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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIRE1_chr18_12441512_12663107 | 12593953 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 others(97): Show |
100 | 328 | 0.3049 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12603574 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 others(92): Show |
95 | 328 | 0.2896 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12605289 | TG | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(27): Show |
30 | 328 | 0.0915 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12606533 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00642.hp1 others(51): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 others(51): Show |
54 | 328 | 0.1646 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12608157 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 others(22): Show |
25 | 328 | 0.0762 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12609431 | TG | T | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0007g0002 a0001c0001t0007g0006 a0001c0001t0007g0007 others(7): Show |
10 | 328 | 0.0305 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12616846 | CA | C | intron_variant | MODIFIER | NA19009.hp1 NA19081.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0318 |
3 | 328 | 0.0092 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12617159 | AT | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(109): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0040 others(109): Show |
112 | 328 | 0.3415 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12618103 | TA | T | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010 | a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 others(2): Show |
5 | 328 | 0.0152 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12618894 | TC | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(88): Show |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 others(88): Show |
91 | 328 | 0.2774 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12621881 | CA | C | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp2 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010 | a0001c0002t0003g0265 a0001c0002t0003g0268 a0001c0002t0010g0264 |
3 | 328 | 0.0092 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12622421 | CT | C | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0062 a0001c0001t0002g0107 a0001c0001t0005g0067 others(7): Show |
10 | 328 | 0.0305 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12623159 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(137): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(137): Show |
140 | 328 | 0.4268 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12624237 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00735.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(34): Show |
37 | 328 | 0.1128 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12624542 | CA | C | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp1 HG01358.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0130 a0001c0001t0001g0158 a0001c0001t0002g0240 others(3): Show |
6 | 328 | 0.0183 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12624831 | CA | C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01257.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 others(11): Show |
14 | 328 | 0.0427 | -1 | c.372 others(10): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12626042 | GC | G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(54): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(9): Show | a0001c0001t0001g0252 a0001c0001t0003g0270 a0001c0001t0003g0271 others(54): Show |
57 | 328 | 0.1738 | -1 | c.372 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12626060 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01261.hp2 others(41): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 others(41): Show |
44 | 328 | 0.1342 | -1 | c.372 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12626886 | AT | A | intron_variant | MODIFIER | HG01975.hp1 HG02055.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0145 a0001c0001t0002g0059 a0001c0001t0002g0060 others(9): Show |
12 | 328 | 0.0366 | -1 | c.372 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12631339 | GA | G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0241 a0001c0001t0004g0042 a0001c0001t0004g0049 others(3): Show |
6 | 328 | 0.0183 | -1 | c.372 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12631486 | AG | A | intron_variant | MODIFIER | HG01515.hp2 HG01981.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0014g0018 others(1): Show |
4 | 328 | 0.0122 | -1 | c.372 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12632045 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(136): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(23): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(136): Show |
139 | 328 | 0.4238 | -1 | c.372 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12632745 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(89): Show |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 others(89): Show |
92 | 328 | 0.2805 | -1 | c.372 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12634258 | TA | T | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0023 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0208 others(3): Show |
6 | 328 | 0.0183 | -1 | c.372 others(8): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12634935 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(135): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(22): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(135): Show |
138 | 328 | 0.4207 | -1 | c.372 others(8): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12637358 | CA | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0009a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 others(96): Show |
99 | 328 | 0.3018 | -1 | c.338 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12639264 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(21): Show |
24 | 328 | 0.0732 | -1 | c.338 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12639869 | TA | T | intron_variant | MODIFIER | HG00738.hp2 HG01169.hp2 HG01515.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0146 a0001c0001t0001g0224 a0001c0001t0002g0086 others(7): Show |
10 | 328 | 0.0305 | -1 | c.338 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12641832 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 others(33): Show |
36 | 328 | 0.1098 | -1 | c.338 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12644226 | TA | T | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0007g0002 a0001c0001t0007g0006 a0001c0001t0007g0007 others(7): Show |
10 | 328 | 0.0305 | -1 | c.338 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12648890 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(219): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 others(219): Show |
222 | 328 | 0.6768 | -1 | c.337 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12649419 | AT | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0041 a0001c0003t0004g0044 a0001c0003t0004g0045 others(2): Show |
5 | 328 | 0.0152 | -1 | c.337 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12650711 | GA | G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(181): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 others(181): Show |
184 | 328 | 0.5610 | -1 | c.337 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12650876 | CA | C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0002g0086 others(10): Show |
13 | 328 | 0.0396 | -1 | c.337 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12654336 | CA | C | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02055.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0043 a0001c0001t0001g0066 a0001c0001t0001g0083 others(22): Show |
25 | 328 | 0.0762 | -1 | c.337 others(9): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12660729 | CA | C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 others(2): Show |
5 | 328 | 0.0152 | -1 | c.-28 others(6): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2623 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12661617 | CA | C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01257.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 others(11): Show |
14 | 328 | 0.0427 | -1 | c.-37 others(6): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 3511 | chr18 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89824744 | AT | A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01168.hp2 HG02451.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0004a0007c0010t0001others(1): Show | a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0166 others(6): Show |
9 | 356 | 0.0253 | -1 | c.-38 others(6): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3730 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89827091 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(281): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(281): Show |
284 | 356 | 0.7978 | -1 | c.-14 others(6): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1383 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89828236 | AC | A | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG02572.hp2 others(11): Show |
a0001 | a0001c0006a0001c0008a0001c0009others(1): Show | a0001c0006t0001a0001c0008t0001a0001c0009t0001others(1): Show | a0001c0006t0001g0007 a0001c0006t0001g0012 a0001c0006t0001g0013 others(11): Show |
14 | 356 | 0.0393 | -1 | c.-31 others(5): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 238 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89831399 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01169.hp2 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0014others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0054 a0001c0001t0001g0169 a0001c0001t0001g0279 others(10): Show |
13 | 356 | 0.0365 | -1 | c.244 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89832991 | TC | T | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG02080.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0006a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(3): Show | a0001c0001t0001g0164 a0001c0001t0003g0345 a0001c0006t0001g0012 others(10): Show |
13 | 356 | 0.0365 | -1 | c.244 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89838164 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(220): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(220): Show |
223 | 356 | 0.6264 | -1 | c.245 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89840636 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(260): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(260): Show |
263 | 356 | 0.7388 | -1 | c.245 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89842208 | AT | A | intron_variant | MODIFIER | HG03239.hp2 HG03669.hp2 HG03831.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0354 a0001c0006t0001g0007 a0001c0006t0001g0012 others(7): Show |
10 | 356 | 0.0281 | -1 | c.245 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89843690 | TG | T | intron_variant | MODIFIER | HG02080.hp2 HG02647.hp1 NA19054.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0001 | a0001c0001t0001g0175 a0001c0003t0001g0101 a0001c0003t0001g0278 others(1): Show |
4 | 356 | 0.0112 | -1 | c.245 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89843697 | TG | T | intron_variant | MODIFIER | HG03239.hp2 HG03831.hp2 NA18951.hp2 others(1): Show |
a0001 | a0001c0006a0001c0027 | a0001c0006t0001a0001c0027t0001 | a0001c0006t0001g0012 a0001c0006t0001g0014 a0001c0006t0001g0016 others(1): Show |
4 | 356 | 0.0112 | -1 | c.245 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89843724 | GA | G | intron_variant | MODIFIER | HG03139.hp1 NA18939.hp2 NA18951.hp1 others(2): Show |
a0001a0007 | a0001c0001a0001c0006a0001c0019others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0019t0001others(1): Show | a0001c0001t0001g0189 a0001c0006t0001g0007 a0001c0006t0001g0013 others(2): Show |
5 | 356 | 0.0140 | -1 | c.245 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89846517 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(295): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(295): Show |
298 | 356 | 0.8371 | -1 | c.288 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89849844 | CT | C | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01346.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0001 | a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0082 others(4): Show |
7 | 356 | 0.0197 | -1 | c.289 others(8): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |