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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IRS1_chr2_226726312_226804820 | 226728076 | G | GGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03688.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0041a0001c0002t0042a0002c0004t0006 | a0001c0002t0041g0077 a0001c0002t0042g0078 a0002c0004t0006g0088 |
3 | 278 | 0.0108 | 22 | c.*81 others(33): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 3235 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 278 | 0.0036 | 22 | c.*21 others(41): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0245 | 1 | 278 | 0.0036 | 22 | c.*21 others(41): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0048 | 1 | 278 | 0.0036 | 22 | c.*21 others(41): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03831.hp2 HG03927.hp2 others(3): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0023a0001c0003t0029others(3): Show | a0001c0001t0001g0143 a0001c0001t0023g0269 a0001c0003t0029g0042 others(3): Show |
6 | 278 | 0.0216 | 22 | c.*21 others(41): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRX1_chr5_3590832_3606403 | 3593836 | A | ACTGTAGT others(15): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 456 | 0.0022 | 22 | c.-22 others(33): Show |
IRX1 | ENSG00000170549.4 | transcript | ENST00000302006.4 | protein_coding | 1995 | chr5 | TogoVar | |||||||
IRX6_chr16_55319203_55335756 | 55325531 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0129 a0001c0001t0002g0119 |
2 | 448 | 0.0045 | 22 | c.45+ others(35): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IRX6_chr16_55319203_55335756 | 55325531 | G | GAAGGAAG others(15): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03130.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 3 | 448 | 0.0067 | 22 | c.45+ others(35): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IRX6_chr16_55319203_55335756 | 55325532 | A | AAGGAAGG others(15): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18994.hp2 NA19067.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0040 a0003c0003t0003g0103 |
3 | 448 | 0.0067 | 22 | c.45+ others(35): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
ISM1_chr20_13216274_13305651 | 13257023 | T | TGAGAGAA others(15): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0061 | 1 | 396 | 0.0025 | 22 | c.139 others(41): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITCH_chr20_34358273_34516773 | 34407402 | G | GATTACAG others(15): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 294 | 0.0034 | 22 | c.71- others(37): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47315768 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0002t0002g0073 |
3 | 110 | 0.0273 | 22 | c.803 others(39): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 8/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47315775 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 a0001c0001t0003g0098 |
2 | 110 | 0.0182 | 22 | c.803 others(39): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 8/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47376964 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 110 | 0.0091 | 22 | c.656 others(39): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47396522 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0067 a0001c0002t0002g0090 |
2 | 110 | 0.0182 | 22 | c.656 others(41): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47409404 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076 | 1 | 110 | 0.0091 | 22 | c.655 others(41): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68302055 | A | AGTGTGTG others(15): Show |
3_prime_UTR_variant | MODIFIER | NA18961.hp1 | a0003 | a0003c0004 | a0003c0004t0051 | a0003c0004t0051g0134 | 1 | 242 | 0.0041 | 22 | c.*98 others(32): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 30/30 | 1003 | chr15 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68400885 | A | AAATATTA others(15): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0012 | a0012c0027 | a0012c0027t0062a0012c0027t0063 | a0012c0027t0062g0237 a0012c0027t0063g0236 |
2 | 242 | 0.0083 | 22 | c.164 others(39): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400901 | T | TATATTAT others(15): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02273.hp2 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0084a0003c0004t0022 | a0001c0003t0084g0220 a0003c0004t0022g0089 |
2 | 242 | 0.0083 | 22 | c.164 others(39): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68433478 | G | GGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00735.hp1 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0012a0001c0001t0022a0001c0001t0065others(24): Show | a0001c0001t0012g0214 a0001c0001t0022g0193 a0001c0001t0065g0198 others(26): Show |
29 | 242 | 0.1198 | 22 | c.-14 others(33): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 1316 | chr15 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52872575 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01515.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0004a0001c0003t0001a0001c0003t0006others(14): Show | a0001c0002t0004g0205 a0001c0003t0001g0131 a0001c0003t0006g0101 others(14): Show |
17 | 322 | 0.0528 | 22 | c.624 others(39): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52962755 | C | CACACACA others(15): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0170 | 1 | 322 | 0.0031 | 22 | c.*10 others(35): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 3547 | chr5 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52962755 | C | CACACATA others(15): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 NA18747.hp1 NA18987.hp2 |
a0001a0003a0010 | a0001c0002a0003c0005a0010c0027 | a0001c0002t0014a0003c0005t0003a0010c0027t0003 | a0001c0002t0014g0179 a0003c0005t0003g0166 a0010c0027t0003g0130 |
3 | 322 | 0.0093 | 22 | c.*10 others(35): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 3547 | chr5 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52962755 | C | CACATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0079 | 1 | 322 | 0.0031 | 22 | c.*10 others(35): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 3547 | chr5 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52962755 | C | CATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG03942.hp1 NA18973.hp1 |
a0001a0003 | a0001c0002a0001c0004a0003c0011 | a0001c0002t0003a0001c0004t0084a0003c0011t0008 | a0001c0002t0003g0113 a0001c0004t0084g0114 a0003c0011t0008g0305 |
3 | 322 | 0.0093 | 22 | c.*10 others(35): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 3547 | chr5 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368146 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 354 | 0.0028 | 22 | c.*42 others(33): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4034 | chr17 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368146 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 354 | 0.0028 | 22 | c.*42 others(33): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4034 | chr17 | TogoVar | |||||||
ITGA2_chr5_52984352_53099779 | 53044274 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18993.hp1 |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0072 a0002c0003t0007g0080 |
2 | 398 | 0.0050 | 22 | c.296 others(37): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA4_chr2_181452386_181543940 | 181526821 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033 a0001c0001t0002g0118 |
2 | 368 | 0.0054 | 22 | c.234 others(39): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGA6_chr2_172422586_172511459 | 172506810 | T | TACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0003a0001c0002t0033a0002c0005t0002others(3): Show | a0001c0001t0003g0104 a0001c0002t0033g0226 a0002c0005t0002g0217 others(4): Show |
7 | 352 | 0.0199 | 22 | c.*25 others(33): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 352 | chr2 | TogoVar | |||||||
ITGA6_chr2_172422586_172511459 | 172506840 | C | CACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 HG02602.hp2 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0016 | a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0016g0156 |
3 | 352 | 0.0085 | 22 | c.*25 others(33): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 382 | chr2 | TogoVar | |||||||
ITGA6_chr2_172422586_172511459 | 172506840 | C | CACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 HG06807.hp2 NA18941.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 a0001c0002t0002g0210 a0001c0002t0002g0298 |
3 | 352 | 0.0085 | 22 | c.*25 others(33): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 382 | chr2 | TogoVar | |||||||
ITGA6_chr2_172422586_172511459 | 172506840 | C | CACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG01975.hp1 HG02040.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0018 | a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0183 others(8): Show |
11 | 352 | 0.0313 | 22 | c.*25 others(33): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 382 | chr2 | TogoVar | |||||||
ITGA6_chr2_172422586_172511459 | 172506840 | C | CACACACA others(15): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0318 | 1 | 352 | 0.0028 | 22 | c.*25 others(33): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 382 | chr2 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15549201 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18940.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0007a0003c0003t0007 | a0001c0001t0007g0008 a0003c0003t0007g0011 |
2 | 220 | 0.0091 | 22 | c.276 others(39): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 26/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15565573 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0007 | 1 | 220 | 0.0046 | 22 | c.263 others(41): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 25/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15694678 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02809.hp1 HG02818.hp1 others(9): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0007a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(7): Show | a0001c0001t0001g0056 a0001c0001t0001g0102 a0001c0001t0001g0152 others(9): Show |
12 | 220 | 0.0546 | 22 | c.344 others(39): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 2/29 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512119 | T | TTCTTTTC others(15): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0116 | 1 | 168 | 0.0060 | 22 | c.898 others(39): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37518093 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02486.hp1 NA18960.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0004a0001c0001t0021a0001c0005t0001others(1): Show | a0001c0001t0004g0026 a0001c0001t0021g0037 a0001c0005t0001g0150 others(1): Show |
4 | 168 | 0.0238 | 22 | c.114 others(39): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37818191 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 168 | 0.0060 | 22 | c.301 others(39): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3711370 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG02083.hp1 HG02698.hp2 others(6): Show |
a0002a0005a0021others(2): Show | a0002c0002a0002c0029a0005c0005others(3): Show | a0002c0002t0001a0002c0029t0001a0005c0005t0001others(3): Show | a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0120 others(6): Show |
9 | 302 | 0.0298 | 22 | c.*34 others(33): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 3257 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3796161 | G | GCGCGCAT others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0022 | a0022c0053 | a0022c0053t0001 | a0022c0053t0001g0036 | 1 | 302 | 0.0033 | 22 | c.34+ others(37): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3796161 | G | GTGCGCAT others(15): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03195.hp2 HG03486.hp1 others(2): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0004a0004c0052others(2): Show | a0001c0001t0001a0004c0004t0001a0004c0052t0001others(2): Show | a0001c0001t0001g0025 a0004c0004t0001g0015 a0004c0052t0001g0053 others(2): Show |
5 | 302 | 0.0166 | 22 | c.34+ others(37): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3796170 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01106.hp1 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0079 a0001c0001t0001g0231 a0001c0001t0001g0238 others(10): Show |
13 | 302 | 0.0431 | 22 | c.34+ others(37): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31270699 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02965.hp1 |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0143 a0001c0007t0004g0148 |
2 | 244 | 0.0082 | 22 | c.428 others(37): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668185 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 | 1 | 308 | 0.0033 | 22 | c.243 others(39): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0216 |
2 | 308 | 0.0065 | 22 | c.243 others(39): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0192 |
2 | 308 | 0.0065 | 22 | c.243 others(39): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAX_chr16_31350176_31387999 | 31382228 | C | CTTTTTTT others(15): Show |
3_prime_UTR_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0103 | 1 | 350 | 0.0029 | 22 | c.*33 others(31): Show |
ITGAX | ENSG00000140678.17 | transcript | ENST00000268296.9 | protein_coding | 30/30 | 357 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGB1_chr10_32895318_32963230 | 32947432 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG01167.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0002a0001c0004t0001 | a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 others(8): Show |
11 | 424 | 0.0259 | 22 | c.-1+ others(39): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1/15 | chr10 | TogoVar |