regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0007g0275a0001c0001t0007g0276a0001c0001t0007g0277others(10): Show | 13 | 282 | 0.0461 | -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 | a0001c0001t0004g0077a0001c0001t0004g0085 | 2 | 282 | 0.0071 | -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 | a0001c0001t0004g0076a0001c0001t0004g0081a0001c0001t0004g0083others(14): Show | 17 | 282 | 0.0603 | -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 | a0001c0001t0004g0010a0001c0001t0004g0041a0001c0001t0004g0088others(5): Show | 8 | 90 | 0.0889 | -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 | a0001c0002t0001g0039a0001c0002t0002g0001a0001c0002t0002g0050 | 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 | 90 | 0.0111 | -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 | 204 | 0.0049 | -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 | 310 | 0.0032 | -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 |
a0001a0004 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0016others(2): Show | a0001c0001t0001g0086a0001c0003t0003g0001a0001c0003t0003g0041others(7): Show | 39 | 382 | 0.1021 | -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 | a0001c0002t0002g0143a0001c0002t0002g0154a0001c0003t0003g0171others(5): Show | 10 | 382 | 0.0262 | -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 | a0001c0001t0001g0019 | 1 | 328 | 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 | a0001c0001t0001g0162a0001c0001t0002g0198 | 2 | 270 | 0.0074 | -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 | a0001c0024a0001c0053 | a0001c0024t0023a0001c0053t0157 | a0001c0024t0023g0032a0001c0053t0157g0287 | 2 | 300 | 0.0067 | -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 | a0001c0005a0001c0006a0001c0061 | a0001c0005t0121a0001c0006t0166a0001c0061t0071 | a0001c0005t0121g0097a0001c0006t0166g0296a0001c0061t0071g0046 | 3 | 300 | 0.0100 | -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 | a0001c0027a0001c0056 | a0001c0027t0053a0001c0056t0021 | a0001c0027t0053g0044a0001c0056t0021g0077 | 2 | 300 | 0.0067 | -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 | a0001c0002t0170g0295a0001c0008t0027g0085a0001c0008t0027g0086others(2): Show | 5 | 300 | 0.0167 | -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 | 300 | 0.0033 | -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(50): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(44): Show | a0001c0001t0001g0167a0001c0001t0002g0040a0001c0001t0007g0155others(50): Show | 53 | 300 | 0.1767 | -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 | a0001c0003t0001g0129 | 1 | 354 | 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 | 368 | 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 | 358 | 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 | a0002c0003t0006g0091 | 1 | 182 | 0.0055 | -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 | a0001c0022t0008g0021 | 1 | 208 | 0.0048 | -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 | 280 | 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 | a0001c0001t0001g0232a0001c0001t0002g0039a0001c0001t0002g0233others(2): Show | 6 | 252 | 0.0238 | -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 | a0001c0003t0001g0003a0002c0002t0001g0005a0002c0002t0001g0014others(4): Show | 23 | 407 | 0.0565 | -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 | a0002c0008t0008 | a0002c0008t0008g0192 | 1 | 242 | 0.0041 | -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 | a0001c0001t0003a0001c0001t0041 | a0001c0001t0003g0121a0001c0001t0003g0122a0001c0001t0003g0123others(1): Show | 4 | 220 | 0.0182 | -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 | 168 | 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 | a0001c0002t0002g0073 | 1 | 244 | 0.0041 | -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 | a0001c0001t0001g0028 | 1 | 244 | 0.0041 | -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 | a0001c0005t0004g0154 | 1 | 244 | 0.0041 | -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 | a0001c0005t0004g0151 | 1 | 244 | 0.0041 | -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 | a0001c0006t0001g0088a0002c0002t0001g0041a0002c0002t0001g0042others(3): Show | 8 | 406 | 0.0197 | -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 | a0001c0007t0002g0029a0001c0060t0001g0077 | 2 | 176 | 0.0114 | -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 | 176 | 0.0057 | -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 | a0001c0007t0001g0076 | 1 | 176 | 0.0057 | -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 | a0001c0002t0017g0070a0001c0004t0006g0058a0001c0024t0010g0124others(1): Show | 4 | 142 | 0.0282 | -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 | a0001c0011t0002g0035 | 1 | 142 | 0.0070 | -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 | a0001c0003t0002g0025 | 1 | 312 | 0.0032 | -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 | a0002c0001t0001g0175a0003c0005t0003g0192a0003c0005t0003g0196others(3): Show | 6 | 312 | 0.0192 | -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 | a0001c0001t0022g0236a0001c0002t0015g0081 | 2 | 242 | 0.0083 | -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 | 233 | 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 | 250 | 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(31): Show |
a0002a0004a0006others(1): Show | a0002c0005a0002c0016a0002c0047others(14): Show | a0002c0005t0005a0002c0005t0019a0002c0016t0014others(22): Show | a0002c0005t0005g0130a0002c0005t0019g0138a0002c0016t0014g0143others(31): Show | 34 | 158 | 0.2152 | -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 | a0001c0042t0023 | a0001c0042t0023g0126 | 1 | 158 | 0.0063 | -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 | 158 | 0.0063 | -40 | c.*11 others(61): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132187344 | CTGCCCGG others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0154 | 1 | 158 | 0.0063 | -40 | c.*60 others(51): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2487 | chr10 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25695546 | GGGCGGCC others(33): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0215 | 1 | 328 | 0.0031 | -40 | c.394 others(57): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JMJD1C_chr10_63162225_63470977 | 63337550 | CAAGAAAA others(33): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG01175.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0090a0001c0001t0001g0091others(3): Show | 6 | 310 | 0.0194 | -40 | c.333 others(59): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar |