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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HELZ2_chr20_63553086_63579239 | 63559398 | C | CAGTCAGG others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0090 | a0090c0130 | a0090c0130t0013 | a0090c0130t0013g0262 | 1 | 390 | 0.0026 | 20 | c.782 others(35): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559719 | C | CAGTCAGG others(13): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0061 | a0001c0061t0105 | a0001c0061t0105g0177 | 1 | 390 | 0.0026 | 20 | c.782 others(37): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67086631 | A | AATATAAA others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 274 | 0.0037 | 20 | c.549 others(37): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 32/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67086631 | A | AATATAAA others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0047 | a0001c0001t0004g0270 a0002c0002t0047g0082 |
2 | 274 | 0.0073 | 20 | c.549 others(37): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 32/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67086631 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01258.hp2 NA19088.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0014a0002c0002t0048 | a0002c0002t0003g0052 a0002c0002t0014g0017 a0002c0002t0048g0070 |
3 | 274 | 0.0110 | 20 | c.549 others(37): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 32/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATAGAGA others(13): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0008 | a0008c0010 | a0008c0010t0023 | a0008c0010t0023g0028 | 1 | 274 | 0.0037 | 20 | c.524 others(39): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATAGA others(13): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0244 a0001c0001t0018g0002 |
2 | 274 | 0.0073 | 20 | c.524 others(39): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18994.hp2 NA19000.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0192 a0002c0002t0003g0039 a0002c0002t0003g0071 |
3 | 274 | 0.0110 | 20 | c.524 others(39): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01346.hp1 NA18612.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0003a0002c0002t0025 | a0001c0001t0006g0251 a0002c0002t0003g0013 a0002c0002t0025g0024 others(1): Show |
4 | 274 | 0.0146 | 20 | c.524 others(39): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19064.hp2 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0003a0002c0011t0003 | a0002c0002t0003g0027 a0002c0011t0003g0018 |
2 | 274 | 0.0073 | 20 | c.524 others(39): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0043 | 1 | 274 | 0.0037 | 20 | c.524 others(39): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67209025 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0039 | a0001c0001t0018g0002 a0001c0001t0018g0004 a0001c0001t0039g0003 |
3 | 274 | 0.0110 | 20 | c.248 others(37): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 5/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67209033 | A | AAGGGAGA others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0041others(2): Show | a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0257 others(15): Show |
18 | 274 | 0.0657 | 20 | c.248 others(37): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 5/32 | chr17 | TogoVar | |||||||
HEMK1_chr3_50564522_50601166 | 50591663 | C | CGTGTGTG others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG01993.hp2 HG02040.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0027a0001c0002t0044others(2): Show | a0001c0001t0033g0001 a0001c0002t0027g0002 a0001c0002t0044g0002 others(2): Show |
9 | 320 | 0.0281 | 20 | c.*11 others(33): Show |
HEMK1 | ENSG00000114735.10 | transcript | ENST00000232854.9 | protein_coding | 11/11 | 11281 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HEPACAM_chr11_124914205_124941047 | 124916020 | T | TCTCTCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG02135.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0019others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0005g0003 others(4): Show |
10 | 420 | 0.0238 | 20 | c.*51 others(31): Show |
HEPACAM | ENSG00000165478.8 | transcript | ENST00000298251.5 | protein_coding | 3184 | chr11 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94042875 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0359 | 1 | 368 | 0.0027 | 20 | c.171 others(37): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94078446 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 368 | 0.0027 | 20 | c.171 others(39): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATAGATA others(13): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 368 | 0.0027 | 20 | c.243 others(37): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATAGATA others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 368 | 0.0027 | 20 | c.243 others(37): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG02071.hp2 others(5): Show |
a0001a0005a0014 | a0001c0001a0001c0029a0005c0008others(1): Show | a0001c0001t0001a0001c0029t0010a0005c0008t0010others(1): Show | a0001c0001t0001g0170 a0001c0001t0001g0223 a0001c0001t0001g0315 others(5): Show |
8 | 368 | 0.0217 | 20 | c.243 others(37): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94115572 | C | CATATATA others(13): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0008 | 1 | 368 | 0.0027 | 20 | c.*36 others(31): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1365 | chr11 | TogoVar | |||||||
HEPH_chrX_66159247_66272389 | 66200241 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 2 | 218 | 0.0092 | 20 | c.186 others(37): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HEPN1_chr11_124914250_124925677 | 124916020 | T | TCTCTCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG02135.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
10 | 428 | 0.0234 | 20 | c.-37 others(31): Show |
HEPN1 | ENSG00000221932.7 | transcript | ENST00000408930.7 | protein_coding | 3229 | chr11 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63720103 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0190 |
2 | 216 | 0.0093 | 20 | c.374 others(39): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63737547 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0007 | a0007c0037 | a0007c0037t0001 | a0007c0037t0001g0100 | 1 | 216 | 0.0046 | 20 | c.252 others(39): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63744164 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0037 | 1 | 216 | 0.0046 | 20 | c.252 others(39): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63744164 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0043 | 1 | 216 | 0.0046 | 20 | c.252 others(39): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63789801 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 216 | 0.0046 | 20 | c.-26 others(39): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63821726 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0068 | 1 | 216 | 0.0046 | 20 | c.-27 others(39): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826806 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 216 | 0.0046 | 20 | c.-27 others(37): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63829472 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0007 | a0007c0037 | a0007c0037t0001 | a0007c0037t0001g0100 | 1 | 216 | 0.0046 | 20 | c.-27 others(37): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28279615 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0071 | a0003c0071t0002 | a0003c0071t0002g0005 | 1 | 250 | 0.0040 | 20 | c.542 others(35): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 5/92 | chr15 | TogoVar | |||||||
HES2_chr1_6410232_6424919 | 6420724 | C | CGGGCCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG00738.hp1 others(156): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0026 others(26): Show |
159 | 362 | 0.4392 | 20 | c.-90 others(29): Show |
HES2 | ENSG00000069812.11 | transcript | ENST00000377834.8 | protein_coding | 806 | chr1 | TogoVar | |||||||
HES7_chr17_8115592_8129106 | 8128308 | C | CTAGATAG others(13): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 446 | 0.0045 | 20 | c.-42 others(31): Show |
HES7 | ENSG00000179111.9 | transcript | ENST00000541682.7 | protein_coding | 4203 | chr17 | TogoVar | |||||||
HES7_chr17_8115592_8129106 | 8128318 | A | AGATAGAT others(13): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0008 | 1 | 446 | 0.0022 | 20 | c.-42 others(31): Show |
HES7 | ENSG00000179111.9 | transcript | ENST00000541682.7 | protein_coding | 4213 | chr17 | TogoVar | |||||||
HEXA_chr15_72335924_72381014 | 72338303 | C | CATCTATC others(13): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG02132.hp2 NA18939.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0184 others(3): Show |
7 | 354 | 0.0198 | 20 | c.*57 others(31): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 2620 | chr15 | TogoVar | |||||||
HEXA_chr15_72335924_72381014 | 72338303 | C | CATCTGTC others(13): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0200 | 1 | 354 | 0.0028 | 20 | c.*57 others(31): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 2620 | chr15 | TogoVar | |||||||
HEXA_chr15_72335924_72381014 | 72340841 | T | TCACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG02004.hp2 HG02132.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0104 others(6): Show |
10 | 354 | 0.0283 | 20 | c.*32 others(31): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 82 | chr15 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82424997 | A | AAGGCCGG others(13): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 400 | 0.0025 | 20 | c.194 others(35): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82425032 | T | TGGAGGAG others(13): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0043 | 1 | 400 | 0.0025 | 20 | c.194 others(35): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82425138 | G | GGAGAAGG others(13): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0150 | 1 | 400 | 0.0025 | 20 | c.194 others(35): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433077 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105 | 1 | 400 | 0.0025 | 20 | c.283 others(35): 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(13): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 400 | 0.0025 | 20 | c.283 others(35): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG02040.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0208 a0001c0001t0001g0226 a0001c0001t0001g0246 others(8): Show |
11 | 362 | 0.0304 | 20 | c.397 others(39): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91408663 | C | CTTCTTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01192.hp2 HG01346.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0184 others(11): Show |
14 | 362 | 0.0387 | 20 | c.-38 others(31): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 3827 | chr1 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120624712 | G | GGAGAGAG others(13): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02602.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0044 others(13): Show |
16 | 374 | 0.0428 | 20 | c.*36 others(31): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 3459 | chr3 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120630798 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02280.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0005t0001others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0082 a0002c0002t0001g0182 others(3): Show |
6 | 374 | 0.0160 | 20 | c.118 others(39): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 13/13 | chr3 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81697198 | T | TTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG02258.hp1 NA18747.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0087 a0001c0001t0002g0127 a0001c0001t0002g0152 others(3): Show |
6 | 272 | 0.0221 | 20 | c.*53 others(31): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1811 | chr7 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81722845 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004a0001c0002t0005 | a0001c0001t0005g0107 a0001c0001t0005g0133 a0001c0001t0005g0134 others(5): Show |
8 | 272 | 0.0294 | 20 | c.116 others(39): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 9/17 | chr7 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81736894 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0130 a0001c0001t0005g0140 |
2 | 272 | 0.0074 | 20 | c.865 others(37): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 7/17 | chr7 | TogoVar |