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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALK_chr2_29187774_29926586 | 29705278 | TATAA | T | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02004.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0037a0002c0028a0002c0036others(6): Show | a0001c0037t0005a0002c0028t0001a0002c0036t0015others(6): Show | a0001c0037t0005g0028 a0002c0028t0001g0014 a0002c0036t0015g0080 others(6): Show |
9 | 80 | 0.1125 | -4 | c.788 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29706975 | ATGTG | A | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01123.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0039a0001c0051others(11): Show | a0001c0004t0008a0001c0039t0013a0001c0051t0001others(11): Show | a0001c0004t0008g0003 a0001c0039t0013g0079 a0001c0051t0001g0019 others(13): Show |
16 | 25 | 0.6400 | -4 | c.787 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29710499 | CGTGT | C | intron_variant | MODIFIER | HG02486.hp2 HG02895.hp1 HG02922.hp2 others(2): Show |
a0001a0002a0004 | a0001c0009a0001c0039a0001c0051others(2): Show | a0001c0009t0005a0001c0039t0013a0001c0051t0001others(2): Show | a0001c0009t0005g0018 a0001c0039t0013g0079 a0001c0051t0001g0019 others(2): Show |
5 | 19 | 0.2632 | -4 | c.787 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29716994 | TCCAA | T | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp1 HG02280.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0048a0002c0008a0003c0005others(2): Show | a0001c0048t0001a0002c0008t0001a0003c0005t0002others(2): Show | a0001c0048t0001g0047 a0002c0008t0001g0045 a0003c0005t0002g0046 others(2): Show |
5 | 22 | 0.2273 | -4 | c.787 others(19): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29734008 | TGTCA | T | intron_variant | MODIFIER | HG02622.hp1 HG03453.hp1 |
a0003a0004 | a0003c0043a0004c0002 | a0003c0043t0002a0004c0002t0003 | a0003c0043t0002g0039 a0004c0002t0003g0058 |
2 | 80 | 0.0250 | -4 | c.668 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29750630 | GGGAA | G | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG02004.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0048a0002c0001a0002c0049others(3): Show | a0001c0048t0001a0002c0001t0001a0002c0049t0001others(3): Show | a0001c0048t0001g0047 a0002c0001t0001g0033 a0002c0049t0001g0072 others(3): Show |
6 | 34 | 0.1765 | -4 | c.668 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29796914 | AACTT | A | intron_variant | MODIFIER | HG01123.hp2 HG03225.hp2 |
a0001a0004 | a0001c0006a0004c0002 | a0001c0006t0001a0004c0002t0003 | a0001c0006t0001g0026 a0004c0002t0003g0025 |
2 | 80 | 0.0250 | -4 | c.668 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29805812 | CTGTT | C | intron_variant | MODIFIER | HG02572.hp2 HG02897.hp2 HG03540.hp1 |
a0002a0004a0005 | a0002c0056a0004c0032a0005c0013 | a0002c0056t0001a0004c0032t0003a0005c0013t0004 | a0002c0056t0001g0040 a0004c0032t0003g0052 a0005c0013t0004g0050 |
3 | 80 | 0.0375 | -4 | c.668 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29814976 | AAATG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01074.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(26): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(26): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0006t0001g0026 others(34): Show |
37 | 67 | 0.5522 | -4 | c.668 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAA | T | intron_variant | MODIFIER | HG00738.hp1 HG01891.hp1 HG02258.hp1 others(1): Show |
a0001a0002a0004 | a0001c0037a0002c0001a0002c0030others(1): Show | a0001c0037t0005a0002c0001t0001a0002c0030t0001others(1): Show | a0001c0037t0005g0028 a0002c0001t0001g0062 a0002c0030t0001g0060 others(1): Show |
4 | 26 | 0.1538 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831139 | AGAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG02071.hp1 others(2): Show |
a0001a0002a0003 | a0001c0038a0002c0001a0003c0005others(2): Show | a0001c0038t0001a0002c0001t0001a0003c0005t0002others(2): Show | a0001c0038t0001g0035 a0002c0001t0001g0063 a0003c0005t0002g0032 others(2): Show |
5 | 76 | 0.0658 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29852832 | TTCTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01106.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0058a0002c0007others(8): Show | a0001c0006t0001a0001c0058t0001a0002c0007t0001others(8): Show | a0001c0006t0001g0026 a0001c0058t0001g0024 a0002c0007t0001g0066 others(8): Show |
11 | 12 | 0.9167 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29853909 | TTTTC | T | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01123.hp2 others(5): Show |
a0001a0002a0003 | a0001c0006a0001c0035a0001c0058others(5): Show | a0001c0006t0001a0001c0035t0001a0001c0058t0001others(5): Show | a0001c0006t0001g0026 a0001c0035t0001g0068 a0001c0058t0001g0024 others(5): Show |
8 | 80 | 0.1000 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29870605 | ATTAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01074.hp2 others(29): Show |
a0001a0002a0003others(5): Show | a0001c0009a0001c0023a0001c0027others(25): Show | a0001c0009t0005a0001c0023t0010a0001c0027t0001others(25): Show | a0001c0009t0005g0018 a0001c0009t0005g0054 a0001c0023t0010g0076 others(29): Show |
32 | 80 | 0.4000 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29874376 | ACACT | A | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02970.hp1 |
a0002a0005a0007 | a0002c0028a0005c0013a0007c0057 | a0002c0028t0001a0005c0013t0004a0007c0057t0002 | a0002c0028t0001g0014 a0005c0013t0004g0020 a0007c0057t0002g0023 |
3 | 80 | 0.0375 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29889515 | GGATA | G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0001 a0003c0010t0006g0002 |
2 | 78 | 0.0256 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29889681 | TATAG | T | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02622.hp2 |
a0001a0002a0004 | a0001c0050a0002c0001a0004c0045 | a0001c0050t0014a0002c0001t0001a0004c0045t0002 | a0001c0050t0014g0077 a0002c0001t0001g0027 a0004c0045t0002g0043 |
3 | 80 | 0.0375 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29894849 | CACAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02451.hp2 |
a0001a0003 | a0001c0025a0001c0035a0003c0024 | a0001c0025t0011a0001c0035t0001a0003c0024t0009 | a0001c0025t0011g0074 a0001c0035t0001g0068 a0003c0024t0009g0075 |
3 | 80 | 0.0375 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29900995 | GAGCA | G | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 |
a0001a0004 | a0001c0035a0004c0045 | a0001c0035t0001a0004c0045t0002 | a0001c0035t0001g0068 a0004c0045t0002g0043 |
2 | 44 | 0.0455 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29903574 | CAATT | C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0001 a0003c0010t0006g0002 |
2 | 80 | 0.0250 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29906937 | GTTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01106.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0037others(17): Show | a0001c0004t0001a0001c0006t0001a0001c0037t0005others(17): Show | a0001c0004t0001g0037 a0001c0006t0001g0036 a0001c0037t0005g0028 others(23): Show |
26 | 38 | 0.6842 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29908280 | GCACA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp1 others(50): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0006a0001c0009others(33): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(33): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0006t0001g0026 others(50): Show |
53 | 64 | 0.8281 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29909480 | CAGAG | C | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG02109.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0017a0001c0048others(9): Show | a0001c0006t0001a0001c0017t0001a0001c0048t0001others(9): Show | a0001c0006t0001g0026 a0001c0017t0001g0012 a0001c0048t0001g0047 others(9): Show |
12 | 34 | 0.3529 | -4 | c.667 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02717.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0010 | a0001c0001t0001a0001c0001t0003a0003c0003t0002others(1): Show | a0001c0001t0001g0046 a0001c0001t0003g0227 a0003c0003t0002g0030 others(5): Show |
8 | 62 | 0.1290 | -4 | c.-62 others(21): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3674047 | ATCTT | A | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG01081.hp1 HG01081.hp2 others(56): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0005others(11): Show | a0001c0001t0002a0002c0002t0002a0002c0005t0002others(11): Show | a0001c0001t0002g0029 a0001c0001t0002g0104 a0001c0001t0002g0127 others(51): Show |
59 | 272 | 0.2169 | -4 | c.34- others(14): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3675597 | TATAC | T | intron_variant | MODIFIER | HG01123.hp2 HG02559.hp2 HG02723.hp2 others(4): Show |
a0002a0005 | a0002c0002a0002c0006a0002c0014others(1): Show | a0002c0002t0002a0002c0006t0002a0002c0014t0002others(1): Show | a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0006t0002g0135 others(4): Show |
7 | 267 | 0.0262 | -4 | c.84+ others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3684000 | TGACA | T | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(5): Show |
8 | 272 | 0.0294 | -4 | c.511 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3697609 | CTCTG | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0050 a0002c0002t0001g0069 a0002c0002t0001g0085 others(22): Show |
30 | 255 | 0.1176 | -4 | c.850 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3697621 | GTCTA | G | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00733.hp1 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(41): Show |
51 | 178 | 0.2865 | -4 | c.850 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73390794 | GTCTC | G | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0004 | a0004c0007a0004c0010a0004c0057 | a0004c0007t0001a0004c0010t0001a0004c0057t0001 | a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(9): Show |
12 | 246 | 0.0488 | -4 | c.324 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73392260 | ATGTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0002a0003others(14): Show | a0001c0004a0001c0011a0001c0021others(32): Show | a0001c0004t0001a0001c0011t0001a0001c0021t0001others(34): Show | a0001c0004t0001g0005 a0001c0004t0001g0036 a0001c0004t0001g0038 others(133): Show |
136 | 147 | 0.9252 | -4 | c.324 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73395036 | ATGTG | A | intron_variant | MODIFIER | HG01169.hp1 HG01256.hp2 HG01257.hp1 others(15): Show |
a0001a0013 | a0001c0003a0001c0019a0001c0043others(3): Show | a0001c0003t0002a0001c0019t0002a0001c0043t0002others(3): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(15): Show |
18 | 245 | 0.0735 | -4 | c.324 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73410803 | GTTAT | G | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
a0004a0018 | a0004c0007a0004c0008a0004c0010others(3): Show | a0004c0007t0001a0004c0008t0001a0004c0010t0001others(3): Show | a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(17): Show |
20 | 246 | 0.0813 | -4 | c.450 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73413316 | CTTGT | C | intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0020a0001c0040a0001c0051 | a0001c0020t0001a0001c0040t0001a0001c0051t0001 | a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0040t0001g0207 others(1): Show |
4 | 246 | 0.0163 | -4 | c.450 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73415424 | TTGAA | T | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
a0004a0018 | a0004c0008a0004c0032a0018c0033 | a0004c0008t0001a0004c0032t0001a0018c0033t0001 | a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(5): Show |
8 | 246 | 0.0325 | -4 | c.451 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73473920 | AAGAG | A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
a0004a0005a0010others(2): Show | a0004c0008a0004c0032a0005c0005others(5): Show | a0004c0008t0001a0004c0032t0001a0005c0005t0001others(5): Show | a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(22): Show |
25 | 146 | 0.1712 | -4 | c.767 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73478656 | GTTTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(112): Show |
a0002a0004a0005others(8): Show | a0002c0001a0002c0015a0002c0066others(25): Show | a0002c0001t0001a0002c0001t0004a0002c0015t0001others(27): Show | a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0095 others(112): Show |
115 | 241 | 0.4772 | -4 | c.767 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73480920 | GTTGT | G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
a0004a0005a0010others(2): Show | a0004c0008a0004c0032a0005c0005others(5): Show | a0004c0008t0001a0004c0032t0001a0005c0005t0001others(5): Show | a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(22): Show |
25 | 246 | 0.1016 | -4 | c.767 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73493346 | TACAC | T | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01167.hp2 others(24): Show |
a0002a0004a0005others(1): Show | a0002c0001a0004c0007a0004c0010others(4): Show | a0002c0001t0001a0004c0007t0001a0004c0010t0001others(4): Show | a0002c0001t0001g0130 a0004c0007t0001g0096 a0004c0007t0001g0098 others(24): Show |
27 | 147 | 0.1837 | -4 | c.953 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73515768 | TACAC | T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01433.hp2 others(19): Show |
a0001a0002a0004others(4): Show | a0001c0055a0002c0001a0004c0007others(5): Show | a0001c0055t0001a0002c0001t0001a0004c0007t0001others(5): Show | a0001c0055t0001g0194 a0002c0001t0001g0182 a0004c0007t0001g0228 others(19): Show |
22 | 75 | 0.2933 | -4 | c.954 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73575157 | TTATC | T | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0004 | a0004c0007a0004c0010a0004c0057 | a0004c0007t0001a0004c0010t0001a0004c0057t0001 | a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(9): Show |
12 | 246 | 0.0488 | -4 | c.115 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73608199 | CATTT | C | intron_variant | MODIFIER | HG03017.hp1 NA18941.hp2 NA18962.hp1 others(4): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0017 others(4): Show |
7 | 246 | 0.0285 | -4 | c.123 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73611629 | TATTC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
a0001a0004a0005others(5): Show | a0001c0003a0001c0004a0001c0011others(37): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(37): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(113): Show |
116 | 246 | 0.4715 | -4 | c.*20 others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1714 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73614591 | TAAGA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(113): Show |
a0001a0004a0005others(5): Show | a0001c0003a0001c0004a0001c0011others(37): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(37): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(113): Show |
116 | 246 | 0.4715 | -4 | c.*49 others(15): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4676 | chr2 | TogoVar | |||||||
ALOX12B_chr17_8067636_8092716 | 8078115 | TTTTA | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(141): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(78): Show |
144 | 345 | 0.4174 | -4 | c.107 others(21): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 8/14 | chr17 | TogoVar | |||||||
ALOX12B_chr17_8067636_8092716 | 8078894 | CTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(85): Show |
156 | 242 | 0.6446 | -4 | c.107 others(21): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 8/14 | chr17 | TogoVar | |||||||
ALOX12B_chr17_8067636_8092716 | 8087233 | CACAG | C | intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01943.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0224 others(5): Show |
15 | 460 | 0.0326 | -4 | c.147 others(17): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ALOX12B_chr17_8067636_8092716 | 8087259 | GACAC | G | intron_variant | MODIFIER | HG00642.hp1 HG01361.hp2 HG01952.hp1 others(25): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0156 a0001c0001t0002g0014 a0001c0001t0002g0015 others(15): Show |
28 | 190 | 0.1474 | -4 | c.147 others(17): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ALOX12B_chr17_8067636_8092716 | 8092328 | TTTTG | T | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG03041.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0190 a0001c0001t0002g0089 others(3): Show |
7 | 360 | 0.0194 | -4 | c.-48 others(15): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 4613 | chr17 | TogoVar | |||||||
ALOX12_chr17_6991049_7015754 | 7004413 | TTTAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00621.hp2 others(48): Show |
a0001a0002 | a0001c0007a0002c0004a0002c0018 | a0001c0007t0001a0002c0004t0001a0002c0018t0001 | a0001c0007t0001g0125 a0002c0004t0001g0002 a0002c0004t0001g0014 others(20): Show |
51 | 402 | 0.1269 | -4 | c.116 others(21): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |