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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCKDHA_chr19_41392818_41430002 | 41399331 | CTT | C | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01516.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(3): Show | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0110others(11): Show | 18 | 374 | 0.0481 | -2 | c.108 others(19): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHA_chr19_41392818_41430002 | 41409798 | ATT | A | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0246a0001c0004t0001g0103a0001c0006t0001g0114others(10): Show | 15 | 374 | 0.0401 | -2 | c.109 others(17): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHA_chr19_41392818_41430002 | 41412380 | CTT | C | intron_variant | MODIFIER | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0004a0001c0016 | a0001c0004t0001a0001c0004t0002a0001c0016t0001 | a0001c0004t0001g0008a0001c0004t0001g0103a0001c0004t0001g0106others(2): Show | 9 | 374 | 0.0241 | -2 | c.375 others(19): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHA_chr19_41392818_41430002 | 41418091 | CAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02074.hp1 others(14): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0004t0002a0001c0007t0001others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0110a0001c0001t0001g0112others(12): Show | 17 | 374 | 0.0455 | -2 | c.485 others(19): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHA_chr19_41392818_41430002 | 41419746 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(66): Show |
a0001a0004 | a0001c0002a0001c0015a0004c0013 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0005a0001c0002t0001g0009others(39): Show | 69 | 374 | 0.1845 | -2 | c.646 others(17): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHA_chr19_41392818_41430002 | 41420168 | ACT | A | intron_variant | MODIFIER | HG02027.hp1 HG02165.hp2 NA18940.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0127a0001c0001t0001g0128others(6): Show | 10 | 374 | 0.0267 | -2 | c.646 others(17): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80107421 | GTA | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(30): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(30): Show | 33 | 294 | 0.1122 | -2 | c.196 others(17): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80107423 | ATG | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02071.hp2 others(28): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0002g0219a0001c0001t0003g0108a0001c0001t0003g0110others(28): Show | 31 | 294 | 0.1054 | -2 | c.196 others(17): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80107514 | CAT | C | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02922.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0287a0001c0001t0002g0288a0001c0001t0002g0289others(10): Show | 13 | 294 | 0.0442 | -2 | c.196 others(17): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80128872 | CTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG01074.hp2 others(49): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(49): Show | 52 | 294 | 0.1769 | -2 | c.275 others(17): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80150550 | CTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0019a0001c0001t0023others(1): Show | a0001c0001t0003g0108a0001c0001t0003g0110a0001c0001t0003g0111others(4): Show | 7 | 294 | 0.0238 | -2 | c.344 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80163311 | CTT | C | intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01081.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0159a0001c0001t0001g0163a0001c0001t0001g0164others(16): Show | 19 | 294 | 0.0646 | -2 | c.344 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80164292 | GAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(86): Show | 89 | 294 | 0.3027 | -2 | c.344 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80177225 | CAA | C | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG02071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0167a0001c0001t0002g0097a0001c0001t0008g0157others(6): Show | 9 | 294 | 0.0306 | -2 | c.742 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80199771 | CAA | C | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02056.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0024others(6): Show | 9 | 294 | 0.0306 | -2 | c.743 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80204665 | ATC | A | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0129a0001c0001t0012g0130a0001c0001t0012g0131 | 3 | 294 | 0.0102 | -2 | c.951 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80204667 | CTA | C | intron_variant | MODIFIER | HG02615.hp1 HG02970.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151a0001c0001t0002g0152a0001c0001t0002g0153others(1): Show | 4 | 294 | 0.0136 | -2 | c.951 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80205791 | GGT | G | intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01258.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0018a0001c0001t0001g0061a0001c0001t0002g0219others(26): Show | 29 | 294 | 0.0986 | -2 | c.951 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80205835 | TAG | T | intron_variant | MODIFIER | HG01891.hp2 HG02818.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0001t0008a0001c0005t0017 | a0001c0001t0007g0172a0001c0001t0008g0160a0001c0005t0017g0166 | 3 | 294 | 0.0102 | -2 | c.951 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80210135 | CAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(79): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0031a0001c0001t0001g0041others(79): Show | 82 | 294 | 0.2789 | -2 | c.951 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80220405 | GTT | G | intron_variant | MODIFIER | HG02071.hp2 HG02622.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0019others(2): Show | a0001c0001t0003g0108a0001c0001t0003g0110a0001c0001t0003g0111others(7): Show | 10 | 294 | 0.0340 | -2 | c.951 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80230024 | TTG | T | intron_variant | MODIFIER | HG00609.hp1 HG02630.hp2 HG02717.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0013a0002c0002t0004 | a0001c0001t0004g0175a0001c0001t0004g0176a0001c0001t0004g0177others(9): Show | 12 | 294 | 0.0408 | -2 | c.951 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80230026 | GTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(88): Show | 91 | 294 | 0.3095 | -2 | c.951 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80232723 | GAT | G | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0171a0001c0001t0007g0172a0001c0001t0007g0173 | 3 | 294 | 0.0102 | -2 | c.951 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80237053 | TGA | T | intron_variant | MODIFIER | HG01346.hp2 HG03225.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0030 | a0001c0001t0003g0149a0001c0001t0015g0150a0001c0001t0030g0155 | 3 | 294 | 0.0102 | -2 | c.951 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80248902 | ATG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(192): Show | 195 | 294 | 0.6633 | -2 | c.952 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80249062 | ACC | A | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0129a0001c0001t0012g0130a0001c0001t0012g0131 | 3 | 294 | 0.0102 | -2 | c.952 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80255844 | TAA | T | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0100a0001c0001t0009g0101a0001c0001t0009g0102 | 3 | 294 | 0.0102 | -2 | c.952 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80257340 | TAC | T | intron_variant | MODIFIER | HG02071.hp2 HG02622.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0019a0001c0001t0023others(1): Show | a0001c0001t0003g0108a0001c0001t0003g0110a0001c0001t0003g0111others(4): Show | 7 | 294 | 0.0238 | -2 | c.952 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80257433 | CAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(143): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0229a0001c0001t0002g0076a0001c0001t0002g0097others(143): Show | 146 | 294 | 0.4966 | -2 | c.952 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80281048 | GTA | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(61): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0004g0141a0001c0001t0004g0142a0001c0001t0004g0143others(61): Show | 64 | 294 | 0.2177 | -2 | c.103 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80285520 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(208): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(208): Show | 211 | 294 | 0.7177 | -2 | c.103 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80312939 | CAT | C | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp1 HG02071.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0014others(5): Show | a0001c0001t0003g0118a0001c0001t0003g0149a0001c0001t0011g0092others(10): Show | 13 | 294 | 0.0442 | -2 | c.103 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80330723 | CTG | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(195): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(195): Show | 198 | 294 | 0.6735 | -2 | c.103 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80332926 | GAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(195): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(195): Show | 198 | 294 | 0.6735 | -2 | c.103 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80334637 | TAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(188): Show | 191 | 294 | 0.6497 | -2 | c.103 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80342578 | AAG | A | intron_variant | MODIFIER | HG02071.hp2 HG02622.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0019a0001c0001t0023others(1): Show | a0001c0001t0003g0110a0001c0001t0003g0111a0001c0001t0003g0112others(4): Show | 7 | 294 | 0.0238 | -2 | c.103 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80344348 | ATT | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(183): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(183): Show | 186 | 294 | 0.6327 | -2 | c.*55 others(11): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 10/10 | 559 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
BCKDHB_chr6_80101671_80351270 | 80347013 | AAG | A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02818.hp2 HG02886.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0010a0001c0001t0011a0001c0001t0018others(2): Show | a0001c0001t0010g0080a0001c0001t0010g0087a0001c0001t0010g0088others(5): Show | 8 | 294 | 0.0272 | -2 | c.*32 others(13): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 744 | chr6 | TogoVar | ||||||
BCKDK_chr16_31103386_31117791 | 31116767 | AAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(148): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(8): Show | 151 | 300 | 0.5033 | -2 | c.*45 others(13): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 3977 | chr16 | TogoVar | ||||||
BCL10_chr1_85260776_85281632 | 85265051 | CAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0061a0001c0001t0002g0004a0001c0001t0002g0005others(21): Show | 71 | 446 | 0.1592 | -2 | c.*25 others(13): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 724 | chr1 | TogoVar | ||||||
BCL10_chr1_85260776_85281632 | 85277899 | AAC | A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00639.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0002g0004a0001c0001t0004g0002a0001c0001t0004g0016others(12): Show | 61 | 446 | 0.1368 | -2 | c.-15 others(13): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 1268 | chr1 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60492615 | CCT | C | intron_variant | MODIFIER | HG02083.hp1 NA18983.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0012g0213 | 3 | 262 | 0.0115 | -2 | c.386 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60501505 | CTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02083.hp2 HG02258.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0029others(14): Show | 17 | 262 | 0.0649 | -2 | c.386 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507223 | GAA | G | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01884.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0003g0183others(24): Show | 27 | 262 | 0.1031 | -2 | c.386 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507340 | AAG | A | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp1 HG01258.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0021a0001c0001t0001g0031a0001c0001t0003g0152others(16): Show | 19 | 262 | 0.0725 | -2 | c.386 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507350 | AAG | A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01361.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0031a0001c0001t0003g0152a0001c0001t0004g0078others(4): Show | 7 | 262 | 0.0267 | -2 | c.386 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507360 | AAG | A | intron_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01258.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0001t0001g0039others(12): Show | 15 | 262 | 0.0573 | -2 | c.386 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507370 | AAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01256.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0021a0001c0001t0001g0031a0001c0001t0001g0038others(23): Show | 26 | 262 | 0.0992 | -2 | c.386 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60521067 | GCA | G | intron_variant | MODIFIER | HG00280.hp1 HG02486.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0006a0001c0001t0013a0001c0001t0019others(4): Show | a0001c0001t0006g0239a0001c0001t0013g0253a0001c0001t0019g0012others(4): Show | 7 | 262 | 0.0267 | -2 | c.385 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar |