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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OGDH_chr7_44601627_44714066 | 44691981 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(52): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0012 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0001g0011a0001c0001t0005g0163a0001c0002t0001g0024others(52): Show | 55 | 306 | 0.1797 | 7 | c.133 others(26): Show |
OGDH | ENSG00000105953.16 | transcript | ENST00000222673.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
OGDH_chr7_44601627_44714066 | 44706624 | A | ATTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp1 HG01433.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(10): Show | 13 | 306 | 0.0425 | 7 | c.263 others(24): Show |
OGDH | ENSG00000105953.16 | transcript | ENST00000222673.6 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
OGDH_chr7_44601627_44714066 | 44711128 | G | GTGGGGGA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp1 others(24): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0021a0002c0003t0001g0074a0002c0003t0001g0075others(24): Show | 27 | 306 | 0.0882 | 7 | c.*31 others(18): Show |
OGDH | ENSG00000105953.16 | transcript | ENST00000222673.6 | protein_coding | 2063 | chr7 | TogoVar | ||||||
OIP5_chr15_41304273_41337591 | 41336648 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02004.hp1 HG02055.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0012others(13): Show | 18 | 356 | 0.0506 | 7 | c.-40 others(18): Show |
OIP5 | ENSG00000104147.9 | transcript | ENST00000220514.8 | protein_coding | 4058 | chr15 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174114341 | C | CAAAAAAA | intron_variant | MODIFIER | HG02723.hp1 NA18973.hp1 NA18981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0140a0001c0001t0002g0175a0001c0001t0002g0208others(2): Show | 5 | 262 | 0.0191 | 7 | c.728 others(24): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174144949 | A | ATATATAT | intron_variant | MODIFIER | HG02809.hp1 HG03669.hp2 HG03834.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0028 | a0001c0001t0002g0181a0001c0001t0004g0166a0002c0002t0028g0009 | 3 | 262 | 0.0115 | 7 | c.374 others(24): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174219006 | T | TTTTTTTG | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG02055.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0139a0001c0001t0002g0140a0001c0001t0004g0110others(19): Show | 22 | 262 | 0.0840 | 7 | c.373 others(24): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135095530 | A | AAAGAGAG | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01243.hp1 others(39): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0071a0001c0001t0001g0093a0001c0001t0001g0094others(35): Show | 42 | 360 | 0.1167 | 7 | c.301 others(22): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135124640 | A | AAAGAAAG | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02004.hp2 HG02155.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0182a0001c0002t0003g0245a0001c0002t0003g0247 | 3 | 360 | 0.0083 | 7 | c.*44 others(18): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3461 | chr9 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135124656 | G | GAGAGAGA | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02647.hp2 HG03704.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0024a0001c0003t0005 | a0001c0002t0003g0247a0001c0002t0024g0211a0001c0003t0005g0198 | 3 | 360 | 0.0083 | 7 | c.*44 others(18): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3477 | chr9 | TogoVar | ||||||
OLFM2_chr19_9848718_9941515 | 9920741 | C | CAAAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG01934.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0022a0001c0001t0001g0144a0001c0001t0001g0176others(12): Show | 15 | 342 | 0.0439 | 7 | c.63+ others(24): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
OLFM2_chr19_9848718_9941515 | 9938986 | C | CTCTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0054a0001c0001t0001g0144others(26): Show | 29 | 342 | 0.0848 | 7 | c.-26 others(18): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 2472 | chr19 | TogoVar | ||||||
OLFM3_chr1_101797560_102001926 | 101949931 | G | GAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0026others(36): Show | 40 | 306 | 0.1307 | 7 | c.69+ others(24): Show |
OLFM3 | ENSG00000118733.17 | transcript | ENST00000370103.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
OLFML2A_chr9_124772133_124819882 | 124784943 | G | GTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(57): Show |
a0001a0015 | a0001c0001a0001c0010a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0188a0001c0001t0001g0201others(54): Show | 60 | 380 | 0.1579 | 7 | c.91- others(22): Show |
OLFML2A | ENSG00000185585.20 | transcript | ENST00000373580.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLFML2A_chr9_124772133_124819882 | 124807294 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(234): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0024others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0015others(225): Show | 237 | 380 | 0.6237 | 7 | c.116 others(24): Show |
OLFML2A | ENSG00000185585.20 | transcript | ENST00000373580.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OMA1_chr1_58475719_58551726 | 58518196 | A | AGGAGAGG | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027a0001c0001t0003g0030a0001c0001t0003g0034others(1): Show | 4 | 384 | 0.0104 | 7 | c.121 others(26): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
OMG_chr17_31289647_31302239 | 31293178 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG01258.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 27 | 364 | 0.0742 | 7 | c.*18 others(18): Show |
OMG | ENSG00000126861.5 | transcript | ENST00000247271.5 | protein_coding | 1468 | chr17 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52774288 | G | GTTATTAT | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG03195.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0005a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0005g0214a0001c0001t0010g0031a0001c0001t0010g0305others(3): Show | 8 | 412 | 0.0194 | 7 | c.110 others(28): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52777735 | C | CAAAAAAA | intron_variant | MODIFIER | HG02683.hp1 NA18969.hp2 NA18980.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0086others(2): Show | 5 | 412 | 0.0121 | 7 | c.110 others(28): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52777737 | C | CAAAAAAA | intron_variant | MODIFIER | HG02155.hp2 HG02258.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0061 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0156others(3): Show | 6 | 412 | 0.0146 | 7 | c.110 others(28): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52777737 | C | CACAAAAA | intron_variant | MODIFIER | HG01934.hp1 HG02257.hp1 HG02970.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0005g0243others(5): Show | 9 | 412 | 0.0218 | 7 | c.110 others(28): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52777737 | C | CACACACA | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01891.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0291a0001c0001t0013g0029a0001c0001t0013g0290 | 4 | 412 | 0.0097 | 7 | c.110 others(28): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT2_chr18_57430374_57496298 | 57491257 | A | AATTCTGC | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(252): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(84): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(227): Show | 255 | 400 | 0.6375 | 7 | c.*14 others(20): Show |
ONECUT2 | ENSG00000119547.6 | transcript | ENST00000491143.3 | protein_coding | 2/2 | 14543 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
ONECUT2_chr18_57430374_57496298 | 57491263 | G | GCATTCTT | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0039a0001c0001t0040others(7): Show | a0001c0001t0003g0033a0001c0001t0003g0037a0001c0001t0003g0039others(26): Show | 31 | 400 | 0.0775 | 7 | c.*14 others(20): Show |
ONECUT2 | ENSG00000119547.6 | transcript | ENST00000491143.3 | protein_coding | 2/2 | 14543 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
ONECUT3_chr19_1748506_1785988 | 1763366 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01934.hp1 HG02004.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0001t0104a0001c0001t0189others(6): Show | a0001c0001t0012g0020a0001c0001t0104g0056a0001c0001t0189g0125others(6): Show | 9 | 370 | 0.0243 | 7 | c.119 others(26): Show |
ONECUT3 | ENSG00000205922.5 | transcript | ENST00000382349.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ONECUT3_chr19_1748506_1785988 | 1780973 | T | TAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0029a0001c0001t0049a0001c0001t0051others(30): Show | a0001c0001t0029g0007a0001c0001t0049g0013a0001c0001t0051g0016others(30): Show | 34 | 370 | 0.0919 | 7 | c.*55 others(18): Show |
ONECUT3 | ENSG00000205922.5 | transcript | ENST00000382349.5 | protein_coding | 2/2 | 5522 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
ONECUT3_chr19_1748506_1785988 | 1781597 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02486.hp2 HG02738.hp2 others(7): Show |
a0001a0012 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0025a0001c0001t0041others(7): Show | a0001c0001t0001g0032a0001c0001t0025g0037a0001c0001t0041g0141others(7): Show | 10 | 370 | 0.0270 | 7 | c.*61 others(18): Show |
ONECUT3 | ENSG00000205922.5 | transcript | ENST00000382349.5 | protein_coding | 610 | chr19 | TogoVar | ||||||
OOEP_chr6_73363555_73374897 | 73364849 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG02080.hp2 HG02145.hp2 HG02723.hp1 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0004a0003c0003t0001g0003a0003c0003t0001g0006 | 8 | 428 | 0.0187 | 7 | c.*39 others(18): Show |
OOEP | ENSG00000203907.10 | transcript | ENST00000370359.6 | protein_coding | 3705 | chr6 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193604869 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(98): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0107a0001c0001t0002g0105a0001c0001t0002g0106others(98): Show | 101 | 388 | 0.2603 | 7 | c.33- others(22): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPA1_chr3_193588208_193702811 | 193688449 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG03239.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0003a0002c0007t0001 | a0001c0001t0002g0342a0001c0001t0002g0377a0001c0001t0003g0022others(3): Show | 6 | 388 | 0.0155 | 7 | c.298 others(26): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPALIN_chr10_96338221_96364002 | 96358186 | T | TAAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0061a0001c0001t0001g0183others(7): Show | 19 | 402 | 0.0473 | 7 | c.3+7 others(18): Show |
OPALIN | ENSG00000197430.11 | transcript | ENST00000371172.8 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132546814 | C | CGGGTGGA | intron_variant | MODIFIER | HG02809.hp1 HG03516.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0032 | a0001c0001t0001g0013a0001c0001t0013g0041a0001c0001t0032g0065 | 3 | 68 | 0.0441 | 7 | c.380 others(26): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132942891 | A | AGGGGCTC | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0013a0001c0001t0003g0031a0001c0001t0004g0027others(14): Show | 17 | 68 | 0.2500 | 7 | c.146 others(20): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133140667 | A | AAAAGAAG | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0013others(55): Show | 58 | 68 | 0.8529 | 7 | c.62- others(26): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133140714 | C | CGAAGACG | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0002g0019a0001c0001t0006g0045a0001c0001t0007g0029others(5): Show | 8 | 68 | 0.1177 | 7 | c.62- others(26): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133204058 | C | CAAAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0002a0001c0001t0003g0046a0001c0001t0006g0037others(1): Show | 4 | 68 | 0.0588 | 7 | c.62- others(26): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68083054 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | 155 | 0.0258 | 7 | c.168 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68086181 | C | CAAAAAAA | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0003 | 1 | 155 | 0.0065 | 7 | c.168 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68206011 | T | TGTGTGTG | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 155 | 0.0065 | 7 | c.933 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68258413 | A | AACCCCCC | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(59): Show | 62 | 155 | 0.4000 | 7 | c.384 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68317379 | G | GAAAGAAA | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 155 | 0.0065 | 7 | c.155 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68325664 | T | TCTCCCTC | intron_variant | MODIFIER | HG02074.hp1 HG02735.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0010 | a0001c0001t0002g0006a0001c0003t0010g0085 | 2 | 155 | 0.0129 | 7 | c.155 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68370009 | G | GTATATAT | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 155 | 0.0065 | 7 | c.154 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68393885 | G | GTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01258.hp1 HG01261.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0046others(9): Show | 12 | 155 | 0.0774 | 7 | c.154 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68416033 | A | ATATATAT | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 155 | 0.0065 | 7 | c.154 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68426699 | C | CAAAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | 155 | 0.0129 | 7 | c.154 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68436403 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01258.hp1 HG01261.hp1 HG02074.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048a0001c0001t0001g0059a0001c0001t0001g0074others(1): Show | 4 | 155 | 0.0258 | 7 | c.-32 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2909 | chrX | TogoVar | ||||||
OPN1MW2_chrX_154214756_154238286 | 154223824 | A | ACTCACGT | intron_variant | MODIFIER | HG02015.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0042 | 1 | 111 | 0.0090 | 7 | c.113 others(24): Show |
OPN1MW2 | ENSG00000166160.9 | transcript | ENST00000369929.8 | protein_coding | 1/5 | chrX | TogoVar | ||||||
OPN1MW_chrX_154177596_154201861 | 154188318 | G | GGAGCTGT | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 63 | 0.0159 | 7 | c.409 others(22): Show |
OPN1MW | ENSG00000268221.6 | transcript | ENST00000595290.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
OPN1MW_chrX_154177596_154201861 | 154201593 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0007 | a0007c0011 | a0007c0011t0007 | a0007c0011t0007g0048 | 1 | 63 | 0.0159 | 7 | c.*55 others(18): Show |
OPN1MW | ENSG00000268221.6 | transcript | ENST00000595290.6 | protein_coding | 4733 | chrX | TogoVar |