regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALK_chr2_29187774_29926586 | 29286928 | ATTT | A | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01109.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0009a0001c0053others(12): Show | a0001c0006t0007a0001c0009t0005a0001c0053t0001others(12): Show | a0001c0006t0007g0056a0001c0009t0005g0018a0001c0053t0001g0070others(13): Show | 16 | 80 | 0.2000 | -3 | c.181 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 9/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29288956 | AAAT | A | intron_variant | MODIFIER | HG02071.hp1 HG02572.hp1 HG02738.hp2 others(1): Show |
a0002a0003a0008 | a0002c0001a0003c0012a0003c0054others(1): Show | a0002c0001t0001a0003c0012t0002a0003c0054t0002others(1): Show | a0002c0001t0001g0063a0003c0012t0002g0067a0003c0054t0002g0069others(1): Show | 4 | 80 | 0.0500 | -3 | c.181 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 9/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29313490 | TGCC | T | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01884.hp1 others(2): Show |
a0001a0002a0003 | a0001c0009a0001c0020a0002c0014others(2): Show | a0001c0009t0005a0001c0020t0005a0002c0014t0001others(2): Show | a0001c0009t0005g0054a0001c0020t0005g0005a0002c0014t0001g0009others(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 | 29347353 | TGGA | T | intron_variant | MODIFIER | HG03139.hp2 NA18906.hp1 |
a0003 | a0003c0026a0003c0034 | a0003c0026t0002a0003c0034t0002 | a0003c0026t0002g0015a0003c0034t0002g0071 | 2 | 80 | 0.0250 | -3 | c.128 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 5/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29351814 | GGAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01109.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(27): Show | a0001c0004t0008a0001c0006t0001a0001c0009t0005others(27): Show | a0001c0004t0008g0003a0001c0006t0001g0026a0001c0009t0005g0054others(33): Show | 36 | 80 | 0.4500 | -3 | c.128 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 5/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29353003 | CCTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01106.hp1 others(6): Show |
a0001a0003a0006 | a0001c0004a0001c0006a0001c0009others(6): Show | a0001c0004t0001a0001c0006t0007a0001c0009t0005others(6): Show | a0001c0004t0001g0021a0001c0006t0007g0056a0001c0009t0005g0018others(6): Show | 9 | 80 | 0.1125 | -3 | c.128 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 5/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29403709 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01074.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0020a0001c0033others(4): Show | a0001c0006t0001a0001c0020t0005a0001c0033t0001others(4): Show | a0001c0006t0001g0026a0001c0020t0005g0005a0001c0033t0001g0029others(5): Show | 8 | 80 | 0.1000 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29420156 | TAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG02071.hp2 others(3): Show |
a0001a0002a0003 | a0001c0009a0002c0001a0003c0003others(3): Show | a0001c0009t0005a0002c0001t0001a0003c0003t0002others(3): Show | a0001c0009t0005g0054a0002c0001t0001g0062a0003c0003t0002g0038others(3): Show | 6 | 80 | 0.0750 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29446098 | CAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02486.hp1 others(1): Show |
a0001a0004a0005 | a0001c0037a0001c0038a0004c0045others(1): Show | a0001c0037t0005a0001c0038t0001a0004c0045t0002others(1): Show | a0001c0037t0005g0028a0001c0038t0001g0035a0004c0045t0002g0043others(1): Show | 4 | 80 | 0.0500 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29446730 | GACC | G | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01891.hp1 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0004a0001c0006a0001c0009others(5): Show | a0001c0004t0008a0001c0006t0001a0001c0009t0005others(5): Show | a0001c0004t0008g0003a0001c0006t0001g0036a0001c0009t0005g0018others(6): Show | 9 | 80 | 0.1125 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29467242 | GAAA | G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02258.hp2 others(2): Show |
a0001a0004 | a0001c0004a0001c0006a0001c0037others(1): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(2): Show | a0001c0004t0001g0037a0001c0004t0008g0003a0001c0006t0001g0036others(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 | 29467915 | TTTA | T | intron_variant | MODIFIER | HG00738.hp2 HG03195.hp1 |
a0001a0004 | a0001c0058a0004c0002 | a0001c0058t0001a0004c0002t0003 | a0001c0058t0001g0024a0004c0002t0003g0041 | 2 | 80 | 0.0250 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29482742 | TAAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(53): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0006a0001c0009others(40): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(41): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0006t0001g0026others(53): Show | 56 | 80 | 0.7000 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29484877 | TTTG | T | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02258.hp2 others(1): Show |
a0001a0004 | a0001c0004a0001c0006a0001c0037others(1): Show | a0001c0004t0008a0001c0006t0001a0001c0037t0005others(1): Show | a0001c0004t0008g0003a0001c0006t0001g0036a0001c0037t0005g0028others(1): Show | 4 | 80 | 0.0500 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29500034 | ACTC | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 |
a0002 | a0002c0030a0002c0036 | a0002c0030t0001a0002c0036t0015 | a0002c0030t0001g0060a0002c0036t0015g0080 | 2 | 80 | 0.0250 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29508733 | CAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02738.hp1 HG03041.hp1 others(1): Show |
a0001a0003 | a0001c0009a0001c0017a0001c0022others(1): Show | a0001c0009t0005a0001c0017t0001a0001c0022t0001others(1): Show | a0001c0009t0005g0054a0001c0017t0001g0012a0001c0022t0001g0007others(1): Show | 4 | 80 | 0.0500 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29517043 | ACTT | A | intron_variant | MODIFIER | HG00140.hp2 HG02145.hp1 |
a0002 | a0002c0001a0002c0014 | a0002c0001t0001a0002c0014t0001 | a0002c0001t0001g0061a0002c0014t0001g0009 | 2 | 80 | 0.0250 | -3 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29525791 | CAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01074.hp2 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0009others(24): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(26): Show | a0001c0004t0001g0037a0001c0004t0008g0003a0001c0006t0001g0026others(30): Show | 33 | 80 | 0.4125 | -3 | c.115 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29530062 | CTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG03041.hp1 others(4): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0017others(4): Show | a0001c0004t0001a0001c0006t0007a0001c0017t0001others(4): Show | a0001c0004t0001g0037a0001c0006t0007g0056a0001c0017t0001g0012others(4): Show | 7 | 80 | 0.0875 | -3 | c.115 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29549030 | AAGG | A | intron_variant | MODIFIER | HG02280.hp1 NA19043.hp1 |
a0001a0004 | a0001c0004a0004c0042 | a0001c0004t0001a0004c0042t0003 | a0001c0004t0001g0037a0004c0042t0003g0073 | 2 | 80 | 0.0250 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29562375 | CACT | C | intron_variant | MODIFIER | HG01891.hp1 HG03453.hp2 |
a0001 | a0001c0016a0001c0037 | a0001c0016t0007a0001c0037t0005 | a0001c0016t0007g0004a0001c0037t0005g0028 | 2 | 80 | 0.0250 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29570070 | TAAC | T | intron_variant | MODIFIER | HG02257.hp1 HG03209.hp1 |
a0002 | a0002c0011a0002c0052 | a0002c0011t0001a0002c0052t0001 | a0002c0011t0001g0042a0002c0052t0001g0017 | 2 | 80 | 0.0250 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29587436 | ACTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01106.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0001a0002c0007others(9): Show | a0001c0004t0001a0001c0004t0008a0002c0001t0001others(10): Show | a0001c0004t0001g0037a0001c0004t0008g0003a0002c0001t0001g0027others(13): Show | 16 | 80 | 0.2000 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29591070 | CAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG02451.hp2 HG02895.hp2 others(2): Show |
a0001a0003 | a0001c0009a0001c0058a0003c0010others(1): Show | a0001c0009t0005a0001c0058t0001a0003c0010t0006others(1): Show | a0001c0009t0005g0054a0001c0058t0001g0024a0003c0010t0006g0001others(2): Show | 5 | 80 | 0.0625 | -3 | c.953 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29716994 | TCCA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0016others(27): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(28): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0006t0001g0026others(38): Show | 41 | 80 | 0.5125 | -3 | c.787 others(18): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29739240 | TAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG02109.hp1 HG02280.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0048a0002c0008a0002c0056others(5): Show | a0001c0048t0001a0002c0008t0001a0002c0056t0001others(5): Show | a0001c0048t0001g0047a0002c0008t0001g0044a0002c0056t0001g0040others(5): Show | 8 | 80 | 0.1000 | -3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29761844 | TAGA | T | intron_variant | MODIFIER | HG00738.hp2 NA19043.hp1 |
a0001 | a0001c0004a0001c0058 | a0001c0004t0001a0001c0058t0001 | a0001c0004t0001g0037a0001c0058t0001g0024 | 2 | 80 | 0.0250 | -3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29784713 | AAAC | A | intron_variant | MODIFIER | HG02622.hp2 HG03453.hp2 |
a0001 | a0001c0016a0001c0050 | a0001c0016t0007a0001c0050t0014 | a0001c0016t0007g0004a0001c0050t0014g0078 | 2 | 80 | 0.0250 | -3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29814834 | ATTG | A | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02258.hp1 others(3): Show |
a0002a0003a0004 | a0002c0001a0002c0008a0002c0030others(3): Show | a0002c0001t0001a0002c0008t0001a0002c0030t0001others(3): Show | a0002c0001t0001g0062a0002c0008t0001g0049a0002c0030t0001g0060others(3): Show | 6 | 80 | 0.0750 | -3 | c.668 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830955 | AAAG | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02486.hp1 others(2): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0016others(2): Show | a0001c0004t0008a0001c0006t0001a0001c0016t0007others(2): Show | a0001c0004t0008g0003a0001c0006t0001g0036a0001c0016t0007g0004others(2): Show | 5 | 80 | 0.0625 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831059 | AGGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01074.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0017a0001c0023others(12): Show | a0001c0009t0005a0001c0017t0001a0001c0023t0010others(12): Show | a0001c0009t0005g0018a0001c0009t0005g0054a0001c0017t0001g0012others(14): Show | 17 | 80 | 0.2125 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831070 | GGGA | G | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02055.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0016a0002c0001others(6): Show | a0001c0006t0007a0001c0016t0007a0002c0001t0001others(6): Show | a0001c0006t0007g0056a0001c0016t0007g0004a0002c0001t0001g0027others(6): Show | 9 | 80 | 0.1125 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831108 | GAGA | G | intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0004a0001c0040 | a0001c0004t0001a0001c0040t0001 | a0001c0004t0001g0021a0001c0040t0001g0022 | 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 | 29831178 | AGGG | A | intron_variant | MODIFIER | HG00323.hp1 HG02071.hp1 HG02572.hp2 others(1): Show |
a0002a0003a0005 | a0002c0001a0002c0011a0003c0015others(1): Show | a0002c0001t0001a0002c0011t0001a0003c0015t0002others(1): Show | a0002c0001t0001g0063a0002c0011t0001g0042a0003c0015t0002g0010others(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 | 29831189 | AAGG | A | intron_variant | MODIFIER | HG02895.hp1 HG03453.hp1 |
a0001a0004 | a0001c0039a0004c0002 | a0001c0039t0013a0004c0002t0003 | a0001c0039t0013g0079a0004c0002t0003g0058 | 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 | 29831232 | AGAG | A | intron_variant | MODIFIER | HG00738.hp2 NA19240.hp2 |
a0001a0005 | a0001c0058a0005c0046 | a0001c0058t0001a0005c0046t0004 | a0001c0058t0001g0024a0005c0046t0004g0053 | 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 | 29831259 | GGAA | G | intron_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG02895.hp1 others(2): Show |
a0001a0002a0004 | a0001c0016a0001c0027a0001c0039others(2): Show | a0001c0016t0007a0001c0027t0001a0001c0039t0013others(2): Show | a0001c0016t0007g0004a0001c0027t0001g0013a0001c0039t0013g0079others(2): Show | 5 | 80 | 0.0625 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29853791 | CCCT | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01123.hp2 others(5): Show |
a0001a0002a0003 | a0001c0006a0001c0035a0001c0058others(5): Show | a0001c0006t0001a0001c0035t0001a0001c0058t0001others(5): Show | a0001c0006t0001g0026a0001c0035t0001g0068a0001c0058t0001g0024others(5): Show | 8 | 80 | 0.1000 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29906937 | GTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG00738.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0022a0001c0033others(7): Show | a0001c0006t0001a0001c0022t0001a0001c0033t0001others(7): Show | a0001c0006t0001g0026a0001c0022t0001g0007a0001c0033t0001g0029others(10): Show | 13 | 80 | 0.1625 | -3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29908438 | CCTT | C | intron_variant | MODIFIER | HG01433.hp2 HG03139.hp2 |
a0003a0006 | a0003c0026a0006c0029 | a0003c0026t0002a0006c0029t0001 | a0003c0026t0002g0015a0006c0029t0001g0016 | 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 | 29910968 | AAAC | A | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp1 |
a0002a0003 | a0002c0007a0003c0003 | a0002c0007t0001a0003c0003t0002 | a0002c0007t0001g0066a0003c0003t0002g0065 | 2 | 80 | 0.0250 | -3 | c.667 others(20): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29925650 | GATA | G | upstream_gene_variant | MODIFIER | HG01433.hp2 HG03139.hp2 |
a0003a0006 | a0003c0026a0006c0029 | a0003c0026t0002a0006c0029t0001 | a0003c0026t0002g0015a0006c0029t0001g0016 | 2 | 80 | 0.0250 | -3 | c.-49 others(14): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4065 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3657641 | GTTC | G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG02886.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0002c0002t0002a0002c0009t0002 | a0001c0001t0001g0015a0002c0002t0002g0014a0002c0009t0002g0013 | 3 | 274 | 0.0110 | -3 | c.-71 others(12): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 558 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02280.hp1 others(4): Show |
a0002a0003 | a0002c0013a0003c0003 | a0002c0013t0002a0003c0003t0002 | a0002c0013t0002g0030a0003c0003t0002g0021a0003c0003t0002g0029others(4): Show | 7 | 274 | 0.0256 | -3 | c.-62 others(20): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3701561 | GGAA | G | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(138): Show |
a0002a0003a0005others(5): Show | a0002c0002a0002c0005a0002c0009others(10): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(15): Show | a0002c0002t0001g0048a0002c0002t0001g0064a0002c0002t0001g0065others(131): Show | 141 | 274 | 0.5146 | -3 | c.908 others(10): Show |
p.Glu others(6): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 11/12 | 1065/1441 | 908/1176 | 303/391 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
ALLC_chr2_3653200_3707671 | 3703299 | AGCC | A | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02056.hp2 HG02071.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0050a0002c0002t0002g0002a0003c0003t0001g0047others(20): Show | 23 | 274 | 0.0839 | -3 | c.*73 others(12): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 629 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3703303 | GCCT | G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG02723.hp1 others(5): Show |
a0002a0004a0007 | a0002c0009a0004c0004a0007c0008 | a0002c0009t0002a0004c0004t0001a0004c0004t0002others(3): Show | a0002c0009t0002g0013a0004c0004t0001g0037a0004c0004t0001g0153others(5): Show | 8 | 274 | 0.0292 | -3 | c.*74 others(12): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 633 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3704179 | CGCA | C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
a0003 | a0003c0003a0003c0010 | a0003c0003t0002a0003c0010t0004 | a0003c0003t0002g0020a0003c0003t0002g0027a0003c0003t0002g0034others(5): Show | 8 | 274 | 0.0292 | -3 | c.*16 others(14): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1509 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73385903 | TGGA | T | disruptive_inframe_deletion | MODERATE | HG00642.hp2 HG01346.hp1 HG01433.hp2 others(16): Show |
a0005a0021a0022others(1): Show | a0005c0005a0005c0058a0021c0029others(2): Show | a0005c0005t0001a0005c0058t0001a0021c0029t0001others(2): Show | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(16): Show | 19 | 248 | 0.0766 | -3 | c.72_ others(8): Show |
p.Glu others(5): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 105/12844 | 72/12507 | 24/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
ALMS1_chr2_73380836_73614916 | 73410816 | CTAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
a0006a0008a0026others(2): Show | a0006c0007a0006c0010a0008c0008others(3): Show | a0006c0007t0001a0006c0010t0001a0008c0008t0001others(3): Show | a0006c0007t0001g0098a0006c0007t0001g0099a0006c0007t0001g0100others(17): Show | 20 | 248 | 0.0807 | -3 | c.450 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |