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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BABAM2_chr2_27885729_28343901 | 28248207 | C | CTTTTTCT others(9): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 158 | 0.0063 | 16 | c.934 others(33): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BACE2_chr21_41163160_41287530 | 41174138 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0268a0001c0001t0002g0007a0001c0001t0003g0060others(16): Show | 19 | 272 | 0.0699 | 16 | c.312 others(33): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89959097 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 194 | 0.0052 | 16 | c.244 others(33): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90065270 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03098.hp2 HG03239.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0045a0001c0001t0112a0001c0001t0130others(4): Show | a0001c0001t0045g0058a0001c0001t0112g0117a0001c0001t0130g0183others(4): Show | 7 | 194 | 0.0361 | 16 | c.-13 others(35): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90092280 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02896.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0020a0001c0001t0086a0001c0002t0007others(4): Show | a0001c0001t0020g0089a0001c0001t0086g0024a0001c0002t0007g0030others(4): Show | 7 | 194 | 0.0361 | 16 | c.-16 others(35): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90100710 | C | CATACACA others(9): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0025 | 1 | 194 | 0.0052 | 16 | c.-16 others(37): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03098.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0051a0001c0004t0047a0001c0004t0060others(1): Show | a0001c0001t0051g0150a0001c0004t0047g0151a0001c0004t0060g0149others(1): Show | 4 | 194 | 0.0206 | 16 | c.-16 others(37): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
BAD_chr11_64264830_64289665 | 64271087 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0121others(30): Show | 33 | 388 | 0.0851 | 16 | c.378 others(31): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
BAD_chr11_64264830_64289665 | 64276298 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(76): Show | 91 | 388 | 0.2345 | 16 | c.188 others(33): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675761 | T | TTCCTTCC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(149): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0232a0001c0001t0003g0026a0001c0001t0003g0117others(116): Show | 152 | 420 | 0.3619 | 16 | c.910 others(31): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BAG3_chr10_119646380_119682819 | 119675919 | T | TCCTTCCC others(9): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 420 | 0.0024 | 16 | c.910 others(31): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BAG3_chr10_119646380_119682819 | 119675919 | T | TCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03225.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0006 | a0001c0002t0001g0190a0001c0007t0006g0214 | 2 | 420 | 0.0048 | 16 | c.910 others(31): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BAG4_chr8_38171855_38218301 | 38180522 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 306 | 0.0033 | 16 | c.270 others(33): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAG4_chr8_38171855_38218301 | 38214271 | C | CTCTCTCT others(9): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 306 | 0.0033 | 16 | c.*37 others(27): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 971 | chr8 | TogoVar | ||||||
BAG6_chr6_31634028_31657661 | 31652320 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0266 | 2 | 427 | 0.0047 | 16 | c.-14 others(30): Show |
BAG6 | ENSG00000204463.14 | transcript | ENST00000676615.2 | protein_coding | 1/25 | chr6 | TogoVar | ||||||
BAG6_chr6_31634028_31657661 | 31652357 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 427 | 0.0023 | 16 | c.-14 others(29): Show |
BAG6 | ENSG00000204463.14 | transcript | ENST00000676615.2 | protein_coding | 1/25 | chr6 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81411474 | C | CCCTGCCT others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02738.hp1 |
a0001a0003 | a0001c0003a0003c0002 | a0001c0003t0003a0003c0002t0004 | a0001c0003t0003g0293a0003c0002t0004g0194 | 2 | 332 | 0.0060 | 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 | 81411514 | G | GCCTGCCT others(9): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0029 | a0029c0070 | a0029c0070t0003 | a0029c0070t0003g0116 | 1 | 332 | 0.0030 | 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 | 81411514 | G | GCCTGCCT others(9): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0208 | 1 | 332 | 0.0030 | 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 | 81418797 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0017 | a0017c0023 | a0017c0023t0038 | a0017c0023t0038g0027 | 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 | 81418811 | G | GCATGTGT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG03130.hp1 |
a0001a0013a0017 | a0001c0007a0013c0097a0017c0023 | a0001c0007t0009a0013c0097t0001a0017c0023t0015 | a0001c0007t0009g0260a0013c0097t0001g0235a0017c0023t0015g0277 | 3 | 332 | 0.0090 | 16 | c.179 others(33): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81418958 | C | CTGTGCAA others(9): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0017 | a0017c0023 | a0017c0023t0038 | a0017c0023t0038g0027 | 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 | 81446526 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0007 | a0001c0007t0016 | a0001c0007t0016g0161 | 1 | 332 | 0.0030 | 16 | c.316 others(33): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAATA others(9): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0279 | 1 | 298 | 0.0034 | 16 | c.128 others(33): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98370720 | C | CCACCATG others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03486.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0086a0001c0002t0002g0087a0001c0002t0002g0088 | 3 | 298 | 0.0101 | 16 | c.52- others(31): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98392791 | A | ATTTACAC others(9): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 298 | 0.0034 | 16 | c.51+ others(31): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98393147 | A | ATATATGT others(9): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0083 | 1 | 298 | 0.0034 | 16 | c.51+ others(31): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98394242 | A | AAAACAAA others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(86): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0015others(3): Show | a0001c0001t0001g0161a0001c0001t0001g0175a0001c0001t0001g0181others(86): Show | 89 | 298 | 0.2987 | 16 | c.51+ others(31): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98405344 | G | GCTTGCTT others(9): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 298 | 0.0034 | 16 | c.-44 others(27): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4255 | chr7 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81055574 | G | GTTTTTTG others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0263 | 1 | 376 | 0.0027 | 16 | c.130 others(33): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81056794 | C | CTTCTGCT others(9): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01891.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(2): Show | a0001c0001t0001g0234a0001c0001t0001g0235a0001c0001t0001g0236others(8): Show | 11 | 376 | 0.0293 | 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 | 81089578 | T | TCTCAGGT others(9): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0130 | 1 | 376 | 0.0027 | 16 | c.489 others(33): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81102141 | T | TCCCACAG others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(67): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0150a0001c0001t0002g0024a0001c0001t0002g0025others(67): Show | 70 | 376 | 0.1862 | 16 | c.643 others(33): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81119229 | T | TGGGGCCG others(9): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG03098.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0016a0001c0001t0040others(2): Show | a0001c0001t0007g0333a0001c0001t0016g0302a0001c0001t0040g0283others(6): Show | 9 | 376 | 0.0239 | 16 | c.*33 others(27): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 1796 | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81119342 | C | CCGCGTGC others(9): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(290): Show | 294 | 376 | 0.7819 | 16 | c.*35 others(27): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 1909 | chr17 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101803997 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0240 | 1 | 284 | 0.0035 | 16 | c.70+ others(33): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101947309 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18948.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0087a0001c0001t0001g0214 | 3 | 284 | 0.0106 | 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 | 101986873 | A | ATATGTAT others(9): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0081 | 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 | 101986897 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02027.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0152a0001c0002t0001g0284a0001c0002t0002g0204others(1): Show | 4 | 284 | 0.0141 | 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 | 101986899 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 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 | 101986899 | G | GTGTATAT others(9): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0134 | 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 | 101986899 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA19030.hp2 NA19043.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0017a0001c0012t0001g0018 | 2 | 284 | 0.0070 | 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 | 101986899 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03471.hp2 |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0001a0005c0006t0001 | a0001c0002t0001g0161a0005c0006t0001g0280 | 2 | 284 | 0.0070 | 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 | 88019588 | C | CGGCGTGC others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02280.hp2 others(14): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0001a0001c0007t0005a0001c0008t0001others(6): Show | a0001c0001t0001g0197a0001c0001t0001g0236a0001c0007t0005g0088others(14): Show | 17 | 352 | 0.0483 | 16 | c.895 others(31): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 88076346 | G | GGGGGCGG others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(97): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(9): Show | a0001c0001t0001g0091a0001c0001t0001g0106a0001c0001t0001g0174others(97): Show | 100 | 352 | 0.2841 | 16 | c.152 others(33): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BARD1_chr2_214720646_214814683 | 214751117 | G | GTGTGTAT others(9): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0004 | a0004c0010 | a0004c0010t0008 | a0004c0010t0008g0003 | 2 | 362 | 0.0055 | 16 | c.167 others(35): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214751117 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0007 | a0004c0007t0008 | a0004c0007t0008g0031 | 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 | 214771943 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 |
a0001 | a0001c0004 | a0001c0004t0011a0001c0004t0014 | a0001c0004t0011g0121a0001c0004t0014g0122 | 2 | 362 | 0.0055 | 16 | c.131 others(35): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
BARHL1_chr9_132577606_132595252 | 132584121 | A | AGAAGGAA others(9): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 472 | 0.0021 | 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 | 90709236 | G | GAAGAAAG others(9): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(47): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(21): Show | 50 | 446 | 0.1121 | 16 | c.*30 others(27): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2302 | chr1 | TogoVar |