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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ISOC2_chr19_55447985_55466642 | 55456056 | T | TGAGGGAA | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 others(5): Show |
10 | 380 | 0.0263 | 7 | c.139 others(22): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55464934 | T | TCGGGAGG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(251): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(129): Show |
254 | 380 | 0.6684 | 7 | c.-34 others(18): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 3293 | chr19 | TogoVar | |||||||
IST1_chr16_71890531_71936199 | 71892178 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(50): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(43): Show |
53 | 352 | 0.1506 | 7 | c.-34 others(18): Show |
IST1 | ENSG00000182149.21 | transcript | ENST00000378799.11 | protein_coding | 3352 | chr16 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442159 | A | ACACACAC | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01517.hp2 NA18993.hp2 others(2): Show |
a0001a0007 | a0001c0002a0001c0003a0007c0013 | a0001c0002t0001a0001c0003t0001a0007c0013t0001 | a0001c0002t0001g0003 a0001c0003t0001g0002 a0001c0003t0001g0025 others(1): Show |
5 | 308 | 0.0162 | 7 | c.-40 others(18): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4027 | chr19 | TogoVar | |||||||
ITCH_chr20_34358273_34516773 | 34441591 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(193): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 others(193): Show |
196 | 294 | 0.6667 | 7 | c.870 others(22): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47409404 | A | ATATTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp1 HG01255.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0108 others(1): Show |
4 | 110 | 0.0364 | 7 | c.655 others(26): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47427656 | A | AGTAACAT | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01109.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0066 a0001c0001t0001g0100 a0001c0001t0001g0101 others(39): Show |
42 | 110 | 0.3818 | 7 | c.655 others(24): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52808676 | C | CTTTCTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00639.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0001g0072 a0001c0001t0004g0076 a0001c0001t0006g0088 others(48): Show |
51 | 322 | 0.1584 | 7 | c.61+ others(24): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52866000 | T | TTTTTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(56): Show | a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0221 others(83): Show |
86 | 322 | 0.2671 | 7 | c.624 others(22): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52889897 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(142): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(79): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0067 others(140): Show |
145 | 322 | 0.4503 | 7 | c.924 others(24): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA4_chr2_181452386_181543940 | 181526821 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00621.hp1 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0012others(1): Show | a0001c0001t0007a0001c0001t0036a0002c0003t0004others(5): Show | a0001c0001t0007g0257 a0001c0001t0036g0306 a0002c0003t0004g0004 others(16): Show |
19 | 368 | 0.0516 | 7 | c.234 others(24): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA6_chr2_172422586_172511459 | 172457295 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG02451.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(2): Show | a0001c0001t0001g0014 a0001c0001t0013g0035 a0001c0002t0002g0036 others(3): Show |
6 | 352 | 0.0171 | 7 | c.183 others(24): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15720862 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG01099.hp2 others(22): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0127 others(22): Show |
25 | 220 | 0.1136 | 7 | c.-10 others(18): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 941 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15720868 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG03492.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0018a0003c0003t0007a0004c0004t0009others(2): Show | a0001c0001t0018g0014 a0003c0003t0007g0011 a0003c0003t0007g0030 others(3): Show |
6 | 220 | 0.0273 | 7 | c.-10 others(18): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 947 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37606932 | T | TGTGTGAG | intron_variant | MODIFIER | HG00639.hp2 HG02572.hp1 HG02647.hp2 others(3): Show |
a0002 | a0002c0002a0002c0004a0002c0011 | a0002c0002t0005a0002c0002t0010a0002c0002t0026others(2): Show | a0002c0002t0005g0050 a0002c0002t0005g0158 a0002c0002t0010g0087 others(3): Show |
6 | 168 | 0.0357 | 7 | c.169 others(28): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37758329 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(24): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0125 others(24): Show |
27 | 168 | 0.1607 | 7 | c.254 others(26): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3711370 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02055.hp2 others(15): Show |
a0004a0008a0013others(3): Show | a0004c0004a0004c0016a0004c0056others(5): Show | a0004c0004t0001a0004c0016t0001a0004c0056t0001others(5): Show | a0004c0004t0001g0014 a0004c0004t0001g0015 a0004c0004t0001g0022 others(15): Show |
18 | 302 | 0.0596 | 7 | c.*34 others(18): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 3257 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3755997 | A | ATGCTTGG | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG04199.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0256 a0002c0002t0001g0257 a0003c0003t0001g0262 |
3 | 302 | 0.0099 | 7 | c.117 others(24): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 10/30 | chr17 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31272464 | T | TATATATA | intron_variant | MODIFIER | HG02040.hp2 NA18963.hp1 NA18966.hp1 |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0002a0005c0009t0002 | a0001c0002t0002g0044 a0001c0002t0002g0104 a0005c0009t0002g0093 |
3 | 244 | 0.0123 | 7 | c.704 others(22): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31302396 | T | TTTCTTTC | intron_variant | MODIFIER | HG01256.hp2 HG02615.hp2 HG02896.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0019 a0003c0004t0005g0047 a0003c0004t0005g0097 others(3): Show |
6 | 244 | 0.0246 | 7 | c.170 others(26): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334444 | T | TCTCTCTC | downstream_gene_variant | MODIFIER | HG02896.hp1 HG03195.hp2 NA20300.hp2 |
a0001a0009a0010 | a0001c0007a0009c0010a0010c0011 | a0001c0007t0009a0009c0010t0004a0010c0011t0004 | a0001c0007t0009g0142 a0009c0010t0004g0018 a0010c0011t0004g0017 |
3 | 244 | 0.0123 | 7 | c.*27 others(18): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1568 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334444 | T | TCTCTTTC | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0143 a0001c0007t0004g0144 a0001c0007t0004g0145 others(2): Show |
5 | 244 | 0.0205 | 7 | c.*27 others(18): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1568 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334736 | C | CCTTCTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG02257.hp2 HG02615.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0002t0002a0003c0004t0005 | a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0002t0002g0082 others(5): Show |
8 | 244 | 0.0328 | 7 | c.*30 others(18): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1860 | chr16 | TogoVar | |||||||
ITGB1BP2_chrX_71296750_71310371 | 71299272 | T | TTGGGAAA | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01975.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 291 | 0.0103 | 7 | c.-25 others(18): Show |
ITGB1BP2 | ENSG00000147166.11 | transcript | ENST00000373829.8 | protein_coding | 2477 | chrX | TogoVar | |||||||
ITGB1_chr10_32895318_32963230 | 32961751 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG01167.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0178 a0001c0001t0003g0059 a0001c0001t0003g0066 others(23): Show |
28 | 424 | 0.0660 | 7 | c.-36 others(18): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 3522 | chr10 | TogoVar | |||||||
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 a0001c0001t0004g0299 a0001c0001t0004g0345 others(5): Show |
8 | 444 | 0.0180 | 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 |
a0001a0007 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(1): Show | a0001c0001t0002g0218 a0001c0003t0002g0006 a0001c0003t0002g0007 others(13): Show |
19 | 444 | 0.0428 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0218 others(22): Show |
26 | 374 | 0.0695 | 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 |
a0001a0002a0004others(1): Show | a0001c0002a0001c0013a0002c0003others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0013t0017others(4): Show | a0001c0002t0003g0069 a0001c0002t0003g0262 a0001c0002t0003g0280 others(12): Show |
15 | 352 | 0.0426 | 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 | a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0141 others(48): Show |
52 | 306 | 0.1699 | 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 | a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0187 others(5): Show |
8 | 306 | 0.0261 | 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 a0001c0005t0001g0039 others(4): Show |
7 | 306 | 0.0229 | 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 | a0001c0001a0001c0002a0001c0023others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(68): Show |
72 | 380 | 0.1895 | 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 | a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0085 others(3): Show |
6 | 380 | 0.0158 | 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 | a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0114 others(4): Show |
7 | 380 | 0.0184 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0020 others(11): Show |
15 | 348 | 0.0431 | 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 a0001c0040t0001g0049 |
3 | 176 | 0.0171 | 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 | a0001c0013t0022g0129 a0001c0040t0005g0019 |
2 | 142 | 0.0141 | 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 | a0001c0012t0006g0080 a0001c0012t0039g0079 a0001c0013t0022g0120 |
3 | 142 | 0.0211 | 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 | a0001c0002t0001g0071 a0001c0027t0055g0137 a0001c0027t0056g0138 |
3 | 142 | 0.0211 | 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 | a0001c0002t0040g0047 a0001c0006t0001g0060 |
2 | 142 | 0.0141 | 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 | a0001c0001t0007g0046 a0001c0049t0028g0103 a0003c0032t0009g0049 others(1): Show |
4 | 142 | 0.0282 | 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(4): Show |
a0001a0002 | a0001c0001a0001c0012a0001c0018others(3): Show | a0001c0001t0001a0001c0012t0005a0001c0018t0047others(4): Show | a0001c0001t0001g0036 a0001c0012t0005g0023 a0001c0018t0047g0112 others(4): Show |
7 | 142 | 0.0493 | 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 | a0001c0021t0002g0043 a0001c0028t0001g0010 a0001c0028t0010g0125 others(1): Show |
4 | 142 | 0.0282 | 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 | a0001c0033a0001c0095a0002c0006others(1): Show | a0001c0033t0001a0001c0095t0001a0002c0006t0002others(1): Show | a0001c0033t0001g0061 a0001c0033t0001g0100 a0001c0095t0001g0192 others(5): Show |
8 | 342 | 0.0234 | 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 | a0001c0002t0002g0093 a0001c0002t0002g0111 a0001c0002t0002g0122 others(16): Show |
19 | 312 | 0.0609 | 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 | a0001c0001t0019a0001c0002t0015a0001c0028t0059others(3): Show | a0001c0001t0019g0080 a0001c0002t0015g0081 a0001c0028t0059g0152 others(4): Show |
7 | 242 | 0.0289 | 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 | a0001c0001t0003a0001c0002t0043a0001c0003t0004others(2): Show | a0001c0001t0003g0072 a0001c0001t0003g0160 a0001c0002t0043g0060 others(3): Show |
6 | 242 | 0.0248 | 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 a0001c0001t0003g0049 a0001c0001t0003g0098 others(7): Show |
10 | 242 | 0.0413 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0269 a0001c0001t0002g0135 others(2): Show |
5 | 414 | 0.0121 | 7 | c.-10 others(18): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1021 | chr6 | TogoVar |