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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASS1_chr9_130439961_130506274 | 130474062 | ACC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(239): Show | 257 | 374 | 0.6872 | -2 | c.597 others(19): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130484799 | GCA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(212): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(201): Show | 215 | 374 | 0.5749 | -2 | c.838 others(19): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130495472 | TAC | T | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp2 HG02280.hp1 others(17): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0014t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0149others(15): Show | 20 | 374 | 0.0535 | -2 | c.112 others(19): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130495500 | CAT | C | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345a0001c0001t0001g0347a0001c0001t0001g0348 | 3 | 374 | 0.0080 | -2 | c.112 others(19): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130496593 | TAA | T | intron_variant | MODIFIER | HG01943.hp2 HG02717.hp1 HG02895.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0139a0001c0001t0001g0165a0001c0001t0001g0207others(4): Show | 7 | 374 | 0.0187 | -2 | c.112 others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130501278 | AGT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(80): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 83 | 374 | 0.2219 | -2 | c.*25 others(11): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5 | chr9 | TogoVar | ||||||
ASTE1_chr3_131008875_131031825 | 131010187 | CTT | C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01081.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(1): Show | 8 | 404 | 0.0198 | -2 | c.*38 others(13): Show |
ASTE1 | ENSG00000034533.12 | transcript | ENST00000264992.8 | protein_coding | 3687 | chr3 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176867508 | CTT | C | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0005a0001c0009a0001c0012 | a0001c0005t0004a0001c0005t0005a0001c0009t0004others(3): Show | a0001c0005t0004g0072a0001c0005t0004g0076a0001c0005t0004g0077others(10): Show | 13 | 112 | 0.1161 | -2 | c.364 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 22/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176904494 | TGA | T | intron_variant | MODIFIER | HG03098.hp1 HG03579.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0003t0002 | a0001c0001t0002g0012a0001c0002t0002g0032a0001c0003t0002g0064others(2): Show | 5 | 112 | 0.0446 | -2 | c.267 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176908132 | AAC | A | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0002a0001c0003t0002a0001c0005t0005others(4): Show | a0001c0002t0002g0084a0001c0003t0002g0067a0001c0005t0005g0102others(7): Show | 10 | 112 | 0.0893 | -2 | c.267 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176926288 | CAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01071.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0018others(15): Show | a0001c0001t0002g0051a0001c0001t0007g0099a0001c0001t0018g0054others(33): Show | 36 | 112 | 0.3214 | -2 | c.267 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176930593 | GAA | G | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02109.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0007 | a0001c0002t0015a0001c0009t0004a0002c0007t0016 | a0001c0002t0015g0039a0001c0009t0004g0005a0001c0009t0004g0006others(1): Show | 4 | 112 | 0.0357 | -2 | c.267 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176942834 | ATG | A | intron_variant | MODIFIER | HG02965.hp1 HG03041.hp1 NA20129.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0007others(1): Show | a0001c0002t0002a0001c0003t0002a0002c0007t0001others(1): Show | a0001c0002t0002g0013a0001c0003t0002g0079a0002c0007t0001g0046others(1): Show | 4 | 112 | 0.0357 | -2 | c.237 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176952362 | TAA | T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02809.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0002a0001c0003t0002a0001c0005t0004others(4): Show | a0001c0002t0002g0032a0001c0002t0002g0084a0001c0003t0002g0064others(11): Show | 14 | 112 | 0.1250 | -2 | c.188 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 11/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176965926 | TAA | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp1 others(24): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0002a0001c0002t0007a0001c0003t0002others(6): Show | a0001c0002t0002g0032a0001c0002t0002g0070a0001c0002t0007g0020others(24): Show | 27 | 112 | 0.2411 | -2 | c.152 others(19): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176970731 | GGT | G | intron_variant | MODIFIER | HG01192.hp1 HG02486.hp2 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0011 | a0001c0002t0002a0001c0002t0014a0002c0011t0001others(1): Show | a0001c0002t0002g0108a0001c0002t0014g0004a0002c0011t0001g0015others(2): Show | 5 | 112 | 0.0446 | -2 | c.152 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176981211 | CAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp1 others(11): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0004others(1): Show | a0001c0002t0002a0001c0002t0011a0001c0002t0015others(4): Show | a0001c0002t0002g0047a0001c0002t0011g0009a0001c0002t0015g0039others(11): Show | 14 | 112 | 0.1250 | -2 | c.152 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176985845 | TAC | T | intron_variant | MODIFIER | HG01255.hp2 HG01978.hp1 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0002others(6): Show | a0001c0001t0001g0050a0001c0001t0001g0055a0001c0001t0010g0101others(10): Show | 13 | 112 | 0.1161 | -2 | c.152 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176996261 | CCT | C | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0007g0099a0001c0002t0001g0029a0001c0002t0002g0013others(3): Show | 6 | 112 | 0.0536 | -2 | c.152 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176999698 | CAT | C | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0005a0001c0012a0002c0014 | a0001c0005t0004a0001c0005t0005a0001c0012t0005others(1): Show | a0001c0005t0004g0076a0001c0005t0004g0077a0001c0005t0005g0059others(3): Show | 6 | 112 | 0.0536 | -2 | c.152 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177002376 | AAC | A | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01071.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0035others(11): Show | 14 | 112 | 0.1250 | -2 | c.152 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177027713 | AGT | A | intron_variant | MODIFIER | HG01978.hp1 HG01993.hp2 HG02055.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0055a0001c0001t0001g0112a0001c0002t0001g0029others(15): Show | 18 | 112 | 0.1607 | -2 | c.112 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 5/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177033123 | CTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01070.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0107a0001c0002t0001g0008a0001c0002t0002g0013others(23): Show | 26 | 112 | 0.2321 | -2 | c.472 others(17): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177034244 | AAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(18): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(40): Show | 43 | 112 | 0.3839 | -2 | c.472 others(19): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177056586 | TAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0002a0001c0002t0020a0001c0003t0001others(7): Show | a0001c0002t0002g0068a0001c0002t0020g0007a0001c0003t0001g0002others(11): Show | 14 | 112 | 0.1250 | -2 | c.471 others(19): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177075645 | CTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02886.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0009a0001c0012others(2): Show | a0001c0002t0002a0001c0002t0007a0001c0009t0004others(3): Show | a0001c0002t0002g0068a0001c0002t0007g0082a0001c0009t0004g0024others(3): Show | 6 | 112 | 0.0536 | -2 | c.284 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177105644 | GAA | G | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG03130.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0002c0007others(2): Show | a0001c0001t0001a0001c0009t0005a0002c0007t0001others(2): Show | a0001c0001t0001g0088a0001c0009t0005g0025a0002c0007t0001g0046others(2): Show | 5 | 112 | 0.0446 | -2 | c.284 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177108347 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00673.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(7): Show | a0001c0001t0001g0048a0001c0001t0001g0088a0001c0001t0002g0041others(8): Show | 11 | 112 | 0.0982 | -2 | c.284 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177128006 | CAG | C | intron_variant | MODIFIER | HG01071.hp1 HG01993.hp1 HG02257.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0015a0001c0003t0008others(5): Show | a0001c0001t0001g0058a0001c0002t0015g0039a0001c0003t0008g0062others(9): Show | 12 | 112 | 0.1071 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177142909 | GGA | G | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01070.hp1 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(16): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(30): Show | 33 | 112 | 0.2946 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149146 | TGC | T | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01070.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(12): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(23): Show | 26 | 112 | 0.2321 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149194 | TAA | T | intron_variant | MODIFIER | HG02486.hp2 HG02965.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0002a0001c0003t0002a0002c0011t0001 | a0001c0001t0002g0012a0001c0003t0002g0018a0002c0011t0001g0015 | 3 | 112 | 0.0268 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149231 | TAA | T | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp1 HG02109.hp2 others(6): Show |
a0001a0003 | a0001c0002a0001c0009a0003c0010 | a0001c0002t0001a0001c0002t0007a0001c0002t0011others(4): Show | a0001c0002t0001g0008a0001c0002t0007g0020a0001c0002t0011g0009others(6): Show | 9 | 112 | 0.0804 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149255 | TAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01070.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(11): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(20): Show | 23 | 112 | 0.2054 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149292 | AGT | A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01070.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(11): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0023others(20): Show | 23 | 112 | 0.2054 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149307 | AAT | A | intron_variant | MODIFIER | HG01255.hp1 HG01993.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(2): Show | a0001c0001t0001g0110a0001c0001t0001g0112a0001c0001t0008g0086others(3): Show | 6 | 112 | 0.0536 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149345 | GTA | G | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0007 | a0001c0002t0002a0001c0003t0001a0001c0003t0008others(1): Show | a0001c0002t0002g0108a0001c0003t0001g0109a0001c0003t0008g0104others(1): Show | 4 | 112 | 0.0357 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149407 | AAT | A | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02615.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0002a0001c0002t0007a0001c0003t0002others(4): Show | a0001c0002t0002g0068a0001c0002t0007g0075a0001c0003t0002g0074others(5): Show | 8 | 112 | 0.0714 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149419 | GTA | G | intron_variant | MODIFIER | HG02257.hp2 HG02976.hp2 NA19240.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0004 | a0001c0003t0002g0067a0001c0005t0004g0076a0001c0005t0004g0077 | 3 | 112 | 0.0268 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149433 | AAT | A | intron_variant | MODIFIER | HG02257.hp2 HG02976.hp2 NA19240.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0004 | a0001c0003t0002g0067a0001c0005t0004g0076a0001c0005t0004g0077 | 3 | 112 | 0.0268 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149459 | AAT | A | intron_variant | MODIFIER | HG01192.hp1 HG02886.hp1 HG03239.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001a0001c0003t0008 | a0001c0002t0002g0108a0001c0003t0001g0109a0001c0003t0008g0104 | 3 | 112 | 0.0268 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149744 | TAC | T | intron_variant | MODIFIER | HG02896.hp2 NA18522.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0003t0002 | a0001c0002t0007g0082a0001c0003t0002g0081 | 2 | 112 | 0.0179 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177149772 | TAC | T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02976.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0007 | a0001c0002t0002a0001c0003t0002a0002c0007t0016 | a0001c0002t0002g0068a0001c0003t0002g0067a0002c0007t0016g0066 | 3 | 112 | 0.0268 | -2 | c.283 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177158655 | CGT | C | intron_variant | MODIFIER | HG00673.hp2 HG01192.hp1 HG01978.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0055a0001c0001t0002g0033a0001c0002t0001g0029others(7): Show | 10 | 112 | 0.0893 | -2 | c.283 others(19): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116419185 | TCA | T | downstream_gene_variant | MODIFIER | HG01934.hp1 HG01934.hp2 HG02004.hp1 others(5): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0002t0004a0001c0002t0010others(4): Show | a0001c0001t0006g0079a0001c0002t0004g0029a0001c0002t0004g0091others(5): Show | 8 | 102 | 0.0784 | -2 | c.*66 others(13): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3926 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116426749 | AAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(77): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0034others(77): Show | 80 | 102 | 0.7843 | -2 | c.378 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 22/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116431930 | TAA | T | intron_variant | MODIFIER | HG01081.hp1 HG02572.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0006a0001c0001t0009a0001c0003t0006others(1): Show | a0001c0001t0006g0079a0001c0001t0009g0086a0001c0003t0006g0017others(1): Show | 4 | 102 | 0.0392 | -2 | c.378 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 22/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116439193 | CAT | C | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0005a0001c0008 | a0001c0005t0005a0001c0008t0005 | a0001c0005t0005g0007a0001c0005t0005g0048a0001c0005t0005g0076others(3): Show | 6 | 102 | 0.0588 | -2 | c.378 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 22/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116441257 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01261.hp2 others(8): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0001t0003g0063a0001c0001t0003g0090a0001c0002t0003g0021others(8): Show | 11 | 102 | 0.1078 | -2 | c.359 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 21/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116444100 | ACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01081.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(14): Show | a0001c0001t0002g0040a0001c0001t0004g0060a0001c0001t0016g0075others(25): Show | 28 | 102 | 0.2745 | -2 | c.349 others(21): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar |