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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCLAF3_chrX_19907860_19996061 | 19990142 | GAAAAAAA | G | intron_variant | MODIFIER | HG02074.hp1 NA18989.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0055a0001c0001t0058 | a0001c0001t0011g0104a0001c0001t0011g0105a0001c0001t0055g0106others(1): Show | 4 | 207 | 0.0193 | -7 | c.-35 others(22): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995684 | GGGAGGGA | G | upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0203 | 1 | 207 | 0.0048 | -7 | c.-48 others(18): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4624 | chrX | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81242192 | CTTTTTTT | C | intron_variant | MODIFIER | HG02027.hp1 NA18612.hp1 NA18941.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0147a0001c0001t0001g0178others(8): Show | 13 | 402 | 0.0323 | -7 | c.64+ others(22): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81245849 | CTTTTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp1 HG02080.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0004 | a0001c0002t0001a0001c0005t0001a0002c0004t0001 | a0001c0002t0001g0056a0001c0005t0001g0118a0001c0005t0001g0119others(3): Show | 6 | 402 | 0.0149 | -7 | c.193 others(22): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130022236 | CTTTTTTT | C | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 203 | 0.0049 | -7 | c.360 others(24): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043775 | TATATATA | T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0139 | 1 | 203 | 0.0049 | -7 | c.484 others(26): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043778 | ATATATAT | A | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0111 | 2 | 203 | 0.0099 | -7 | c.484 others(26): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043780 | ATATATTT | A | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 203 | 0.0049 | -7 | c.484 others(26): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130044498 | CTCTTTTT | C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0196 | 1 | 203 | 0.0049 | -7 | c.484 others(26): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130062823 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0009 | a0001c0009t0015 | a0001c0009t0015g0082 | 1 | 203 | 0.0049 | -7 | c.*66 others(18): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 4753 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40080858 | GTGTGTGT | G | intron_variant | MODIFIER | HG01167.hp1 HG02135.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0225a0001c0002t0001g0157 | 2 | 257 | 0.0078 | -7 | c.-40 others(24): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23297204 | GTTGTTTT | G | intron_variant | MODIFIER | HG00609.hp2 HG03209.hp1 NA18906.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0037others(1): Show | a0001c0001t0023a0001c0004t0185a0001c0004t0188others(4): Show | a0001c0001t0023g0235a0001c0001t0023g0237a0001c0004t0185g0022others(5): Show | 8 | 296 | 0.0270 | -7 | c.301 others(26): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23298573 | CTTTCCTT | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(43): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0067a0001c0001t0159a0001c0002t0008others(32): Show | a0001c0001t0067g0105a0001c0001t0159g0287a0001c0002t0008g0112others(41): Show | 46 | 296 | 0.1554 | -7 | c.301 others(26): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BDH2_chr4_103072592_103104834 | 103102343 | ATATTTTT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(52): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0031a0001c0001t0001g0048a0001c0001t0001g0053others(24): Show | 55 | 382 | 0.1440 | -7 | c.-25 others(18): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 2510 | chr4 | TogoVar | ||||||
BDNF_chr11_27649893_27705455 | 27698226 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00735.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0003g0089a0001c0001t0003g0090a0001c0001t0003g0091others(21): Show | 35 | 360 | 0.0972 | -7 | c.-22 others(24): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71473262 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(124): Show |
a0001a0004a0006others(10): Show | a0001c0001a0001c0021a0001c0022others(17): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(22): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0014others(122): Show | 127 | 325 | 0.3908 | -7 | c.101 others(26): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71567532 | AAGTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 HG03225.hp2 HG03579.hp1 others(1): Show |
a0009 | a0009c0008 | a0009c0008t0007 | a0009c0008t0007g0095a0009c0008t0007g0096a0009c0008t0007g0097others(1): Show | 4 | 325 | 0.0123 | -7 | c.*26 others(18): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 39/39 | 2649 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
BECN1_chr17_42805134_42829282 | 42808553 | TAAAAAAA | T | downstream_gene_variant | MODIFIER | HG01934.hp2 HG01978.hp1 NA18953.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0013others(3): Show | 14 | 274 | 0.0511 | -7 | c.*22 others(18): Show |
BECN1 | ENSG00000126581.13 | transcript | ENST00000590099.6 | protein_coding | 1580 | chr17 | TogoVar | ||||||
BEND4_chr4_42105853_42157655 | 42142465 | ATATATAT | A | intron_variant | MODIFIER | HG02896.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0011 | 2 | 226 | 0.0089 | -7 | c.105 others(24): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
BEX2_chrX_103304346_103315990 | 103315714 | TGTATTTA | T | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 308 | 0.0033 | -7 | c.-49 others(18): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 4725 | chrX | TogoVar | ||||||
BEX3_chrX_103371538_103383164 | 103375602 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01975.hp1 HG02109.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008 | 9 | 298 | 0.0302 | -7 | c.-11 others(18): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 935 | chrX | TogoVar | ||||||
BEX4_chrX_103210108_103222246 | 103212982 | TTTGTGTG | T | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 334 | 0.0030 | -7 | c.-23 others(18): Show |
BEX4 | ENSG00000102409.10 | transcript | ENST00000372695.6 | protein_coding | 2125 | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153496948 | GCCCACCC | G | intron_variant | MODIFIER | HG00735.hp2 HG02622.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0062a0001c0003t0008a0001c0003t0058others(2): Show | a0001c0001t0062g0200a0001c0003t0008g0068a0001c0003t0058g0197others(2): Show | 5 | 321 | 0.0156 | -7 | c.-12 others(24): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BHMT_chr5_79106809_79137288 | 79136559 | ACCCAGTC | A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0051a0001c0001t0001g0172others(2): Show | 5 | 432 | 0.0116 | -7 | c.*54 others(18): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4272 | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79137077 | TTATATAC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0053others(8): Show | 20 | 432 | 0.0463 | -7 | c.*59 others(18): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4790 | chr5 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58530684 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02976.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0007a0002c0002t0009a0002c0002t0010others(3): Show | a0001c0001t0007g0122a0002c0002t0009g0119a0002c0002t0010g0121others(4): Show | 7 | 132 | 0.0530 | -7 | c.190 others(26): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58555306 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp1 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(23): Show | a0001c0001t0002g0034a0001c0001t0002g0041a0001c0001t0002g0054others(43): Show | 46 | 132 | 0.3485 | -7 | c.190 others(26): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58673965 | AAGCTAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(113): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0068a0001c0001t0001g0073a0001c0001t0001g0075others(113): Show | 116 | 132 | 0.8788 | -7 | c.238 others(26): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58831507 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02486.hp1 HG02717.hp1 others(3): Show |
a0002a0004 | a0002c0003a0002c0006a0004c0005 | a0002c0003t0009a0002c0003t0016a0002c0006t0039others(1): Show | a0002c0003t0009g0104a0002c0003t0009g0117a0002c0003t0016g0061others(3): Show | 6 | 132 | 0.0455 | -7 | c.*26 others(18): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 73 | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32177806 | TATATAAA | T | intron_variant | MODIFIER | HG01106.hp2 HG02040.hp1 HG02602.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0188a0001c0001t0001g0193a0001c0001t0003g0187others(12): Show | 15 | 290 | 0.0517 | -7 | c.214 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32191613 | GTATATAA | G | intron_variant | MODIFIER | HG01106.hp2 HG02004.hp2 HG02015.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0193a0001c0001t0003g0187a0001c0001t0004g0032others(13): Show | 16 | 290 | 0.0552 | -7 | c.214 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32238944 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0061a0001c0005t0012 | a0001c0001t0006g0152a0001c0001t0006g0153a0001c0001t0006g0156others(4): Show | 7 | 290 | 0.0241 | -7 | c.426 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32251848 | TCTTTTTA | T | intron_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG02015.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(9): Show | a0001c0001t0003g0246a0001c0001t0007g0146a0001c0001t0011g0269others(25): Show | 28 | 290 | 0.0966 | -7 | c.426 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32256902 | AATTTCTT | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0017a0001c0001t0061others(1): Show | a0001c0001t0006g0152a0001c0001t0006g0153a0001c0001t0006g0156others(5): Show | 8 | 290 | 0.0276 | -7 | c.427 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32316135 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(164): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0038a0001c0001t0001g0049a0001c0001t0001g0059others(164): Show | 167 | 290 | 0.5759 | -7 | c.100 others(28): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD2_chr9_92706363_92769833 | 92725663 | CTCCCCTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01496.hp1 HG01515.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0085a0001c0001t0001g0097a0001c0001t0001g0098others(5): Show | 8 | 360 | 0.0222 | -7 | c.454 others(24): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42793122 | ATTTTTTT | A | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00642.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0012a0001c0001t0001g0038a0001c0001t0001g0041others(51): Show | 54 | 270 | 0.2000 | -7 | c.-10 others(28): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42824249 | AAATAAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(99): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0123others(99): Show | 102 | 270 | 0.3778 | -7 | c.159 others(24): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT | G | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG01081.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0148a0001c0001t0001g0158a0001c0001t0001g0167others(10): Show | 13 | 270 | 0.0482 | -7 | c.184 others(26): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42863380 | CAAGCCTG | C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0123a0001c0001t0001g0135a0001c0001t0001g0138others(36): Show | 39 | 270 | 0.1444 | -7 | c.245 others(24): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 12/12 | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47615590 | GTTCATAT | G | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01070.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0003t0006a0001c0008t0006others(4): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0102others(23): Show | 26 | 312 | 0.0833 | -7 | c.-10 others(26): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47659731 | CACGTTCT | C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG02976.hp1 others(5): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0006others(2): Show | a0001c0001t0001g0179a0001c0001t0001g0262a0001c0001t0001g0285others(5): Show | 8 | 312 | 0.0256 | -7 | c.-10 others(28): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17742470 | TCCCCCCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(63): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019others(60): Show | 66 | 362 | 0.1823 | -7 | c.223 others(24): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17756425 | TTTCTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0026a0001c0001t0001g0065a0001c0001t0001g0069others(21): Show | 24 | 362 | 0.0663 | -7 | c.-58 others(24): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127107556 | CGCCCGGT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(238): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0016others(228): Show | 241 | 344 | 0.7006 | -7 | c.-62 others(16): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 403 | chr2 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22619565 | GGCAGTCC | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00733.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0009a0001c0011others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0004g0014a0001c0001t0004g0208a0001c0001t0004g0209others(45): Show | 51 | 386 | 0.1321 | -7 | c.*18 others(18): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 852 | chr8 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32354830 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009a0001c0012 | a0001c0001t0001a0001c0009t0001a0001c0012t0003 | a0001c0001t0001g0056a0001c0001t0001g0196a0001c0001t0001g0197others(7): Show | 10 | 274 | 0.0365 | -7 | c.-23 others(18): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 2192 | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369946 | ATATATAT | A | intron_variant | MODIFIER | HG01496.hp1 HG02015.hp1 HG02280.hp1 others(9): Show |
a0001a0002a0007others(1): Show | a0001c0009a0001c0011a0001c0021others(4): Show | a0001c0009t0001a0001c0011t0001a0001c0021t0002others(4): Show | a0001c0009t0001g0027a0001c0011t0001g0203a0001c0011t0001g0208others(9): Show | 12 | 274 | 0.0438 | -7 | c.326 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32430805 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0009 | a0001c0003t0003g0032a0001c0003t0003g0033a0001c0003t0003g0034others(2): Show | 5 | 274 | 0.0183 | -7 | c.302 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 11/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460272 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0004a0001c0007t0007 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0007t0004g0018others(4): Show | 7 | 274 | 0.0256 | -7 | c.475 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |