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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGA11_chr15_68291532_68437163 | 68308742 | AAAAGAAA others(12): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00735.hp1 others(17): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0118 a0001c0001t0001g0149 a0001c0001t0001g0192 others(17): Show |
20 | 240 | 0.0833 | -19 | c.317 others(38): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 26/29 | chr15 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368132 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 343 | 0.0029 | -19 | c.*42 others(30): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4048 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368134 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 348 | 0.0029 | -19 | c.*42 others(30): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4046 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368140 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0113 | 1 | 350 | 0.0029 | -19 | c.*42 others(30): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4040 | chr17 | TogoVar | |||||||
ITGA2_chr5_52984352_53099779 | 53004894 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0026 | a0002c0003t0026g0364 | 1 | 46 | 0.0217 | -19 | c.64+ others(36): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA2_chr5_52984352_53099779 | 53044274 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0026 | a0002c0003t0026g0364 | 1 | 6 | 0.1667 | -19 | c.296 others(34): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA4_chr2_181452386_181543940 | 181509135 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01175.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0034 others(25): Show |
30 | 200 | 0.1500 | -19 | c.169 others(36): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA6_chr2_172422586_172511459 | 172441559 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0038 | 1 | 142 | 0.0070 | -19 | c.182 others(38): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15644475 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01361.hp1 HG02273.hp1 others(7): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0185 a0001c0001t0002g0187 a0001c0001t0006g0029 others(7): Show |
10 | 218 | 0.0459 | -19 | c.120 others(36): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15694284 | AGATAATA others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0070 | 1 | 174 | 0.0057 | -19 | c.344 others(36): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 2/29 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512008 | CTTTTCTT others(12): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0103 | 1 | 163 | 0.0061 | -19 | c.898 others(36): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512009 | TTTTCTTT others(12): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 HG03579.hp1 |
a0001a0002a0011 | a0001c0003a0002c0002a0011c0027 | a0001c0003t0008a0002c0002t0012a0011c0027t0011 | a0001c0003t0008g0156 a0002c0002t0012g0003 a0011c0027t0011g0006 |
3 | 157 | 0.0191 | -19 | c.898 others(36): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512117 | CTTCTTTC others(12): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0157 | 1 | 144 | 0.0069 | -19 | c.898 others(36): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512190 | TTTTCTTT others(12): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0020 | a0001c0003t0005g0097 a0001c0003t0005g0098 a0001c0003t0020g0040 |
3 | 166 | 0.0181 | -19 | c.898 others(36): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37530717 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012 | a0002c0002t0002g0051 a0002c0002t0012g0003 |
2 | 3 | 0.6667 | -19 | c.137 others(38): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37567465 | ACCAATCA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG04204.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001 | a0001c0001t0002g0145 a0001c0001t0003g0099 a0002c0002t0001g0067 |
3 | 166 | 0.0181 | -19 | c.168 others(40): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37571202 | TACTGGAG others(12): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 NA18747.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0006 | a0001c0001t0001g0072 a0002c0002t0002g0083 a0002c0002t0006g0027 |
3 | 166 | 0.0181 | -19 | c.168 others(40): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3797143 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02109.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0014 | a0001c0001t0001a0004c0004t0001a0004c0014t0001 | a0001c0001t0001g0257 a0004c0004t0001g0258 a0004c0004t0001g0282 others(1): Show |
4 | 274 | 0.0146 | -19 | c.34+ others(34): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31272442 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 242 | 0.0041 | -19 | c.704 others(34): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31272451 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 219 | 0.0046 | -19 | c.704 others(34): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334681 | TTTCTTTC others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0038 | 1 | 231 | 0.0043 | -19 | c.*29 others(30): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1805 | chr16 | TogoVar | |||||||
ITGAV_chr2_186585056_186685901 | 186683551 | GACCATAG others(12): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0280 | 1 | 306 | 0.0033 | -19 | c.*62 others(30): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 2651 | chr2 | TogoVar | |||||||
ITGB1_chr10_32895318_32963230 | 32898454 | CATGGATG others(12): Show |
C | downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0202 | 1 | 422 | 0.0024 | -19 | c.*30 others(30): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1863 | chr10 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124807941 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0324 | 1 | 51 | 0.0196 | -19 | c.126 others(38): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124818502 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0143 | 1 | 56 | 0.0179 | -19 | c.103 others(36): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 7/14 | chr3 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101558083 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00738.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0050 others(65): Show |
69 | 81 | 0.8519 | -19 | c.317 others(36): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH1_chr3_52772599_52797062 | 52781201 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02559.hp1 HG03130.hp1 others(4): Show |
a0002a0003a0004 | a0002c0013a0003c0004a0004c0009 | a0002c0013t0001a0003c0004t0001a0004c0009t0001 | a0002c0013t0001g0050 a0003c0004t0001g0100 a0004c0009t0001g0013 others(1): Show |
7 | 390 | 0.0179 | -19 | c.688 others(34): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH1_chr3_52772599_52797062 | 52781204 | TTTTTTTC others(12): Show |
T | intron_variant | MODIFIER | HG01978.hp1 HG02897.hp1 HG03704.hp2 others(2): Show |
a0001a0002a0003 | a0001c0027a0002c0002a0003c0003others(1): Show | a0001c0027t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0027t0001g0095 a0002c0002t0001g0008 a0003c0003t0001g0005 others(1): Show |
5 | 249 | 0.0201 | -19 | c.688 others(34): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737567 | ATATATTA others(12): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02630.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0274 a0001c0001t0001g0348 |
3 | 378 | 0.0079 | -19 | c.195 others(38): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7748521 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG03831.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0182 a0002c0003t0001g0196 |
2 | 17 | 0.1176 | -19 | c.269 others(36): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH4_chr3_52807962_52835672 | 52822552 | GTGACTTT others(12): Show |
G | intron_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0090 | 1 | 388 | 0.0026 | -19 | c.153 others(37): Show |
ITIH4 | ENSG00000055955.17 | transcript | ENST00000266041.9 | protein_coding | 11/23 | chr3 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233944 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02071.hp1 HG02080.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0030 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0141 others(10): Show |
15 | 344 | 0.0436 | -19 | c.768 others(36): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233945 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG03669.hp1 NA19003.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0023 a0001c0001t0001g0115 a0001c0001t0001g0124 others(2): Show |
5 | 344 | 0.0145 | -19 | c.768 others(36): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233949 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0082 | 1 | 345 | 0.0029 | -19 | c.768 others(36): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITLN1_chr1_160871540_160890180 | 160888772 | GAGATATA others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02056.hp1 others(13): Show |
a0002 | a0002c0003a0002c0006 | a0002c0003t0001a0002c0003t0004a0002c0006t0001 | a0002c0003t0001g0007 a0002c0003t0001g0030 a0002c0003t0001g0076 others(5): Show |
16 | 426 | 0.0376 | -19 | c.-37 others(30): Show |
ITLN1 | ENSG00000179914.5 | transcript | ENST00000326245.4 | protein_coding | 3593 | chr1 | TogoVar | |||||||
ITM2B_chr13_48228206_48275357 | 48229670 | CTCTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0126 | 1 | 320 | 0.0031 | -19 | c.-36 others(30): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3535 | chr13 | TogoVar | |||||||
ITM2C_chr2_230859942_230884248 | 230867997 | TCGGTGAA others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(209): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 others(90): Show |
212 | 396 | 0.5354 | -19 | c.120 others(36): Show |
ITM2C | ENSG00000135916.16 | transcript | ENST00000326427.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93075326 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0072 | a0001c0001t0024g0010 a0001c0001t0072g0009 |
2 | 22 | 0.0909 | -19 | c.120 others(36): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4807128 | GCTTACAA others(12): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0004a0001c0033a0001c0037others(3): Show | a0001c0004t0002a0001c0033t0009a0001c0037t0001others(3): Show | a0001c0004t0002g0070 a0001c0033t0009g0114 a0001c0037t0001g0111 others(3): Show |
6 | 170 | 0.0353 | -19 | c.727 others(36): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26589816 | ATAAATAA others(12): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0062 | a0001c0062t0020 | a0001c0062t0020g0128 | 1 | 140 | 0.0071 | -19 | c.438 others(38): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | |||||||
ITPR3_chr6_33616322_33701562 | 33645112 | CACCTGAG others(12): Show |
C | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 340 | 0.0029 | -19 | c.160 others(36): Show |
ITPR3 | ENSG00000096433.11 | transcript | ENST00000605930.3 | protein_coding | 2/57 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31521616 | TTCCCTCC others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(20): Show |
a0002a0003a0006others(4): Show | a0002c0001a0003c0005a0003c0007others(5): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(9): Show | a0002c0001t0001g0191 a0002c0001t0001g0206 a0002c0001t0002g0184 others(20): Show |
23 | 266 | 0.0865 | -19 | c.-98 others(36): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRIPL1_chr2_96320317_96333353 | 96329147 | AATTATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 354 | 0.0028 | -19 | c.*84 others(28): Show |
ITPRIPL1 | ENSG00000198885.10 | transcript | ENST00000439118.3 | protein_coding | 795 | chr2 | TogoVar | |||||||
ITPRIPL2_chr16_19108964_19126629 | 19113214 | AGTCTCAC others(12): Show |
A | upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 328 | 0.0030 | -19 | c.-12 others(30): Show |
ITPRIPL2 | ENSG00000205730.7 | transcript | ENST00000381440.5 | protein_coding | 749 | chr16 | TogoVar | |||||||
JADE1_chr4_128804700_128880224 | 128811278 | CGCGGCTG others(12): Show |
C | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 276 | 0.0036 | -19 | c.-27 others(36): Show |
JADE1 | ENSG00000077684.16 | transcript | ENST00000226319.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64969897 | AGTTCAGG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0040 | 1 | 324 | 0.0031 | -19 | c.-36 others(30): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 3349 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5005083 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(7): Show | a0001c0001t0001g0151 a0001c0002t0002g0018 a0001c0002t0002g0282 others(14): Show |
18 | 41 | 0.4390 | -19 | c.-25 others(38): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK3_chr19_17819782_17852982 | 17827716 | CTAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 412 | 0.0024 | -19 | c.320 others(36): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
JAK3_chr19_17819782_17852982 | 17827717 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0152 | 1 | 34 | 0.0294 | -19 | c.320 others(36): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6160948 | CCCCTGAC others(12): Show |
C | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 226 | 0.0044 | -19 | c.-14 others(40): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar |