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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCKDHB_chr6_80101671_80351270 | 80199614 | TAAAATTA others(4): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0129a0001c0001t0012g0130a0001c0001t0012g0131 | 3 | 294 | 0.0102 | -11 | c.743 others(28): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80216821 | GTTAAGAA others(4): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0166 | 1 | 294 | 0.0034 | -11 | c.951 others(30): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80221061 | TTTTTATT others(4): Show |
T | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0096a0001c0001t0009g0098 | 2 | 294 | 0.0068 | -11 | c.951 others(30): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCL11A_chr2_60452194_60558654 | 60507245 | AGGGGAGG others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 262 | 0.0038 | -11 | c.386 others(30): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553482 | CAAAAAAA others(4): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0005 | 1 | 262 | 0.0038 | -11 | c.-22 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 213 | chr2 | TogoVar | |||||
BCL11B_chr14_99164287_99277197 | 99255405 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0071 | 1 | 350 | 0.0029 | -11 | c.427 others(28): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99269875 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0084a0001c0002t0010 | a0001c0001t0084g0308a0001c0002t0010g0307 | 2 | 350 | 0.0057 | -11 | c.58+ others(26): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17646953 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0249 | 1 | 306 | 0.0033 | -11 | c.-51 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17652162 | ACATAGCT others(4): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0006 | 1 | 306 | 0.0033 | -11 | c.-50 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17656335 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01261.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0006a0001c0002t0006a0001c0002t0014others(5): Show | a0001c0001t0006g0070a0001c0002t0006g0066a0001c0002t0006g0067others(18): Show | 21 | 306 | 0.0686 | -11 | c.121 others(26): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17680531 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 306 | 0.0033 | -11 | c.122 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17685760 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02615.hp1 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0007a0001c0001t0017a0001c0001t0021others(2): Show | a0001c0001t0007g0008a0001c0001t0007g0009a0001c0001t0007g0012others(9): Show | 12 | 306 | 0.0392 | -11 | c.229 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17687317 | GTTTTATT others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(157): Show |
a0001 | a0001c0001a0001c0009a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(40): Show | a0001c0001t0002g0099a0001c0001t0002g0100a0001c0001t0002g0111others(157): Show | 160 | 306 | 0.5229 | -11 | c.230 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715160 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 | 1 | 306 | 0.0033 | -11 | c.601 others(30): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17719827 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01168.hp2 others(43): Show |
a0001a0007a0008 | a0001c0001a0001c0007a0007c0013others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0023others(6): Show | a0001c0001t0003g0002a0001c0001t0003g0021a0001c0001t0003g0022others(43): Show | 46 | 306 | 0.1503 | -11 | c.601 others(28): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L1_chr20_31659458_31727868 | 31659552 | GTTTTTTT others(4): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01261.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0095a0001c0001t0001g0096others(13): Show | 16 | 186 | 0.0860 | -11 | c.*63 others(22): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 4905 | chr20 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63169309 | TTCCTTCC others(4): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01981.hp2 HG02135.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0197a0001c0001t0001g0204a0001c0001t0002g0020others(6): Show | 9 | 264 | 0.0341 | -11 | c.586 others(30): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44757479 | CGGGGCCA others(4): Show |
C | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0159 | 1 | 344 | 0.0029 | -11 | c.813 others(24): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCL7A_chr12_122016884_122067044 | 122028779 | TGTGTAAG others(4): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0002t0009a0001c0002t0024others(1): Show | a0001c0001t0021g0058a0001c0002t0009g0025a0001c0002t0024g0329others(1): Show | 4 | 362 | 0.0111 | -11 | c.93- others(26): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7A_chr12_122016884_122067044 | 122031736 | GGGGCTCC others(4): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0321 | 1 | 362 | 0.0028 | -11 | c.174 others(26): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL9_chr1_147536501_147631216 | 147630066 | ACCAGATT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp1 NA18969.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0173a0001c0001t0003g0175a0001c0001t0005g0119 | 3 | 316 | 0.0095 | -11 | c.*51 others(22): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 3851 | chr1 | TogoVar | ||||||
BCLAF1_chr6_136251627_136294846 | 136258412 | AAAAACAA others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0211 | 1 | 310 | 0.0032 | -11 | c.*26 others(22): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 13/13 | 2687 | chr6 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81254295 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 402 | 0.0025 | -11 | c.194 others(28): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81268222 | TGGCATGG others(4): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00733.hp1 others(44): Show |
a0001a0006a0010 | a0001c0005a0001c0007a0001c0017others(2): Show | a0001c0005t0001a0001c0007t0001a0001c0017t0001others(2): Show | a0001c0005t0001g0012a0001c0005t0001g0013a0001c0005t0001g0020others(44): Show | 47 | 402 | 0.1169 | -11 | c.843 others(25): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81280269 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0159a0001c0001t0001g0213a0001c0001t0001g0217others(12): Show | 15 | 402 | 0.0373 | -11 | c.110 others(28): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81280298 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 |
a0001a0008 | a0001c0007a0008c0013 | a0001c0007t0001a0008c0013t0001 | a0001c0007t0001g0162a0008c0013t0001g0029 | 2 | 402 | 0.0050 | -11 | c.110 others(28): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81283793 | GTTGGCGG others(4): Show |
G | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 402 | 0.0025 | -11 | c.120 others(30): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 8/10 | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81292235 | TTTTTTCT others(4): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG02965.hp1 others(4): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0002t0001g0018others(4): Show | 7 | 402 | 0.0174 | -11 | c.*16 others(22): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1094 | chr16 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112219445 | TGCATGAG others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02602.hp2 HG02735.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0114a0003c0003t0001g0115 | 2 | 380 | 0.0053 | -11 | c.*15 others(22): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 500 | chr11 | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 129989444 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19012.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0079 | 2 | 203 | 0.0099 | -11 | c.-45 others(28): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129991651 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 203 | 0.0049 | -11 | c.-45 others(28): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510600 | GTGTGTGT others(4): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0106 | 1 | 319 | 0.0031 | -11 | c.*12 others(22): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1284 | chr3 | TogoVar | |||||
BDH2_chr4_103072592_103104834 | 103088493 | CCCTAGTC others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00673.hp1 others(90): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0025a0001c0001t0001g0148a0001c0001t0002g0050others(53): Show | 93 | 382 | 0.2435 | -11 | c.358 others(28): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 5/9 | chr4 | TogoVar | ||||||
BDH2_chr4_103072592_103104834 | 103096531 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0021a0001c0001t0006g0036a0001c0001t0006g0107others(3): Show | 9 | 382 | 0.0236 | -11 | c.-20 others(26): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96220198 | GTCCCAGC others(4): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0120a0001c0001t0001g0248others(31): Show | 41 | 436 | 0.0940 | -11 | c.-40 others(30): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
BDNF_chr11_27649893_27705455 | 27698226 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 360 | 0.0028 | -11 | c.-22 others(28): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71526615 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 325 | 0.0031 | -11 | c.577 others(30): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71557375 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01981.hp1 NA19067.hp2 NA19068.hp1 |
a0002a0011 | a0002c0002a0011c0011 | a0002c0002t0001a0002c0002t0003a0011c0011t0001 | a0002c0002t0001g0163a0002c0002t0003g0206a0011c0011t0001g0184 | 3 | 325 | 0.0092 | -11 | c.724 others(28): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BECN2_chr1_241952767_241964062 | 241957089 | GTGTGTGT others(4): Show |
G | upstream_gene_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 1 | 444 | 0.0023 | -11 | c.-67 others(20): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 677 | chr1 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546812 | ACTCACAC others(4): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0167 | 1 | 326 | 0.0031 | -11 | c.72- others(24): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107111981 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(335): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(68): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0009others(329): Show | 338 | 368 | 0.9185 | -11 | c.-12 others(28): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107114607 | TGCCCCGC others(4): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0021a0001c0001t0003g0025a0001c0001t0003g0033others(25): Show | 28 | 368 | 0.0761 | -11 | c.-12 others(26): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
BEND4_chr4_42105853_42157655 | 42129634 | GGGGAAAG others(4): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 226 | 0.0044 | -11 | c.105 others(30): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
BEND4_chr4_42105853_42157655 | 42146590 | TTTTACTT others(4): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0026 | a0001c0001t0007g0005a0001c0001t0026g0100 | 4 | 226 | 0.0177 | -11 | c.488 others(28): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
BEST4_chr1_44778585_44793170 | 44779564 | GTTGGTCA others(4): Show |
G | downstream_gene_variant | MODIFIER | NA18986.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0033 | 1 | 390 | 0.0026 | -11 | c.*46 others(22): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 4020 | chr1 | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103315747 | AATAGATA others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 308 | 0.0033 | -11 | c.-49 others(22): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 4758 | chrX | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17504911 | TTTTTGTT others(4): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0034 | 1 | 396 | 0.0025 | -11 | c.735 others(28): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133406560 | GCCATCTA others(4): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0012others(3): Show | 7 | 276 | 0.0254 | -11 | c.489 others(28): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133425768 | AAAGGGAA others(4): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 276 | 0.0036 | -11 | c.490 others(30): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133425774 | AAAGGGAA others(4): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0017others(23): Show | 27 | 276 | 0.0978 | -11 | c.490 others(30): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |