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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGA4_chr2_181452386_181543940 | 181509135 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02055.hp1 others(10): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0003a0001c0002t0012a0001c0002t0014others(4): Show | a0001c0002t0003g0009 a0001c0002t0012g0337 a0001c0002t0012g0338 others(9): Show |
13 | 368 | 0.0353 | -15 | c.169 others(32): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA6_chr2_172422586_172511459 | 172441559 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 352 | 0.0028 | -15 | c.182 others(34): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15546854 | GGGGAAGG others(8): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG01891.hp1 others(17): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0007a0001c0008others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0036others(10): Show | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0170 others(17): Show |
20 | 220 | 0.0909 | -15 | c.288 others(34): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 27/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15591405 | ATATATTA others(8): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 220 | 0.0046 | -15 | c.229 others(32): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 22/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15644479 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01993.hp2 HG02129.hp2 HG03490.hp2 others(4): Show |
a0001a0009 | a0001c0001a0009c0016 | a0001c0001t0001a0001c0001t0018a0001c0001t0025others(1): Show | a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0184 others(4): Show |
7 | 220 | 0.0318 | -15 | c.120 others(32): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15720862 | CTTCTTCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 | 1 | 220 | 0.0046 | -15 | c.-11 others(26): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 941 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15721959 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG03195.hp2 HG03225.hp2 |
a0001a0012 | a0001c0001a0012c0023 | a0001c0001t0038a0001c0001t0041a0012c0023t0040 | a0001c0001t0038g0213 a0001c0001t0041g0215 a0012c0023t0040g0214 |
3 | 220 | 0.0136 | -15 | c.-22 others(26): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 2038 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37511964 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG02886.hp2 HG03041.hp2 others(1): Show |
a0001a0002a0004 | a0001c0014a0002c0017a0004c0009 | a0001c0014t0002a0002c0017t0004a0004c0009t0002others(1): Show | a0001c0014t0002g0108 a0002c0017t0004g0042 a0004c0009t0002g0106 others(1): Show |
4 | 168 | 0.0238 | -15 | c.898 others(32): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512120 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0100 a0001c0001t0003g0099 |
2 | 168 | 0.0119 | -15 | c.898 others(32): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37526516 | CCCTGGGG others(8): Show |
C | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0009 | 1 | 168 | 0.0060 | -15 | c.137 others(32): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37530717 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01168.hp2 others(3): Show |
a0002a0007 | a0002c0002a0007c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(2): Show | a0002c0002t0001g0101 a0002c0002t0001g0121 a0002c0002t0002g0057 others(3): Show |
6 | 168 | 0.0357 | -15 | c.137 others(34): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37583399 | TATCATCA others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0073 others(107): Show |
110 | 168 | 0.6548 | -15 | c.168 others(36): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37697307 | GTTATTAT others(8): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
a0002a0003a0004 | a0002c0002a0002c0007a0003c0008others(1): Show | a0002c0002t0010a0002c0007t0005a0003c0008t0024others(1): Show | a0002c0002t0010g0065 a0002c0007t0005g0095 a0002c0007t0005g0096 others(2): Show |
5 | 168 | 0.0298 | -15 | c.206 others(36): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAD_chr16_31388335_31431505 | 31397062 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0090 a0001c0002t0001g0091 |
2 | 376 | 0.0053 | -15 | c.138 others(30): Show |
ITGAD | ENSG00000156886.12 | transcript | ENST00000389202.3 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3766792 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00673.hp1 others(32): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(11): Show | a0001c0001t0001g0271 a0002c0002t0001g0165 a0002c0002t0001g0205 others(32): Show |
35 | 302 | 0.1159 | -15 | c.156 others(32): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 2/30 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3782338 | CTAGTGTG others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(36): Show |
a0001a0002a0003others(10): Show | a0001c0050a0002c0002a0003c0003others(12): Show | a0001c0050t0001a0002c0002t0001a0003c0003t0001others(12): Show | a0001c0050t0001g0240 a0002c0002t0001g0157 a0002c0002t0001g0199 others(36): Show |
39 | 302 | 0.1291 | -15 | c.35- others(30): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3785481 | AAGGAAGG others(8): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0167 | 1 | 302 | 0.0033 | -15 | c.35- others(30): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3797155 | ATATTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0007 | a0007c0024 | a0007c0024t0001 | a0007c0024t0001g0009 | 1 | 302 | 0.0033 | -15 | c.34+ others(30): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAL_chr16_30467742_30528185 | 30493245 | CATTTTAT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 318 | 0.0031 | -15 | c.121 others(32): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30506558 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp1 others(31): Show |
a0001a0009 | a0001c0001a0001c0009a0009c0024 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 others(31): Show |
34 | 318 | 0.1069 | -15 | c.236 others(32): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272459 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG02630.hp2 NA19057.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0003 | a0001c0002t0002g0229 a0002c0003t0003g0113 |
2 | 244 | 0.0082 | -15 | c.704 others(30): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31302984 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0037 | 1 | 244 | 0.0041 | -15 | c.170 others(34): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334540 | TTCCTTCC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 244 | 0.0041 | -15 | c.*28 others(26): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1664 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334685 | TTTCTTTC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03017.hp2 HG04199.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0060 a0002c0003t0003g0062 |
2 | 244 | 0.0082 | -15 | c.*29 others(26): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1809 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334736 | CTTTCTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0127 | 1 | 244 | 0.0041 | -15 | c.*30 others(26): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1860 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31335370 | ACAAAACA others(8): Show |
A | downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 244 | 0.0041 | -15 | c.*36 others(26): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2494 | chr16 | TogoVar | |||||||
ITGB3_chr17_47248827_47318743 | 47287911 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0019 | a0001c0019t0005 | a0001c0019t0005g0269 | 1 | 370 | 0.0027 | -15 | c.939 others(30): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124807941 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 a0001c0001t0002g0142 |
2 | 352 | 0.0057 | -15 | c.126 others(34): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124818502 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(55): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 others(55): Show |
58 | 352 | 0.1648 | -15 | c.103 others(32): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 7/14 | chr3 | TogoVar | |||||||
ITIH1_chr3_52772599_52797062 | 52781208 | TTTCTTCT others(8): Show |
T | intron_variant | MODIFIER | HG02132.hp1 HG03831.hp1 NA18946.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0012 | a0001c0001t0001a0001c0005t0001a0001c0012t0001 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 others(2): Show |
6 | 406 | 0.0148 | -15 | c.688 others(30): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566829 | AGAGGAAG others(8): Show |
A | intron_variant | MODIFIER | NA18952.hp2 | a0020 | a0020c0029 | a0020c0029t0002 | a0020c0029t0002g0023 | 1 | 342 | 0.0029 | -15 | c.215 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566832 | GGAAGAGG others(8): Show |
G | intron_variant | MODIFIER | NA19083.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0206 | 1 | 342 | 0.0029 | -15 | c.215 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566838 | GGAAGAGG others(8): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 |
a0004 | a0004c0008 | a0004c0008t0006 | a0004c0008t0006g0186 a0004c0008t0006g0257 |
2 | 342 | 0.0059 | -15 | c.215 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566844 | GGAAGAAG others(8): Show |
G | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0065 | 1 | 342 | 0.0029 | -15 | c.215 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644725 | TCACATAT others(8): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0056 | a0001c0056t0001 | a0001c0056t0001g0010 | 1 | 342 | 0.0029 | -15 | c.136 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644887 | CATATATA others(8): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02080.hp1 others(2): Show |
a0002a0003a0004 | a0002c0003a0003c0005a0004c0016 | a0002c0003t0001a0003c0005t0001a0004c0016t0002 | a0002c0003t0001g0143 a0003c0005t0001g0145 a0003c0005t0001g0146 others(2): Show |
5 | 342 | 0.0146 | -15 | c.136 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644941 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 |
a0002a0007 | a0002c0004a0007c0067 | a0002c0004t0001a0007c0067t0007 | a0002c0004t0001g0191 a0007c0067t0007g0147 |
2 | 342 | 0.0059 | -15 | c.136 others(32): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH6_chrX_54743918_54803255 | 54751756 | GATATGTT others(8): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02055.hp1 others(12): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0002a0002c0002t0011a0002c0011t0002 | a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 others(9): Show |
15 | 296 | 0.0507 | -15 | c.335 others(32): Show |
ITIH6 | ENSG00000102313.9 | transcript | ENST00000218436.7 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157207377 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0155 a0001c0001t0006g0199 a0001c0001t0006g0241 others(1): Show |
4 | 348 | 0.0115 | -15 | c.139 others(32): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITM2B_chr13_48228206_48275357 | 48229672 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 338 | 0.0030 | -15 | c.-36 others(26): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3533 | chr13 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93075326 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02273.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0092others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0010g0001 others(2): Show |
6 | 243 | 0.0247 | -15 | c.120 others(32): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ITPKB_chr1_226626690_226744282 | 226721348 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19090.hp2 | a0023 | a0023c0018 | a0023c0018t0002 | a0023c0018t0002g0052 | 1 | 350 | 0.0029 | -15 | c.193 others(36): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ITPKC_chr19_40712112_40745860 | 40731595 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 388 | 0.0026 | -15 | c.147 others(34): Show |
ITPKC | ENSG00000086544.4 | transcript | ENST00000263370.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4609001 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0009 | 1 | 176 | 0.0057 | -15 | c.164 others(34): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4840029 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(52): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(61): Show | a0001c0001t0002g0045 a0001c0001t0005g0034 a0001c0001t0005g0089 others(73): Show |
76 | 176 | 0.4318 | -15 | c.819 others(34): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 61/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26393461 | CAAGGTCC others(8): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 |
a0001a0003 | a0001c0020a0003c0032 | a0001c0020t0032a0003c0032t0009 | a0001c0020t0032g0062 a0003c0032t0009g0049 |
2 | 142 | 0.0141 | -15 | c.769 others(34): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 54/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516213 | GAAGGAAA others(8): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01361.hp2 |
a0001 | a0001c0008a0001c0062 | a0001c0008t0002a0001c0062t0020 | a0001c0008t0002g0097 a0001c0062t0020g0126 |
2 | 142 | 0.0141 | -15 | c.507 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26516280 | GGGAAGGG others(8): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0128 | 1 | 142 | 0.0070 | -15 | c.507 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26589810 | AAATAAAT others(8): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG01261.hp2 others(5): Show |
a0001 | a0001c0015a0001c0019a0001c0027others(4): Show | a0001c0015t0004a0001c0019t0011a0001c0027t0055others(5): Show | a0001c0015t0004g0006 a0001c0019t0011g0119 a0001c0027t0055g0137 others(5): Show |
8 | 142 | 0.0563 | -15 | c.438 others(34): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31521616 | TTCCCTCC others(8): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01993.hp2 HG03704.hp2 others(1): Show |
a0003a0012 | a0003c0005a0003c0007a0012c0016 | a0003c0005t0003a0003c0005t0013a0003c0007t0003others(1): Show | a0003c0005t0003g0180 a0003c0005t0013g0235 a0003c0007t0003g0195 others(1): Show |
4 | 312 | 0.0128 | -15 | c.-98 others(32): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |