view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAS3_chr17_60672851_61397831 | 61206801 | CAAA | C | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG02451.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0060 others(18): Show |
21 | 74 | 0.2838 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61213512 | CTTA | C | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp2 NA21309.hp2 |
a0001a0002a0003 | a0001c0002a0002c0005a0003c0001 | a0001c0002t0002a0002c0005t0001a0003c0001t0001 | a0001c0002t0002g0070 a0002c0005t0001g0014 a0003c0001t0001g0007 |
3 | 74 | 0.0405 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61232069 | ATGG | A | intron_variant | MODIFIER | HG01099.hp1 HG02486.hp1 HG02615.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0002g0053 others(10): Show |
13 | 74 | 0.1757 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61234783 | GAAA | G | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG01952.hp1 others(13): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0004t0001a0002c0003t0001others(6): Show | a0001c0002t0001g0059 a0001c0004t0001g0043 a0002c0003t0001g0040 others(13): Show |
16 | 74 | 0.2162 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61267617 | ATCC | A | intron_variant | MODIFIER | HG01952.hp2 HG03098.hp2 HG03209.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0002t0002g0057 a0001c0004t0001g0058 a0001c0004t0002g0035 others(3): Show |
6 | 74 | 0.0811 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61270112 | ATTT | A | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02809.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0005others(2): Show | a0001c0002t0002a0002c0003t0003a0002c0005t0001others(3): Show | a0001c0002t0002g0054 a0001c0002t0002g0069 a0002c0003t0003g0013 others(6): Show |
9 | 74 | 0.1216 | -3 | c.242 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61272636 | CAAA | C | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp2 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0002t0001g0071 a0001c0002t0002g0070 a0001c0004t0001g0045 others(1): Show |
4 | 74 | 0.0541 | -3 | c.242 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61338887 | GGAA | G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02486.hp1 |
a0001a0002 | a0001c0002a0002c0003a0002c0007 | a0001c0002t0001a0002c0003t0002a0002c0007t0001 | a0001c0002t0001g0059 a0002c0003t0002g0039 a0002c0007t0001g0004 |
3 | 74 | 0.0405 | -3 | c.242 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61350634 | CTTT | C | intron_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG02451.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(7): Show | a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0002g0064 others(13): Show |
16 | 74 | 0.2162 | -3 | c.242 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61373805 | TTTG | T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0002others(2): Show | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0067 others(5): Show |
8 | 74 | 0.1081 | -3 | c.259 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61386796 | GTTT | G | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02559.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0007others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(3): Show | a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0002g0053 others(5): Show |
8 | 74 | 0.1081 | -3 | c.259 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796478 | TATA | T | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG00741.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 others(11): Show |
14 | 270 | 0.0519 | -3 | c.90+ others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
BCAS4_chr20_50790061_50882177 | 50796480 | TATA | T | intron_variant | MODIFIER | HG01496.hp1 HG01943.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0003 | a0001c0001t0002g0232 a0002c0002t0001g0055 a0002c0002t0001g0056 others(2): Show |
5 | 270 | 0.0185 | -3 | c.90+ others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
BCAS4_chr20_50790061_50882177 | 50796482 | TATA | T | intron_variant | MODIFIER | HG01167.hp2 HG02451.hp1 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0003t0001g0208 others(2): Show |
5 | 270 | 0.0185 | -3 | c.90+ others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
BCAS4_chr20_50790061_50882177 | 50800559 | CTTT | C | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0003g0065 others(2): Show |
5 | 270 | 0.0185 | -3 | c.90+ others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50806862 | CTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG01891.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(5): Show | a0001c0001t0002g0017 a0001c0001t0002g0270 a0001c0004t0001g0011 others(9): Show |
12 | 270 | 0.0444 | -3 | c.91- others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50816791 | ATTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp1 others(61): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0198 others(61): Show |
64 | 270 | 0.2370 | -3 | c.91- others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50846607 | CTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01433.hp2 HG01981.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0089 a0001c0001t0001g0168 a0001c0001t0003g0219 others(8): Show |
11 | 270 | 0.0407 | -3 | c.399 others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50872578 | GAAC | G | intron_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0001g0179 a0001c0001t0004g0040 a0001c0001t0004g0098 others(8): Show |
11 | 270 | 0.0407 | -3 | c.400 others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50875602 | TAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01106.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0004t0003others(2): Show | a0001c0001t0003g0002 a0001c0001t0003g0065 a0001c0001t0003g0073 others(35): Show |
38 | 270 | 0.1407 | -3 | c.400 others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24808435 | ATTT | A | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01257.hp2 HG01496.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(18): Show | a0001c0001t0002g0207 a0001c0001t0003g0242 a0001c0001t0014g0200 others(29): Show |
32 | 322 | 0.0994 | -3 | c.*95 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1588 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24808759 | CTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(113): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0004c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(113): Show |
116 | 322 | 0.3603 | -3 | c.*92 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1264 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24814802 | GTTT | G | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0020a0001c0001t0068others(3): Show | a0001c0001t0011g0029 a0001c0001t0011g0030 a0001c0001t0011g0039 others(9): Show |
12 | 322 | 0.0373 | -3 | c.*32 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 11/11 | 3203 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24825463 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(248): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(105): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(248): Show |
251 | 322 | 0.7795 | -3 | c.111 others(22): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24831918 | AGAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01069.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(9): Show | a0001c0001t0002g0233 a0001c0001t0011g0029 a0001c0001t0011g0030 others(14): Show |
17 | 322 | 0.0528 | -3 | c.104 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24835556 | TTTA | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015a0001c0001t0042others(1): Show | a0001c0001t0006g0187 a0001c0001t0015g0026 a0001c0001t0015g0028 others(2): Show |
5 | 322 | 0.0155 | -3 | c.903 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24878466 | AAAC | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0071 | a0001c0001t0020g0087 a0001c0001t0020g0293 a0001c0001t0020g0294 others(1): Show |
4 | 322 | 0.0124 | -3 | c.510 others(16): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887081 | ATAT | A | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0058 | a0001c0001t0030g0085 a0001c0001t0030g0295 a0001c0001t0058g0289 |
3 | 322 | 0.0093 | -3 | c.280 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24899835 | TAAA | T | intron_variant | MODIFIER | HG01169.hp1 HG01517.hp1 HG01884.hp1 others(19): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(12): Show | a0001c0001t0001g0291 a0001c0001t0002g0106 a0001c0001t0002g0259 others(19): Show |
22 | 322 | 0.0683 | -3 | c.78+ others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24928704 | TTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(80): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0060 others(80): Show |
83 | 322 | 0.2578 | -3 | c.6+2 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24930896 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00621.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0165 others(73): Show |
76 | 322 | 0.2360 | -3 | c.6+1 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24933109 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0121 a0001c0001t0001g0167 a0001c0001t0001g0188 others(26): Show |
29 | 322 | 0.0901 | -3 | c.6+1 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24952296 | TAAA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(87): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0218 a0001c0001t0001g0235 a0001c0001t0001g0236 others(87): Show |
90 | 322 | 0.2795 | -3 | c.-33 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3196 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48802441 | CTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01081.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0091 others(5): Show |
20 | 408 | 0.0490 | -3 | c.301 others(20): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 3/10 | chr19 | TogoVar | |||||||
BCDIN3D_chr12_49831043_49848106 | 49846485 | CTTT | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0002g0002 a0001c0001t0004g0004 a0001c0001t0009g0009 others(9): Show |
45 | 420 | 0.1071 | -3 | c.-34 others(14): Show |
BCDIN3D | ENSG00000186666.6 | transcript | ENST00000333924.6 | protein_coding | 3380 | chr12 | TogoVar | |||||||
BCHE_chr3_165767904_165842423 | 165773741 | ATAT | A | intron_variant | MODIFIER | HG01433.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0226 others(2): Show |
5 | 304 | 0.0165 | -3 | c.168 others(20): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
BCHE_chr3_165767904_165842423 | 165777354 | AAAT | A | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp2 others(56): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0004others(1): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0008others(4): Show | a0002c0002t0002g0004 a0002c0002t0002g0015 a0002c0002t0002g0017 others(45): Show |
59 | 304 | 0.1941 | -3 | c.168 others(22): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
BCHE_chr3_165767904_165842423 | 165840333 | TAGA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00642.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(40): Show |
53 | 304 | 0.1743 | -3 | c.-30 others(14): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2911 | chr3 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41396617 | CTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02280.hp1 others(10): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0169 a0001c0001t0001g0246 a0001c0001t0001g0253 others(9): Show |
13 | 374 | 0.0348 | -3 | c.-12 others(14): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1200 | chr19 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41397727 | TTTC | T | upstream_gene_variant | MODIFIER | HG02523.hp2 NA18947.hp2 NA18999.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 a0001c0001t0003g0150 a0001c0001t0003g0151 others(2): Show |
5 | 374 | 0.0134 | -3 | c.-10 others(11): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 90 | chr19 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41407950 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(57): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0125 others(47): Show |
60 | 374 | 0.1604 | -3 | c.109 others(20): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41408541 | TCTC | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001a0001c0006t0002 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(8): Show |
13 | 374 | 0.0348 | -3 | c.109 others(20): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41409798 | ATTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0004a0001c0014 | a0001c0004t0001a0001c0004t0002a0001c0014t0001 | a0001c0004t0001g0008 a0001c0004t0001g0106 a0001c0004t0002g0105 others(1): Show |
8 | 374 | 0.0214 | -3 | c.109 others(18): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41418091 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(206): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(157): Show |
209 | 374 | 0.5588 | -3 | c.485 others(20): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41427885 | TGAG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(202): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(158): Show |
205 | 374 | 0.5481 | -3 | c.*32 others(14): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 2884 | chr19 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80108559 | TAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(86): Show |
89 | 294 | 0.3027 | -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 | 80124464 | CGTT | C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0023 | a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 others(3): Show |
6 | 294 | 0.0204 | -3 | c.197 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80177225 | CAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01515.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 others(13): Show |
16 | 294 | 0.0544 | -3 | c.742 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80199771 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(81): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(81): Show |
84 | 294 | 0.2857 | -3 | c.743 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80210135 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(91): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(91): Show |
94 | 294 | 0.3197 | -3 | c.951 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |