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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAHCC1_chr17_81390457_81471331 | 81411514 | GCCTTCCT others(9): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02083.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0009a0001c0026others(10): Show | a0001c0003t0003a0001c0009t0037a0001c0026t0003others(10): Show | a0001c0003t0003g0302a0001c0009t0037g0319a0001c0026t0003g0246others(12): Show | 15 | 332 | 0.0452 | -16 | c.178 others(35): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81425398 | GTGGTGGG others(9): Show |
G | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0230 | 1 | 332 | 0.0030 | -16 | c.179 others(33): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81425477 | TGTGATGT others(9): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp2 others(38): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0007a0001c0010others(20): Show | a0001c0003t0003a0001c0007t0033a0001c0010t0001others(22): Show | a0001c0003t0003g0053a0001c0003t0003g0110a0001c0003t0003g0302others(37): Show | 41 | 332 | 0.1235 | -16 | c.179 others(33): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81425882 | TGGTGATG others(9): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 |
a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0025a0013c0027t0001g0026 | 2 | 332 | 0.0060 | -16 | c.179 others(31): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81446526 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01884.hp2 others(2): Show |
a0001a0047a0048 | a0001c0003a0047c0046a0048c0045 | a0001c0003t0003a0001c0003t0010a0047c0046t0004others(1): Show | a0001c0003t0003g0068a0001c0003t0003g0290a0001c0003t0010g0211others(2): Show | 5 | 332 | 0.0151 | -16 | c.316 others(33): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHD1_chr15_40435953_40473236 | 40447560 | GAATAAAT others(9): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0116a0001c0001t0001g0131others(18): Show | 28 | 372 | 0.0753 | -16 | c.-15 others(33): Show |
BAHD1 | ENSG00000140320.12 | transcript | ENST00000416165.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BAIAP2L1_chr7_98286650_98406090 | 98405322 | ATGCTTGC others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02922.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0005t0005 | a0001c0001t0002g0022a0001c0001t0004g0090a0001c0001t0004g0110others(1): Show | 4 | 298 | 0.0134 | -16 | c.-44 others(27): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4233 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98405332 | GCTTGCTT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01516.hp2 HG01517.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0001a0001c0003t0008others(1): Show | a0001c0001t0004g0099a0001c0001t0004g0100a0001c0001t0004g0102others(20): Show | 23 | 298 | 0.0772 | -16 | c.-44 others(27): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4243 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98405336 | GCTTGCTT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01258.hp1 NA18980.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0121a0001c0002t0001g0148a0001c0002t0001g0154others(2): Show | 5 | 298 | 0.0168 | -16 | c.-45 others(27): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4247 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98405340 | GCTTGCTT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169a0001c0002t0001g0227 | 2 | 298 | 0.0067 | -16 | c.-45 others(27): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4251 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98405344 | GCTTTCTT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0213 | 1 | 298 | 0.0034 | -16 | c.-45 others(27): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4255 | chr7 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81056794 | CTTCTGCT others(9): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0239others(27): Show | 30 | 376 | 0.0798 | -16 | c.131 others(31): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81098962 | GTCCCCCC others(9): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(151): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0006a0001c0001t0001g0052a0001c0001t0001g0073others(150): Show | 154 | 376 | 0.4096 | -16 | c.490 others(31): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81119229 | TGGGGCCG others(9): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(183): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(183): Show | 186 | 376 | 0.4947 | -16 | c.*33 others(27): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 1796 | chr17 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101839937 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG00741.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(5): Show | a0001c0001t0001g0214a0001c0002t0001g0110a0001c0002t0001g0112others(27): Show | 30 | 284 | 0.1056 | -16 | c.469 others(33): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101950046 | TGTGTGTG others(9): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 284 | 0.0035 | -16 | 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 | 101950048 | TGTGTGTG others(9): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02258.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0003g0124a0001c0001t0003g0138a0001c0001t0004g0216others(5): Show | 8 | 284 | 0.0282 | -16 | 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 | 101986853 | ATGTATAT others(9): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(25): Show |
a0001a0005a0009 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(25): Show | 28 | 284 | 0.0986 | -16 | c.120 others(37): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 88068007 | CGTGACAC others(9): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0270 | 1 | 352 | 0.0028 | -16 | c.137 others(35): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BARD1_chr2_214720646_214814683 | 214724766 | TGTGTTTT others(9): Show |
T | downstream_gene_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0253 | 1 | 362 | 0.0028 | -16 | c.*38 others(27): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 879 | chr2 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214751107 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0139 | 1 | 362 | 0.0028 | -16 | c.167 others(35): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214751111 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0208 | 1 | 362 | 0.0028 | -16 | c.167 others(35): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
BARHL1_chr9_132577606_132595252 | 132584121 | AGAAGGAA others(9): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0107a0001c0001t0003g0108 | 2 | 472 | 0.0042 | -16 | c.466 others(31): Show |
BARHL1 | ENSG00000125492.11 | transcript | ENST00000263610.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BARHL2_chr1_90706539_90722302 | 90709302 | AGAAGGGA others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03471.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 3 | 446 | 0.0067 | -16 | c.*29 others(27): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2236 | chr1 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90709320 | GAGGGAGG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01433.hp2 HG01515.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0018others(6): Show | 15 | 446 | 0.0336 | -16 | c.*29 others(27): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2218 | chr1 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90709324 | GAGGGAGG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0041 | 5 | 446 | 0.0112 | -16 | c.*29 others(27): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2214 | chr1 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90709328 | GAGGAAGG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02080.hp1 HG02080.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0075a0001c0001t0001g0076others(13): Show | 21 | 446 | 0.0471 | -16 | c.*29 others(27): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2210 | chr1 | TogoVar | ||||||
BARX2_chr11_129370848_129457279 | 129378135 | GGGTGGCT others(9): Show |
G | intron_variant | MODIFIER | NA19000.hp2 NA19075.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0380a0001c0002t0004g0381 | 2 | 400 | 0.0050 | -16 | c.187 others(33): Show |
BARX2 | ENSG00000043039.7 | transcript | ENST00000281437.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BATF2_chr11_64982945_65001971 | 65000934 | CTCTTTCT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 404 | 0.0050 | -16 | c.-40 others(27): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 3964 | chr11 | TogoVar | ||||||
BATF3_chr1_212681417_212704840 | 212687622 | GCTCTACT others(9): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02965.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 3 | 462 | 0.0065 | -16 | c.196 others(31): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
BATF3_chr1_212681417_212704840 | 212687996 | AAAGGAAG others(9): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(54): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(26): Show | 57 | 462 | 0.1234 | -16 | c.196 others(33): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
BATF_chr14_75517469_75551992 | 75550066 | TTTGCTTT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02257.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012a0001c0002t0001g0038a0001c0002t0001g0084others(12): Show | 17 | 376 | 0.0452 | -16 | c.*33 others(27): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 3075 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34759404 | CGATCTCC others(9): Show |
C | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 380 | 0.0026 | -16 | c.424 others(33): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34825447 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0167 | 1 | 380 | 0.0026 | -16 | c.536 others(31): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 4/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34851332 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 380 | 0.0026 | -16 | c.392 others(35): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73456937 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0090a0001c0001t0001g0092others(35): Show | 38 | 200 | 0.1900 | -16 | c.343 others(35): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 13/19 | chr7 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159324625 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | NA18906.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0097 | 2 | 216 | 0.0093 | -16 | c.635 others(33): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 36/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159403183 | TTAAAATA others(9): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00673.hp2 others(9): Show |
a0004a0006 | a0004c0004a0004c0009a0006c0006 | a0004c0004t0001a0004c0004t0002a0004c0009t0001others(2): Show | a0004c0004t0001g0005a0004c0004t0001g0013a0004c0004t0001g0070others(9): Show | 12 | 216 | 0.0556 | -16 | c.283 others(35): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 16/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159590187 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00639.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0023others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0047a0001c0001t0001g0061others(22): Show | 25 | 216 | 0.1157 | -16 | c.-46 others(35): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74028467 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp2 HG02027.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0208a0002c0002t0001g0210a0002c0002t0001g0211others(11): Show | 14 | 386 | 0.0363 | -16 | c.286 others(31): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74052934 | AGGCTGCA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0000a0001a0002others(12): Show | a0000c0018a0001c0001a0002c0002others(16): Show | a0000c0018t0003a0001c0001t0002a0001c0001t0003others(28): Show | a0000c0018t0003g0175a0001c0001t0002g0003a0001c0001t0002g0292others(372): Show | 379 | 386 | 0.9819 | -16 | c.128 others(35): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725787 | CCTTCCCT others(9): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01361.hp1 HG03834.hp2 others(2): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0028a0001c0001t0001g0106a0001c0001t0001g0119others(2): Show | 5 | 398 | 0.0126 | -16 | c.587 others(33): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72731065 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179a0001c0001t0002g0394 | 2 | 398 | 0.0050 | -16 | c.712 others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS7_chr4_121819329_121875474 | 121832009 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 374 | 0.0027 | -16 | c.167 others(35): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 15/18 | chr4 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33294286 | CTATCATC others(9): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 268 | 0.0037 | -16 | c.101 others(37): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33294290 | CATCTATC others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01175.hp1 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0135a0001c0001t0001g0142a0001c0001t0001g0231others(20): Show | 23 | 268 | 0.0858 | -16 | c.101 others(37): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33294343 | ATCTATCT others(9): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG03017.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0131a0001c0001t0007g0228a0001c0001t0008g0209others(3): Show | 6 | 268 | 0.0224 | -16 | c.101 others(37): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33386455 | CATTTATT others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 268 | 0.0037 | -16 | c.196 others(35): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33492811 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00639.hp2 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0001c0026others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(60): Show | 63 | 268 | 0.2351 | -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 | 33542699 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02257.hp1 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0017a0006c0005 | a0001c0001t0001a0001c0001t0007a0002c0017t0001others(1): Show | a0001c0001t0001g0106a0001c0001t0001g0116a0001c0001t0001g0119others(4): Show | 7 | 268 | 0.0261 | -16 | c.252 others(35): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |