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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HERC6_chr4_88373852_88448097 | 88379733 | A | AAATATAT others(17): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0142 | 1 | 174 | 0.0058 | 24 | c.199 others(39): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35631810 | T | TATTATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(7): Show |
10 | 392 | 0.0255 | 24 | c.*18 others(35): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 848 | chr7 | TogoVar | |||||||
HES4_chr1_993964_1005097 | 998764 | C | CGGAGGGG others(17): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG01106.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0005c0004t0001g0010 |
9 | 396 | 0.0227 | 24 | c.*29 others(33): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 199 | chr1 | TogoVar | |||||||
HES7_chr17_8115592_8129106 | 8128308 | C | CTAGATAG others(17): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 446 | 0.0022 | 24 | c.-42 others(35): Show |
HES7 | ENSG00000179111.9 | transcript | ENST00000541682.7 | protein_coding | 4203 | chr17 | TogoVar | |||||||
HES7_chr17_8115592_8129106 | 8128314 | A | AGATAGAT others(17): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 HG04184.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0008 | 2 | 446 | 0.0045 | 24 | c.-42 others(35): Show |
HES7 | ENSG00000179111.9 | transcript | ENST00000541682.7 | protein_coding | 4209 | chr17 | TogoVar | |||||||
HES7_chr17_8115592_8129106 | 8128322 | A | AGATAGAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0008 | 1 | 446 | 0.0022 | 24 | c.-42 others(35): Show |
HES7 | ENSG00000179111.9 | transcript | ENST00000541682.7 | protein_coding | 4217 | chr17 | TogoVar | |||||||
HEXA_chr15_72335924_72381014 | 72338303 | C | CATCTGTC others(17): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0202 | 1 | 354 | 0.0028 | 24 | c.*57 others(35): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 2620 | chr15 | TogoVar | |||||||
HEXA_chr15_72335924_72381014 | 72340841 | T | TCACACAC others(17): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 354 | 0.0028 | 24 | c.*32 others(35): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 82 | chr15 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 400 | 0.0025 | 24 | c.283 others(39): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 400 | 0.0025 | 24 | c.283 others(39): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433128 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0258 | 1 | 400 | 0.0025 | 24 | c.283 others(39): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79769371 | A | ATCTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG01358.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(1): Show |
17 | 460 | 0.0370 | 24 | c.-17 others(35): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1605 | chr8 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91264359 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 362 | 0.0028 | 24 | c.397 others(43): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0009 | a0009c0017 | a0009c0017t0001 | a0009c0017t0001g0254 | 1 | 362 | 0.0028 | 24 | c.397 others(43): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91408655 | C | CTTCTTTC others(17): Show |
upstream_gene_variant | MODIFIER | NA18987.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0286 |
2 | 362 | 0.0055 | 24 | c.-38 others(35): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 3819 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91408663 | C | CTTCTTTC others(17): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01952.hp1 HG02293.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0070 a0001c0001t0001g0264 a0001c0001t0001g0266 others(3): Show |
6 | 362 | 0.0166 | 24 | c.-38 others(35): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 3827 | chr1 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120624656 | A | ATGTATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0320 | 1 | 374 | 0.0027 | 24 | c.*37 others(35): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 3515 | chr3 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120624712 | G | GGAGAGAG others(17): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0156 a0001c0001t0001g0193 a0001c0001t0001g0223 others(5): Show |
8 | 374 | 0.0214 | 24 | c.*36 others(35): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 3459 | chr3 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120630798 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0054 | 1 | 374 | 0.0027 | 24 | c.118 others(43): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 13/13 | chr3 | TogoVar | |||||||
HGFAC_chr4_3436968_3454486 | 3442026 | A | AGCCCCTG others(17): Show |
disruptive_inframe_insertion | MODERATE | NA18985.hp1 | a0026 | a0026c0034 | a0026c0034t0001 | a0026c0034t0001g0001 | 1 | 454 | 0.0022 | 24 | c.32_ others(29): Show |
p.Trp others(11): Show |
HGFAC | ENSG00000109758.9 | transcript | ENST00000382774.8 | protein_coding | 1/14 | 90/2069 | 56/1968 | 19/655 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
HGF_chr7_81694010_81775047 | 81697198 | T | TTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG02523.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0150 others(3): Show |
6 | 272 | 0.0221 | 24 | c.*53 others(35): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1811 | chr7 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81722845 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0140 a0001c0002t0004g0256 a0001c0002t0004g0257 others(2): Show |
5 | 272 | 0.0184 | 24 | c.116 others(43): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 9/17 | chr7 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43181082 | G | GGAGGGAG others(17): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03669.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0128 a0001c0001t0001g0164 a0001c0001t0006g0225 |
3 | 234 | 0.0128 | 24 | c.101 others(41): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HHATL_chr3_42687663_42707798 | 42699734 | G | GACCCTGG others(17): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 412 | 0.0024 | 24 | c.174 others(34): Show |
HHATL | ENSG00000010282.15 | transcript | ENST00000441594.6 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210326926 | C | CATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0067 | 1 | 268 | 0.0037 | 24 | c.-22 others(35): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1975 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0213 | 1 | 268 | 0.0037 | 24 | c.-21 others(35): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0174 | 1 | 268 | 0.0037 | 24 | c.-21 others(35): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210334178 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02293.hp1 NA18992.hp1 NA19091.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0017 | a0001c0001t0001g0226 a0001c0001t0001g0268 a0003c0004t0017g0134 |
3 | 268 | 0.0112 | 24 | c.-44 others(41): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210336287 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG01891.hp2 others(2): Show |
a0001a0003a0007 | a0001c0001a0003c0007a0007c0011 | a0001c0001t0001a0001c0001t0002a0003c0007t0004others(1): Show | a0001c0001t0001g0117 a0001c0001t0001g0145 a0001c0001t0002g0129 others(2): Show |
5 | 268 | 0.0187 | 24 | c.-44 others(41): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210386230 | C | CTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG00733.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 a0001c0001t0002g0112 |
2 | 268 | 0.0075 | 24 | c.160 others(41): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210465849 | T | TATTGCAA others(17): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01975.hp2 HG02040.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0156 a0001c0001t0002g0151 a0001c0001t0004g0031 others(4): Show |
7 | 268 | 0.0261 | 24 | c.100 others(43): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210601937 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 268 | 0.0037 | 24 | c.124 others(45): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99661421 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01928.hp1 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0003g0010 others(13): Show |
17 | 374 | 0.0455 | 24 | c.150 others(43): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222546047 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00609.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0010others(4): Show | a0001c0001t0001a0001c0003t0001a0002c0010t0001others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0001g0056 others(21): Show |
26 | 418 | 0.0622 | 24 | c.321 others(41): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HHIPL2_chr1_222517264_222553104 | 222550921 | C | CATAGATA others(17): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0150 | 1 | 418 | 0.0024 | 24 | c.-28 others(35): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 2818 | chr1 | TogoVar | |||||||
HHIPL2_chr1_222517264_222553104 | 222552222 | T | TAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0314 | 1 | 418 | 0.0024 | 24 | c.-41 others(35): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 4119 | chr1 | TogoVar | |||||||
HHLA2_chr3_108291548_108383285 | 108321091 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0047 | 1 | 322 | 0.0031 | 24 | c.-27 others(43): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HIC1_chr17_2050103_2068241 | 2066652 | T | TACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 414 | 0.0024 | 24 | c.*78 others(35): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 3412 | chr17 | TogoVar | |||||||
HIC2_chr22_21412371_21456463 | 21433536 | C | CAGCTAGC others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0176 | 1 | 288 | 0.0035 | 24 | c.-73 others(41): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HIF1AN_chr10_100530943_100564998 | 100563333 | C | CTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 320 | 0.0031 | 24 | c.*15 others(37): Show |
HIF1AN | ENSG00000166135.14 | transcript | ENST00000299163.7 | protein_coding | 3336 | chr10 | TogoVar | |||||||
HIF1A_chr14_61690513_61753258 | 61724349 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18949.hp2 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0174 a0001c0001t0001g0244 |
3 | 322 | 0.0093 | 24 | c.458 others(41): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46292110 | T | TCATCCAT others(17): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0015 | 1 | 418 | 0.0024 | 24 | c.-49 others(35): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 4931 | chr19 | TogoVar | |||||||
HIGD2B_chr15_72670798_72691182 | 72688411 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 436 | 0.0023 | 24 | c.-27 others(35): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 2230 | chr15 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86307283 | T | TATGTGTA others(17): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0368 | 1 | 398 | 0.0025 | 24 | c.268 others(39): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86308559 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(113): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 others(104): Show |
116 | 398 | 0.2915 | 24 | c.268 others(41): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86308577 | T | TTATTTAT others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 398 | 0.0025 | 24 | c.268 others(41): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0115 others(6): Show |
9 | 398 | 0.0226 | 24 | c.268 others(43): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HINFP_chr11_119116580_119141059 | 119129490 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0208 | 1 | 404 | 0.0025 | 24 | c.182 others(41): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75551189 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 254 | 0.0039 | 24 | c.229 others(43): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 22/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75595231 | T | TCTTCCTT others(17): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0155 | 1 | 254 | 0.0039 | 24 | c.185 others(41): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar |