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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ISX_chr22_35061158_35092387 | 35077609 | ACATCATC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00642.hp1 others(105): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0011others(5): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0009others(6): Show | a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0136 others(38): Show |
108 | 410 | 0.2634 | -9 | c.230 others(26): Show |
ISX | ENSG00000175329.13 | transcript | ENST00000404699.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ISY1_chr3_129122415_129166063 | 129149611 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01346.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0113 others(4): Show |
7 | 366 | 0.0191 | -9 | c.188 others(26): Show |
ISY1 | ENSG00000240682.10 | transcript | ENST00000393295.8 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
ISY1_chr3_129122415_129166063 | 129164210 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0136 a0001c0001t0001g0156 others(57): Show |
62 | 366 | 0.1694 | -9 | c.-32 others(20): Show |
ISY1 | ENSG00000240682.10 | transcript | ENST00000393295.8 | protein_coding | 3148 | chr3 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68317522 | ACCCCAGA others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02451.hp2 HG02647.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0005a0001c0008a0002c0010others(2): Show | a0001c0005t0109a0001c0008t0035a0001c0008t0107others(3): Show | a0001c0005t0109g0127 a0001c0008t0035g0229 a0001c0008t0107g0239 others(3): Show |
6 | 242 | 0.0248 | -9 | c.261 others(26): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 20/29 | chr15 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44377654 | TGAGCCCC others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(147): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0001t0001g0080 a0002c0002t0001g0002 a0002c0002t0001g0003 others(72): Show |
150 | 354 | 0.4237 | -9 | c.218 others(24): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 21/29 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44392427 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01978.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(6): Show |
10 | 354 | 0.0283 | -9 | c.-29 others(20): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 2779 | chr17 | TogoVar | |||||||
ITGA2_chr5_52984352_53099779 | 53004894 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0051a0001c0002t0009others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 others(8): Show |
12 | 398 | 0.0302 | -9 | c.64+ others(26): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA4_chr2_181452386_181543940 | 181526821 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(59): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0009others(8): Show | a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0002t0003g0009 others(55): Show |
62 | 368 | 0.1685 | -9 | c.234 others(26): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA6_chr2_172422586_172511459 | 172423887 | GCCACCAC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0015a0001c0002t0016a0001c0003t0005others(2): Show | a0001c0001t0015g0160 a0001c0001t0015g0174 a0001c0002t0016g0156 others(31): Show |
35 | 352 | 0.0994 | -9 | c.-39 others(20): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 3698 | chr2 | TogoVar | |||||||
ITGA6_chr2_172422586_172511459 | 172441558 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02976.hp2 others(4): Show |
a0001a0003a0004 | a0001c0003a0003c0006a0004c0008 | a0001c0003t0002a0003c0006t0002a0004c0008t0002 | a0001c0003t0002g0177 a0003c0006t0002g0089 a0004c0008t0002g0011 others(4): Show |
7 | 352 | 0.0199 | -9 | c.182 others(28): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 1/25 | chr2 | TogoVar | |||||||
ITGA6_chr2_172422586_172511459 | 172441559 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG03516.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0005t0003others(1): Show | a0001c0001t0001g0301 a0001c0002t0002g0231 a0001c0002t0002g0324 others(3): Show |
6 | 352 | 0.0171 | -9 | c.182 others(28): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15546675 | AGAAAGGA others(2): Show |
A | 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 | -9 | c.288 others(28): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 27/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15549201 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG01891.hp1 others(15): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0008a0001c0011others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0036others(9): Show | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0170 others(15): Show |
18 | 220 | 0.0818 | -9 | c.276 others(26): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 26/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15556016 | CTCTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp1 others(18): Show |
a0001a0004 | a0001c0001a0001c0008a0001c0014others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(5): Show | a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0066 others(18): Show |
21 | 220 | 0.0955 | -9 | c.276 others(28): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 26/29 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37511962 | CTCTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02647.hp1 others(1): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0021others(1): Show | a0001c0001t0001a0002c0002t0007a0006c0021t0003others(1): Show | a0001c0001t0001g0100 a0002c0002t0007g0039 a0006c0021t0003g0167 others(1): Show |
4 | 168 | 0.0238 | -9 | c.898 others(26): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512200 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03579.hp1 |
a0001a0003a0011 | a0001c0003a0003c0008a0011c0027 | a0001c0003t0008a0003c0008t0024a0011c0027t0011 | a0001c0003t0008g0156 a0003c0008t0024g0018 a0011c0027t0011g0006 |
3 | 168 | 0.0179 | -9 | c.898 others(26): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37697307 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01074.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0003others(18): Show | a0001c0001t0001g0010 a0001c0001t0006g0119 a0001c0003t0003g0149 others(25): Show |
28 | 168 | 0.1667 | -9 | c.206 others(30): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3766792 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(82): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0050a0002c0002others(15): Show | a0001c0001t0001a0001c0050t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 others(82): Show |
85 | 302 | 0.2815 | -9 | c.156 others(26): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 2/30 | chr17 | TogoVar | |||||||
ITGAL_chr16_30467742_30528185 | 30479648 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0009a0001c0028others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0009t0001others(9): Show | a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0061 others(130): Show |
133 | 318 | 0.4182 | -9 | c.576 others(24): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31257003 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02280.hp1 HG02615.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0002a0001c0007t0004a0002c0003t0003 | a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 others(10): Show |
13 | 244 | 0.0533 | -9 | c.-30 others(20): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2971 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334441 | CTCTTTTC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0007a0001c0008 | a0001c0007t0004a0001c0008t0004 | a0001c0007t0004g0023 a0001c0007t0004g0024 a0001c0007t0004g0109 others(2): Show |
5 | 244 | 0.0205 | -9 | c.*27 others(20): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1565 | chr16 | TogoVar | |||||||
ITGAV_chr2_186585056_186685901 | 186668205 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG03710.hp1 NA18944.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 a0001c0001t0003g0169 a0001c0001t0003g0248 others(4): Show |
7 | 308 | 0.0227 | -9 | c.243 others(26): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | chr2 | TogoVar | |||||||
ITGAV_chr2_186585056_186685901 | 186668207 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02965.hp1 NA20805.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0003a0004c0007t0003 | a0001c0001t0003g0243 a0001c0001t0003g0291 a0004c0007t0003g0249 |
3 | 308 | 0.0097 | -9 | c.243 others(26): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | chr2 | TogoVar | |||||||
ITGB4_chr17_75716459_75762818 | 75748197 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02622.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0002a0001c0003t0002a0002c0001t0001others(5): Show | a0001c0002t0002g0007 a0001c0003t0002g0336 a0002c0001t0001g0074 others(11): Show |
14 | 382 | 0.0367 | -9 | c.311 others(26): Show |
ITGB4 | ENSG00000132470.14 | transcript | ENST00000200181.8 | protein_coding | 26/39 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124763647 | TTTGTTGA others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00733.hp2 HG00741.hp2 HG01069.hp1 others(27): Show |
a0003a0005a0008others(2): Show | a0003c0004a0003c0028a0005c0010others(3): Show | a0003c0004t0004a0003c0004t0010a0003c0028t0004others(4): Show | a0003c0004t0004g0017 a0003c0004t0004g0022 a0003c0004t0004g0024 others(27): Show |
30 | 352 | 0.0852 | -9 | c.236 others(18): Show |
p.Phe others(13): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 15/15 | 2740/4440 | 2367/2400 | 789/799 | chr3 | TogoVar | |||
ITGB5_chr3_124756948_124892365 | 124807941 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG02055.hp2 HG03491.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0014a0001c0002t0005a0001c0002t0019others(2): Show | a0001c0001t0014g0310 a0001c0002t0005g0343 a0001c0002t0019g0036 others(3): Show |
6 | 352 | 0.0171 | -9 | c.126 others(28): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
ITGB6_chr2_160094671_160205272 | 160099021 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG02738.hp2 others(3): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0010c0010t0001 | a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 others(3): Show |
6 | 358 | 0.0168 | -9 | c.*27 others(20): Show |
ITGB6 | ENSG00000115221.12 | transcript | ENST00000283249.7 | protein_coding | 649 | chr2 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101582939 | ATAAATTG others(2): Show |
A | intron_variant | MODIFIER | HG02132.hp1 NA18946.hp2 NA19056.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0273 a0001c0006t0001g0224 a0001c0006t0001g0232 |
3 | 306 | 0.0098 | -9 | c.728 others(24): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101709371 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp2 others(73): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(8): Show | a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0003t0001g0002 others(71): Show |
76 | 306 | 0.2484 | -9 | c.127 others(28): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH1_chr3_52772599_52797062 | 52781208 | TTTCTTCT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01496.hp2 others(10): Show |
a0001a0012 | a0001c0001a0001c0005a0012c0026 | a0001c0001t0001a0001c0005t0001a0012c0026t0001 | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0054 others(5): Show |
13 | 406 | 0.0320 | -9 | c.688 others(24): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737669 | ATTCTATA others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01070.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0275 a0001c0002t0001g0260 others(9): Show |
13 | 380 | 0.0342 | -9 | c.195 others(26): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737879 | CTATATAT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 NA18612.hp1 NA18973.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0190 a0002c0003t0001g0192 a0002c0003t0001g0236 others(1): Show |
4 | 380 | 0.0105 | -9 | c.195 others(26): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566844 | GGAAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp1 HG01099.hp2 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0006a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0006t0001others(4): Show | a0001c0001t0001g0205 a0001c0001t0001g0224 a0001c0001t0010g0046 others(6): Show |
9 | 342 | 0.0263 | -9 | c.215 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7567319 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG03098.hp2 NA18942.hp2 NA18953.hp1 others(3): Show |
a0001a0002a0003 | a0001c0006a0002c0003a0002c0004others(1): Show | a0001c0006t0001a0002c0003t0001a0002c0004t0001others(1): Show | a0001c0006t0001g0175 a0002c0003t0001g0301 a0002c0003t0001g0305 others(3): Show |
6 | 342 | 0.0175 | -9 | c.215 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644371 | TATATATC others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01070.hp1 others(54): Show |
a0001a0002a0003others(11): Show | a0001c0006a0002c0003a0003c0005others(12): Show | a0001c0006t0001a0001c0006t0017a0002c0003t0001others(21): Show | a0001c0006t0001g0104 a0001c0006t0001g0106 a0001c0006t0001g0107 others(54): Show |
57 | 342 | 0.1667 | -9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644566 | GATATATA others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG03098.hp1 HG03130.hp1 others(2): Show |
a0002a0004a0008others(2): Show | a0002c0003a0004c0007a0008c0043others(2): Show | a0002c0003t0001a0004c0007t0058a0008c0043t0033others(2): Show | a0002c0003t0001g0141 a0004c0007t0058g0140 a0008c0043t0033g0274 others(2): Show |
5 | 342 | 0.0146 | -9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644597 | TACATATC others(2): Show |
T | intron_variant | MODIFIER | HG02080.hp1 HG02486.hp2 HG02630.hp2 |
a0003a0008a0027 | a0003c0005a0008c0058a0027c0054 | a0003c0005t0001a0008c0058t0039a0027c0054t0062 | a0003c0005t0001g0145 a0008c0058t0039g0255 a0027c0054t0062g0015 |
3 | 342 | 0.0088 | -9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644947 | TATATCAC others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02451.hp2 others(17): Show |
a0001a0002a0003others(10): Show | a0001c0082a0002c0003a0002c0015others(15): Show | a0001c0082t0001a0002c0003t0001a0002c0015t0001others(15): Show | a0001c0082t0001g0288 a0002c0003t0001g0141 a0002c0015t0001g0284 others(17): Show |
20 | 342 | 0.0585 | -9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7657041 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(47): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0002c0003others(14): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0048others(25): Show | a0001c0001t0001g0313 a0001c0006t0001g0294 a0001c0006t0001g0296 others(47): Show |
50 | 342 | 0.1462 | -9 | c.91- others(24): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
ITPA_chr20_3204498_3228860 | 3219196 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02970.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0120 a0001c0003t0001g0014 a0001c0003t0001g0084 others(1): Show |
6 | 414 | 0.0145 | -9 | c.411 others(24): Show |
ITPA | ENSG00000125877.13 | transcript | ENST00000380113.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93026774 | AGAGAACG others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0010a0001c0001t0029others(5): Show | a0001c0001t0004g0010 a0001c0001t0010g0001 a0001c0001t0010g0012 others(7): Show |
11 | 243 | 0.0453 | -9 | c.121 others(26): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ITPKB_chr1_226626690_226744282 | 226737174 | ACTGCCGC others(2): Show |
A | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(107): Show |
a0001a0014a0015others(2): Show | a0001c0001a0001c0008a0001c0028others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0038 a0001c0001t0001g0240 a0001c0001t0001g0244 others(105): Show |
110 | 350 | 0.3143 | -9 | c.276 others(16): Show |
p.Ser others(11): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/8 | 731/6269 | 276/2841 | 92/946 | chr1 | TogoVar | |||
ITPR1_chr3_4488348_4852506 | 4630561 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0102a0001c0104 | a0001c0102t0001a0001c0104t0019 | a0001c0102t0001g0168 a0001c0104t0019g0121 |
2 | 176 | 0.0114 | -9 | c.279 others(26): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4640400 | GATTAGAT others(2): Show |
G | intron_variant | MODIFIER | HG03225.hp2 HG06807.hp1 |
a0001 | a0001c0025a0001c0035 | a0001c0025t0007a0001c0035t0011 | a0001c0025t0007g0112 a0001c0035t0011g0001 |
2 | 176 | 0.0114 | -9 | c.366 others(24): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 6/61 | chr3 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4711210 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0026a0001c0042a0001c0050others(3): Show | a0001c0026t0009a0001c0026t0018a0001c0042t0010others(4): Show | a0001c0026t0009g0175 a0001c0026t0018g0117 a0001c0042t0010g0014 others(4): Show |
7 | 176 | 0.0398 | -9 | c.499 others(26): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26415523 | TAAGAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0002a0001c0001t0010a0001c0002t0001others(24): Show | a0001c0001t0002g0095 a0001c0001t0010g0127 a0001c0002t0001g0068 others(25): Show |
28 | 142 | 0.1972 | -9 | c.711 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 50/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26589797 | ATAAATAA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG03492.hp2 |
a0001 | a0001c0004a0001c0013a0001c0025 | a0001c0004t0003a0001c0013t0022a0001c0025t0051 | a0001c0004t0003g0093 a0001c0013t0022g0120 a0001c0025t0051g0133 |
3 | 142 | 0.0211 | -9 | c.438 others(28): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31521904 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG02970.hp1 others(3): Show |
a0001a0007a0011others(1): Show | a0001c0014a0007c0015a0011c0018others(1): Show | a0001c0014t0001a0007c0015t0009a0011c0018t0002others(1): Show | a0001c0014t0001g0090 a0007c0015t0009g0086 a0011c0018t0002g0085 others(3): Show |
6 | 312 | 0.0192 | -9 | c.-98 others(26): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31618643 | ATGTAGAA others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01169.hp1 others(13): Show |
a0003a0004a0005others(2): Show | a0003c0012a0004c0017a0005c0009others(5): Show | a0003c0012t0011a0004c0017t0011a0005c0009t0004others(7): Show | a0003c0012t0011g0294 a0004c0017t0011g0305 a0004c0017t0011g0306 others(12): Show |
16 | 312 | 0.0513 | -9 | c.122 others(30): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | chr7 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33687398 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00621.hp1 others(67): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 others(67): Show |
70 | 242 | 0.2893 | -9 | c.-32 others(28): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |