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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAT1_chr12_24805024_24954101 | 24808435 | A | ATTT | downstream_gene_variant | MODIFIER | HG00558.hp1 NA18946.hp2 NA18972.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0051others(1): Show | a0001c0001t0001g0092a0001c0001t0001g0121a0001c0001t0001g0144others(3): Show | 6 | 322 | 0.0186 | 3 | c.*95 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1588 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24835595 | A | ATTT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0020a0001c0001t0041others(2): Show | a0001c0001t0009g0214a0001c0001t0020g0087a0001c0001t0020g0293others(4): Show | 7 | 322 | 0.0217 | 3 | c.903 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24836898 | A | AAAG | intron_variant | MODIFIER | HG01361.hp2 HG01978.hp2 NA18940.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0060a0001c0001t0065others(1): Show | a0001c0001t0003g0074a0001c0001t0003g0080a0001c0001t0003g0134others(6): Show | 9 | 322 | 0.0280 | 3 | c.818 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24836955 | A | AAAG | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00642.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0094a0001c0001t0001g0291a0001c0001t0003g0025others(24): Show | 27 | 322 | 0.0839 | 3 | c.818 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24856618 | C | CAGG | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(12): Show | a0001c0001t0003g0052a0001c0001t0003g0292a0001c0001t0008g0046others(15): Show | 18 | 322 | 0.0559 | 3 | c.511 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24876260 | T | TAAA | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0037a0001c0001t0038others(4): Show | a0001c0001t0028g0021a0001c0001t0037g0107a0001c0001t0037g0254others(5): Show | 8 | 322 | 0.0248 | 3 | c.510 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24884975 | G | GCAA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp2 others(94): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0019a0001c0001t0001g0047a0001c0001t0001g0060others(94): Show | 97 | 322 | 0.3012 | 3 | c.280 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAA | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0003g0052a0001c0001t0003g0292a0001c0001t0008g0046others(4): Show | 7 | 322 | 0.0217 | 3 | c.280 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24888742 | T | TAAG | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0058 | a0001c0001t0030g0085a0001c0001t0030g0295a0001c0001t0058g0289 | 3 | 322 | 0.0093 | 3 | c.279 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTT | intron_variant | MODIFIER | HG00544.hp1 HG02109.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(9): Show | a0001c0001t0003g0212a0001c0001t0003g0292a0001c0001t0008g0046others(10): Show | 13 | 322 | 0.0404 | 3 | c.78+ others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24917195 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG01517.hp2 HG02074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0067a0001c0001t0001g0138a0001c0001t0002g0096others(16): Show | 19 | 322 | 0.0590 | 3 | c.7-1 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24928704 | T | TTTG | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01169.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0068a0001c0001t0001g0091a0001c0001t0002g0106others(16): Show | 19 | 322 | 0.0590 | 3 | c.6+2 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24943493 | G | GAAA | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG01884.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0008others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0001g0068a0001c0001t0001g0091a0001c0001t0001g0138others(26): Show | 29 | 322 | 0.0901 | 3 | c.6+5 others(16): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24951590 | C | CAAA | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01109.hp2 others(28): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0091others(28): Show | 31 | 322 | 0.0963 | 3 | c.-26 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2490 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24952635 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0218a0001c0001t0001g0235a0001c0001t0001g0236others(74): Show | 77 | 322 | 0.2391 | 3 | c.-37 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3535 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48790935 | A | AAAT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00642.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0012others(48): Show | 71 | 408 | 0.1740 | 3 | c.*44 others(14): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 4128 | chr19 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48798791 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01106.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0024a0001c0001t0001g0048others(7): Show | 19 | 408 | 0.0466 | 3 | c.695 others(18): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 6/10 | chr19 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48809066 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00673.hp2 others(60): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0006c0006t0001 | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0026others(45): Show | 63 | 408 | 0.1544 | 3 | c.24+ others(18): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48814202 | A | AAAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(212): Show |
a0001a0004a0006 | a0001c0001a0004c0004a0006c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(138): Show | 215 | 408 | 0.5270 | 3 | c.-31 others(14): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 3174 | chr19 | TogoVar | ||||||
BCCIP_chr10_125818546_125841551 | 125818983 | G | GTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(160): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(59): Show | 163 | 446 | 0.3655 | 3 | c.-45 others(14): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 4562 | chr10 | TogoVar | ||||||
BCCIP_chr10_125818546_125841551 | 125818987 | T | TTTG | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0171 | 9 | 446 | 0.0202 | 3 | c.-45 others(14): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 4558 | chr10 | TogoVar | ||||||
BCCIP_chr10_125818546_125841551 | 125823399 | G | GACT | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 5 | 446 | 0.0112 | 3 | c.-15 others(12): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 146 | chr10 | TogoVar | ||||||
BCDIN3D_chr12_49831043_49848106 | 49834588 | C | CTTT | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02300.hp1 HG03942.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0002g0002a0001c0001t0004g0004a0001c0001t0016g0016others(2): Show | 7 | 420 | 0.0167 | 3 | c.*37 others(14): Show |
BCDIN3D | ENSG00000186666.6 | transcript | ENST00000333924.6 | protein_coding | 1454 | chr12 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797244 | C | CCTT | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG02896.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0184others(2): Show | 5 | 304 | 0.0165 | 3 | c.151 others(24): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797250 | T | TCCC | intron_variant | MODIFIER | HG01074.hp2 HG01256.hp1 HG01258.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0004others(1): Show | a0001c0001t0001g0185a0001c0001t0001g0196a0001c0001t0001g0214others(14): Show | 24 | 304 | 0.0790 | 3 | c.151 others(24): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797255 | T | TCCC | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114a0001c0001t0002g0115a0001c0001t0002g0116others(1): Show | 4 | 304 | 0.0132 | 3 | c.151 others(24): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797259 | T | TCCC | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(107): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0005t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(85): Show | 110 | 304 | 0.3618 | 3 | c.151 others(24): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797306 | C | CCCT | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp1 others(108): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(86): Show | 111 | 304 | 0.3651 | 3 | c.151 others(24): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165821928 | T | TTCA | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01358.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0012a0001c0001t0002g0030a0001c0001t0002g0238others(11): Show | 17 | 304 | 0.0559 | 3 | c.151 others(22): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80115917 | T | TATG | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(202): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(202): Show | 205 | 294 | 0.6973 | 3 | c.196 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80157459 | A | ATTT | intron_variant | MODIFIER | HG02895.hp1 HG03654.hp2 HG03688.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0041a0001c0001t0001g0063others(8): Show | 11 | 294 | 0.0374 | 3 | c.344 others(22): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80220304 | G | GTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(60): Show | 63 | 294 | 0.2143 | 3 | c.951 others(22): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80270317 | T | TCTC | intron_variant | MODIFIER | HG02056.hp2 HG02615.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0038 | a0001c0001t0007g0077a0001c0001t0007g0171a0001c0001t0007g0172others(7): Show | 10 | 294 | 0.0340 | 3 | c.952 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80287468 | A | ATTT | intron_variant | MODIFIER | HG01346.hp2 HG02071.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0015a0001c0001t0019others(4): Show | a0001c0001t0003g0108a0001c0001t0003g0110a0001c0001t0003g0111others(10): Show | 13 | 294 | 0.0442 | 3 | c.103 others(24): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80308579 | T | TTTC | intron_variant | MODIFIER | HG02056.hp2 HG02723.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0012 | a0001c0001t0007g0077a0001c0001t0007g0224a0001c0001t0007g0225others(6): Show | 9 | 294 | 0.0306 | 3 | c.103 others(24): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80332706 | T | TAAA | intron_variant | MODIFIER | HG00423.hp2 HG01175.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0028 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0013others(9): Show | 12 | 294 | 0.0408 | 3 | c.103 others(24): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80342556 | G | GAAA | intron_variant | MODIFIER | HG00673.hp2 HG02135.hp2 HG04184.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0051a0001c0001t0001g0072others(3): Show | 6 | 294 | 0.0204 | 3 | c.103 others(22): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80347003 | G | GAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(76): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0022a0001c0001t0004g0174a0001c0001t0004g0175others(76): Show | 79 | 294 | 0.2687 | 3 | c.*31 others(14): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 734 | chr6 | TogoVar | ||||||
BCKDK_chr16_31103386_31117791 | 31116928 | A | AGGG | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(62): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0005a0001c0002t0001g0008others(3): Show | 65 | 300 | 0.2167 | 3 | c.*46 others(14): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4138 | chr16 | TogoVar | ||||||
BCL10_chr1_85260776_85281632 | 85268768 | C | CAAA | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02451.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0030a0002c0003t0005 | a0001c0001t0001g0010a0001c0001t0001g0065a0001c0001t0001g0085others(2): Show | 11 | 446 | 0.0247 | 3 | c.347 others(18): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467240 | A | ATGG | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01081.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(8): Show | a0001c0001t0003g0149a0001c0001t0007g0092a0001c0001t0007g0095others(20): Show | 24 | 262 | 0.0916 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467264 | G | GTAC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG02074.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0002g0110a0001c0001t0003g0153a0001c0001t0006g0239others(9): Show | 12 | 262 | 0.0458 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467399 | G | GTAC | intron_variant | MODIFIER | HG00735.hp1 HG01943.hp2 HG01952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(5): Show | a0001c0001t0002g0128a0001c0001t0005g0222a0001c0001t0020g0041others(5): Show | 8 | 262 | 0.0305 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467408 | A | ATGG | intron_variant | MODIFIER | HG00735.hp1 HG01943.hp2 HG01952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(3): Show | a0001c0001t0002g0128a0001c0001t0005g0222a0001c0001t0020g0041others(3): Show | 6 | 262 | 0.0229 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467414 | C | CTGG | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(44): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0033a0001c0001t0001g0042a0001c0001t0001g0045others(43): Show | 47 | 262 | 0.1794 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467423 | G | GTAC | intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01975.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0003g0163a0001c0001t0005g0223a0001c0001t0006g0246others(8): Show | 11 | 262 | 0.0420 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467440 | G | GCTA | intron_variant | MODIFIER | HG01261.hp1 HG01934.hp1 HG02004.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0090a0001c0001t0003g0171a0001c0001t0004g0067others(5): Show | 8 | 262 | 0.0305 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467453 | G | GTAC | intron_variant | MODIFIER | HG01261.hp1 HG01934.hp1 HG02004.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0090a0001c0001t0003g0171a0001c0001t0004g0067others(5): Show | 8 | 262 | 0.0305 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467456 | G | GTGA | intron_variant | MODIFIER | HG00323.hp2 HG02129.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0032a0001c0001t0003g0153a0001c0001t0003g0160others(5): Show | 8 | 262 | 0.0305 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467476 | A | AGTG | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0023 | a0001c0001t0002g0130a0001c0001t0013g0248a0001c0001t0023g0203 | 3 | 262 | 0.0115 | 3 | c.487 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar |