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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HLA-F_chr6_29718434_29732296 | 29731232 | C | CATAGATA others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(11): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0003c0003t0001a0004c0005t0001 | a0001c0001t0001g0010a0003c0003t0001g0008a0004c0005t0001g0011 | 14 | 443 | 0.0316 | 8 | c.*40 others(19): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 3937 | chr6 | TogoVar | ||||||
HLA-G_chr6_29822825_29836021 | 29831449 | T | TTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0007a0001c0003t0002a0001c0011t0002others(2): Show | a0001c0001t0007g0009a0001c0003t0002g0002a0001c0011t0002g0014others(2): Show | 8 | 479 | 0.0167 | 8 | c.*71 others(17): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 429 | chr6 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36771219 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02486.hp2 HG02572.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0002 | a0001c0001t0002a0001c0001t0013a0001c0001t0030others(6): Show | a0001c0001t0002g0193a0001c0001t0013g0223a0001c0001t0030g0048others(7): Show | 10 | 258 | 0.0388 | 8 | c.189 others(27): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36823610 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG02257.hp1 others(1): Show |
a0001a0002a0007 | a0001c0007a0002c0002a0007c0014 | a0001c0007t0007a0001c0007t0012a0002c0002t0064others(1): Show | a0001c0007t0007g0200a0001c0007t0012g0207a0002c0002t0064g0243others(1): Show | 4 | 258 | 0.0155 | 8 | c.189 others(29): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36828366 | G | GGAATGAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02647.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0179a0001c0001t0003g0175a0001c0001t0003g0184others(10): Show | 13 | 258 | 0.0504 | 8 | c.189 others(29): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36838298 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02080.hp1 HG02129.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0010a0001c0001t0001g0027a0001c0001t0002g0232others(24): Show | 27 | 258 | 0.1047 | 8 | c.189 others(29): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36868274 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02896.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0018a0001c0001t0051a0001c0013t0022 | a0001c0001t0018g0176a0001c0001t0051g0168a0001c0013t0022g0177 | 3 | 258 | 0.0116 | 8 | c.189 others(29): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | ||||||
HLCS_chr21_36743626_36971669 | 36961956 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01175.hp1 others(5): Show |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0122a0001c0001t0004g0138a0001c0001t0006g0125others(5): Show | 8 | 258 | 0.0310 | 8 | c.330 others(21): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 2/10 | chr21 | TogoVar | ||||||
HLF_chr17_55259960_55330187 | 55306537 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01074.hp2 HG01243.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0058a0001c0001t0001g0131others(33): Show | 36 | 408 | 0.0882 | 8 | c.452 others(25): Show |
HLF | ENSG00000108924.14 | transcript | ENST00000226067.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HLF_chr17_55259960_55330187 | 55313359 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01943.hp1 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0202a0001c0001t0004g0215a0001c0001t0004g0377others(3): Show | 6 | 408 | 0.0147 | 8 | c.452 others(25): Show |
HLF | ENSG00000108924.14 | transcript | ENST00000226067.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HLF_chr17_55259960_55330187 | 55324790 | A | AGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0041 | a0001c0001t0014g0036a0001c0001t0014g0205a0001c0001t0014g0390others(1): Show | 4 | 408 | 0.0098 | 8 | c.*39 others(19): Show |
HLF | ENSG00000108924.14 | transcript | ENST00000226067.10 | protein_coding | 4/4 | 3931 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
HLTF_chr3_149025127_149091533 | 149035678 | A | AGGGGGTT others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01175.hp1 others(10): Show |
a0001a0011 | a0001c0002a0001c0007a0011c0016 | a0001c0002t0003a0001c0002t0004a0001c0007t0003others(1): Show | a0001c0002t0003g0006a0001c0002t0003g0013a0001c0002t0003g0059others(9): Show | 13 | 404 | 0.0322 | 8 | c.279 others(25): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 23/24 | chr3 | TogoVar | ||||||
HLTF_chr3_149025127_149091533 | 149088734 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0015a0001c0005t0002g0137a0001c0005t0002g0139others(2): Show | 6 | 404 | 0.0149 | 8 | c.-23 others(19): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 2202 | chr3 | TogoVar | ||||||
HLTF_chr3_149025127_149091533 | 149089570 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG01358.hp2 HG03239.hp1 |
a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0031a0006c0009t0002g0033a0006c0009t0002g0034 | 3 | 404 | 0.0074 | 8 | c.-32 others(19): Show |
HLTF | ENSG00000071794.16 | transcript | ENST00000310053.10 | protein_coding | 3038 | chr3 | TogoVar | ||||||
HLX_chr1_220874443_220890059 | 220881763 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02165.hp1 HG03471.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0007 | a0001c0001t0001g0067a0001c0001t0002g0013a0001c0001t0002g0051others(2): Show | 12 | 438 | 0.0274 | 8 | c.773 others(23): Show |
HLX | ENSG00000136630.13 | transcript | ENST00000366903.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HM13_chr20_31509442_31574543 | 31513621 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG01256.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0038a0001c0001t0002g0050others(3): Show | 6 | 202 | 0.0297 | 8 | c.-93 others(17): Show |
HM13 | ENSG00000101294.19 | transcript | ENST00000398174.9 | protein_coding | 820 | chr20 | TogoVar | ||||||
HM13_chr20_31509442_31574543 | 31518866 | T | TATAGAGA others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025a0001c0001t0004g0026 | 2 | 202 | 0.0099 | 8 | c.183 others(25): Show |
HM13 | ENSG00000101294.19 | transcript | ENST00000398174.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HMBOX1_chr8_28885395_29058262 | 29003555 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02717.hp1 NA18986.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0316a0001c0001t0003g0070a0001c0001t0003g0071others(5): Show | 8 | 344 | 0.0233 | 8 | c.587 others(25): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HMBS_chr11_119079881_119098549 | 119085172 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01175.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0002t0002a0001c0006t0002 | a0001c0001t0002g0027a0001c0001t0002g0063a0001c0001t0002g0064others(18): Show | 23 | 444 | 0.0518 | 8 | c.33+ others(21): Show |
HMBS | ENSG00000256269.11 | transcript | ENST00000652429.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HMCES_chr3_129273870_129311186 | 129301030 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01255.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0013a0001c0001t0002g0055a0001c0001t0002g0057others(2): Show | 8 | 340 | 0.0235 | 8 | c.636 others(23): Show |
HMCES | ENSG00000183624.14 | transcript | ENST00000383463.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 185776442 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(2): Show |
a0001a0026 | a0001c0001a0001c0027a0026c0040 | a0001c0001t0001a0001c0001t0002a0001c0027t0002others(1): Show | a0001c0001t0001g0091a0001c0001t0002g0089a0001c0001t0002g0090others(2): Show | 5 | 92 | 0.0544 | 8 | c.268 others(27): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 185794343 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
a0001a0026 | a0001c0001a0001c0027a0026c0040 | a0001c0001t0001a0001c0001t0002a0001c0027t0002others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | 92 | 0.0652 | 8 | c.269 others(27): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 185902405 | C | CTATCTCT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 HG03041.hp2 others(1): Show |
a0004a0020a0041 | a0004c0002a0020c0055a0041c0028 | a0004c0002t0001a0020c0055t0001a0041c0028t0006 | a0004c0002t0001g0014a0004c0002t0001g0017a0020c0055t0001g0013others(1): Show | 4 | 92 | 0.0435 | 8 | c.622 others(25): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 185930907 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG03225.hp1 |
a0008 | a0008c0009 | a0008c0009t0001a0008c0009t0002 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | 92 | 0.0217 | 8 | c.155 others(27): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 186000559 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
a0004a0017a0019others(1): Show | a0004c0002a0017c0054a0019c0056others(1): Show | a0004c0002t0001a0017c0054t0003a0019c0056t0001others(1): Show | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | 92 | 0.0978 | 8 | c.406 others(25): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 186020237 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(33): Show |
a0001a0002a0004others(16): Show | a0001c0001a0001c0035a0002c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0035t0001others(20): Show | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0078others(33): Show | 36 | 92 | 0.3913 | 8 | c.562 others(25): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 186057031 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
a0004a0017a0020others(1): Show | a0004c0002a0017c0054a0020c0055others(1): Show | a0004c0002t0001a0017c0054t0003a0020c0055t0001others(1): Show | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | 92 | 0.0978 | 8 | c.714 others(25): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 186063066 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02922.hp1 |
a0002a0037 | a0002c0004a0037c0038 | a0002c0004t0001a0037c0038t0001 | a0002c0004t0001g0030a0037c0038t0001g0038 | 2 | 92 | 0.0217 | 8 | c.751 others(25): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 186063067 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01243.hp2 others(11): Show |
a0001a0002a0032others(3): Show | a0001c0001a0001c0027a0001c0035others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0027t0002others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0087others(11): Show | 14 | 92 | 0.1522 | 8 | c.751 others(25): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 186164240 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(10): Show |
a0004a0005a0008others(2): Show | a0004c0002a0005c0005a0008c0009others(2): Show | a0004c0002t0001a0005c0005t0003a0008c0009t0001others(3): Show | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | 92 | 0.1413 | 8 | c.152 others(27): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 186186992 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03942.hp1 |
a0042a0046 | a0042c0037a0046c0042 | a0042c0037t0001a0046c0042t0001 | a0042c0037t0001g0034a0046c0042t0001g0043 | 2 | 92 | 0.0217 | 8 | c.164 others(27): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN1_chr1_185729391_186195949 | 186186994 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02055.hp1 others(7): Show |
a0001a0005a0007others(2): Show | a0001c0001a0005c0005a0007c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0005c0005t0003others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0078a0001c0001t0001g0087others(7): Show | 10 | 92 | 0.1087 | 8 | c.164 others(27): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130275854 | T | TTGGAGGC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(214): Show |
a0001a0002a0003others(153): Show | a0001c0001a0001c0013a0001c0017others(183): Show | a0001c0001t0001a0001c0013t0001a0001c0017t0002others(184): Show | a0001c0001t0001g0018a0001c0001t0001g0043a0001c0001t0001g0063others(214): Show | 217 | 258 | 0.8411 | 8 | c.260 others(25): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130292956 | C | CTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01943.hp1 HG01952.hp1 others(3): Show |
a0015a0040a0042others(3): Show | a0015c0008a0040c0033a0042c0036others(3): Show | a0015c0008t0001a0040c0033t0001a0042c0036t0001others(3): Show | a0015c0008t0001g0073a0040c0033t0001g0014a0042c0036t0001g0087others(3): Show | 6 | 258 | 0.0233 | 8 | c.613 others(25): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 4/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130292977 | T | TCTATCTA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(23): Show |
a0002a0008a0009others(17): Show | a0002c0005a0002c0171a0002c0194others(22): Show | a0002c0005t0002a0002c0171t0002a0002c0194t0002others(22): Show | a0002c0005t0002g0193a0002c0171t0002g0189a0002c0194t0002g0168others(23): Show | 26 | 258 | 0.1008 | 8 | c.613 others(25): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 4/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130312505 | G | GTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18984.hp1 NA18984.hp2 others(2): Show |
a0007a0008a0035others(2): Show | a0007c0002a0008c0038a0035c0118others(2): Show | a0007c0002t0001a0008c0038t0001a0035c0118t0001others(2): Show | a0007c0002t0001g0144a0008c0038t0001g0117a0035c0118t0001g0060others(2): Show | 5 | 258 | 0.0194 | 8 | c.235 others(27): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130312539 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02622.hp1 NA18983.hp2 |
a0003a0049a0180 | a0003c0003a0049c0101a0180c0213 | a0003c0003t0001a0049c0101t0001a0180c0213t0002 | a0003c0003t0001g0128a0049c0101t0001g0056a0180c0213t0002g0228 | 3 | 258 | 0.0116 | 8 | c.235 others(27): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130315239 | C | CCCTCCCC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(32): Show |
a0007a0008a0012others(23): Show | a0007c0002a0008c0007a0008c0038others(27): Show | a0007c0002t0001a0008c0007t0001a0008c0038t0001others(27): Show | a0007c0002t0001g0067a0007c0002t0001g0120a0007c0002t0001g0140others(32): Show | 35 | 258 | 0.1357 | 8 | c.235 others(27): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130330968 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01074.hp1 HG01175.hp1 others(28): Show |
a0001a0003a0004others(22): Show | a0001c0001a0001c0096a0003c0072others(24): Show | a0001c0001t0001a0001c0096t0001a0003c0072t0001others(24): Show | a0001c0001t0001g0043a0001c0001t0001g0063a0001c0001t0001g0064others(28): Show | 31 | 258 | 0.1202 | 8 | c.335 others(27): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 22/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130342012 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(99): Show |
a0001a0002a0003others(70): Show | a0001c0001a0001c0013a0001c0083others(88): Show | a0001c0001t0001a0001c0013t0001a0001c0083t0002others(88): Show | a0001c0001t0001g0018a0001c0001t0001g0111a0001c0013t0001g0152others(99): Show | 102 | 258 | 0.3954 | 8 | c.374 others(25): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 24/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130342056 | T | TAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 HG03486.hp1 |
a0039a0054a0096 | a0039c0112a0054c0104a0096c0091 | a0039c0112t0001a0054c0104t0001a0096c0091t0001 | a0039c0112t0001g0070a0054c0104t0001g0051a0096c0091t0001g0008 | 3 | 258 | 0.0116 | 8 | c.374 others(25): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 24/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130357059 | A | AGGATGGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01884.hp2 others(6): Show |
a0023a0140a0141others(6): Show | a0023c0126a0140c0154a0141c0162others(6): Show | a0023c0126t0001a0140c0154t0002a0141c0162t0002others(6): Show | a0023c0126t0001g0098a0140c0154t0002g0184a0141c0162t0002g0001others(6): Show | 9 | 258 | 0.0349 | 8 | c.542 others(25): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 34/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130373707 | A | AGATGGAT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02055.hp2 HG02451.hp2 others(7): Show |
a0003a0028a0050others(6): Show | a0003c0051a0028c0135a0028c0141others(7): Show | a0003c0051t0001a0028c0135t0002a0028c0141t0002others(7): Show | a0003c0051t0001g0088a0028c0135t0002g0239a0028c0141t0002g0230others(7): Show | 10 | 258 | 0.0388 | 8 | c.743 others(25): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 48/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HMCN2_chr9_130260760_130439123 | 130435676 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02080.hp2 HG02145.hp1 others(19): Show |
a0008a0009a0022others(18): Show | a0008c0038a0009c0198a0022c0018others(18): Show | a0008c0038t0001a0009c0198t0002a0022c0018t0001others(18): Show | a0008c0038t0001g0117a0009c0198t0002g0194a0022c0018t0001g0023others(19): Show | 22 | 258 | 0.0853 | 8 | c.*19 others(19): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1554 | chr9 | TogoVar | ||||||
HMG20B_chr19_3567944_3584083 | 3569298 | G | GTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(136): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0001a0001c0001t0001a0001c0001t0003others(2): Show | a0000c0002t0001g0001a0000c0002t0001g0014a0001c0001t0001g0001others(34): Show | 139 | 406 | 0.3424 | 8 | c.-37 others(19): Show |
HMG20B | ENSG00000064961.19 | transcript | ENST00000333651.11 | protein_coding | 3645 | chr19 | TogoVar | ||||||
HMGA2_chr12_65819483_65971291 | 65824713 | T | TTCTCTCT others(1): Show |
5_prime_UTR_variant | MODIFIER | NA18943.hp1 NA18971.hp1 NA18978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0041a0001c0001t0091others(1): Show | a0001c0001t0009g0001a0001c0001t0009g0085a0001c0001t0009g0104others(5): Show | 8 | 236 | 0.0339 | 8 | c.-50 others(17): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 1/5 | 501 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
HMGA2_chr12_65819483_65971291 | 65824725 | C | CTCTCTCT others(1): Show |
5_prime_UTR_variant | MODIFIER | HG04204.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0128a0001c0001t0129 | a0001c0001t0128g0189a0001c0001t0129g0196 | 2 | 236 | 0.0085 | 8 | c.-53 others(17): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 1/5 | 538 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
HMGA2_chr12_65819483_65971291 | 65849736 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01192.hp2 HG01496.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0023a0001c0001t0001g0029a0001c0001t0001g0033others(16): Show | 19 | 236 | 0.0805 | 8 | c.249 others(27): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HMGA2_chr12_65819483_65971291 | 65855458 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02165.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0033a0001c0001t0002g0073a0001c0001t0004g0074others(5): Show | 8 | 236 | 0.0339 | 8 | c.249 others(27): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HMGA2_chr12_65819483_65971291 | 65855458 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01243.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0021a0001c0001t0025others(3): Show | a0001c0001t0007g0021a0001c0001t0007g0022a0001c0001t0021g0170others(5): Show | 8 | 236 | 0.0339 | 8 | c.249 others(27): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |