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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HIP1_chr7_75528298_75743941 | 75595255 | C | CCTTCCTT others(8): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 254 | 0.0039 | 15 | c.185 others(32): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75682581 | G | GAAAACAA others(8): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01975.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0160 a0001c0001t0002g0035 a0001c0001t0002g0050 others(10): Show |
13 | 254 | 0.0512 | 15 | c.120 others(34): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75696562 | T | TTCCCCTC others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03540.hp1 NA21309.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0013a0003c0006t0004 | a0001c0001t0003g0232 a0001c0001t0013g0231 a0003c0006t0004g0173 |
3 | 254 | 0.0118 | 15 | c.120 others(34): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIPK1_chr1_113924324_113982869 | 113938927 | A | AAATATAC others(8): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0328 | 1 | 382 | 0.0026 | 15 | c.-2- others(30): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HIPK1_chr1_113924324_113982869 | 113938927 | A | ATATACAC others(8): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18906.hp2 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0186 a0001c0001t0001g0203 |
3 | 382 | 0.0079 | 15 | c.-2- others(30): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
HIPK2_chr7_139556570_139782998 | 139633095 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0008a0001c0001t0034a0001c0015t0035 | a0001c0001t0008g0029 a0001c0001t0008g0119 a0001c0001t0034g0133 others(1): Show |
4 | 154 | 0.0260 | 15 | c.110 others(34): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
HIPK2_chr7_139556570_139782998 | 139634674 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0015a0001c0003t0045a0001c0003t0074others(2): Show | a0001c0003t0015g0103 a0001c0003t0045g0028 a0001c0003t0074g0036 others(3): Show |
6 | 154 | 0.0390 | 15 | c.110 others(34): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
HIPK3_chr11_33252381_33362023 | 33258933 | A | AATTTCAA others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 342 | 0.0029 | 15 | c.-3+ others(30): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
HIRA_chr22_19325698_19436733 | 19390601 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0165 | 1 | 364 | 0.0028 | 15 | c.936 others(32): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 9/24 | chr22 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12046876 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029 | 1 | 344 | 0.0029 | 15 | c.40+ others(32): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142803597 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 288 | 0.0035 | 15 | c.-52 others(36): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142818733 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 288 | 0.0035 | 15 | c.-52 others(36): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142818790 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 | 1 | 288 | 0.0035 | 15 | c.-52 others(36): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142820297 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 288 | 0.0035 | 15 | c.-52 others(36): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142856252 | G | GCACCACT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(110): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(23): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(110): Show |
113 | 288 | 0.3924 | 15 | c.-64 others(36): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41545009 | C | CACCATCA others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0033 | 1 | 134 | 0.0075 | 15 | c.520 others(36): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41605183 | G | GAGGGGAG others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0013 | a0013c0015 | a0013c0015t0014 | a0013c0015t0014g0024 | 1 | 134 | 0.0075 | 15 | c.-52 others(36): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAAAAAAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0058 a0001c0002t0002g0138 |
2 | 280 | 0.0071 | 15 | c.-28 others(26): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG03831.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0002a0001c0004t0002 | a0001c0001t0002g0069 a0001c0003t0002g0053 a0001c0004t0002g0051 |
3 | 280 | 0.0107 | 15 | c.-28 others(26): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01074.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0001g0206 others(3): Show |
6 | 280 | 0.0214 | 15 | c.-28 others(26): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 280 | 0.0036 | 15 | c.-28 others(26): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK2_chr2_74829127_74898359 | 74873746 | A | AAGAAGGA others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02615.hp2 others(4): Show |
a0002a0004 | a0002c0004a0004c0008 | a0002c0004t0009a0004c0008t0006a0004c0008t0010 | a0002c0004t0009g0115 a0004c0008t0006g0105 a0004c0008t0010g0111 others(4): Show |
7 | 394 | 0.0178 | 15 | c.592 others(28): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HK2_chr2_74829127_74898359 | 74873746 | A | AAGGAGGA others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0010 | a0002c0010t0006 | a0002c0010t0006g0232 | 1 | 394 | 0.0025 | 15 | c.592 others(28): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HKDC1_chr10_69215332_69272552 | 69233897 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0315 | 1 | 380 | 0.0026 | 15 | c.495 others(30): Show |
HKDC1 | ENSG00000156510.13 | transcript | ENST00000354624.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HLA-DPB1_chr6_33070990_33094696 | 33090976 | A | AAATTTCT others(8): Show |
downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 455 | 0.0022 | 15 | c.*44 others(26): Show |
HLA-DPB1 | ENSG00000223865.11 | transcript | ENST00000418931.7 | protein_coding | 1281 | chr6 | TogoVar | |||||||
HLA-DQB1_chr6_32654467_32671657 | 32655261 | T | TTATTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(112): Show |
a0001a0004a0009others(1): Show | a0001c0001a0004c0004a0009c0010others(1): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0014others(5): Show | a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 others(10): Show |
115 | 402 | 0.2861 | 15 | c.*49 others(26): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 4205 | chr6 | TogoVar | |||||||
HLA-DRA_chr6_32434887_32450046 | 32435620 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01167.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0050 others(2): Show |
49 | 459 | 0.1068 | 15 | c.-43 others(26): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 4266 | chr6 | TogoVar | |||||||
HLA-DRA_chr6_32434887_32450046 | 32439070 | T | TAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 NA18522.hp2 NA18906.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 6 | 459 | 0.0131 | 15 | c.-88 others(24): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 816 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722774 | G | GGAAGAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 NA19078.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0004t0001g0001 |
2 | 443 | 0.0045 | 15 | c.-69 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 659 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722786 | G | GGAAGAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008 | 1 | 443 | 0.0023 | 15 | c.-67 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 647 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722795 | A | AGAGGAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 443 | 0.0023 | 15 | c.-66 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 638 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722798 | A | AGAGGAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 NA18979.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 443 | 0.0068 | 15 | c.-66 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 635 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722801 | A | AGAGGAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
2 | 443 | 0.0045 | 15 | c.-66 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 632 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722804 | A | AGAGGAAG others(8): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 NA18975.hp2 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 443 | 0.0090 | 15 | c.-66 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 629 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722807 | A | AGAGGAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 443 | 0.0023 | 15 | c.-65 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 626 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722813 | A | AGAGGAAG others(8): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 443 | 0.0023 | 15 | c.-65 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 620 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722816 | A | AGAGGAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 443 | 0.0023 | 15 | c.-64 others(24): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 617 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29731227 | G | GGATGGAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01975.hp2 HG02040.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0006 |
11 | 443 | 0.0248 | 15 | c.*40 others(26): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 3932 | chr6 | TogoVar | |||||||
HLA-G_chr6_29822825_29836021 | 29823494 | A | AAAATTAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(92): Show |
a0001a0002a0006others(4): Show | a0001c0010a0002c0002a0002c0007others(5): Show | a0001c0010t0001a0002c0002t0001a0002c0007t0001others(5): Show | a0001c0010t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0006 others(7): Show |
95 | 479 | 0.1983 | 15 | c.-43 others(26): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 4330 | chr6 | TogoVar | |||||||
HLA-G_chr6_29822825_29836021 | 29831449 | T | TTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01884.hp2 others(27): Show |
a0001a0004a0005 | a0001c0003a0001c0004a0004c0006others(1): Show | a0001c0003t0002a0001c0004t0004a0004c0006t0002others(1): Show | a0001c0003t0002g0002 a0001c0004t0004g0004 a0004c0006t0002g0002 others(2): Show |
30 | 479 | 0.0626 | 15 | c.*71 others(24): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 429 | chr6 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36793295 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0075 | 1 | 258 | 0.0039 | 15 | c.189 others(36): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36888432 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0211 | 1 | 258 | 0.0039 | 15 | c.189 others(34): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLTF_chr3_149025127_149091533 | 149089570 | G | GCGCGCGC others(8): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 404 | 0.0025 | 15 | c.-32 others(26): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 3038 | chr3 | TogoVar | |||||||
HLX_chr1_220874443_220890059 | 220880258 | A | AGCAGCAA others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(12): Show |
a0004 | a0004c0005a0004c0008 | a0004c0005t0006a0004c0008t0006 | a0004c0005t0006g0006 a0004c0005t0006g0116 a0004c0008t0006g0006 |
15 | 438 | 0.0343 | 15 | c.413 others(22): Show |
p.Pro others(28): Show |
HLX | ENSG00000136630.13 | transcript | ENST00000366903.8 | protein_coding | 1/4 | 829/2237 | 414/1467 | 138/488 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
HMBOX1_chr8_28885395_29058262 | 28900269 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02451.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0317 |
3 | 344 | 0.0087 | 15 | c.-58 others(32): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
HMBOX1_chr8_28885395_29058262 | 28973803 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0039 others(1): Show |
4 | 344 | 0.0116 | 15 | c.500 others(32): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 185819237 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0023 | a0023c0014 | a0023c0014t0001 | a0023c0014t0001g0055 | 1 | 92 | 0.0109 | 15 | c.269 others(34): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 185924215 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0005 | 1 | 92 | 0.0109 | 15 | c.128 others(32): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 186110977 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 |
a0004a0035 | a0004c0002a0035c0028 | a0004c0002t0001a0035c0028t0006 | a0004c0002t0001g0072 a0035c0028t0006g0002 |
2 | 92 | 0.0217 | 15 | c.109 others(36): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130277955 | C | CCACCACC others(8): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0004 | a0004c0194 | a0004c0194t0002 | a0004c0194t0002g0168 | 1 | 258 | 0.0039 | 15 | c.260 others(32): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |