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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGB2_chr21_44880953_44925899 | 44883772 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0012others(1): Show | a0001c0001t0004a0001c0006t0004a0001c0012t0004others(1): Show | a0001c0001t0004g0280 a0001c0001t0004g0300 a0001c0001t0004g0345 others(5): Show |
8 | 171 | 0.0468 | 7 | c.*25 others(18): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 2180 | chr21 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44895879 | A | ATGAAATG | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01069.hp2 others(16): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(1): Show | a0001c0001t0002g0217 a0001c0003t0002g0006 a0001c0003t0002g0007 others(13): Show |
19 | 393 | 0.0483 | 7 | c.994 others(22): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 8/15 | chr21 | TogoVar | |||||||
ITGB3BP_chr1_63435770_63528225 | 63472443 | T | TCCCTCTC | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01167.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0218 others(22): Show |
26 | 183 | 0.1421 | 7 | c.254 others(24): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124771748 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG03942.hp1 others(12): Show |
a0001a0002a0004 | a0001c0002a0001c0013a0002c0003others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0013t0017others(3): Show | a0001c0002t0003g0070 a0001c0002t0003g0263 a0001c0002t0003g0281 others(12): Show |
15 | 203 | 0.0739 | 7 | c.191 others(26): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101628057 | C | CACCAGCA | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(49): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0141 others(48): Show |
52 | 304 | 0.1711 | 7 | c.101 others(28): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101671426 | G | GTTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01175.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0007t0001others(1): Show | a0001c0001t0001g0124 a0001c0001t0001g0157 a0001c0001t0001g0187 others(5): Show |
8 | 166 | 0.0482 | 7 | c.101 others(28): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101689211 | T | TAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02280.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0208 a0001c0005t0001g0033 others(4): Show |
7 | 9 | 0.7778 | 7 | c.101 others(26): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737666 | T | TCTATAGA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(69): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0022others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(68): Show |
72 | 368 | 0.1957 | 7 | c.195 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | chr10 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7737687 | T | TCTATAGA | intron_variant | MODIFIER | HG02074.hp2 NA18953.hp1 NA18989.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0089 others(3): Show |
6 | 336 | 0.0179 | 7 | c.195 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | chr10 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7748521 | C | CTTTTTTT | intron_variant | MODIFIER | HG01981.hp1 HG03491.hp1 HG03669.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0122 others(4): Show |
7 | 22 | 0.3182 | 7 | c.269 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233964 | T | TATATATA | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01516.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0022 others(11): Show |
15 | 293 | 0.0512 | 7 | c.768 others(24): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4610999 | C | CTCCTTCT | intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0026a0001c0040 | a0001c0001t0020a0001c0026t0018a0001c0040t0001 | a0001c0001t0020g0123 a0001c0026t0018g0117 a0001c0040t0001g0012 |
3 | 166 | 0.0181 | 7 | c.164 others(26): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | chr3 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26556562 | T | TGTGTGTG | intron_variant | MODIFIER | HG01433.hp2 HG02040.hp2 |
a0001 | a0001c0013a0001c0040 | a0001c0013t0022a0001c0040t0005 | a0001c0013t0022g0131 a0001c0040t0005g0006 |
2 | 118 | 0.0169 | 7 | c.482 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 35/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26556564 | T | TGTGTGTG | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 NA20805.hp2 |
a0001 | a0001c0012a0001c0013 | a0001c0012t0006a0001c0012t0039a0001c0013t0022 | a0001c0012t0006g0087 a0001c0012t0039g0086 a0001c0013t0022g0122 |
3 | 98 | 0.0306 | 7 | c.482 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 35/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26556566 | T | TGTGTGTG | intron_variant | MODIFIER | HG01071.hp1 HG01261.hp2 NA20752.hp2 |
a0001 | a0001c0002a0001c0027 | a0001c0002t0001a0001c0027t0055a0001c0027t0056 | a0001c0002t0001g0078 a0001c0027t0055g0137 a0001c0027t0056g0138 |
3 | 47 | 0.0638 | 7 | c.482 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 35/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26567960 | A | ATATATAT | intron_variant | MODIFIER | HG03195.hp2 HG03239.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0040a0001c0006t0001 | a0001c0002t0040g0054 a0001c0006t0001g0067 |
2 | 139 | 0.0144 | 7 | c.463 others(26): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26775901 | T | TGAGTCAA | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02451.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0049a0003c0032others(1): Show | a0001c0001t0007a0001c0049t0028a0003c0032t0009others(1): Show | a0001c0001t0007g0053 a0001c0049t0028g0103 a0003c0032t0009g0056 others(1): Show |
4 | 140 | 0.0286 | 7 | c.163 others(26): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26784357 | C | CTCCACGG | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01256.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0012a0001c0018others(2): Show | a0001c0001t0001a0001c0012t0005a0001c0018t0047others(3): Show | a0001c0001t0001g0041 a0001c0012t0005g0010 a0001c0018t0047g0112 others(3): Show |
6 | 108 | 0.0556 | 7 | c.163 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26784357 | C | CTCCGCGG | intron_variant | MODIFIER | HG01361.hp2 HG01496.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0021a0001c0028a0001c0062 | a0001c0021t0002a0001c0028t0001a0001c0028t0010others(1): Show | a0001c0021t0002g0050 a0001c0028t0001g0023 a0001c0028t0010g0127 others(1): Show |
4 | 106 | 0.0377 | 7 | c.163 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR3_chr6_33616322_33701562 | 33661992 | G | GAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0033a0001c0085a0002c0006others(1): Show | a0001c0033t0001a0001c0085t0001a0002c0006t0002others(1): Show | a0001c0033t0001g0061 a0001c0033t0001g0100 a0001c0085t0001g0192 others(5): Show |
8 | 91 | 0.0879 | 7 | c.712 others(22): Show |
ITPR3 | ENSG00000096433.11 | transcript | ENST00000605930.3 | protein_coding | 7/57 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31627659 | C | CAAAAAAA | intron_variant | MODIFIER | HG01993.hp1 HG02129.hp1 HG02132.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0002a0001c0003t0007a0002c0001t0002others(7): Show | a0001c0002t0002g0095 a0001c0002t0002g0103 a0001c0002t0002g0121 others(16): Show |
19 | 22 | 0.8636 | 7 | c.122 others(28): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33680323 | C | CTTTTCTT | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01952.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0028others(2): Show | a0001c0001t0019a0001c0002t0015a0001c0028t0058others(3): Show | a0001c0001t0019g0080 a0001c0002t0015g0081 a0001c0028t0058g0153 others(4): Show |
7 | 240 | 0.0292 | 7 | c.-33 others(26): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33753761 | T | TAAAAAAA | intron_variant | MODIFIER | HG01358.hp1 HG01891.hp1 HG02273.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0042a0001c0003t0004others(2): Show | a0001c0001t0003g0072 a0001c0001t0003g0160 a0001c0002t0042g0060 others(3): Show |
6 | 132 | 0.0455 | 7 | c.624 others(24): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 7/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33876102 | C | CTCTTTCT | intron_variant | MODIFIER | HG01192.hp1 HG02735.hp1 HG03017.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(2): Show | a0001c0001t0002g0135 a0001c0001t0003g0051 a0001c0001t0003g0099 others(7): Show |
10 | 214 | 0.0467 | 7 | c.434 others(24): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IYD_chr6_150364012_150410969 | 150367990 | T | TTTCTTTC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG03017.hp2 NA18964.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0002g0108 a0001c0001t0003g0174 others(1): Show |
5 | 383 | 0.0131 | 7 | c.-10 others(18): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1021 | chr6 | TogoVar | |||||||
IZUMO2_chr19_50147548_50168281 | 50150827 | C | CAAAAAAT | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02630.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0032 others(6): Show |
12 | 392 | 0.0306 | 7 | c.*17 others(18): Show |
IZUMO2 | ENSG00000161652.13 | transcript | ENST00000293405.8 | protein_coding | 1720 | chr19 | TogoVar | |||||||
JADE2_chr5_134520670_134588227 | 134531883 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG01515.hp1 HG01934.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(6): Show | a0001c0001t0002g0231 a0001c0001t0002g0351 a0001c0001t0008g0305 others(11): Show |
14 | 117 | 0.1197 | 7 | c.1-3 others(20): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JADE2_chr5_134520670_134588227 | 134587504 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02055.hp1 others(8): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0134 others(8): Show |
11 | 60 | 0.1833 | 7 | c.*81 others(18): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4278 | chr5 | TogoVar | |||||||
JAG1_chr20_10632684_10678999 | 10669547 | C | CAAAAAAA | intron_variant | MODIFIER | HG02602.hp1 HG03195.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0004a0001c0008t0001others(2): Show | a0001c0001t0001g0385 a0001c0001t0001g0388 a0001c0002t0004g0387 others(3): Show |
6 | 41 | 0.1463 | 7 | c.387 others(24): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 2/25 | chr20 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64833091 | G | GTGTTGTT | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01168.hp1 HG01261.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0110 others(11): Show |
14 | 236 | 0.0593 | 7 | c.*14 others(18): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 137 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64897509 | A | AGGAGGAG | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp1 HG01952.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0110 others(25): Show |
28 | 316 | 0.0886 | 7 | c.-77 others(26): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64928778 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00621.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0042 others(46): Show |
51 | 279 | 0.1828 | 7 | c.-78 others(26): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64928787 | A | AAAAAAAC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(86): Show |
89 | 222 | 0.4009 | 7 | c.-78 others(26): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64970134 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00738.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0083 others(54): Show |
57 | 67 | 0.8507 | 7 | c.-38 others(18): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 3586 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5057635 | C | CACAATGG | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0033 | a0001c0004t0004g0006 a0001c0004t0004g0036 a0001c0004t0004g0037 others(13): Show |
16 | 362 | 0.0442 | 7 | c.105 others(26): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK3_chr19_17819782_17852982 | 17827813 | A | AATTGCTT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(29): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0003g0183 a0001c0001t0004g0330 a0001c0001t0005g0261 others(23): Show |
32 | 412 | 0.0777 | 7 | c.320 others(24): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6102722 | C | CTTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0064 a0001c0001t0001g0077 others(5): Show |
8 | 28 | 0.2857 | 7 | c.624 others(24): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6169603 | T | TGTGTGTG | intron_variant | MODIFIER | HG01516.hp2 HG02280.hp1 HG02698.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0002 | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0050 others(7): Show |
10 | 65 | 0.1538 | 7 | c.-14 others(28): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132149722 | C | CTACCCCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0013a0001c0017others(15): Show | a0001c0006t0024a0001c0013t0001a0001c0013t0015others(29): Show | a0001c0006t0024g0155 a0001c0013t0001g0094 a0001c0013t0001g0130 others(52): Show |
55 | 94 | 0.5851 | 7 | c.194 others(24): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132167836 | G | GCCCTCGC | intron_variant | MODIFIER | NA18944.hp1 NA18966.hp1 NA19088.hp1 |
a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 |
3 | 153 | 0.0196 | 7 | c.*23 others(21): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132167857 | C | CCTCTCGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(86): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0013others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(47): Show | a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0026 others(86): Show |
89 | 156 | 0.5705 | 7 | c.*23 others(20): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp2 others(56): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0013others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(38): Show | a0001c0001t0001g0117 a0001c0001t0003g0097 a0001c0001t0006g0006 others(56): Show |
59 | 75 | 0.7867 | 7 | c.*11 others(28): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0188 a0001c0001t0002g0301 a0001c0001t0002g0302 others(7): Show |
10 | 153 | 0.0654 | 7 | c.67+ others(24): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660783 | T | TATATATA | intron_variant | MODIFIER | HG00438.hp2 HG02683.hp2 HG03688.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0181 a0001c0002t0003g0150 a0001c0002t0003g0162 others(5): Show |
8 | 289 | 0.0277 | 7 | c.67+ others(24): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | chr21 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15242344 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp2 others(88): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(34): Show | a0001c0001t0001g0051 a0001c0001t0001g0109 a0001c0001t0001g0113 others(88): Show |
91 | 217 | 0.4194 | 7 | c.-41 others(18): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3724 | chr6 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15278585 | C | CAAAAAAT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00621.hp2 others(19): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0011a0001c0002t0001others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0245 a0001c0001t0002g0246 others(19): Show |
22 | 282 | 0.0780 | 7 | c.45+ others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15456878 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01071.hp1 HG02080.hp2 others(11): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0026a0001c0003t0001others(9): Show | a0001c0002t0001g0003 a0001c0002t0001g0054 a0001c0002t0026g0185 others(11): Show |
14 | 17 | 0.8235 | 7 | c.493 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15469353 | C | CCTCCCCT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00621.hp2 others(43): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0027others(17): Show | a0001c0001t0002g0002 a0001c0001t0002g0107 a0001c0001t0002g0245 others(43): Show |
46 | 282 | 0.1631 | 7 | c.670 others(22): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | chr6 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15473514 | G | GCCCCCCC | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG02004.hp2 others(14): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0134 a0001c0001t0001g0237 a0001c0001t0002g0039 others(14): Show |
17 | 33 | 0.5152 | 7 | c.670 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15494413 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00621.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(21): Show | a0001c0001t0001g0021 a0001c0001t0001g0237 a0001c0001t0002g0142 others(53): Show |
56 | 115 | 0.4870 | 7 | c.907 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |