| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BANK1_chr4_101785730_102079812 | 102052113 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(90): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0066a0001c0001t0002g0020a0001c0001t0002g0024others(90): Show | 93 | 284 | 0.3275 | -18 | c.197 others(37): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BARD1_chr2_214720646_214814683 | 214751101 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0005 | a0005c0006 | a0005c0006t0046 | a0005c0006t0046g0035 | 1 | 362 | 0.0028 | -18 | c.167 others(37): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
| BARD1_chr2_214720646_214814683 | 214751111 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | NA19074.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0206 | 1 | 362 | 0.0028 | -18 | c.167 others(37): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
| BARHL2_chr1_90706539_90722302 | 90717524 | CAGGCGAA others(11): Show |
C | upstream_gene_variant | MODIFIER | NA18976.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 2 | 446 | 0.0045 | -18 | c.-34 others(27): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 223 | chr1 | TogoVar | ||||||
| BATF3_chr1_212681417_212704840 | 212687800 | ACCTATAG others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0238 | 4 | 462 | 0.0087 | -18 | c.196 others(33): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34844775 | GCGCACAC others(11): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0005 | 1 | 380 | 0.0026 | -18 | c.392 others(37): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34868894 | ATGTATGT others(11): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124a0001c0002t0001g0125 | 2 | 380 | 0.0053 | -18 | c.113 others(35): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | ||||||
| BAZ1B_chr7_73435406_73527293 | 73456937 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03139.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013 | a0001c0001t0001g0158a0001c0001t0005g0181a0001c0001t0013g0163 | 3 | 200 | 0.0150 | -18 | c.343 others(37): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 13/19 | chr7 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159324625 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02135.hp1 HG02683.hp1 HG03942.hp1 others(1): Show |
a0002a0005a0009others(1): Show | a0002c0002a0005c0005a0009c0015others(1): Show | a0002c0002t0001a0005c0005t0001a0009c0015t0002others(1): Show | a0002c0002t0001g0090a0005c0005t0001g0034a0009c0015t0002g0168others(1): Show | 4 | 216 | 0.0185 | -18 | c.635 others(35): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 36/36 | chr2 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159388684 | CATGTAGT others(11): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01261.hp2 HG02257.hp2 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0008a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0002g0148a0001c0008t0001g0035others(8): Show | 11 | 216 | 0.0509 | -18 | c.321 others(35): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 21/36 | chr2 | TogoVar | ||||||
| BBOF1_chr14_74014349_74071092 | 74036955 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp2 HG02965.hp1 |
a0006 | a0006c0005 | a0006c0005t0003a0006c0005t0016 | a0006c0005t0003g0374a0006c0005t0003g0375a0006c0005t0016g0381 | 3 | 386 | 0.0078 | -18 | c.495 others(35): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BBS10_chr12_76339474_76353415 | 76340326 | ATTTAAGT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 416 | 0.0048 | -18 | c.*54 others(29): Show |
BBS10 | ENSG00000179941.9 | transcript | ENST00000650064.2 | protein_coding | 4147 | chr12 | TogoVar | ||||||
| BBS7_chr4_121819329_121875474 | 121855896 | GTATGTGT others(11): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01081.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(5): Show | 8 | 374 | 0.0214 | -18 | c.529 others(33): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 5/18 | chr4 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33294335 | ATCTATCT others(11): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02074.hp2 NA18945.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0026a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0056others(9): Show | 12 | 268 | 0.0448 | -18 | c.101 others(39): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBS9_chr7_33124564_33611069 | 33565781 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01243.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0163others(4): Show | 7 | 268 | 0.0261 | -18 | c.252 others(39): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107584672 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0109a0001c0001t0012g0039 | 2 | 222 | 0.0090 | -18 | c.-84 others(37): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107616005 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 222 | 0.0045 | -18 | c.-83 others(37): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107638780 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 222 | 0.0045 | -18 | c.-83 others(35): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107700411 | CATCATTA others(11): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0122a0001c0001t0001g0154a0001c0001t0024g0035 | 3 | 222 | 0.0135 | -18 | c.-9- others(35): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BCAP29_chr7_107575246_107625478 | 107612391 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02132.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0049a0001c0001t0001g0110a0001c0001t0001g0122others(7): Show | 10 | 398 | 0.0251 | -18 | c.590 others(33): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BCAR3_chr1_93556741_93686837 | 93653800 | TGGTGATG others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 202 | 0.0050 | -18 | c.318 others(37): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
| BCAS3_chr17_60672851_61397831 | 60687571 | TCCAGCCG others(11): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0068a0001c0002t0002g0069 | 3 | 74 | 0.0405 | -18 | c.139 others(35): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 60754680 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 HG03579.hp1 |
a0003 | a0003c0001a0003c0010 | a0003c0001t0001a0003c0001t0002a0003c0010t0002 | a0003c0001t0001g0028a0003c0001t0002g0022a0003c0010t0002g0023 | 3 | 74 | 0.0405 | -18 | c.403 others(35): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 60770400 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0022 | 1 | 74 | 0.0135 | -18 | c.403 others(37): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 60920870 | AAACAACA others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01256.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(9): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0060others(29): Show | 32 | 74 | 0.4324 | -18 | c.994 others(35): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61059063 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0050 | 1 | 74 | 0.0135 | -18 | c.203 others(39): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61271589 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0052 | 1 | 74 | 0.0135 | -18 | c.242 others(39): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS4_chr20_50790061_50882177 | 50796452 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0262 | 1 | 270 | 0.0037 | -18 | c.90+ others(33): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BCAT1_chr12_24805024_24954101 | 24833653 | TTAAGGGT others(11): Show |
T | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0098 | 1 | 322 | 0.0031 | -18 | c.904 others(33): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24836906 | GAGAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0046a0001c0001t0051others(1): Show | a0001c0001t0002g0005a0001c0001t0002g0217a0001c0001t0046g0147others(3): Show | 6 | 322 | 0.0186 | -18 | c.818 others(33): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
| BCAT2_chr19_48790064_48816029 | 48793961 | AGTGTGTG others(11): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 408 | 0.0025 | -18 | c.*14 others(29): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1102 | chr19 | TogoVar | ||||||
| BCKDHB_chr6_80101671_80351270 | 80205791 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02976.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012 | a0001c0001t0007g0279a0001c0001t0012g0278 | 2 | 294 | 0.0068 | -18 | c.951 others(35): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BCL11A_chr2_60452194_60558654 | 60467111 | GTGGTGGT others(11): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0002g0094 | 2 | 262 | 0.0076 | -18 | c.487 others(35): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60467204 | GCGGTGAT others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02074.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0024others(5): Show | a0001c0001t0002g0110a0001c0001t0006g0239a0001c0001t0024g0237others(5): Show | 8 | 262 | 0.0305 | -18 | c.487 others(35): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99188537 | CCTGGGGC others(11): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 350 | 0.0029 | -18 | c.641 others(37): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99199681 | TGTGCGCG others(11): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0330 | 1 | 350 | 0.0029 | -18 | c.641 others(37): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99199686 | GCGCGCGC others(11): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01943.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0172a0001c0001t0005g0066a0001c0001t0007g0201others(2): Show | 5 | 350 | 0.0143 | -18 | c.641 others(37): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99199693 | CGCGCACG others(11): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0050 | a0001c0001t0011g0301a0001c0001t0050g0108 | 2 | 350 | 0.0057 | -18 | c.641 others(37): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99217385 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 350 | 0.0029 | -18 | c.640 others(37): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99225883 | GCCCCAAC others(11): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0165 | 1 | 350 | 0.0029 | -18 | c.640 others(35): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99243918 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02970.hp2 HG03579.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0037 | a0001c0001t0008g0114a0001c0001t0009g0060a0001c0001t0037g0010 | 3 | 350 | 0.0086 | -18 | c.428 others(37): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
| BCL2L11_chr2_111115914_111173444 | 111116483 | ACTGAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(53): Show | 72 | 398 | 0.1809 | -18 | c.-47 others(29): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 4430 | chr2 | TogoVar | ||||||
| BCL2L13_chr22_17633757_17735855 | 17680524 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02965.hp2 NA18906.hp1 |
a0005 | a0005c0008 | a0005c0008t0019 | a0005c0008t0019g0255a0005c0008t0019g0256 | 2 | 306 | 0.0065 | -18 | c.122 others(35): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715156 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0028 | a0001c0001t0024g0244a0001c0001t0028g0303 | 2 | 306 | 0.0065 | -18 | c.601 others(37): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L1_chr20_31659458_31727868 | 31683769 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 186 | 0.0054 | -18 | c.565 others(37): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63169351 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 264 | 0.0038 | -18 | c.586 others(37): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCL6_chr3_187716381_187750468 | 187737347 | CAGAGAGA others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01515.hp1 HG01517.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0040a0001c0001t0001g0140a0001c0002t0001g0229others(1): Show | 4 | 404 | 0.0099 | -18 | c.-49 others(35): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
| BCL7A_chr12_122016884_122067044 | 122020558 | GGGTTTCA others(11): Show |
G | upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0258 | 1 | 362 | 0.0028 | -18 | c.-15 others(29): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 1325 | chr12 | TogoVar | ||||||
| BCL7A_chr12_122016884_122067044 | 122033552 | TCCGCCCG others(11): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0040a0001c0002t0008others(3): Show | a0001c0001t0001g0354a0001c0001t0001g0356a0001c0001t0040g0355others(7): Show | 10 | 362 | 0.0276 | -18 | c.175 others(35): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BCL7A_chr12_122016884_122067044 | 122034190 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 NA18951.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0056a0001c0002t0004a0001c0002t0006others(1): Show | a0001c0001t0056g0325a0001c0002t0004g0217a0001c0002t0004g0219others(2): Show | 5 | 362 | 0.0138 | -18 | c.175 others(35): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |