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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HSPA4L_chr4_127777322_127845733 | 127841971 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0002g0007a0001c0001t0002g0013a0001c0001t0002g0014others(35): Show | 50 | 340 | 0.1471 | 9 | c.*90 others(20): Show |
HSPA4L | ENSG00000164070.12 | transcript | ENST00000296464.9 | protein_coding | 1239 | chr4 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133102913 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01358.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0014others(12): Show | a0001c0001t0003g0094a0001c0001t0008g0083a0001c0001t0014g0128others(14): Show | 17 | 364 | 0.0467 | 9 | c.215 others(26): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSPB8_chr12_119173931_119199746 | 119194705 | T | TTAATAAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02015.hp2 HG02135.hp2 NA18944.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006a0001c0001t0009g0023a0001c0001t0009g0108 | 6 | 418 | 0.0144 | 9 | c.*86 others(18): Show |
HSPB8 | ENSG00000152137.8 | transcript | ENST00000281938.7 | protein_coding | 3/3 | 872 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
HSPBP1_chr19_55257223_55285110 | 55279518 | A | AGCCGCCG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(204): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(132): Show | 207 | 314 | 0.6592 | 9 | c.82_ others(14): Show |
p.Gly others(11): Show |
HSPBP1 | ENSG00000133265.11 | transcript | ENST00000433386.7 | protein_coding | 2/8 | 260/1635 | 90/1080 | 30/359 | chr19 | TogoVar | ||
HTATSF1_chrX_136492592_136517346 | 136509760 | G | GAGCCAGG others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 276 | 0.0036 | 9 | c.925 others(24): Show |
HTATSF1 | ENSG00000102241.12 | transcript | ENST00000218364.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTN1_chr4_70045438_70063848 | 70047376 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp1 others(115): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(18): Show | 118 | 440 | 0.2682 | 9 | c.-31 others(20): Show |
HTN1 | ENSG00000126550.10 | transcript | ENST00000246896.8 | protein_coding | 3061 | chr4 | TogoVar | ||||||
HTR1E_chr6_86932528_87021679 | 86980393 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(57): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0017others(45): Show | 60 | 300 | 0.2000 | 9 | c.-18 others(30): Show |
HTR1E | ENSG00000168830.8 | transcript | ENST00000305344.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HTR2A_chr13_46826546_46902053 | 46873427 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0100a0001c0001t0001g0111others(3): Show | 6 | 336 | 0.0179 | 9 | c.613 others(28): Show |
HTR2A | ENSG00000102468.11 | transcript | ENST00000542664.4 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114583777 | T | TGTGTGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 176 | 0.0057 | 9 | c.-10 others(20): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 308 | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114626227 | A | AAAAAATA others(2): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 176 | 0.0057 | 9 | c.-80 others(28): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114641055 | T | TCTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0006 | 2 | 176 | 0.0114 | 9 | c.-80 others(28): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 2/5 | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114734564 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0163a0002c0002t0002g0008a0002c0002t0002g0038 | 3 | 176 | 0.0171 | 9 | c.349 others(26): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114741524 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0175 | 2 | 176 | 0.0114 | 9 | c.349 others(26): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114800821 | C | CCCATAGG others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 176 | 0.0057 | 9 | c.350 others(28): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114805846 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0140 | 1 | 176 | 0.0057 | 9 | c.350 others(28): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114805868 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 176 | 0.0057 | 9 | c.350 others(28): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR3C_chr3_184048047_184065673 | 184055884 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01109.hp1 others(27): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0001 | a0002c0002t0001g0016a0002c0002t0002g0108a0003c0003t0001g0005others(3): Show | 30 | 442 | 0.0679 | 9 | c.280 others(24): Show |
HTR3C | ENSG00000178084.2 | transcript | ENST00000318351.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR3C_chr3_184048047_184065673 | 184065521 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01074.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(18): Show | 35 | 442 | 0.0792 | 9 | c.*51 others(20): Show |
HTR3C | ENSG00000178084.2 | transcript | ENST00000318351.2 | protein_coding | 4849 | chr3 | TogoVar | ||||||
HTR4_chr5_148476547_148659527 | 148547562 | A | AAAATAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01167.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0174a0001c0001t0001g0187a0001c0001t0001g0188others(25): Show | 28 | 310 | 0.0903 | 9 | c.353 others(26): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 4/6 | chr5 | TogoVar | ||||||
HTR4_chr5_148476547_148659527 | 148576110 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(75): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0174a0001c0001t0001g0191a0001c0001t0001g0195others(75): Show | 78 | 310 | 0.2516 | 9 | c.27- others(26): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 2/6 | chr5 | TogoVar | ||||||
HTR4_chr5_148476547_148659527 | 148576119 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02300.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0017a0001c0004t0001others(1): Show | a0001c0001t0001g0160a0001c0001t0001g0172a0001c0001t0001g0214others(4): Show | 7 | 310 | 0.0226 | 9 | c.27- others(26): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 2/6 | chr5 | TogoVar | ||||||
HTR4_chr5_148476547_148659527 | 148576120 | A | AAAAACAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02258.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0188others(13): Show | 16 | 310 | 0.0516 | 9 | c.27- others(26): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 2/6 | chr5 | TogoVar | ||||||
HTR5A_chr7_155065324_155092392 | 155073323 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG01167.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0084a0001c0001t0003g0083a0001c0001t0005g0034others(12): Show | 17 | 430 | 0.0395 | 9 | c.741 others(26): Show |
HTR5A | ENSG00000157219.5 | transcript | ENST00000287907.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HTR5A_chr7_155065324_155092392 | 155078751 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(131): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0037others(48): Show | 134 | 430 | 0.3116 | 9 | c.742 others(26): Show |
HTR5A | ENSG00000157219.5 | transcript | ENST00000287907.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HTR6_chr1_19659875_19685966 | 19663681 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02809.hp2 NA18986.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0010a0001c0006t0015 | a0001c0001t0001g0047a0001c0001t0010g0020a0001c0006t0015g0119 | 6 | 400 | 0.0150 | 9 | c.-20 others(20): Show |
HTR6 | ENSG00000158748.4 | transcript | ENST00000289753.2 | protein_coding | 1193 | chr1 | TogoVar | ||||||
HTR7_chr10_90735823_90863039 | 90858055 | C | CCCGCCGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00642.hp2 others(50): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0063a0001c0001t0001g0068a0001c0001t0001g0090others(50): Show | 53 | 404 | 0.1312 | 9 | c.-38 others(18): Show |
HTR7 | ENSG00000148680.16 | transcript | ENST00000336152.8 | protein_coding | 17 | chr10 | TogoVar | ||||||
HTRA1_chr10_122456553_122519907 | 122496225 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02071.hp1 HG02895.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0091a0001c0001t0001g0103others(11): Show | 14 | 362 | 0.0387 | 9 | c.777 others(26): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HTT_chr4_3069681_3248957 | 3074945 | A | ACCGCCGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01433.hp2 HG02056.hp2 HG03017.hp1 others(1): Show |
a0034a0081a0084 | a0034c0038a0081c0109a0084c0115 | a0034c0038t0002a0081c0109t0002a0084c0115t0017 | a0034c0038t0002g0192a0034c0038t0002g0285a0081c0109t0002g0264others(1): Show | 4 | 294 | 0.0136 | 9 | c.135 others(16): Show |
p.Pro others(11): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 289/13472 | 144/9429 | 48/3142 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
HTT_chr4_3069681_3248957 | 3074966 | G | GCCGCCGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(8): Show |
a0022a0023a0077others(4): Show | a0022c0023a0023c0039a0023c0103others(5): Show | a0022c0023t0003a0023c0039t0015a0023c0039t0016others(6): Show | a0022c0023t0003g0013a0022c0023t0003g0016a0022c0023t0003g0019others(8): Show | 11 | 294 | 0.0374 | 9 | c.143 others(16): Show |
p.Pro others(11): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 289/13472 | 144/9429 | 48/3142 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
HTT_chr4_3069681_3248957 | 3210904 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01515.hp2 others(17): Show |
a0012a0017a0020others(9): Show | a0012c0012a0012c0077a0017c0018others(11): Show | a0012c0012t0003a0012c0077t0003a0017c0018t0003others(12): Show | a0012c0012t0003g0087a0012c0012t0003g0089a0012c0012t0003g0095others(17): Show | 20 | 294 | 0.0680 | 9 | c.641 others(26): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 47/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HUWE1_chrX_53527096_53691719 | 53577457 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0029 | 1 | 214 | 0.0047 | 9 | c.571 others(26): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53577468 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0020 | a0001c0020t0003 | a0001c0020t0003g0030 | 1 | 214 | 0.0047 | 9 | c.571 others(26): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53658049 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0105 | 2 | 214 | 0.0094 | 9 | c.-24 others(26): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | TogoVar | ||||||
HYAL1_chr3_50294893_50308574 | 50304274 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01175.hp1 others(6): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0010c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0010c0010t0001g0022 | 9 | 384 | 0.0234 | 9 | c.-84 others(18): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 701 | chr3 | TogoVar | ||||||
HYAL3_chr3_50287832_50304405 | 50304274 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01175.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0002c0002t0001g0002 | 10 | 378 | 0.0265 | 9 | c.-50 others(20): Show |
HYAL3 | ENSG00000186792.17 | transcript | ENST00000336307.6 | protein_coding | 4870 | chr3 | TogoVar | ||||||
HYCC2_chr2_200968718_201076671 | 201056205 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02886.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0021a0001c0001t0034others(1): Show | a0001c0001t0005g0019a0001c0001t0005g0147a0001c0001t0005g0148others(8): Show | 11 | 176 | 0.0625 | 9 | c.-12 others(30): Show |
HYCC2 | ENSG00000155744.10 | transcript | ENST00000681958.1 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
HYKK_chr15_78502577_78541645 | 78508880 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(117): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0006a0006c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(102): Show | 120 | 412 | 0.2913 | 9 | c.-6+ others(24): Show |
HYKK | ENSG00000188266.14 | transcript | ENST00000388988.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IARS1_chr9_92205207_92298697 | 92236376 | T | TGGAAGAG others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01123.hp1 others(33): Show |
a0002a0005 | a0002c0002a0002c0005a0005c0007 | a0002c0002t0002a0002c0005t0002a0005c0007t0002 | a0002c0002t0002g0174a0002c0002t0002g0177a0002c0002t0002g0221others(33): Show | 36 | 338 | 0.1065 | 9 | c.328 others(28): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 30/33 | chr9 | TogoVar | ||||||
IARS1_chr9_92205207_92298697 | 92260716 | T | TTTGAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01168.hp1 others(18): Show |
a0002a0003 | a0002c0004a0003c0006 | a0002c0004t0003a0002c0004t0006a0002c0004t0007others(1): Show | a0002c0004t0003g0018a0002c0004t0003g0019a0002c0004t0003g0020others(18): Show | 21 | 338 | 0.0621 | 9 | c.178 others(26): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 17/33 | chr9 | TogoVar | ||||||
IARS1_chr9_92205207_92298697 | 92292181 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02257.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0037a0001c0001t0004g0036a0001c0001t0004g0038others(4): Show | 7 | 338 | 0.0207 | 9 | c.-8+ others(24): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 1/33 | chr9 | TogoVar | ||||||
IBTK_chr6_82164987_82252744 | 82197373 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0001a0002a0004 | a0001c0004a0001c0010a0002c0002others(2): Show | a0001c0004t0002a0001c0010t0002a0002c0002t0002others(2): Show | a0001c0004t0002g0067a0001c0004t0002g0268a0001c0004t0002g0269others(87): Show | 91 | 296 | 0.3074 | 9 | c.302 others(26): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 21/28 | chr6 | TogoVar | ||||||
IBTK_chr6_82164987_82252744 | 82237653 | A | ATAGTAGT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01169.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0004t0002others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0105a0001c0001t0001g0111others(20): Show | 24 | 296 | 0.0811 | 9 | c.321 others(26): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 2/28 | chr6 | TogoVar | ||||||
ICA1L_chr2_202768176_202876766 | 202860273 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00741.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0081a0001c0001t0002g0094a0001c0001t0002g0106others(33): Show | 36 | 330 | 0.1091 | 9 | c.-8+ others(26): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01981.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0108a0001c0001t0001g0207others(17): Show | 20 | 274 | 0.0730 | 9 | c.804 others(26): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8195977 | C | CACAACAA others(2): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02486.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0005others(1): Show | a0001c0001t0001g0268a0001c0001t0004g0197a0001c0002t0005g0137others(1): Show | 4 | 274 | 0.0146 | 9 | c.579 others(28): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 6/13 | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8255779 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(2): Show | a0001c0001t0001g0258a0001c0001t0002g0098a0001c0002t0004g0089others(2): Show | 5 | 274 | 0.0183 | 9 | c.-80 others(26): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
ICE2_chr15_60414609_60484142 | 60456540 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01099.hp2 others(29): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0012others(1): Show | a0001c0002t0001g0010a0001c0002t0001g0011a0001c0002t0001g0034others(27): Show | 32 | 270 | 0.1185 | 9 | c.666 others(24): Show |
ICE2 | ENSG00000128915.12 | transcript | ENST00000261520.9 | protein_coding | 6/15 | chr15 | TogoVar | ||||||
IDE_chr10_92446684_92579093 | 92524439 | A | ATAATATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(4): Show | 7 | 314 | 0.0223 | 9 | c.661 others(26): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | ||||||
IDE_chr10_92446684_92579093 | 92552857 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(70): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0037others(70): Show | 73 | 314 | 0.2325 | 9 | c.99- others(26): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
IDH3A_chr15_78144362_78176945 | 78158464 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01081.hp2 NA18950.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0021a0001c0003t0003g0079 | 3 | 386 | 0.0078 | 9 | c.174 others(24): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | chr15 | TogoVar |