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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIK3_chr11_116838402_117103428 | 117075840 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01346.hp2 HG02602.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0006a0002c0004t0014 | a0001c0001t0001g0166 a0002c0004t0006g0019 a0002c0004t0006g0153 others(6): Show |
9 | 366 | 0.0246 | 5 | c.273 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 138987082 | A | ATTATT | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01069.hp2 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(68): Show |
71 | 200 | 0.3550 | 5 | c.767 others(24): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139028495 | C | CACAAA | intron_variant | MODIFIER | HG01069.hp2 HG02145.hp1 HG03471.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0070 a0001c0002t0001g0084 a0001c0002t0001g0116 others(4): Show |
7 | 200 | 0.0350 | 5 | c.454 others(22): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36702939 | G | GAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(163): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026 others(157): Show |
166 | 410 | 0.4049 | 5 | c.175 others(22): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIM2_chr21_36694115_36754917 | 36736731 | T | TCCTTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(276): Show |
287 | 410 | 0.7000 | 5 | c.851 others(22): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIM2_chr21_36694115_36754917 | 36736859 | T | TCTTTC | intron_variant | MODIFIER | HG00741.hp1 HG02976.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0041a0001c0004t0002a0001c0007t0012 | a0001c0001t0041g0054 a0001c0004t0002g0323 a0001c0007t0012g0393 |
3 | 410 | 0.0073 | 5 | c.851 others(22): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | chr21 | TogoVar | |||||||
SIMC1_chr5_176233424_176350989 | 176240992 | C | CTTGCT | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01069.hp1 others(30): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0004a0009c0014others(1): Show | a0001c0001t0001a0003c0004t0001a0009c0014t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(30): Show |
33 | 360 | 0.0917 | 5 | c.129 others(22): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176249843 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01169.hp1 NA18906.hp2 others(3): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0009 | a0001c0001t0001a0003c0004t0001a0008c0009t0001 | a0001c0001t0001g0038 a0001c0001t0001g0105 a0001c0001t0001g0123 others(3): Show |
6 | 360 | 0.0167 | 5 | c.129 others(24): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16865694 | T | TCCCTC | intron_variant | MODIFIER | HG01516.hp1 HG02735.hp1 HG03927.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0065 |
3 | 372 | 0.0081 | 5 | c.162 others(20): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16875181 | T | TTGGTC | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG03516.hp1 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0004c0009t0002 | a0001c0001t0002g0157 a0001c0001t0002g0158 a0004c0009t0002g0159 |
3 | 372 | 0.0081 | 5 | c.259 others(22): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16875552 | T | TTGGTC | intron_variant | MODIFIER | HG00733.hp1 NA18945.hp2 NA18959.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0053 a0001c0002t0003g0056 a0001c0002t0003g0059 others(1): Show |
4 | 372 | 0.0108 | 5 | c.259 others(22): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71417469 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01258.hp1 HG01884.hp1 others(7): Show |
a0001a0009 | a0001c0001a0001c0006a0009c0015 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0117 a0001c0001t0002g0018 a0001c0001t0002g0024 others(7): Show |
10 | 174 | 0.0575 | 5 | c.-46 others(26): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71496725 | C | CTCCTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0096 a0001c0001t0003g0151 a0001c0001t0003g0152 others(32): Show |
35 | 174 | 0.2012 | 5 | c.-46 others(26): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71502513 | A | AGTGCT | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01884.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(11): Show |
14 | 174 | 0.0805 | 5 | c.-46 others(26): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71550024 | T | TGAGCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(143): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(143): Show |
146 | 174 | 0.8391 | 5 | c.-30 others(26): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71590036 | A | ATATAT | intron_variant | MODIFIER | HG01258.hp1 HG02818.hp1 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0002g0097 others(1): Show |
4 | 174 | 0.0230 | 5 | c.149 others(22): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | chr14 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71633110 | T | TTGTTA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(37): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(37): Show |
40 | 174 | 0.2299 | 5 | c.181 others(24): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71633155 | A | ATGTTC | intron_variant | MODIFIER | NA18993.hp1 NA19007.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 a0001c0002t0001g0141 |
2 | 174 | 0.0115 | 5 | c.181 others(24): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71652071 | A | AAAGTG | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0005g0015 |
3 | 174 | 0.0172 | 5 | c.199 others(24): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 8/23 | chr14 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232455714 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp1 others(82): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0002c0006others(22): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(40): Show | a0001c0001t0002g0016 a0001c0001t0005g0031 a0001c0002t0001g0132 others(82): Show |
85 | 292 | 0.2911 | 5 | c.309 others(24): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 10/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232496588 | A | AAACAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00597.hp1 others(74): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(40): Show | a0001c0001t0001g0218 a0001c0001t0002g0016 a0001c0001t0005g0031 others(74): Show |
77 | 292 | 0.2637 | 5 | c.148 others(24): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232530816 | A | AAAACT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0101 others(204): Show |
207 | 292 | 0.7089 | 5 | c.-26 others(26): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232541247 | T | TTAACA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(96): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0001t0001g0143 others(96): Show |
99 | 292 | 0.3390 | 5 | c.-26 others(26): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232597689 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01167.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(15): Show | a0001c0001t0001g0094 a0001c0001t0002g0067 a0001c0001t0002g0072 others(19): Show |
22 | 292 | 0.0753 | 5 | c.-31 others(26): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232631983 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01358.hp1 HG01952.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0003a0001c0002t0003a0001c0005t0003others(9): Show | a0001c0001t0003g0244 a0001c0001t0003g0259 a0001c0002t0003g0248 others(12): Show |
15 | 292 | 0.0514 | 5 | c.-24 others(16): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1851 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37962963 | C | CTCTTT | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00642.hp2 others(35): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0164 a0001c0001t0002g0055 a0001c0001t0002g0056 others(35): Show |
38 | 164 | 0.2317 | 5 | c.-37 others(26): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37962969 | T | TCTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01258.hp2 others(37): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0002g0079 others(37): Show |
40 | 164 | 0.2439 | 5 | c.-37 others(26): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38000136 | A | ATATCC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(55): Show |
a0001a0002a0005others(9): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0002g0139 a0001c0001t0004g0036 a0001c0001t0005g0046 others(55): Show |
58 | 164 | 0.3537 | 5 | c.-37 others(26): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38077661 | C | CTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0019a0001c0004t0003 | a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0002g0159 others(2): Show |
5 | 164 | 0.0305 | 5 | c.-31 others(24): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38116538 | A | AAAAAG | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG01891.hp1 others(20): Show |
a0002a0004a0020others(2): Show | a0002c0002a0004c0039a0020c0037others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0058 a0002c0002t0001g0074 a0002c0002t0001g0083 others(20): Show |
23 | 164 | 0.1402 | 5 | c.229 others(24): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38136183 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG01169.hp2 others(41): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0001c0033others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0107 others(41): Show |
44 | 164 | 0.2683 | 5 | c.314 others(24): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38136183 | C | CAAAAT | intron_variant | MODIFIER | HG01891.hp2 HG03209.hp2 HG03486.hp2 others(2): Show |
a0001a0022 | a0001c0006a0022c0022 | a0001c0006t0009a0001c0006t0010a0022c0022t0001 | a0001c0006t0009g0140 a0001c0006t0009g0141 a0001c0006t0010g0084 others(2): Show |
5 | 164 | 0.0305 | 5 | c.314 others(24): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1_chr11_65633101_65655912 | 65646675 | G | GAGGTA | frameshift_variant | HIGH | NA19084.hp2 | a0022 | a0022c0033 | a0022c0033t0002 | a0022c0033t0002g0003 | 1 | 406 | 0.0025 | 5 | c.164 others(14): Show |
p.Ser others(5): Show |
SIPA1 | ENSG00000213445.10 | transcript | ENST00000534313.6 | protein_coding | 8/16 | 1815/3499 | 1642/3129 | 548/1042 | chr11 | TogoVar | |||
SIRPA_chr20_1890407_1945592 | 1903011 | C | CAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02027.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0013a0002c0002t0001others(7): Show | a0001c0001t0009g0300 a0001c0001t0013g0165 a0002c0002t0001g0130 others(10): Show |
13 | 418 | 0.0311 | 5 | c.79+ others(20): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRT1_chr10_67879656_67923390 | 67895733 | G | GTTTTT | intron_variant | MODIFIER | HG02071.hp2 HG04199.hp2 NA18941.hp2 others(5): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0016 | a0001c0001t0003a0001c0002t0004a0008c0016t0004 | a0001c0001t0003g0145 a0001c0002t0004g0234 a0001c0002t0004g0257 others(5): Show |
8 | 410 | 0.0195 | 5 | c.942 others(22): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT3_chr11_210030_241342 | 225413 | A | AAAAAC | intron_variant | MODIFIER | HG03139.hp2 HG03516.hp1 NA20129.hp2 |
a0001a0004 | a0001c0011a0004c0004 | a0001c0011t0001a0004c0004t0003 | a0001c0011t0001g0127 a0004c0004t0003g0059 |
3 | 414 | 0.0073 | 5 | c.808 others(22): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
SIRT3_chr11_210030_241342 | 234403 | T | TTTTTG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(116): Show |
a0001 | a0001c0001a0001c0005a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0024 others(56): Show |
119 | 414 | 0.2874 | 5 | c.282 others(20): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
SIRT3_chr11_210030_241342 | 240101 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG03139.hp1 HG03195.hp2 NA18942.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0133 a0001c0001t0002g0001 a0001c0001t0002g0040 others(4): Show |
7 | 414 | 0.0169 | 5 | c.-37 others(16): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 3760 | chr11 | TogoVar | |||||||
SIX6_chr14_60504146_60517850 | 60509419 | G | GCCGGC | frameshift_variant | HIGH | NA19077.hp2 | a0006 | a0006c0007 | a0006c0007t0016 | a0006c0007t0016g0001 | 1 | 392 | 0.0026 | 5 | c.21_ others(10): Show |
p.Asn others(3): Show |
SIX6 | ENSG00000184302.7 | transcript | ENST00000327720.6 | protein_coding | 1/2 | 275/2592 | 22/741 | 8/246 | chr14 | TogoVar | |||
SI_chr3_164973898_165083496 | 164990898 | T | TAAAAA | intron_variant | MODIFIER | HG01433.hp2 HG02145.hp2 HG02451.hp1 others(16): Show |
a0001a0004a0015 | a0001c0025a0004c0004a0004c0029others(1): Show | a0001c0025t0008a0004c0004t0004a0004c0029t0009others(1): Show | a0001c0025t0008g0021 a0004c0004t0004g0022 a0004c0004t0004g0023 others(16): Show |
19 | 266 | 0.0714 | 5 | c.510 others(22): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 44/47 | chr3 | TogoVar | |||||||
SKA1_chr18_50370046_50399168 | 50371128 | G | GAAACA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(170): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(74): Show |
173 | 387 | 0.4470 | 5 | c.-40 others(16): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 3917 | chr18 | TogoVar | |||||||
SKA1_chr18_50370046_50399168 | 50389375 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0017a0001c0004t0026 | a0001c0004t0006g0010 a0001c0004t0006g0030 a0001c0004t0006g0044 others(4): Show |
13 | 387 | 0.0336 | 5 | c.450 others(22): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SKA3_chr13_21148595_21181552 | 21153231 | A | AGACGT | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01175.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0003a0001c0003t0004a0001c0008t0003 | a0001c0001t0003g0022 a0001c0001t0003g0038 a0001c0001t0003g0039 others(9): Show |
15 | 378 | 0.0397 | 5 | c.*19 others(16): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 363 | chr13 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48198454 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01081.hp1 others(15): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0111 others(15): Show |
18 | 292 | 0.0616 | 5 | c.281 others(22): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48204958 | C | CTTTCT | intron_variant | MODIFIER | HG02647.hp1 HG03130.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0048 others(1): Show |
4 | 292 | 0.0137 | 5 | c.281 others(24): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48214930 | G | GTAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01070.hp1 others(63): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0198 a0001c0001t0001g0199 others(63): Show |
66 | 292 | 0.2260 | 5 | c.281 others(24): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48250272 | G | GTTTTT | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp1 HG03098.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0094 a0002c0002t0001g0088 a0002c0002t0001g0089 others(5): Show |
8 | 292 | 0.0274 | 5 | c.281 others(24): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48325248 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01433.hp2 others(6): Show |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0001a0001c0005t0002a0002c0004t0001 | a0001c0005t0001g0211 a0001c0005t0001g0214 a0001c0005t0001g0218 others(6): Show |
9 | 292 | 0.0308 | 5 | c.280 others(24): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48361071 | G | GTACTA | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp2 others(67): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(67): Show |
70 | 292 | 0.2397 | 5 | c.178 others(22): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48371654 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01069.hp1 others(10): Show |
a0001a0002a0003 | a0001c0005a0002c0002a0002c0004others(1): Show | a0001c0005t0001a0001c0005t0002a0002c0002t0001others(2): Show | a0001c0005t0001g0215 a0001c0005t0001g0220 a0001c0005t0001g0241 others(10): Show |
13 | 292 | 0.0445 | 5 | c.153 others(22): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 2/12 | chr17 | TogoVar |