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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIK2_chr11_111597449_111735855 | 111692350 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01070.hp1 others(24): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0040 others(24): Show |
27 | 198 | 0.1364 | -6 | c.478 others(23): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116881956 | GAATACA | G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(63): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0026others(4): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0017others(8): Show | a0001c0001t0002g0282 a0001c0002t0003g0001 a0001c0002t0003g0002 others(63): Show |
66 | 366 | 0.1803 | -6 | c.866 others(23): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 6/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116947561 | ATGTATG | A | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0011a0001c0002t0005a0002c0003t0001others(4): Show | a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0011g0036 others(16): Show |
19 | 366 | 0.0519 | -6 | c.454 others(23): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116965734 | AATATAT | A | intron_variant | MODIFIER | HG00621.hp1 HG01168.hp2 HG01169.hp2 others(10): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0002t0005others(2): Show | a0001c0001t0001g0092 a0001c0001t0001g0179 a0001c0001t0001g0214 others(10): Show |
13 | 366 | 0.0355 | -6 | c.274 others(23): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116982943 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp1 others(49): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0005others(10): Show | a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 others(49): Show |
52 | 366 | 0.1421 | -6 | c.274 others(25): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117008075 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp1 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0002g0104 others(38): Show |
41 | 366 | 0.1120 | -6 | c.274 others(25): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | CAAAAAA | C | intron_variant | MODIFIER | HG00597.hp2 HG01074.hp1 HG01433.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0022others(5): Show | a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0001g0214 others(14): Show |
17 | 366 | 0.0465 | -6 | c.274 others(25): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023605 | CAAACAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(48): Show |
a0001a0005a0009others(1): Show | a0001c0001a0005c0007a0009c0024others(1): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0030others(3): Show | a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0041 others(48): Show |
51 | 366 | 0.1393 | -6 | c.274 others(25): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117056536 | GATAGAT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(134): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0039 a0001c0001t0001g0164 a0001c0001t0001g0171 others(134): Show |
137 | 366 | 0.3743 | -6 | c.273 others(25): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117070752 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01257.hp1 others(20): Show |
a0001a0002a0010 | a0001c0001a0002c0004a0010c0021 | a0001c0001t0001a0002c0004t0006a0002c0004t0014others(1): Show | a0001c0001t0001g0164 a0002c0004t0006g0017 a0002c0004t0006g0151 others(20): Show |
23 | 366 | 0.0628 | -6 | c.273 others(25): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139055589 | ACTCTCC | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp2 others(41): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 others(41): Show |
44 | 200 | 0.2200 | -6 | c.245 others(23): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139098809 | CTTTTTT | C | intron_variant | MODIFIER | HG01258.hp1 HG01884.hp1 HG02109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0002t0001g0004 others(9): Show |
12 | 200 | 0.0600 | -6 | c.244 others(25): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139143250 | CATATAT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp2 others(59): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(59): Show |
62 | 200 | 0.3100 | -6 | c.-10 others(25): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139143306 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG01516.hp2 HG02071.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0046 a0001c0002t0001g0155 a0001c0002t0001g0156 others(1): Show |
4 | 200 | 0.0200 | -6 | c.-10 others(25): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139145608 | ATGTGGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00642.hp1 others(61): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0035 others(61): Show |
64 | 200 | 0.3200 | -6 | c.-10 others(25): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139145629 | CGTGTGT | C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01261.hp2 others(12): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0149 a0001c0001t0002g0029 a0001c0001t0002g0093 others(12): Show |
15 | 200 | 0.0750 | -6 | c.-10 others(25): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139160143 | TCACACA | T | intron_variant | MODIFIER | HG01258.hp2 NA18961.hp2 NA18974.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0093 others(1): Show |
4 | 200 | 0.0200 | -6 | c.-10 others(25): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100385669 | ATGTGTG | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(78): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(7): Show | a0001c0001t0001g0141 a0001c0001t0005g0032 a0001c0001t0005g0045 others(78): Show |
81 | 320 | 0.2531 | -6 | c.*46 others(17): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 12/12 | 4686 | chr6 | TogoVar | ||||||
SIM1_chr6_100380009_100469921 | 100398955 | GTGTGTA | G | intron_variant | MODIFIER | HG02976.hp2 HG06807.hp1 NA18998.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0001a0002c0002t0066 | a0001c0001t0006g0161 a0001c0001t0006g0227 a0002c0002t0001g0120 others(1): Show |
4 | 320 | 0.0125 | -6 | c.116 others(25): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412585 | AAGAAAG | A | intron_variant | MODIFIER | HG01516.hp1 HG02738.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003a0001c0003t0030others(1): Show | a0001c0001t0002g0288 a0001c0003t0003g0024 a0001c0003t0003g0137 others(2): Show |
5 | 320 | 0.0156 | -6 | c.116 others(25): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100450694 | TCTCACA | T | intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG01256.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0097 a0001c0001t0003g0123 a0001c0001t0003g0134 others(6): Show |
9 | 320 | 0.0281 | -6 | c.259 others(21): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100458006 | TTCTCTC | T | intron_variant | MODIFIER | HG00642.hp2 HG02056.hp1 HG02129.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0239 others(8): Show |
11 | 320 | 0.0344 | -6 | c.176 others(23): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36736789 | CTTTCTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(38): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0055 a0001c0001t0001g0094 a0001c0001t0001g0254 others(35): Show |
41 | 410 | 0.1000 | -6 | c.851 others(23): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176256349 | CATACTT | C | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 NA18522.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 a0003c0004t0001g0353 a0003c0004t0001g0354 |
3 | 360 | 0.0083 | -6 | c.129 others(25): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176299780 | CCATAGA | C | intron_variant | MODIFIER | HG01243.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0161 a0005c0005t0001g0162 a0005c0005t0001g0163 others(1): Show |
4 | 360 | 0.0111 | -6 | c.173 others(25): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176341750 | GTGATGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0001others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(85): Show |
88 | 360 | 0.2444 | -6 | c.241 others(25): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIN3A_chr15_75364379_75456690 | 75376859 | TAAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(120): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0022 others(119): Show |
123 | 324 | 0.3796 | -6 | c.338 others(23): Show |
SIN3A | ENSG00000169375.17 | transcript | ENST00000394947.8 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
SINHCAF_chr12_31275584_31331150 | 31283855 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0030 a0001c0001t0004g0301 a0001c0001t0004g0302 others(5): Show |
9 | 349 | 0.0258 | -6 | c.507 others(21): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
SINHCAF_chr12_31275584_31331150 | 31285418 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0256 a0001c0001t0004g0030 a0001c0001t0004g0301 others(7): Show |
11 | 349 | 0.0315 | -6 | c.506 others(23): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
SINHCAF_chr12_31275584_31331150 | 31287879 | AAAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01099.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0235 others(13): Show |
18 | 349 | 0.0516 | -6 | c.356 others(20): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
SINHCAF_chr12_31275584_31331150 | 31290163 | TGTTTAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0030 a0001c0001t0004g0301 a0001c0001t0004g0302 others(6): Show |
10 | 349 | 0.0287 | -6 | c.356 others(23): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
SINHCAF_chr12_31275584_31331150 | 31327721 | CAAAACA | C | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02257.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0076 a0001c0001t0001g0256 a0001c0001t0012g0300 |
3 | 349 | 0.0086 | -6 | c.-17 others(17): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 1572 | chr12 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71318678 | TTATATA | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01175.hp2 others(11): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0013 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0044 others(11): Show |
14 | 174 | 0.0805 | -6 | c.-23 others(17): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 1797 | chr14 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71387248 | CAAAAAA | C | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0016 | a0001c0001t0003a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 others(6): Show |
9 | 174 | 0.0517 | -6 | c.-46 others(27): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71416720 | TACACAC | T | intron_variant | MODIFIER | HG01192.hp1 HG02258.hp2 HG02647.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0002t0003g0001 |
3 | 174 | 0.0172 | -6 | c.-46 others(27): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71468005 | GGTGTGT | G | intron_variant | MODIFIER | HG00438.hp2 HG01496.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0066 a0001c0001t0002g0046 a0001c0001t0002g0064 |
3 | 174 | 0.0172 | -6 | c.-46 others(27): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71491761 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(21): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0167 a0001c0001t0002g0005 others(21): Show |
24 | 174 | 0.1379 | -6 | c.-46 others(27): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71542268 | TTCTTCC | T | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0002g0095 |
3 | 174 | 0.0172 | -6 | c.-30 others(27): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71671901 | CTGTGTG | C | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01081.hp2 others(31): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(31): Show |
34 | 174 | 0.1954 | -6 | c.282 others(23): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71742373 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0003g0157 others(2): Show |
5 | 174 | 0.0287 | -6 | c.*32 others(17): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 1165 | chr14 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232397626 | TATTTTA | T | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01123.hp2 HG01433.hp1 others(1): Show |
a0003a0007a0024 | a0003c0004a0007c0037a0024c0062 | a0003c0004t0001a0003c0004t0003a0007c0037t0003others(1): Show | a0003c0004t0001g0120 a0003c0004t0003g0271 a0007c0037t0003g0256 others(1): Show |
4 | 292 | 0.0137 | -6 | c.*14 others(17): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 338 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232433732 | TTATAAA | T | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG03139.hp2 others(1): Show |
a0002 | a0002c0006a0002c0008 | a0002c0006t0001a0002c0008t0004 | a0002c0006t0001g0202 a0002c0008t0004g0088 a0002c0008t0004g0090 others(1): Show |
4 | 292 | 0.0137 | -6 | c.403 others(25): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 15/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232513287 | AAATAAT | A | intron_variant | MODIFIER | HG01243.hp2 HG03239.hp2 HG04199.hp2 others(3): Show |
a0001a0002a0003 | a0001c0003a0002c0007a0002c0008others(2): Show | a0001c0003t0001a0002c0007t0003a0002c0008t0001others(2): Show | a0001c0003t0001g0091 a0002c0007t0003g0240 a0002c0007t0003g0242 others(3): Show |
6 | 292 | 0.0206 | -6 | c.148 others(23): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232525401 | ATTTTTT | A | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG02040.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0002c0007others(4): Show | a0001c0003t0002a0001c0003t0005a0001c0005t0001others(8): Show | a0001c0003t0002g0024 a0001c0003t0005g0035 a0001c0005t0001g0178 others(11): Show |
14 | 292 | 0.0480 | -6 | c.-26 others(25): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564235 | CGTGTGT | C | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00639.hp1 others(45): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0018others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(25): Show | a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0001t0001g0183 others(45): Show |
48 | 292 | 0.1644 | -6 | c.-27 others(25): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572694 | CATATAT | C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02257.hp2 others(5): Show |
a0001a0002a0008 | a0001c0002a0001c0005a0002c0007others(3): Show | a0001c0002t0001a0001c0005t0022a0002c0007t0001others(4): Show | a0001c0002t0001g0164 a0001c0005t0022g0288 a0002c0007t0001g0152 others(5): Show |
8 | 292 | 0.0274 | -6 | c.-27 others(25): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572775 | ATATATT | A | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01123.hp1 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0006others(10): Show | a0001c0001t0002g0072 a0001c0002t0002g0044 a0001c0003t0006g0003 others(11): Show |
14 | 292 | 0.0480 | -6 | c.-27 others(25): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37927521 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG01515.hp2 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0032a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0001 a0001c0001t0004g0021 a0001c0001t0005g0003 others(14): Show |
17 | 164 | 0.1037 | -6 | c.-37 others(27): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37927654 | GGTGTGT | G | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG01169.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0002g0067 a0001c0001t0004g0036 a0001c0001t0006g0024 others(14): Show |
17 | 164 | 0.1037 | -6 | c.-37 others(27): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37941081 | CACACAT | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02155.hp1 others(10): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0026others(6): Show | a0001c0001t0002a0001c0001t0023a0001c0003t0001others(8): Show | a0001c0001t0002g0079 a0001c0001t0023g0078 a0001c0003t0001g0151 others(10): Show |
13 | 164 | 0.0793 | -6 | c.-37 others(27): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |