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 | 29245972 | C | CCAT | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 |
a0001a0002 | a0001c0006a0002c0052 | a0001c0006t0001a0002c0052t0001 | a0001c0006t0001g0036 a0002c0052t0001g0017 |
2 | 80 | 0.0250 | 3 | c.220 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 12/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29260227 | T | TAGG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0022a0001c0023others(25): Show | a0001c0006t0001a0001c0022t0001a0001c0023t0010others(25): Show | a0001c0006t0001g0026 a0001c0022t0001g0007 a0001c0023t0010g0076 others(35): Show |
38 | 80 | 0.4750 | 3 | c.204 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 11/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29313008 | G | GAGA | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02055.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0037a0002c0036a0005c0013others(2): Show | a0001c0037t0005a0002c0036t0015a0005c0013t0004others(2): Show | a0001c0037t0005g0028 a0002c0036t0015g0080 a0005c0013t0004g0050 others(2): Show |
5 | 80 | 0.0625 | 3 | c.164 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 8/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29356927 | G | GATC | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02004.hp1 others(4): Show |
a0001a0002a0005 | a0001c0027a0001c0035a0001c0037others(4): Show | a0001c0027t0001a0001c0035t0001a0001c0037t0005others(4): Show | a0001c0027t0001g0013 a0001c0035t0001g0068 a0001c0037t0005g0028 others(4): Show |
7 | 80 | 0.0875 | 3 | c.128 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29408081 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(1): Show |
a0001a0002 | a0001c0025a0001c0051a0002c0001others(1): Show | a0001c0025t0011a0001c0051t0001a0002c0001t0001others(1): Show | a0001c0025t0011g0074 a0001c0051t0001g0019 a0002c0001t0001g0027 others(1): Show |
4 | 55 | 0.0727 | 3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29427037 | C | CAAA | intron_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG02257.hp1 others(3): Show |
a0001a0002a0004 | a0001c0006a0001c0051a0002c0011others(3): Show | a0001c0006t0001a0001c0051t0001a0002c0011t0001others(3): Show | a0001c0006t0001g0026 a0001c0051t0001g0019 a0002c0011t0001g0042 others(3): Show |
6 | 24 | 0.2500 | 3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29440282 | G | GATA | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02922.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0025a0002c0011others(2): Show | a0001c0004t0001a0001c0025t0011a0002c0011t0001others(2): Show | a0001c0004t0001g0037 a0001c0025t0011g0074 a0002c0011t0001g0051 others(2): Show |
5 | 80 | 0.0625 | 3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29440319 | T | TTTC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00738.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(24): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(25): Show | a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0006t0007g0056 others(30): Show |
33 | 80 | 0.4125 | 3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29442124 | T | TCTC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(57): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(42): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(44): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(57): Show |
60 | 80 | 0.7500 | 3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29453201 | G | GCAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(47): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0016others(38): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(39): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0006t0001g0026 others(47): Show |
50 | 80 | 0.6250 | 3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29459228 | A | AAAT | intron_variant | MODIFIER | HG01123.hp2 HG02004.hp1 HG02071.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0017a0001c0022others(9): Show | a0001c0006t0001a0001c0017t0001a0001c0022t0001others(9): Show | a0001c0006t0001g0026 a0001c0017t0001g0012 a0001c0022t0001g0007 others(10): Show |
13 | 80 | 0.1625 | 3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29468853 | C | CAAA | intron_variant | MODIFIER | HG01123.hp2 HG02622.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006a0001c0040others(1): Show | a0001c0004t0001a0001c0006t0001a0001c0040t0001others(1): Show | a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0040t0001g0022 others(1): Show |
4 | 28 | 0.1429 | 3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29548547 | C | CTCT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(66): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0006a0001c0009others(48): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(50): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(66): Show |
69 | 80 | 0.8625 | 3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29569300 | G | GAGC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0006a0001c0009others(44): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(46): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(62): Show |
65 | 80 | 0.8125 | 3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29604163 | G | GTTT | intron_variant | MODIFIER | HG02738.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
a0003a0004a0005 | a0003c0026a0003c0034a0003c0054others(2): Show | a0003c0026t0002a0003c0034t0002a0003c0054t0002others(2): Show | a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0054t0002g0069 others(2): Show |
5 | 45 | 0.1111 | 3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29633173 | T | TCCA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00738.hp1 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0009a0001c0016others(32): Show | a0001c0004t0008a0001c0009t0005a0001c0016t0007others(32): Show | a0001c0004t0008g0003 a0001c0009t0005g0054 a0001c0016t0007g0004 others(38): Show |
41 | 80 | 0.5125 | 3 | c.952 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29717171 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0016a0001c0033a0001c0037others(9): Show | a0001c0016t0007a0001c0033t0001a0001c0037t0005others(9): Show | a0001c0016t0007g0004 a0001c0033t0001g0029 a0001c0037t0005g0028 others(13): Show |
16 | 55 | 0.2909 | 3 | c.787 others(18): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29739240 | T | TAAA | intron_variant | MODIFIER | HG01106.hp1 HG02622.hp2 HG02895.hp2 others(1): Show |
a0001a0003 | a0001c0050a0001c0053a0003c0010 | a0001c0050t0014a0001c0053t0001a0003c0010t0006 | a0001c0050t0014g0077 a0001c0053t0001g0070 a0003c0010t0006g0001 others(1): Show |
4 | 23 | 0.1739 | 3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29754691 | A | AAAT | intron_variant | MODIFIER | HG02622.hp1 HG03453.hp1 NA19043.hp2 |
a0003a0004 | a0003c0012a0003c0043a0004c0002 | a0003c0012t0002a0003c0043t0002a0004c0002t0003 | a0003c0012t0002g0067 a0003c0043t0002g0039 a0004c0002t0003g0058 |
3 | 80 | 0.0375 | 3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29784713 | A | AAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(69): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(49): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(50): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(69): Show |
72 | 77 | 0.9351 | 3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830924 | A | AAAG | intron_variant | MODIFIER | HG01884.hp1 HG03139.hp2 |
a0001a0003 | a0001c0020a0003c0026 | a0001c0020t0005a0003c0026t0002 | a0001c0020t0005g0005 a0003c0026t0002g0015 |
2 | 80 | 0.0250 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830955 | A | AAAG | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 |
a0002 | a0002c0001a0002c0055 | a0002c0001t0001a0002c0055t0001 | a0002c0001t0001g0027 a0002c0055t0001g0031 |
2 | 26 | 0.0769 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831031 | G | GGGA | 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 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831034 | G | GGGA | 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 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831091 | A | AAGG | intron_variant | MODIFIER | HG02895.hp1 HG03453.hp1 |
a0001a0004 | a0001c0039a0004c0002 | a0001c0039t0013a0004c0002t0003 | a0001c0039t0013g0079 a0004c0002t0003g0058 |
2 | 80 | 0.0250 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29888246 | G | GTTT | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01433.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0009a0001c0035others(13): Show | a0001c0004t0001a0001c0009t0005a0001c0035t0001others(13): Show | a0001c0004t0001g0021 a0001c0009t0005g0018 a0001c0009t0005g0054 others(14): Show |
17 | 57 | 0.2982 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29888250 | T | TTTG | 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 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29909979 | C | CAAA | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02738.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0035a0002c0047others(2): Show | a0001c0006t0007a0001c0035t0001a0002c0047t0001others(2): Show | a0001c0006t0007g0056 a0001c0035t0001g0068 a0002c0047t0001g0055 others(2): Show |
5 | 53 | 0.0943 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29910968 | A | AAAC | intron_variant | MODIFIER | HG01433.hp2 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0047a0003c0026others(1): Show | a0001c0006t0007a0002c0047t0001a0003c0026t0002others(1): Show | a0001c0006t0007g0056 a0002c0047t0001g0055 a0003c0026t0002g0015 others(1): Show |
4 | 78 | 0.0513 | 3 | c.667 others(20): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29926016 | A | AGAG | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02451.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0023a0001c0025a0002c0008others(5): Show | a0001c0023t0010a0001c0025t0011a0002c0008t0001others(5): Show | a0001c0023t0010g0076 a0001c0025t0011g0074 a0002c0008t0001g0049 others(5): Show |
8 | 80 | 0.1000 | 3 | c.-53 others(14): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4431 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29926034 | A | AGAG | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02451.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0023a0001c0025a0002c0008others(5): Show | a0001c0023t0010a0001c0025t0011a0002c0008t0001others(5): Show | a0001c0023t0010g0076 a0001c0025t0011g0074 a0002c0008t0001g0049 others(5): Show |
8 | 80 | 0.1000 | 3 | c.-53 others(14): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4449 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3668566 | C | CTTT | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01167.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0002a0003c0003t0002others(3): Show | a0001c0001t0002g0029 a0001c0001t0002g0104 a0001c0001t0002g0127 others(21): Show |
27 | 81 | 0.3333 | 3 | c.-62 others(20): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73381369 | C | CAAA | upstream_gene_variant | MODIFIER | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(3): Show |
a0001a0003 | a0001c0018a0001c0020a0001c0040others(2): Show | a0001c0018t0001a0001c0020t0001a0001c0040t0001others(2): Show | a0001c0018t0001g0055 a0001c0020t0001g0206 a0001c0020t0001g0208 others(3): Show |
6 | 94 | 0.0638 | 3 | c.-45 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4466 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73385903 | T | TGGA | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(56): Show |
a0002a0011 | a0002c0001a0002c0015a0002c0066others(8): Show | a0002c0001t0001a0002c0001t0004a0002c0015t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0095 others(56): Show |
59 | 74 | 0.7973 | 3 | c.72_ others(8): Show |
p.Glu others(5): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 108/12844 | 75/12507 | 25/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ALMS1_chr2_73380836_73614916 | 73396550 | C | CTTT | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0004a0001c0013a0001c0026others(1): Show | a0001c0004t0001a0001c0013t0001a0001c0026t0001others(1): Show | a0001c0004t0001g0033 a0001c0013t0001g0241 a0001c0013t0001g0243 others(4): Show |
7 | 47 | 0.1489 | 3 | c.324 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73399936 | G | GTTT | intron_variant | MODIFIER | HG01433.hp2 HG01928.hp2 HG01943.hp1 others(9): Show |
a0005a0010 | a0005c0005a0005c0058a0010c0017 | a0005c0005t0001a0005c0058t0001a0010c0017t0003 | a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0111 others(9): Show |
12 | 215 | 0.0558 | 3 | c.325 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73471493 | C | CAAA | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01175.hp1 others(9): Show |
a0001 | a0001c0003a0001c0020 | a0001c0003t0002a0001c0020t0001 | a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 others(9): Show |
12 | 52 | 0.2308 | 3 | c.767 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73568995 | C | CTTT | intron_variant | MODIFIER | HG01256.hp1 HG03540.hp2 NA18961.hp2 others(3): Show |
a0002a0005 | a0002c0001a0005c0005 | a0002c0001t0001a0005c0005t0001 | a0002c0001t0001g0126 a0002c0001t0001g0139 a0002c0001t0001g0164 others(3): Show |
6 | 34 | 0.1765 | 3 | c.103 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTT | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG02647.hp2 others(7): Show |
a0001a0010a0019 | a0001c0003a0001c0004a0001c0013others(4): Show | a0001c0003t0002a0001c0004t0001a0001c0013t0001others(4): Show | a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0004t0001g0239 others(7): Show |
10 | 105 | 0.0952 | 3 | c.115 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73593112 | A | AGAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
a0001a0002a0004others(14): Show | a0001c0003a0001c0004a0001c0011others(62): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(64): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(202): Show |
205 | 246 | 0.8333 | 3 | c.115 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8092345 | T | TTTG | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02135.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0002g0006 a0001c0001t0002g0082 |
3 | 460 | 0.0065 | 3 | c.-49 others(14): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 4630 | chr17 | TogoVar | |||||||
ALOX12_chr17_6991049_7015754 | 7004074 | T | TTAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(364): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(199): Show |
367 | 400 | 0.9175 | 3 | c.116 others(22): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006056 | G | GGGT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00733.hp1 others(30): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0004a0004c0015others(1): Show | a0001c0001t0001a0002c0004t0001a0004c0015t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0043 others(19): Show |
33 | 402 | 0.0821 | 3 | c.141 others(18): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006066 | G | GGGT | intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01175.hp1 others(23): Show |
a0001a0002 | a0001c0003a0002c0017 | a0001c0003t0001a0001c0003t0002a0002c0017t0001 | a0001c0003t0001g0003 a0001c0003t0001g0044 a0001c0003t0001g0045 others(9): Show |
26 | 382 | 0.0681 | 3 | c.141 others(18): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040652 | A | AAAG | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00609.hp2 others(22): Show |
a0001a0002a0007others(2): Show | a0001c0005a0001c0047a0002c0002others(4): Show | a0001c0005t0002a0001c0005t0004a0001c0047t0004others(5): Show | a0001c0005t0002g0004 a0001c0005t0004g0001 a0001c0005t0004g0082 others(10): Show |
25 | 424 | 0.0590 | 3 | c.449 others(18): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8051469 | C | CAAA | downstream_gene_variant | MODIFIER | HG02129.hp1 HG04184.hp1 NA18988.hp1 others(13): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002a0003c0004t0005 | a0003c0004t0001g0059 a0003c0004t0001g0130 a0003c0004t0001g0158 others(11): Show |
16 | 240 | 0.0667 | 3 | c.*29 others(14): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 2336 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8052714 | A | AGAT | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01884.hp2 HG03927.hp1 others(5): Show |
a0001a0016 | a0001c0001a0001c0010a0016c0037 | a0001c0001t0001a0001c0010t0004a0001c0010t0012others(1): Show | a0001c0001t0001g0038 a0001c0010t0004g0018 a0001c0010t0004g0068 others(4): Show |
8 | 468 | 0.0171 | 3 | c.*41 others(14): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3581 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8052737 | T | TAGA | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02818.hp1 HG04184.hp1 others(3): Show |
a0001a0003 | a0001c0008a0003c0004 | a0001c0008t0001a0001c0008t0010a0003c0004t0001others(1): Show | a0001c0008t0001g0201 a0001c0008t0001g0202 a0001c0008t0001g0206 others(3): Show |
6 | 419 | 0.0143 | 3 | c.*41 others(14): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3604 | chr17 | TogoVar | |||||||
ALOX15_chr17_4625919_4646678 | 4634959 | C | CAAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(346): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
349 | 462 | 0.7554 | 3 | c.116 others(20): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 8/13 | chr17 | TogoVar | |||||||
ALOX15_chr17_4625919_4646678 | 4641683 | G | GAGA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(432): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(168): Show |
435 | 437 | 0.9954 | 3 | c.-35 others(10): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 6 | chr17 | TogoVar |