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 | 68400663 | TATTATAT others(13): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0005 | a0005c0032 | a0005c0032t0001 | a0005c0032t0001g0202 | 1 | 242 | 0.0041 | -20 | c.164 others(37): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52955346 | CAGATAGA others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(86): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0003others(38): Show | a0001c0001t0003g0105 a0001c0001t0003g0110 a0001c0001t0003g0116 others(86): Show |
89 | 322 | 0.2764 | -20 | c.*29 others(31): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 29/29 | 2925 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52962707 | TACACACA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02040.hp2 HG02071.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0031a0001c0004t0005a0001c0004t0031 | a0001c0001t0031g0060 a0001c0004t0005g0161 a0001c0004t0031g0202 |
3 | 322 | 0.0093 | -20 | c.*10 others(33): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 3499 | chr5 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52962741 | CACACACA others(13): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0187 | 1 | 322 | 0.0031 | -20 | c.*10 others(33): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 3533 | chr5 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368138 | ATATATAT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0115 | 1 | 354 | 0.0028 | -20 | c.*42 others(31): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4042 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368140 | ATATATAT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 354 | 0.0028 | -20 | c.*42 others(31): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4040 | chr17 | TogoVar | |||||||
ITGA2_chr5_52984352_53099779 | 53098213 | AGAACCGG others(13): Show |
A | downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03710.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 a0001c0001t0005g0314 |
4 | 398 | 0.0101 | -20 | c.*76 others(31): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 3435 | chr5 | TogoVar | |||||||
ITGA4_chr2_181452386_181543940 | 181509135 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(168): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(160): Show |
171 | 368 | 0.4647 | -20 | c.169 others(37): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15561215 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 NA18940.hp1 others(3): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0003c0003t0006others(2): Show | a0001c0001t0001g0125 a0001c0001t0006g0029 a0001c0001t0006g0031 others(3): Show |
6 | 220 | 0.0273 | -20 | c.263 others(39): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 25/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15644433 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03516.hp1 NA18943.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0188 a0001c0001t0004g0089 a0001c0001t0007g0018 others(4): Show |
7 | 220 | 0.0318 | -20 | c.120 others(37): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15659938 | CTTCTGGC others(13): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0216 | 1 | 220 | 0.0046 | -20 | c.892 others(35): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 9/29 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37511964 | CTTTCTTT others(13): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp1 |
a0002a0004 | a0002c0004a0004c0008 | a0002c0004t0002a0004c0008t0024 | a0002c0004t0002g0105 a0004c0008t0024g0018 |
2 | 168 | 0.0119 | -20 | c.898 others(37): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37530717 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0008a0002c0004t0010 | a0002c0004t0003g0112 a0002c0004t0008g0111 a0002c0004t0010g0109 |
3 | 168 | 0.0179 | -20 | c.137 others(39): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37654190 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0142 | 1 | 168 | 0.0060 | -20 | c.191 others(37): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3797143 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0284 | 1 | 302 | 0.0033 | -20 | c.34+ others(35): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31256985 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03669.hp2 HG03834.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0015 | a0001c0001t0001a0001c0002t0002a0008c0015t0001 | a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0002t0002g0191 others(1): Show |
4 | 244 | 0.0164 | -20 | c.-30 others(31): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2989 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31262337 | ATCCTTCC others(13): Show |
A | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 | 1 | 244 | 0.0041 | -20 | c.134 others(35): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31263802 | AATTTATT others(13): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 244 | 0.0041 | -20 | c.135 others(37): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31270699 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0010 | 1 | 244 | 0.0041 | -20 | c.428 others(35): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272447 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 244 | 0.0041 | -20 | c.704 others(35): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272451 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 244 | 0.0041 | -20 | c.704 others(35): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31302918 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01070.hp2 others(18): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(6): Show | a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0216 others(17): Show |
21 | 244 | 0.0861 | -20 | c.170 others(39): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334519 | TTCCTTTC others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG02145.hp2 others(6): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0002a0003c0004t0005a0003c0004t0006 | a0001c0002t0002g0049 a0003c0004t0005g0022 a0003c0004t0005g0031 others(6): Show |
9 | 244 | 0.0369 | -20 | c.*28 others(31): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1643 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334617 | TTTCTTTC others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01496.hp1 others(11): Show |
a0001a0005 | a0001c0002a0001c0005a0005c0009 | a0001c0002t0002a0001c0005t0004a0005c0009t0002 | a0001c0002t0002g0021 a0001c0002t0002g0038 a0001c0002t0002g0041 others(11): Show |
14 | 244 | 0.0574 | -20 | c.*29 others(31): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1741 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334657 | CTTCCTTC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01071.hp1 HG02280.hp2 HG02523.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0005t0004g0159 |
3 | 244 | 0.0123 | -20 | c.*29 others(31): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1781 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334661 | CTTCCTTC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0185 |
2 | 244 | 0.0082 | -20 | c.*29 others(31): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1785 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334665 | CTTCCTTC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02735.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0003 | a0001c0001t0001g0206 a0004c0006t0003g0004 |
2 | 244 | 0.0082 | -20 | c.*29 others(31): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1789 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334669 | CTTCTTTC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0121 | 1 | 244 | 0.0041 | -20 | c.*29 others(31): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1793 | chr16 | TogoVar | |||||||
ITGAV_chr2_186585056_186685901 | 186648994 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0091 a0001c0001t0002g0078 |
2 | 308 | 0.0065 | -20 | c.135 others(37): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186649016 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01255.hp2 HG01517.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0101 others(13): Show |
17 | 308 | 0.0552 | -20 | c.135 others(37): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32939722 | AAGTGAGT others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(54): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0015a0001c0004t0001others(1): Show | a0001c0001t0001g0158 a0001c0001t0015g0031 a0001c0004t0001g0010 others(50): Show |
57 | 424 | 0.1344 | -20 | c.1-4 others(33): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1/15 | chr10 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44925418 | GGGAGGGA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG01952.hp2 HG03831.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0270 a0001c0002t0003g0268 |
2 | 444 | 0.0045 | -20 | c.-46 others(31): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 4520 | chr21 | TogoVar | |||||||
ITGB3BP_chr1_63435770_63528225 | 63444447 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(292): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(285): Show |
295 | 374 | 0.7888 | -20 | c.*1+ others(35): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101471512 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp2 others(34): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0072 a0001c0001t0001g0092 others(34): Show |
37 | 306 | 0.1209 | -20 | c.316 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101531700 | GTTATTTA others(13): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 306 | 0.0033 | -20 | c.317 others(39): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH1_chr3_52772599_52797062 | 52781206 | TTTTTCTT others(13): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0109 | 1 | 406 | 0.0025 | -20 | c.688 others(35): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7748521 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0275 a0001c0002t0001g0263 others(2): Show |
6 | 380 | 0.0158 | -20 | c.269 others(37): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7628702 | CGTGTGTC others(13): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0021 | 1 | 342 | 0.0029 | -20 | c.652 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644548 | GATATATC others(13): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 342 | 0.0029 | -20 | c.136 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644733 | CTATATCA others(13): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02080.hp1 others(18): Show |
a0000a0001a0002others(5): Show | a0000c0011a0000c0013a0000c0025others(10): Show | a0000c0011t0007a0000c0011t0031a0000c0013t0037others(14): Show | a0000c0011t0007g0084 a0000c0011t0007g0137 a0000c0011t0031g0260 others(18): Show |
21 | 342 | 0.0614 | -20 | c.136 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644789 | TCATATAT others(13): Show |
T | intron_variant | MODIFIER | NA18906.hp1 NA18993.hp2 |
a0004 | a0004c0007 | a0004c0007t0001a0004c0007t0060 | a0004c0007t0001g0318 a0004c0007t0060g0336 |
2 | 342 | 0.0059 | -20 | c.136 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH6_chrX_54743918_54803255 | 54756809 | AAAGCAAG others(13): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0125 | 1 | 296 | 0.0034 | -20 | c.310 others(37): Show |
ITIH6 | ENSG00000102313.9 | transcript | ENST00000218436.7 | protein_coding | 8/12 | chrX | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233932 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG03831.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0129 |
2 | 348 | 0.0058 | -20 | c.768 others(37): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233945 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 |
2 | 348 | 0.0058 | -20 | c.768 others(37): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93075326 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0169 | 1 | 243 | 0.0041 | -20 | c.120 others(37): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4619587 | CCTGCCCT others(13): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0082 | 1 | 176 | 0.0057 | -20 | c.164 others(37): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619746 | CTCTGCCC others(13): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01934.hp1 |
a0001 | a0001c0063a0001c0083 | a0001c0063t0001a0001c0083t0001 | a0001c0063t0001g0108 a0001c0083t0001g0160 |
2 | 176 | 0.0114 | -20 | c.164 others(37): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4701748 | TGTTCACT others(13): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0021 | a0001c0021t0007 | a0001c0021t0007g0011 | 1 | 176 | 0.0057 | -20 | c.453 others(39): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4744898 | CTCCTTCC others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0020a0001c0004t0021a0001c0005t0007others(1): Show | a0001c0001t0020g0123 a0001c0004t0021g0115 a0001c0005t0007g0024 others(1): Show |
4 | 176 | 0.0227 | -20 | c.554 others(39): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 44/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26342491 | CGGCGGTG others(13): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01192.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0002a0001c0008t0002a0001c0012t0039others(2): Show | a0001c0001t0002g0095 a0001c0008t0002g0097 a0001c0012t0039g0079 others(2): Show |
5 | 142 | 0.0352 | -20 | c.785 others(39): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 55/56 | chr12 | TogoVar |