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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INVS_chr9_100094243_100307175 | 100100778 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0015 a0001c0002t0009g0169 |
2 | 182 | 0.0110 | -9 | c.-25 others(26): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
INVS_chr9_100094243_100307175 | 100116094 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 a0001c0001t0004g0062 |
2 | 182 | 0.0110 | -9 | c.107 others(28): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IP6K1_chr3_49719294_49791542 | 49741496 | GAAACTGG others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01884.hp2 others(15): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0010a0001c0001t0016others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0153 a0001c0001t0002g0154 others(14): Show |
18 | 260 | 0.0692 | -9 | c.224 others(26): Show |
IP6K1 | ENSG00000176095.12 | transcript | ENST00000321599.9 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
IP6K1_chr3_49719294_49791542 | 49774407 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0158 a0001c0001t0002g0159 others(3): Show |
7 | 260 | 0.0269 | -9 | c.-12 others(30): Show |
IP6K1 | ENSG00000176095.12 | transcript | ENST00000321599.9 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
IP6K1_chr3_49719294_49791542 | 49790160 | TCTCTCTC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp1 NA18952.hp2 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0105 others(1): Show |
4 | 260 | 0.0154 | -9 | c.-39 others(20): Show |
IP6K1 | ENSG00000176095.12 | transcript | ENST00000321599.9 | protein_coding | 3619 | chr3 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154273724 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0081 a0001c0001t0001g0114 a0001c0001t0001g0177 others(21): Show |
24 | 264 | 0.0909 | -9 | c.-17 others(26): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154288660 | TAAAAAAC others(2): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01257.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0011 a0001c0001t0001g0094 a0001c0001t0005g0154 |
3 | 264 | 0.0114 | -9 | c.-18 others(26): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357646 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0114 others(20): Show |
23 | 264 | 0.0871 | -9 | c.-10 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 844 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357656 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02886.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 others(3): Show |
6 | 264 | 0.0227 | -9 | c.-10 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 854 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357727 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02886.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 others(3): Show |
6 | 264 | 0.0227 | -9 | c.-11 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 925 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357756 | TAATATAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0253 a0001c0001t0004g0239 a0001c0001t0004g0251 others(10): Show |
13 | 264 | 0.0492 | -9 | c.-11 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 954 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357910 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01255.hp2 NA18969.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0159 a0001c0001t0001g0191 a0001c0001t0001g0225 others(3): Show |
6 | 264 | 0.0227 | -9 | c.-13 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1108 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357965 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0013 | a0001c0001t0006g0005 a0001c0002t0013g0075 a0001c0002t0013g0076 |
3 | 264 | 0.0114 | -9 | c.-13 others(20): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1163 | chr6 | TogoVar | |||||||
IPO5_chr13_97948675_98029296 | 98006356 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0088 a0001c0001t0001g0367 a0001c0001t0001g0368 others(14): Show |
17 | 380 | 0.0447 | -9 | c.171 others(24): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IPO9_chr1_201824157_201889291 | 201872606 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02896.hp1 NA18942.hp2 NA18947.hp1 others(12): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0005a0007c0007others(1): Show | a0001c0001t0009a0001c0001t0017a0001c0001t0092others(5): Show | a0001c0001t0009g0007 a0001c0001t0009g0008 a0001c0001t0009g0218 others(9): Show |
15 | 396 | 0.0379 | -9 | c.257 others(26): Show |
IPO9 | ENSG00000198700.10 | transcript | ENST00000361565.9 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45730666 | ACCTGTTC others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02486.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 others(13): Show |
16 | 128 | 0.1250 | -9 | c.725 others(24): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
IQCA1L_chr7_151185873_151210496 | 151197708 | AGCCACCT others(2): Show |
A | intron_variant | MODIFIER | NA18952.hp1 NA18963.hp2 NA19001.hp2 |
a0001a0006a0008 | a0001c0007a0006c0009a0008c0043 | a0001c0007t0001a0006c0009t0001a0008c0043t0001 | a0001c0007t0001g0271 a0006c0009t0001g0256 a0008c0043t0001g0255 |
3 | 448 | 0.0067 | -9 | c.100 others(26): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 7/18 | chr7 | TogoVar | |||||||
IQCA1_chr2_236319151_236512476 | 236357037 | ATTCATAT others(2): Show |
A | intron_variant | MODIFIER | NA18957.hp1 NA18988.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0003g0001 |
3 | 208 | 0.0144 | -9 | c.186 others(28): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121767774 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02040.hp1 NA18952.hp2 NA18990.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0190 a0001c0001t0002g0208 others(3): Show |
6 | 308 | 0.0195 | -9 | c.*25 others(20): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197916272 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02486.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0060 others(8): Show |
11 | 280 | 0.0393 | -9 | c.727 others(26): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 7/11 | chr3 | TogoVar | |||||||
IQCH_chr15_67249786_67506804 | 67340426 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03041.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0007c0009t0001 | a0001c0001t0001g0072 a0001c0001t0001g0102 a0001c0001t0001g0104 others(8): Show |
11 | 276 | 0.0399 | -9 | c.508 others(26): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IQCK_chr16_19713271_19863467 | 19756896 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(3): Show |
6 | 244 | 0.0246 | -9 | c.475 others(26): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IQCK_chr16_19713271_19863467 | 19774398 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018 | a0001c0001t0007g0163 a0001c0001t0007g0165 a0001c0001t0007g0166 others(4): Show |
7 | 244 | 0.0287 | -9 | c.605 others(28): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IQCK_chr16_19713271_19863467 | 19793643 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02074.hp1 HG02135.hp1 HG02155.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0205 others(9): Show |
12 | 244 | 0.0492 | -9 | c.690 others(26): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149388538 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0192 a0003c0005t0001g0196 |
2 | 252 | 0.0079 | -9 | c.139 others(30): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQGAP1_chr15_90383242_90507239 | 90450330 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp1 others(14): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0005others(3): Show | a0001c0001t0001g0177 a0001c0002t0004g0070 a0001c0002t0004g0071 others(14): Show |
17 | 360 | 0.0472 | -9 | c.116 others(26): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76413156 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02451.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0001a0002c0006others(5): Show | a0001c0009t0003a0002c0001t0001a0002c0001t0002others(6): Show | a0001c0009t0003g0108 a0002c0001t0001g0105 a0002c0001t0001g0109 others(9): Show |
12 | 222 | 0.0541 | -9 | c.46+ others(24): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76436506 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG02148.hp2 |
a0002a0005 | a0002c0006a0005c0008 | a0002c0006t0002a0005c0008t0004 | a0002c0006t0002g0098 a0005c0008t0004g0097 |
2 | 222 | 0.0090 | -9 | c.47- others(26): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | chr5 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76496716 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01258.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0002c0013others(2): Show | a0001c0003t0002a0002c0001t0002a0002c0001t0003others(4): Show | a0001c0003t0002g0073 a0002c0001t0002g0218 a0002c0001t0003g0083 others(4): Show |
7 | 222 | 0.0315 | -9 | c.146 others(28): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76529629 | GAATAATA others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01099.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0006others(3): Show | a0001c0002t0002a0001c0003t0004a0002c0006t0002others(3): Show | a0001c0002t0002g0178 a0001c0003t0004g0213 a0002c0006t0002g0085 others(4): Show |
7 | 222 | 0.0315 | -9 | c.147 others(28): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76587364 | TGTCTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00621.hp1 others(62): Show |
a0001a0002a0003others(7): Show | a0001c0002a0002c0001a0003c0004others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(32): Show | a0001c0002t0001g0070 a0001c0002t0001g0078 a0001c0002t0001g0079 others(62): Show |
65 | 222 | 0.2928 | -9 | c.459 others(26): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 5/35 | chr5 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76610105 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18941.hp2 NA19005.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0003a0001c0002t0005a0003c0004t0003 | a0001c0002t0003g0147 a0001c0002t0005g0030 a0003c0004t0003g0139 |
3 | 222 | 0.0135 | -9 | c.135 others(26): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | chr5 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76610106 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00639.hp2 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0002c0001others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(14): Show | a0001c0002t0001g0079 a0001c0002t0001g0190 a0001c0002t0001g0191 others(16): Show |
19 | 222 | 0.0856 | -9 | c.135 others(26): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76667877 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00639.hp2 others(74): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0003a0001c0018others(23): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(47): Show | a0001c0002t0001g0079 a0001c0002t0002g0071 a0001c0002t0002g0111 others(74): Show |
77 | 222 | 0.3469 | -9 | c.268 others(26): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 22/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76689011 | TTCTTAGG others(2): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03453.hp2 |
a0001a0013 | a0001c0002a0013c0019 | a0001c0002t0014a0013c0019t0001 | a0001c0002t0014g0069 a0013c0019t0001g0217 |
2 | 222 | 0.0090 | -9 | c.390 others(28): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10684602 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01168.hp1 HG01169.hp1 others(5): Show |
a0001a0006a0008 | a0001c0002a0006c0010a0006c0044others(1): Show | a0001c0002t0002a0001c0002t0007a0006c0010t0010others(2): Show | a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 others(5): Show |
8 | 278 | 0.0288 | -9 | c.67+ others(24): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25050535 | ACAAACAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(69): Show |
76 | 344 | 0.2209 | -9 | c.-28 others(20): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 2170 | chr12 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25077220 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004a0003c0003t0005others(1): Show | a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0004g0314 others(8): Show |
11 | 344 | 0.0320 | -9 | c.25- others(24): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25113279 | CTGTTGTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01070.hp1 others(53): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(3): Show | a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0268 others(49): Show |
56 | 344 | 0.1628 | -9 | c.*52 others(20): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 4945 | chr12 | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10184723 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00733.hp2 others(43): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0104 a0001c0001t0002g0055 a0001c0001t0002g0063 others(43): Show |
46 | 292 | 0.1575 | -9 | c.277 others(26): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRF2BPL_chr14_77019543_77033708 | 77027304 | AGCGGCGG others(2): Show |
A | disruptive_inframe_deletion | MODERATE | HG02258.hp1 HG02486.hp1 HG03486.hp1 |
a0008 | a0008c0010 | a0008c0010t0019a0008c0010t0066 | a0008c0010t0019g0000 a0008c0010t0066g0000 |
3 | 414 | 0.0073 | -9 | c.480 others(16): Show |
p.Ala others(13): Show |
IRF2BPL | ENSG00000119669.5 | transcript | ENST00000238647.5 | protein_coding | 1/1 | 1404/4166 | 480/2391 | 160/796 | chr14 | TogoVar | |||
IRF6_chr1_209780617_209811142 | 209798908 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(109): Show |
a0001a0005 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0006others(8): Show | a0001c0002t0004g0009 a0001c0002t0004g0013 a0001c0002t0004g0022 others(64): Show |
112 | 428 | 0.2617 | -9 | c.174 others(26): Show |
IRF6 | ENSG00000117595.13 | transcript | ENST00000367021.8 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
IRF7_chr11_607555_620950 | 615468 | CCAGGTGT others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0013 a0001c0003t0002g0042 |
6 | 407 | 0.0147 | -9 | c.-11 others(18): Show |
IRF7 | ENSG00000185507.21 | transcript | ENST00000525445.6 | protein_coding | 2/11 | 105 | chr11 | TogoVar | ||||||
IRS2_chr13_109747695_109791583 | 109767728 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0011a0001c0007t0011a0001c0007t0028 | a0001c0004t0011g0258 a0001c0007t0011g0055 a0001c0007t0011g0057 others(3): Show |
6 | 398 | 0.0151 | -9 | c.401 others(30): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRX6_chr16_55319203_55335756 | 55326952 | CAGGGGGC others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0111 |
3 | 448 | 0.0067 | -9 | c.304 others(24): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
ISCA1_chr9_86259546_86287538 | 86271087 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG02040.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0042 others(16): Show |
28 | 410 | 0.0683 | -9 | c.241 others(24): Show |
ISCA1 | ENSG00000135070.15 | transcript | ENST00000375991.9 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
ISL1_chr5_51378448_51399730 | 51390636 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01167.hp2 HG01168.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0010 a0001c0002t0002g0018 a0001c0002t0002g0021 others(8): Show |
19 | 342 | 0.0556 | -9 | c.766 others(24): Show |
ISL1 | ENSG00000016082.15 | transcript | ENST00000230658.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ISLR2_chr15_74125586_74141802 | 74126895 | TTTGTGTG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 398 | 0.0075 | -9 | c.-38 others(20): Show |
ISLR2 | ENSG00000167178.17 | transcript | ENST00000453268.3 | protein_coding | 3690 | chr15 | TogoVar | |||||||
ISM1_chr20_13216274_13305651 | 13221219 | ACTCCTCC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0006others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0002t0003others(3): Show | a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0023 others(35): Show |
38 | 396 | 0.0960 | -9 | c.-55 others(18): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 54 | chr20 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55448145 | ACACACAC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp1 others(58): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0006c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 others(20): Show |
61 | 380 | 0.1605 | -9 | c.*51 others(20): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 4839 | chr19 | TogoVar |