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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL7A_chr12_122016884_122067044 | 122017791 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01255.hp2 HG01261.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0067a0001c0002t0023others(8): Show | a0001c0001t0003g0006a0001c0001t0067g0003a0001c0002t0023g0278others(13): Show | 16 | 362 | 0.0442 | -5 | c.-43 others(16): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 4092 | chr12 | TogoVar | ||||||
BCL7B_chr7_73531356_73562690 | 73551951 | GGGTGT | G | intron_variant | MODIFIER | HG00609.hp1 HG02083.hp1 NA18945.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0132a0001c0001t0001g0133others(3): Show | 7 | 284 | 0.0247 | -5 | c.168 others(20): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 2/5 | chr7 | TogoVar | ||||||
BCL7C_chr16_30882795_30899077 | 30883536 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0024 | 8 | 324 | 0.0247 | -5 | c.*43 others(16): Show |
BCL7C | ENSG00000099385.12 | transcript | ENST00000215115.5 | protein_coding | 4258 | chr16 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147621273 | TAAAAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp2 others(60): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(5): Show | a0001c0001t0004g0001a0001c0001t0004g0006a0001c0001t0004g0012others(52): Show | 63 | 316 | 0.1994 | -5 | c.290 others(22): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19908362 | AAAAAG | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG02300.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0132a0001c0001t0001g0133others(1): Show | 4 | 207 | 0.0193 | -5 | c.*89 others(16): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4497 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19990923 | CCGCCG | C | 5_prime_UTR_variant | MODIFIER | HG02738.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0185a0001c0001t0025g0186 | 2 | 207 | 0.0097 | -5 | c.-55 others(12): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/12 | 20660 | chrX | TogoVar | |||||
BCLAF3_chrX_19907860_19996061 | 19990938 | CCGCCG | C | 5_prime_UTR_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0203 | 1 | 207 | 0.0048 | -5 | c.-70 others(12): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/12 | 20675 | chrX | TogoVar | |||||
BCLAF3_chrX_19907860_19996061 | 19995633 | GAAAGA | G | upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 207 | 0.0048 | -5 | c.-47 others(16): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4573 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995653 | GAAAGA | G | upstream_gene_variant | MODIFIER | HG01081.hp1 NA19240.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0039 | a0001c0001t0004g0002a0001c0001t0004g0055a0001c0001t0039g0056 | 3 | 207 | 0.0145 | -5 | c.-47 others(16): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4593 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995664 | AGGAGG | A | upstream_gene_variant | MODIFIER | HG02809.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0046 | a0001c0001t0004g0052a0001c0001t0046g0086 | 2 | 207 | 0.0097 | -5 | c.-47 others(16): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4604 | chrX | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81280269 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00733.hp1 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0329a0001c0005t0001g0023a0001c0005t0001g0024others(39): Show | 42 | 402 | 0.1045 | -5 | c.110 others(22): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81288204 | CATTAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00673.hp1 others(43): Show |
a0001a0003a0005others(2): Show | a0001c0005a0003c0003a0003c0009others(4): Show | a0001c0005t0001a0003c0003t0001a0003c0009t0001others(4): Show | a0001c0005t0001g0091a0003c0003t0001g0006a0003c0003t0001g0007others(41): Show | 46 | 402 | 0.1144 | -5 | c.141 others(22): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112195020 | CTATCT | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00741.hp1 others(76): Show |
a0001a0002a0012 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0007t0001others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0061others(73): Show | 79 | 380 | 0.2079 | -5 | c.736 others(20): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112196915 | TCCTTC | T | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp2 others(76): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(72): Show | 79 | 380 | 0.2079 | -5 | c.736 others(22): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112219420 | TAGAAG | T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01952.hp2 others(18): Show |
a0001a0008a0017 | a0001c0001a0008c0009a0017c0021 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0002g0103a0001c0001t0002g0104a0001c0001t0002g0105others(18): Show | 21 | 380 | 0.0553 | -5 | c.*15 others(16): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 475 | chr11 | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130011002 | TAAAAA | T | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp1 NA18522.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0006a0001c0005t0009 | a0001c0003t0002g0054a0001c0005t0006g0196a0001c0005t0009g0191 | 3 | 203 | 0.0148 | -5 | c.87- others(20): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130022236 | CTTTTT | C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 | 1 | 203 | 0.0049 | -5 | c.360 others(22): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043782 | ATATTT | A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 203 | 0.0049 | -5 | c.484 others(24): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCOR_chrX_40046251_40102958 | 40058052 | CTTAAG | C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01167.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0020a0001c0002t0001g0151a0001c0002t0001g0155others(2): Show | 5 | 257 | 0.0195 | -5 | c.442 others(22): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 10/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40080860 | GTGTGT | G | intron_variant | MODIFIER | HG01069.hp1 NA18612.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156a0001c0002t0001g0224 | 2 | 257 | 0.0078 | -5 | c.-40 others(22): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23185581 | CGTGAA | C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03471.hp1 |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0002a0001c0010t0010g0103 | 3 | 296 | 0.0101 | -5 | c.127 others(24): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23231506 | CATAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0077a0001c0001t0141a0001c0004t0109others(4): Show | a0001c0001t0077g0150a0001c0001t0141g0210a0001c0004t0109g0273others(4): Show | 7 | 296 | 0.0237 | -5 | c.128 others(26): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23304099 | ATTTTT | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0010others(3): Show | a0001c0002t0045a0001c0002t0113a0001c0002t0117others(10): Show | a0001c0002t0045g0270a0001c0002t0113g0212a0001c0002t0117g0291others(10): Show | 13 | 296 | 0.0439 | -5 | c.301 others(24): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23320996 | ATAAAT | A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0051a0001c0001t0141a0001c0001t0151others(3): Show | a0001c0001t0051g0259a0001c0001t0141g0210a0001c0001t0151g0135others(3): Show | 6 | 296 | 0.0203 | -5 | c.*54 others(16): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 2960 | chr22 | TogoVar | ||||||
BDH2_chr4_103072592_103104834 | 103102425 | ATGTAT | A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0021a0001c0001t0006g0036a0001c0001t0006g0107others(3): Show | 9 | 382 | 0.0236 | -5 | c.-26 others(16): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 2592 | chr4 | TogoVar | ||||||
BDKRB1_chr14_96251210_96269763 | 96262622 | TTTTTG | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(114): Show |
a0001a0003a0008 | a0001c0001a0001c0008a0001c0015others(2): Show | a0001c0001t0001a0001c0008t0001a0001c0015t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0011others(20): Show | 117 | 444 | 0.2635 | -5 | c.-12 others(20): Show |
BDKRB1 | ENSG00000100739.11 | transcript | ENST00000216629.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDNF_chr11_27649893_27705455 | 27661997 | CTTGTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(179): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0015others(144): Show | 182 | 360 | 0.5056 | -5 | c.-21 others(22): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BDNF_chr11_27649893_27705455 | 27698226 | CAAAAA | C | intron_variant | MODIFIER | HG02004.hp2 HG02895.hp1 HG03579.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0092a0001c0001t0010g0019a0001c0001t0010g0062others(2): Show | 6 | 360 | 0.0167 | -5 | c.-22 others(22): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71473262 | ATTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0002a0005a0010others(18): Show | a0002c0002a0002c0039a0005c0005others(19): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(23): Show | a0002c0002t0001g0132a0002c0002t0001g0135a0002c0002t0001g0136others(97): Show | 101 | 325 | 0.3108 | -5 | c.101 others(24): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71561405 | ATAAAT | A | intron_variant | MODIFIER | HG02155.hp2 NA18989.hp1 NA19055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0088a0001c0001t0002g0089others(2): Show | 6 | 325 | 0.0185 | -5 | c.749 others(22): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 37/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BEND2_chrX_18157931_18225886 | 18169155 | AAAAAT | A | intron_variant | MODIFIER | HG00597.hp1 HG01884.hp2 HG02293.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(2): Show | 5 | 295 | 0.0170 | -5 | c.218 others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 13/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18183181 | TTTCAA | T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 295 | 0.0034 | -5 | c.128 others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18189199 | CAAAAA | C | intron_variant | MODIFIER | HG02280.hp2 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192a0002c0002t0001g0198 | 2 | 295 | 0.0068 | -5 | c.128 others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18193329 | AAAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(93): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(15): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(90): Show | 96 | 295 | 0.3254 | -5 | c.118 others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 7/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18201413 | AAAAAC | A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 295 | 0.0034 | -5 | c.103 others(22): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 6/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18219905 | GAAAAC | G | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02293.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0002c0002t0001a0003c0005t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(3): Show | 6 | 295 | 0.0203 | -5 | c.25+ others(18): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 1/13 | chrX | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107071747 | CAAAAT | C | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG02071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0025a0001c0003t0004a0001c0003t0008others(2): Show | a0001c0001t0025g0132a0001c0001t0025g0300a0001c0003t0004g0005others(13): Show | 17 | 368 | 0.0462 | -5 | c.241 others(20): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107080397 | AAAAAG | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG02071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0058others(4): Show | a0001c0001t0004g0317a0001c0001t0011g0344a0001c0001t0011g0349others(7): Show | 10 | 368 | 0.0272 | -5 | c.241 others(22): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107094072 | CAATTT | C | intron_variant | MODIFIER | NA18949.hp2 NA19058.hp1 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0029 | a0001c0002t0006g0275a0001c0002t0006g0296a0001c0002t0029g0356 | 3 | 368 | 0.0082 | -5 | c.240 others(22): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107103958 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(104): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0001a0001c0001t0002g0021a0001c0001t0002g0114others(102): Show | 107 | 368 | 0.2908 | -5 | c.-11 others(22): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107113449 | AAAAAC | A | intron_variant | MODIFIER | HG01516.hp2 HG03490.hp1 HG04184.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0003g0068a0001c0001t0003g0069a0001c0001t0005g0065others(3): Show | 6 | 368 | 0.0163 | -5 | c.-12 others(22): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
BEND4_chr4_42105853_42157655 | 42148136 | ATTAAT | A | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02145.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0014 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0112a0001c0001t0004g0020a0001c0001t0004g0107others(19): Show | 28 | 226 | 0.1239 | -5 | c.487 others(22): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48729772 | CCGAGA | C | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0105a0001c0001t0001g0151a0001c0001t0001g0170others(2): Show | 5 | 342 | 0.0146 | -5 | c.110 others(24): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
BEND6_chr6_56950107_57032346 | 56989124 | ATATAT | A | intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0075 | 3 | 204 | 0.0147 | -5 | c.121 others(22): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BEND6_chr6_56950107_57032346 | 57005766 | CAATTA | C | intron_variant | MODIFIER | HG01358.hp2 HG02895.hp1 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0001g0088a0001c0001t0002g0068others(4): Show | 7 | 204 | 0.0343 | -5 | c.299 others(22): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BEND6_chr6_56950107_57032346 | 57011770 | GAAAGA | G | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02818.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(6): Show | 9 | 204 | 0.0441 | -5 | c.299 others(22): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BEND7_chr10_13436088_13534014 | 13446702 | TAACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG01346.hp2 others(36): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0039a0001c0001t0001g0089a0001c0001t0001g0093others(36): Show | 39 | 300 | 0.1300 | -5 | c.123 others(22): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
BEND7_chr10_13436088_13534014 | 13455183 | CAACAA | C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(1): Show | 4 | 300 | 0.0133 | -5 | c.106 others(24): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61961013 | GTTCTT | G | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02572.hp2 others(7): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0015 | a0001c0002t0001a0001c0004t0001a0003c0015t0001 | a0001c0002t0001g0145a0001c0002t0001g0148a0001c0002t0001g0150others(7): Show | 10 | 410 | 0.0244 | -5 | c.110 others(22): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BEST3_chr12_69648609_69704303 | 69684981 | GTTCTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(44): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(34): Show | 47 | 366 | 0.1284 | -5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar |