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 | 29752348 | CTT | C | intron_variant | MODIFIER | HG01123.hp2 HG03195.hp2 HG03225.hp2 others(2): Show |
a0001a0004a0005 | a0001c0004a0001c0006a0001c0040others(2): Show | a0001c0004t0001a0001c0006t0001a0001c0040t0001others(2): Show | a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0040t0001g0022 others(2): Show |
5 | 80 | 0.0625 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29757593 | TTG | T | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01109.hp2 others(1): Show |
a0001a0002a0004 | a0001c0004a0001c0058a0002c0049others(1): Show | a0001c0004t0001a0001c0058t0001a0002c0049t0001others(1): Show | a0001c0004t0001g0037 a0001c0058t0001g0024 a0002c0049t0001g0072 others(1): Show |
4 | 80 | 0.0500 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29758005 | CTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02738.hp2 others(2): Show |
a0001a0003a0004 | a0001c0017a0001c0025a0003c0010others(2): Show | a0001c0017t0001a0001c0025t0011a0003c0010t0006others(2): Show | a0001c0017t0001g0012 a0001c0025t0011g0074 a0003c0010t0006g0001 others(2): Show |
5 | 80 | 0.0625 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29785912 | TAC | T | intron_variant | MODIFIER | HG01106.hp1 HG02647.hp1 HG02895.hp1 |
a0001a0003 | a0001c0039a0001c0053a0003c0005 | a0001c0039t0013a0001c0053t0001a0003c0005t0002 | a0001c0039t0013g0079 a0001c0053t0001g0070 a0003c0005t0002g0048 |
3 | 80 | 0.0375 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29795177 | GAC | G | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG03139.hp1 others(2): Show |
a0001a0002a0004 | a0001c0006a0001c0023a0001c0025others(2): Show | a0001c0006t0007a0001c0023t0010a0001c0025t0011others(2): Show | a0001c0006t0007g0056 a0001c0023t0010g0076 a0001c0025t0011g0074 others(2): Show |
5 | 80 | 0.0625 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29797000 | CCA | C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02055.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0020a0001c0025others(7): Show | a0001c0006t0007a0001c0020t0005a0001c0025t0011others(7): Show | a0001c0006t0007g0056 a0001c0020t0005g0005 a0001c0025t0011g0074 others(7): Show |
10 | 80 | 0.1250 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29811234 | TCC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(52): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0009others(39): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(39): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0006t0001g0026 others(52): Show |
55 | 80 | 0.6875 | -2 | c.668 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830953 | GAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02071.hp2 HG02280.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0025a0002c0008a0003c0003others(3): Show | a0001c0025t0011a0002c0008t0001a0003c0003t0002others(3): Show | a0001c0025t0011g0074 a0002c0008t0001g0049 a0003c0003t0002g0038 others(3): Show |
6 | 80 | 0.0750 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831009 | GAA | G | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG02071.hp1 others(1): Show |
a0002a0003 | a0002c0001a0003c0005a0003c0015others(1): Show | a0002c0001t0001a0003c0005t0002a0003c0015t0002others(1): Show | a0002c0001t0001g0063 a0003c0005t0002g0032 a0003c0015t0002g0010 others(1): Show |
4 | 80 | 0.0500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831168 | AGG | A | intron_variant | MODIFIER | HG00323.hp1 HG02071.hp1 HG02486.hp1 |
a0001a0002a0003 | a0001c0038a0002c0001a0003c0015 | a0001c0038t0001a0002c0001t0001a0003c0015t0002 | a0001c0038t0001g0035 a0002c0001t0001g0063 a0003c0015t0002g0010 |
3 | 80 | 0.0375 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29844859 | GCA | G | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02622.hp1 others(1): Show |
a0003a0005a0007 | a0003c0043a0005c0013a0005c0021others(1): Show | a0003c0043t0002a0005c0013t0004a0005c0021t0004others(1): Show | a0003c0043t0002g0039 a0005c0013t0004g0020 a0005c0021t0004g0006 others(1): Show |
4 | 80 | 0.0500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29848347 | CTT | C | intron_variant | MODIFIER | HG01106.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
a0001a0004 | a0001c0039a0001c0053a0004c0002 | a0001c0039t0013a0001c0053t0001a0004c0002t0003 | a0001c0039t0013g0079 a0001c0053t0001g0070 a0004c0002t0003g0057 others(1): Show |
4 | 80 | 0.0500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29852832 | TTC | T | intron_variant | MODIFIER | HG00323.hp2 HG01891.hp2 HG02004.hp1 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0040a0002c0001others(4): Show | a0001c0004t0001a0001c0040t0001a0002c0001t0001others(4): Show | a0001c0004t0001g0021 a0001c0040t0001g0022 a0002c0001t0001g0033 others(5): Show |
8 | 80 | 0.1000 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29858059 | ATG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(53): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(40): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(41): Show | a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0006t0007g0056 others(53): Show |
56 | 80 | 0.7000 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29884154 | ATC | A | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01891.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0009a0001c0037others(14): Show | a0001c0004t0001a0001c0009t0005a0001c0037t0005others(14): Show | a0001c0004t0001g0021 a0001c0009t0005g0018 a0001c0009t0005g0054 others(16): Show |
19 | 80 | 0.2375 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29889254 | CAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp1 others(54): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(41): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(41): Show | a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0006t0001g0036 others(54): Show |
57 | 80 | 0.7125 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29889695 | CAG | C | intron_variant | MODIFIER | HG00323.hp1 HG03453.hp2 |
a0001a0003 | a0001c0016a0003c0015 | a0001c0016t0007a0003c0015t0002 | a0001c0016t0007g0004 a0003c0015t0002g0010 |
2 | 80 | 0.0250 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29890315 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01106.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0023a0001c0025a0001c0027others(14): Show | a0001c0023t0010a0001c0025t0011a0001c0027t0001others(14): Show | a0001c0023t0010g0076 a0001c0025t0011g0074 a0001c0027t0001g0013 others(17): Show |
20 | 80 | 0.2500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29894851 | CAA | C | intron_variant | MODIFIER | HG02145.hp1 HG03139.hp1 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0006a0001c0023a0002c0001others(1): Show | a0001c0006t0007a0001c0023t0010a0002c0001t0001others(1): Show | a0001c0006t0007g0056 a0001c0023t0010g0076 a0002c0001t0001g0061 others(1): Show |
4 | 80 | 0.0500 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29894853 | AAC | A | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG01891.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0009a0001c0037a0001c0051others(11): Show | a0001c0009t0005a0001c0037t0005a0001c0051t0001others(11): Show | a0001c0009t0005g0018 a0001c0037t0005g0028 a0001c0051t0001g0019 others(12): Show |
15 | 80 | 0.1875 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29908280 | GCA | G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG03041.hp2 |
a0001a0002 | a0001c0009a0001c0027a0002c0028 | a0001c0009t0005a0001c0027t0001a0002c0028t0001 | a0001c0009t0005g0054 a0001c0027t0001g0013 a0002c0028t0001g0014 |
3 | 80 | 0.0375 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29908359 | CCT | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02280.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0048a0002c0008a0002c0011others(5): Show | a0001c0048t0001a0002c0008t0001a0002c0011t0001others(5): Show | a0001c0048t0001g0047 a0002c0008t0001g0044 a0002c0008t0001g0049 others(7): Show |
10 | 80 | 0.1250 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29909480 | CAG | C | intron_variant | MODIFIER | HG01106.hp1 HG02071.hp2 HG02258.hp2 others(3): Show |
a0001a0003a0004 | a0001c0004a0001c0053a0003c0003others(3): Show | a0001c0004t0008a0001c0053t0001a0003c0003t0002others(3): Show | a0001c0004t0008g0003 a0001c0053t0001g0070 a0003c0003t0002g0038 others(3): Show |
6 | 80 | 0.0750 | -2 | c.667 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3661292 | CAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(79): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0002others(10): Show | a0001c0001t0001g0186 a0001c0001t0001g0210 a0001c0001t0001g0227 others(74): Show |
82 | 274 | 0.2993 | -2 | c.-63 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3662029 | CAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01891.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0005t0002others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0036 others(22): Show |
25 | 274 | 0.0912 | -2 | c.-63 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTT | C | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp1 HG02071.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0248 others(12): Show |
15 | 274 | 0.0547 | -2 | c.-62 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3675387 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(182): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(171): Show |
185 | 274 | 0.6752 | -2 | c.84+ others(17): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73381516 | CAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00621.hp2 others(106): Show |
a0001a0003a0004others(6): Show | a0001c0003a0001c0004a0001c0011others(34): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(34): Show | a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 others(106): Show |
109 | 248 | 0.4395 | -2 | c.-43 others(13): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4319 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73392260 | ATG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(84): Show |
a0001a0002a0003others(10): Show | a0001c0003a0001c0004a0001c0011others(36): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(36): Show | a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 others(84): Show |
87 | 248 | 0.3508 | -2 | c.324 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73396303 | TAC | T | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02257.hp2 others(7): Show |
a0001a0007a0016others(1): Show | a0001c0004a0001c0054a0007c0009others(3): Show | a0001c0004t0001a0001c0054t0001a0007c0009t0001others(3): Show | a0001c0004t0001g0239 a0001c0004t0001g0247 a0001c0054t0001g0193 others(7): Show |
10 | 248 | 0.0403 | -2 | 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 | 73401681 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
a0004a0018 | a0004c0007a0004c0008a0004c0010others(3): Show | a0004c0007t0001a0004c0008t0001a0004c0010t0001others(3): Show | a0004c0007t0001g0098 a0004c0007t0001g0099 a0004c0007t0001g0100 others(17): Show |
20 | 248 | 0.0807 | -2 | c.325 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73402049 | TGA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(65): Show |
a0001a0008a0013 | a0001c0003a0001c0004a0001c0011others(20): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(20): Show | a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 others(65): Show |
68 | 248 | 0.2742 | -2 | c.325 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73402270 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
a0004a0018 | a0004c0008a0004c0032a0018c0033 | a0004c0008t0001a0004c0032t0001a0018c0033t0001 | a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(5): Show |
8 | 248 | 0.0323 | -2 | c.325 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73408864 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG01891.hp1 others(9): Show |
a0004a0018 | a0004c0008a0004c0010a0004c0057others(1): Show | a0004c0008t0001a0004c0010t0001a0004c0057t0001others(1): Show | a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(9): Show |
12 | 248 | 0.0484 | -2 | c.450 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73414473 | GTT | G | intron_variant | MODIFIER | HG01361.hp1 HG02615.hp2 HG02622.hp1 others(11): Show |
a0001a0008 | a0001c0012a0001c0022a0001c0023others(5): Show | a0001c0012t0001a0001c0022t0001a0001c0023t0001others(5): Show | a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 others(11): Show |
14 | 248 | 0.0565 | -2 | c.451 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73429278 | CTT | C | intron_variant | MODIFIER | HG01069.hp2 HG02055.hp2 HG02896.hp1 others(2): Show |
a0001a0010 | a0001c0003a0001c0004a0001c0022others(1): Show | a0001c0003t0002a0001c0004t0001a0001c0022t0001others(1): Show | a0001c0003t0002g0067 a0001c0004t0001g0036 a0001c0022t0001g0200 others(2): Show |
5 | 248 | 0.0202 | -2 | c.133 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73468310 | ACT | A | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
a0005a0010a0019 | a0005c0005a0005c0058a0010c0017others(2): Show | a0005c0005t0001a0005c0058t0001a0010c0017t0003others(2): Show | a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(14): Show |
17 | 248 | 0.0686 | -2 | 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 | 73470633 | CTG | C | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(14): Show |
a0005a0010a0019 | a0005c0005a0005c0058a0010c0017others(2): Show | a0005c0005t0001a0005c0058t0001a0010c0017t0003others(2): Show | a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(14): Show |
17 | 248 | 0.0686 | -2 | 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 | 73473684 | AAG | 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 | 248 | 0.1008 | -2 | 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 | 73473920 | AAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
a0002a0004a0005others(6): Show | a0002c0001a0002c0015a0002c0066others(18): Show | a0002c0001t0001a0002c0001t0004a0002c0015t0001others(20): Show | a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0095 others(90): Show |
93 | 248 | 0.3750 | -2 | 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 | 73474371 | CTG | C | intron_variant | MODIFIER | HG03225.hp2 NA19009.hp2 NA20129.hp1 |
a0003a0007a0008 | a0003c0037a0007c0009a0008c0062 | a0003c0037t0001a0007c0009t0001a0008c0062t0001 | a0003c0037t0001g0032 a0007c0009t0001g0187 a0008c0062t0001g0120 |
3 | 248 | 0.0121 | -2 | 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 | 73492968 | TAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01099.hp2 others(31): Show |
a0001a0004a0005others(1): Show | a0001c0011a0001c0012a0001c0020others(8): Show | a0001c0011t0001a0001c0012t0001a0001c0020t0001others(8): Show | a0001c0011t0001g0042 a0001c0012t0001g0202 a0001c0012t0001g0204 others(31): Show |
34 | 248 | 0.1371 | -2 | c.953 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73493346 | TAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(81): Show |
a0001a0003a0005others(4): Show | a0001c0003a0001c0004a0001c0011others(32): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(32): Show | a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 others(81): Show |
84 | 248 | 0.3387 | -2 | c.953 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73500746 | CAG | C | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
a0004a0018 | a0004c0008a0004c0032a0018c0033 | a0004c0008t0001a0004c0032t0001a0018c0033t0001 | a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(5): Show |
8 | 248 | 0.0323 | -2 | c.953 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73515768 | TAC | T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0013a0001c0026others(5): Show | a0001c0003t0002a0001c0013t0001a0001c0026t0001others(5): Show | a0001c0003t0002g0091 a0001c0013t0001g0244 a0001c0013t0001g0245 others(9): Show |
12 | 248 | 0.0484 | -2 | c.954 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73520441 | CAT | C | intron_variant | MODIFIER | HG02602.hp1 HG02698.hp1 HG03688.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0074 a0001c0003t0002g0077 a0001c0003t0002g0078 |
3 | 248 | 0.0121 | -2 | c.978 others(19): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73521580 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(105): Show |
a0001a0004a0005others(6): Show | a0001c0003a0001c0004a0001c0011others(38): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(38): Show | a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 others(105): Show |
108 | 248 | 0.4355 | -2 | c.978 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73522467 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(118): Show |
a0001a0003a0007others(8): Show | a0001c0003a0001c0004a0001c0011others(42): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(42): Show | a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 others(118): Show |
121 | 248 | 0.4879 | -2 | c.978 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73528673 | ATT | A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0004 | a0004c0007a0004c0010a0004c0057 | a0004c0007t0001a0004c0010t0001a0004c0057t0001 | a0004c0007t0001g0098 a0004c0007t0001g0099 a0004c0007t0001g0100 others(9): Show |
12 | 248 | 0.0484 | -2 | c.978 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73529039 | GTT | G | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(16): Show |
a0001a0004 | a0001c0022a0001c0024a0001c0048others(5): Show | a0001c0022t0001a0001c0024t0001a0001c0048t0001others(5): Show | a0001c0022t0001g0199 a0001c0022t0001g0200 a0001c0024t0001g0194 others(16): Show |
19 | 248 | 0.0766 | -2 | c.978 others(21): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |