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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HECW2_chr2_196189072_196598554 | 196362318 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01358.hp1 others(8): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(7): Show | a0001c0001t0003g0023a0001c0001t0003g0029a0001c0001t0005g0069others(8): Show | 11 | 112 | 0.0982 | -16 | c.293 others(35): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196460776 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp1 others(2): Show |
a0001a0002 | a0001c0005a0001c0006a0002c0012others(1): Show | a0001c0005t0008a0001c0005t0012a0001c0006t0005others(2): Show | a0001c0005t0008g0097a0001c0005t0012g0056a0001c0006t0005g0096others(2): Show | 5 | 112 | 0.0446 | -16 | c.-35 others(35): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
HECW2_chr2_196189072_196598554 | 196491369 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 112 | 0.0089 | -16 | c.-35 others(35): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 125046398 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0006 | a0006c0086 | a0006c0086t0090 | a0006c0086t0090g0084 | 1 | 362 | 0.0028 | -16 | c.316 others(33): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
HELLS_chr10_94540788_94607099 | 94580117 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 358 | 0.0028 | -16 | c.103 others(35): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HELLS_chr10_94540788_94607099 | 94580152 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 358 | 0.0028 | -16 | c.103 others(35): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HELZ2_chr20_63553086_63579239 | 63553341 | GGTGGGAG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(186): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0006a0001c0022others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(114): Show | a0001c0001t0001g0132a0001c0001t0002g0143a0001c0001t0003g0014others(164): Show | 189 | 390 | 0.4846 | -16 | c.*58 others(27): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 4744 | chr20 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67125286 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG02922.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0032 | a0001c0001t0017g0098a0001c0003t0032g0096 | 2 | 274 | 0.0073 | -16 | c.338 others(35): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 24/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67129355 | TACATACA others(9): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0272 | 1 | 274 | 0.0037 | -16 | c.318 others(33): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 23/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67171304 | TAAACTCA others(9): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0260 | 1 | 274 | 0.0037 | -16 | c.143 others(35): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 13/32 | chr17 | TogoVar | ||||||
HEMGN_chr9_97921791_97943172 | 97923065 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG01243.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0019others(8): Show | 13 | 314 | 0.0414 | -16 | c.*43 others(27): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | ||||||
HEPACAM2_chr7_93183534_93231469 | 93206676 | TTGTGTTA others(9): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0176others(1): Show | 4 | 368 | 0.0109 | -16 | c.101 others(35): Show |
HEPACAM2 | ENSG00000188175.10 | transcript | ENST00000394468.7 | protein_coding | 4/9 | chr7 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94019136 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG03130.hp1 others(2): Show |
a0001a0011 | a0001c0001a0011c0031 | a0001c0001t0001a0011c0031t0001 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0123others(2): Show | 5 | 368 | 0.0136 | -16 | c.-22 others(27): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2217 | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94060092 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG02886.hp2 NA18522.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0018a0002c0002t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0018g0101a0002c0002t0001g0012others(1): Show | 4 | 368 | 0.0109 | -16 | c.416 others(33): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94078446 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(142): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0016a0001c0018others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0170a0001c0001t0001g0217a0001c0001t0001g0218others(139): Show | 145 | 368 | 0.3940 | -16 | c.171 others(35): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94084336 | TTAAATAA others(9): Show |
T | intron_variant | MODIFIER | HG01255.hp1 NA18940.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0164a0001c0001t0003g0277a0002c0002t0003g0167 | 3 | 368 | 0.0082 | -16 | c.186 others(35): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94093999 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02809.hp2 others(2): Show |
a0002a0013 | a0002c0005a0013c0030 | a0002c0005t0004a0013c0030t0004 | a0002c0005t0004g0076a0002c0005t0004g0078a0002c0005t0004g0079others(2): Show | 5 | 368 | 0.0136 | -16 | c.243 others(33): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94115572 | CATATATA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG02056.hp2 others(15): Show |
a0001a0004a0014 | a0001c0001a0004c0004a0014c0026 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0143a0001c0001t0001g0217others(15): Show | 18 | 368 | 0.0489 | -16 | c.*36 others(27): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1365 | chr11 | TogoVar | ||||||
HEPH_chrX_66159247_66272389 | 66206339 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG02129.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0100a0001c0001t0001g0183a0001c0003t0001g0030others(4): Show | 7 | 218 | 0.0321 | -16 | c.229 others(33): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HERC1_chr15_63603618_63838948 | 63737516 | GATATATA others(9): Show |
G | intron_variant | MODIFIER | HG01074.hp2 NA21309.hp1 |
a0004a0005 | a0004c0007a0005c0009 | a0004c0007t0001a0005c0009t0001 | a0004c0007t0001g0007a0005c0009t0001g0083 | 2 | 216 | 0.0093 | -16 | c.252 others(35): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63833747 | GCGCGCGC others(9): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0106 | 2 | 216 | 0.0093 | -16 | c.-27 others(29): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28245564 | TATACACA others(9): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0014t0003 | a0001c0001t0003g0111a0001c0001t0003g0113a0001c0001t0003g0139others(2): Show | 5 | 250 | 0.0200 | -16 | c.357 others(33): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 23/92 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28245566 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02027.hp1 NA19001.hp2 |
a0001 | a0001c0003a0001c0041 | a0001c0003t0001a0001c0041t0001 | a0001c0003t0001g0209a0001c0041t0001g0031 | 2 | 250 | 0.0080 | -16 | c.357 others(33): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 23/92 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28301729 | GTATGTGT others(9): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0030 | 1 | 250 | 0.0040 | -16 | c.73- others(31): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 2/92 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28301733 | GTGTATAT others(9): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG03516.hp2 HG03540.hp2 |
a0004 | a0004c0006 | a0004c0006t0002a0004c0006t0004 | a0004c0006t0002g0192a0004c0006t0002g0200a0004c0006t0004g0196 | 3 | 250 | 0.0120 | -16 | c.73- others(31): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 2/92 | chr15 | TogoVar | ||||||
HERC3_chr4_88587480_88713539 | 88654348 | TCATATAT others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0005a0002c0002others(3): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(14): Show | a0001c0004t0001g0269a0001c0004t0002g0265a0001c0004t0002g0274others(60): Show | 65 | 296 | 0.2196 | -16 | c.777 others(31): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 7/25 | chr4 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67927379 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA18612.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0077a0001c0002t0002g0011 | 2 | 360 | 0.0056 | -16 | c.283 others(35): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67946348 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01081.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0011others(1): Show | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0002t0001g0215others(6): Show | 9 | 360 | 0.0250 | -16 | c.233 others(35): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 19/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67974105 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 360 | 0.0028 | -16 | c.180 others(35): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 15/24 | chr10 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88430569 | CAAATAAA others(9): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 174 | 0.0058 | -16 | c.210 others(33): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HERPUD2_chr7_35627659_35700135 | 35631653 | TAAATTAT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 392 | 0.0026 | -16 | c.*20 others(27): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 1005 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35637160 | AAGATAGA others(9): Show |
A | intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0316 | 1 | 392 | 0.0026 | -16 | c.617 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 6/8 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35674400 | TATATAGA others(9): Show |
T | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0239 | 1 | 392 | 0.0026 | -16 | c.148 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35674402 | TATAGAGA others(9): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01975.hp1 NA18993.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0292a0002c0002t0002g0306a0002c0002t0002g0337others(1): Show | 4 | 392 | 0.0102 | -16 | c.148 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35674404 | TAGAGAGA others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00735.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0173a0001c0001t0003g0204a0001c0001t0004g0231others(24): Show | 27 | 392 | 0.0689 | -16 | c.148 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35682272 | TATATACA others(9): Show |
T | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 392 | 0.0026 | -16 | c.148 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35682357 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG02074.hp2 HG02135.hp2 HG03834.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0310a0002c0002t0002g0313a0002c0002t0002g0316others(5): Show | 8 | 392 | 0.0204 | -16 | c.148 others(33): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HESX1_chr3_57192838_57204978 | 57201871 | ATCTATAT others(9): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 336 | 0.0030 | -16 | c.-19 others(27): Show |
HESX1 | ENSG00000163666.10 | transcript | ENST00000295934.8 | protein_coding | 1894 | chr3 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91408663 | CTTCTTTC others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01258.hp2 HG01496.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0233a0001c0001t0001g0234a0001c0002t0001g0020others(1): Show | 4 | 362 | 0.0111 | -16 | c.-39 others(27): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 3827 | chr1 | TogoVar | ||||||
HGD_chr3_120623172_120687239 | 120626845 | CTATTTAT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01167.hp2 HG01169.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0120a0001c0001t0001g0145others(1): Show | 4 | 374 | 0.0107 | -16 | c.*15 others(27): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 1326 | chr3 | TogoVar | ||||||
HGFAC_chr4_3436968_3454486 | 3444041 | GCCCTGGA others(9): Show |
G | frameshift_variant | HIGH | HG00738.hp2 | a0027 | a0027c0042 | a0027c0042t0001 | a0027c0042t0001g0111 | 1 | 454 | 0.0022 | -16 | c.480 others(23): Show |
p.Leu others(5): Show |
HGFAC | ENSG00000109758.9 | transcript | ENST00000382774.8 | protein_coding | 5/14 | 514/2069 | 480/1968 | 160/655 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
HGF_chr7_81694010_81775047 | 81697198 | TTATATAT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0111a0001c0001t0009g0112 | 2 | 272 | 0.0074 | -16 | c.*53 others(27): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1811 | chr7 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210326918 | AATACATA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 268 | 0.0037 | -16 | c.-22 others(27): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1983 | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210326983 | TTTTTATT others(9): Show |
T | upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0018 | 1 | 268 | 0.0037 | -16 | c.-21 others(27): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1918 | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210428286 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02109.hp1 HG02451.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0106a0001c0001t0001g0200a0001c0001t0002g0162others(12): Show | 15 | 268 | 0.0560 | -16 | c.856 others(35): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210511780 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01070.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0099others(44): Show | 47 | 268 | 0.1754 | -16 | c.100 others(35): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210654094 | GGAATAGT others(9): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01081.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0023a0001c0001t0002g0132a0001c0001t0003g0103others(34): Show | 37 | 268 | 0.1381 | -16 | c.139 others(37): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210673762 | ATTATTTA others(9): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01934.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0002c0003t0002 | a0001c0001t0002g0069a0001c0001t0002g0078a0001c0001t0002g0086others(9): Show | 12 | 268 | 0.0448 | -16 | c.139 others(33): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99656832 | AAAGAAAG others(9): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0209 | 1 | 374 | 0.0027 | -16 | c.903 others(31): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99656836 | AAAGGAAG others(9): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG03704.hp1 NA18940.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0035a0001c0002t0003g0057a0001c0002t0003g0181 | 3 | 374 | 0.0080 | -16 | c.903 others(31): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |