chr7 | TogoVar |