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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IMPG2_chr3_101217546_101325575 | 101226225 | TTATATAT others(33): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0052 | a0001c0001t0051g0226 a0001c0001t0052g0225 |
2 | 15 | 0.1333 | -40 | c.*70 others(49): Show |
IMPG2 | ENSG00000081148.12 | transcript | ENST00000193391.8 | protein_coding | 19/19 | 704 | chr3 | TogoVar | ||||||
INHA_chr2_219567310_219580711 | 219572021 | GTGAGTGT others(33): Show |
G | upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 432 | 0.0023 | -40 | c.-35 others(49): Show |
INHA | ENSG00000123999.5 | transcript | ENST00000243786.3 | protein_coding | 288 | chr2 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 206071257 | CTTTTTTT others(33): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00642.hp1 others(21): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0002g0287 a0001c0001t0002g0309 a0001c0001t0005g0088 others(21): Show |
24 | 25 | 0.9600 | -40 | c.-12 others(59): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031923 | CACAGCAC others(33): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0014others(1): Show | a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0007g0276 others(10): Show |
13 | 280 | 0.0464 | -40 | c.290 others(59): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031958 | CACAGGAC others(33): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 a0001c0001t0004g0086 |
2 | 191 | 0.0105 | -40 | c.290 others(59): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41032033 | CACAGCAC others(33): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02145.hp1 HG02257.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0002t0004others(1): Show | a0001c0001t0004g0077 a0001c0001t0004g0082 a0001c0001t0004g0084 others(14): Show |
17 | 280 | 0.0607 | -40 | c.290 others(59): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142042512 | GTGTGTGT others(33): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG02615.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0026a0001c0005t0001others(1): Show | a0001c0001t0004g0009 a0001c0001t0004g0041 a0001c0001t0004g0088 others(5): Show |
8 | 57 | 0.1404 | -40 | c.264 others(61): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142245797 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG03209.hp2 NA18522.hp2 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0039 a0001c0002t0002g0001 a0001c0002t0002g0050 |
3 | 90 | 0.0333 | -40 | c.689 others(57): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 11/25 | chr4 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142246114 | ATATGTGT others(33): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0026 | 1 | 84 | 0.0119 | -40 | c.689 others(57): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 11/25 | chr4 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132624435 | ACACCGGC others(33): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 202 | 0.0050 | -40 | c.117 others(59): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5D_chr2_233055342_233212903 | 233186684 | CTTTTTTT others(33): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 32 | 0.0313 | -40 | c.235 others(57): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INPP5E_chr9_136423619_136444845 | 136431308 | CCCCCCAG others(33): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01069.hp2 others(36): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0015others(2): Show | a0001c0001t0001g0001 a0001c0003t0003g0002 a0001c0003t0003g0031 others(6): Show |
39 | 379 | 0.1029 | -40 | c.155 others(57): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
INPP5E_chr9_136423619_136444845 | 136431683 | CCCCCCAG others(33): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01993.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0002a0001c0003t0003a0001c0004t0004others(3): Show | a0001c0002t0002g0003 a0001c0002t0002g0089 a0001c0003t0003g0002 others(5): Show |
10 | 380 | 0.0263 | -40 | c.154 others(57): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
INPP5F_chr10_119721050_119834147 | 119722179 | CTCTCCGC others(33): Show |
C | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 326 | 0.0031 | -40 | c.-40 others(51): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 3870 | chr10 | TogoVar | |||||||
INSC_chr11_15109923_15252208 | 15229959 | TTTATATA others(33): Show |
T | intron_variant | MODIFIER | HG02074.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079 a0001c0001t0002g0044 |
2 | 172 | 0.0116 | -40 | c.117 others(59): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7124564 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02622.hp2 |
a0001 | a0001c0024a0001c0052 | a0001c0024t0023a0001c0052t0157 | a0001c0024t0023g0030 a0001c0052t0157g0287 |
2 | 284 | 0.0070 | -40 | c.325 others(57): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124566 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03471.hp1 NA19030.hp2 |
a0001 | a0001c0005a0001c0006a0001c0060 | a0001c0005t0121a0001c0006t0166a0001c0060t0071 | a0001c0005t0121g0096 a0001c0006t0166g0296 a0001c0060t0071g0044 |
3 | 289 | 0.0104 | -40 | c.325 others(57): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124568 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02109.hp2 NA19043.hp2 |
a0001 | a0001c0027a0001c0055 | a0001c0027t0053a0001c0055t0021 | a0001c0027t0053g0041 a0001c0055t0021g0075 |
2 | 291 | 0.0069 | -40 | c.325 others(57): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124572 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0002a0001c0008a0001c0023others(1): Show | a0001c0002t0170a0001c0008t0027a0001c0023t0062others(1): Show | a0001c0002t0170g0295 a0001c0008t0027g0085 a0001c0008t0027g0086 others(2): Show |
5 | 286 | 0.0175 | -40 | c.325 others(57): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124574 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0023 | a0001c0023t0167 | a0001c0023t0167g0299 | 1 | 289 | 0.0035 | -40 | c.325 others(57): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7229300 | TGATGGAT others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(49): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(43): Show | a0001c0001t0001g0150 a0001c0001t0002g0038 a0001c0001t0007g0138 others(49): Show |
52 | 227 | 0.2291 | -40 | c.652 others(59): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | |||||||
INTS11_chr1_1306600_1329660 | 1315747 | GGCGGGAG others(33): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0123 | 1 | 352 | 0.0028 | -40 | c.430 others(55): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 4/16 | chr1 | TogoVar | |||||||
INTS5_chr11_62641848_62658302 | 62657970 | AAGAAATT others(33): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0028 | 1 | 366 | 0.0027 | -40 | c.-47 others(51): Show |
INTS5 | ENSG00000185085.2 | transcript | ENST00000330574.2 | protein_coding | 4669 | chr11 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28881035 | AGAAGTGA others(33): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0349 | 1 | 356 | 0.0028 | -40 | c.9+8 others(53): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
INVS_chr9_100094243_100307175 | 100154256 | TTGGGCTT others(33): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0088 | 1 | 180 | 0.0056 | -40 | c.273 others(59): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236357664 | ATACATAA others(33): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0022 | a0001c0022t0008 | a0001c0022t0008g0022 | 1 | 206 | 0.0049 | -40 | c.186 others(59): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197904031 | TATACATA others(33): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 278 | 0.0036 | -40 | c.963 others(57): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159116631 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0240 a0001c0001t0002g0038 a0001c0001t0002g0241 others(2): Show |
6 | 250 | 0.0240 | -40 | c.9+4 others(55): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRF7_chr11_607555_620950 | 609782 | GCCGAGGA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01169.hp1 others(20): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0003t0001g0003 a0002c0002t0001g0002 a0002c0002t0001g0011 others(4): Show |
23 | 405 | 0.0568 | -40 | c.*28 others(51): Show |
IRF7 | ENSG00000185507.21 | transcript | ENST00000525445.6 | protein_coding | 2772 | chr11 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68305518 | CGTGGAGT others(33): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0191 | 1 | 240 | 0.0042 | -40 | c.338 others(59): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 28/29 | chr15 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15534670 | TGATAGTG others(33): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0039 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(1): Show |
4 | 218 | 0.0183 | -40 | c.288 others(59): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 27/29 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37570736 | GGATAGAA others(33): Show |
G | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0143 | 1 | 166 | 0.0060 | -40 | c.168 others(61): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31302918 | CTCTTTCT others(33): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 42 | 0.0238 | -40 | c.170 others(59): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334657 | CTTCCTTC others(33): Show |
C | downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 198 | 0.0051 | -40 | c.*29 others(51): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1781 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334661 | CTTCCTTC others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0162 | 1 | 185 | 0.0054 | -40 | c.*29 others(51): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1785 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334669 | CTTCTTTC others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0159 | 1 | 130 | 0.0077 | -40 | c.*29 others(51): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1793 | chr16 | TogoVar | |||||||
ITIH1_chr3_52772599_52797062 | 52781204 | TTTTTTTC others(33): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01099.hp2 others(5): Show |
a0001a0002a0003 | a0001c0006a0002c0002a0002c0008others(1): Show | a0001c0006t0001a0002c0002t0001a0002c0008t0001others(1): Show | a0001c0006t0001g0061 a0002c0002t0001g0003 a0002c0002t0001g0004 others(3): Show |
8 | 252 | 0.0317 | -40 | c.688 others(55): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619592 | CCTCCCCT others(33): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG02970.hp1 |
a0001 | a0001c0007a0001c0060 | a0001c0007t0002a0001c0060t0001 | a0001c0007t0002g0015 a0001c0060t0001g0084 |
2 | 92 | 0.0217 | -40 | c.164 others(57): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619612 | CCTCCCCT others(33): Show |
C | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0062 | 1 | 134 | 0.0075 | -40 | c.164 others(57): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619732 | TCTCCCCT others(33): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0083 | 1 | 86 | 0.0116 | -40 | c.164 others(57): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26608480 | CTGGCCGC others(33): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0024others(1): Show | a0001c0002t0017a0001c0004t0006a0001c0024t0010others(1): Show | a0001c0002t0017g0077 a0001c0004t0006g0065 a0001c0024t0010g0126 others(1): Show |
4 | 140 | 0.0286 | -40 | c.346 others(59): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 26/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26782019 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0040 | 1 | 131 | 0.0076 | -40 | c.163 others(57): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31521615 | TTTCCCTC others(33): Show |
T | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0016 | 1 | 190 | 0.0053 | -40 | c.-98 others(57): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31599585 | TTTTCTTT others(33): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01257.hp1 HG01258.hp1 others(3): Show |
a0002a0003a0013 | a0002c0001a0003c0005a0013c0045 | a0002c0001t0001a0003c0005t0003a0013c0045t0008 | a0002c0001t0001g0191 a0003c0005t0003g0200 a0003c0005t0003g0201 others(3): Show |
6 | 247 | 0.0243 | -40 | c.122 others(61): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33690773 | GTGTATAT others(33): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0015 | a0001c0001t0022g0236 a0001c0002t0015g0081 |
2 | 235 | 0.0085 | -40 | c.-32 others(59): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6161051 | CCTCCACT others(33): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 232 | 0.0043 | -40 | c.-14 others(61): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147761969 | TAAAAATA others(33): Show |
T | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0159 | 1 | 248 | 0.0040 | -40 | c.-14 others(61): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132126548 | CAAAGTAC others(33): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(30): Show |
a0002a0004a0006others(1): Show | a0002c0005a0002c0016a0004c0007others(13): Show | a0002c0005t0005a0002c0005t0018a0002c0016t0013others(20): Show | a0002c0005t0005g0131 a0002c0005t0018g0139 a0002c0016t0013g0144 others(30): Show |
33 | 156 | 0.2115 | -40 | c.634 others(57): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132149618 | GCCCCCGC others(33): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0042 | a0001c0042t0022 | a0001c0042t0022g0127 | 1 | 153 | 0.0065 | -40 | c.194 others(57): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132180712 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0056 | 1 | 145 | 0.0069 | -40 | c.*11 others(61): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |