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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUBPL_chr14_31556404_31866224 | 31605802 | CTCTTCCT others(29): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02965.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0014 | a0001c0001t0002g0243a0001c0001t0008g0112a0001c0001t0008g0113others(1): Show | 4 | 268 | 0.0149 | -36 | c.382 others(53): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NUBPL_chr14_31556404_31866224 | 31745338 | GATGGTTT others(29): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0021 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0004others(2): Show | 5 | 268 | 0.0187 | -36 | c.514 others(55): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NUBPL_chr14_31556404_31866224 | 31813603 | GATATACA others(29): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0001 | 1 | 268 | 0.0037 | -36 | c.608 others(55): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NUCB1_chr19_48895312_48928372 | 48922146 | GGGACCCC others(29): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0010 | a0001c0001t0004g0028a0001c0001t0004g0158a0001c0001t0004g0333others(7): Show | 10 | 398 | 0.0251 | -36 | c.128 others(53): Show |
NUCB1 | ENSG00000104805.17 | transcript | ENST00000405315.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NUDCD1_chr8_109235919_109339087 | 109239272 | AGAATCTA others(29): Show |
A | downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 360 | 0.0028 | -36 | c.*37 others(47): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 1646 | chr8 | TogoVar | ||||||
NUDT2_chr9_34324569_34348699 | 34346359 | AATATATA others(29): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 436 | 0.0023 | -36 | c.*29 others(47): Show |
NUDT2 | ENSG00000164978.18 | transcript | ENST00000379158.7 | protein_coding | 2661 | chr9 | TogoVar | ||||||
NUDT2_chr9_34324569_34348699 | 34346384 | ATATATAT others(29): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02165.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(5): Show | 10 | 436 | 0.0229 | -36 | c.*29 others(47): Show |
NUDT2 | ENSG00000164978.18 | transcript | ENST00000379158.7 | protein_coding | 2686 | chr9 | TogoVar | ||||||
NUFIP2_chr17_29250839_29299148 | 29278574 | TGCTTGGA others(29): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(259): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0011a0001c0001t0001g0097a0001c0001t0001g0105others(222): Show | 262 | 356 | 0.7360 | -36 | c.200 others(55): Show |
NUFIP2 | ENSG00000108256.9 | transcript | ENST00000225388.9 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73352453 | CACACATA others(29): Show |
C | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 322 | 0.0031 | -36 | c.126 others(53): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73352455 | CACATACA others(29): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG02738.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042a0001c0001t0003g0043a0001c0001t0003g0068 | 3 | 322 | 0.0093 | -36 | c.126 others(53): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73352457 | CATACACA others(29): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066a0001c0001t0003g0067 | 2 | 322 | 0.0062 | -36 | c.126 others(53): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
NUP107_chr12_68681978_68750809 | 68749688 | AATTGAAG others(29): Show |
A | downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 398 | 0.0025 | -36 | c.*72 others(47): Show |
NUP107 | ENSG00000111581.10 | transcript | ENST00000229179.9 | protein_coding | 3880 | chr12 | TogoVar | ||||||
NUP205_chr7_135552917_135653753 | 135567120 | CTATGTGT others(29): Show |
C | intron_variant | MODIFIER | HG00438.hp1 NA18995.hp2 NA19011.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0250a0001c0002t0001g0251a0001c0003t0001g0335 | 3 | 352 | 0.0085 | -36 | c.29- others(51): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP210L_chr1_153987690_154160073 | 154125622 | AAAGGAAG others(29): Show |
A | intron_variant | MODIFIER | HG00733.hp2 NA18979.hp1 NA18981.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0145a0002c0002t0001g0120a0002c0002t0002g0126 | 3 | 290 | 0.0103 | -36 | c.132 others(53): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154125707 | AAGGAAGG others(29): Show |
A | intron_variant | MODIFIER | HG02965.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0073 | 2 | 290 | 0.0069 | -36 | c.132 others(53): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | ||||||
NUP54_chr4_76109664_76153397 | 76125280 | ACAGAAAC others(29): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01192.hp2 HG02109.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006a0002c0002t0003g0039a0002c0002t0003g0040others(1): Show | 6 | 370 | 0.0162 | -36 | c.105 others(53): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3702309 | ACACACTC others(29): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0324a0001c0001t0008g0325 | 2 | 342 | 0.0059 | -36 | c.351 others(53): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
NUTM2E_chr10_79821739_79855878 | 79838415 | ACTTCACT others(29): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02818.hp2 HG02896.hp1 others(2): Show |
a0012a0023 | a0012c0017a0023c0037 | a0012c0017t0014a0023c0037t0026 | a0012c0017t0014g0022a0012c0017t0014g0059a0023c0037t0026g0060 | 5 | 412 | 0.0121 | -36 | c.-26 others(47): Show |
NUTM2E | ENSG00000228570.8 | transcript | ENST00000429984.5 | protein_coding | 2/10 | 3288 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
NXF2B_chrX_102355395_102445008 | 102412477 | AAAGAAGA others(29): Show |
A | intron_variant | MODIFIER | HG00609.hp1 NA18612.hp1 NA18946.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0025others(4): Show | 7 | 54 | 0.1296 | -36 | c.-54 others(55): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2_chrX_102242167_102331722 | 102274532 | CTTCCTCT others(29): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0036 | 1 | 38 | 0.0263 | -36 | c.-54 others(55): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2_chrX_102242167_102331722 | 102274538 | CTTCCTCT others(29): Show |
C | intron_variant | MODIFIER | HG02132.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0028 | 2 | 38 | 0.0526 | -36 | c.-54 others(55): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2_chrX_102242167_102331722 | 102274550 | CCTTCTTC others(29): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 38 | 0.0263 | -36 | c.-54 others(55): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NXNL1_chr19_17450425_17465926 | 17463783 | AAGAAGAA others(29): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 408 | 0.0049 | -36 | c.-29 others(47): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2858 | chr19 | TogoVar | ||||||
NXNL1_chr19_17450425_17465926 | 17463789 | AAGAAGAA others(29): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03486.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012 | 3 | 408 | 0.0074 | -36 | c.-29 others(47): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2864 | chr19 | TogoVar | ||||||
NXNL1_chr19_17450425_17465926 | 17463795 | AAGAAGGA others(29): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -36 | c.-29 others(47): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2870 | chr19 | TogoVar | ||||||
NXN_chr17_794310_984776 | 842982 | GAGAAAGA others(29): Show |
G | intron_variant | MODIFIER | HG02155.hp1 NA18973.hp2 NA18980.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0122a0001c0001t0001g0124others(1): Show | 4 | 242 | 0.0165 | -36 | c.361 others(55): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 842998 | GAGAAAGA others(29): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0158 | 1 | 242 | 0.0041 | -36 | c.361 others(55): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXPE4_chr11_114565591_114600786 | 114576975 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 432 | 0.0023 | -36 | c.109 others(55): Show |
NXPE4 | ENSG00000137634.10 | transcript | ENST00000375478.4 | protein_coding | 5/5 | chr11 | TogoVar | ||||||
NXPE4_chr11_114565591_114600786 | 114577022 | TATATACA others(29): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(169): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0011a0001c0017others(5): Show | a0001c0001t0001a0001c0011t0001a0001c0017t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(63): Show | 172 | 432 | 0.3982 | -36 | c.109 others(55): Show |
NXPE4 | ENSG00000137634.10 | transcript | ENST00000375478.4 | protein_coding | 5/5 | chr11 | TogoVar | ||||||
OAF_chr11_120206032_120235334 | 120221765 | CCACACCC others(29): Show |
C | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 400 | 0.0025 | -36 | c.232 others(53): Show |
OAF | ENSG00000184232.9 | transcript | ENST00000328965.9 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
OC90_chr8_132019216_132064382 | 132028539 | AAAGAAAG others(29): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03139.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070 | 3 | 408 | 0.0074 | -36 | c.113 others(53): Show |
OC90 | ENSG00000253117.5 | transcript | ENST00000254627.4 | protein_coding | 13/13 | chr8 | TogoVar | ||||||
OC90_chr8_132019216_132064382 | 132028543 | AAAGAAAG others(29): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02055.hp2 HG02145.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0213others(12): Show | 21 | 408 | 0.0515 | -36 | c.113 others(53): Show |
OC90 | ENSG00000253117.5 | transcript | ENST00000254627.4 | protein_coding | 13/13 | chr8 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27913892 | AAAGCAAG others(29): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG02818.hp1 HG03195.hp1 others(1): Show |
a0001a0006a0016 | a0001c0008a0006c0025a0016c0041 | a0001c0008t0001a0006c0025t0001a0016c0041t0001 | a0001c0008t0001g0031a0001c0008t0001g0037a0006c0025t0001g0067others(1): Show | 4 | 110 | 0.0364 | -36 | c.207 others(57): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 19/23 | chr15 | TogoVar | ||||||
ODAD1_chr19_48291462_48326971 | 48305909 | ATTAGCCA others(29): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 398 | 0.0025 | -36 | c.665 others(51): Show |
ODAD1 | ENSG00000105479.16 | transcript | ENST00000674294.1 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128466998 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 346 | 0.0029 | -36 | c.499 others(53): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ODF2_chr9_128451006_128506292 | 128467000 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181a0001c0001t0003g0182a0001c0001t0003g0183 | 3 | 346 | 0.0087 | -36 | c.499 others(53): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ODF2_chr9_128451006_128506292 | 128467002 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 346 | 0.0029 | -36 | c.499 others(53): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLA1_chr2_174067447_174253532 | 174163741 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02965.hp1 NA21309.hp1 |
a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0006a0002c0002t0017g0007 | 2 | 262 | 0.0076 | -36 | c.374 others(55): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174250123 | TTTTTGAG others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 262 | 0.0038 | -36 | c.-17 others(47): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 1592 | chr2 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135124499 | GGAAGGAA others(29): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG02040.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0053a0001c0001t0001g0064a0001c0001t0001g0094others(23): Show | 26 | 360 | 0.0722 | -36 | c.*43 others(47): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3320 | chr9 | TogoVar | ||||||
OOSP2_chr11_60035409_60053044 | 60048666 | TTTTTTTT others(29): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp1 NA18906.hp2 NA20300.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0081 | 4 | 198 | 0.0202 | -36 | c.*15 others(47): Show |
OOSP2 | ENSG00000149507.7 | transcript | ENST00000278855.7 | protein_coding | 623 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133031366 | AGTAGGTG others(29): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(2): Show | a0001c0001t0003g0044a0001c0001t0006g0037a0001c0001t0012g0068others(2): Show | 5 | 68 | 0.0735 | -36 | c.62- others(53): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68317505 | GGGAAAGA others(29): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0003 | 1 | 155 | 0.0065 | -36 | c.155 others(55): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68416049 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 155 | 0.0065 | -36 | c.154 others(55): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68416051 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 155 | 0.0065 | -36 | c.154 others(55): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68416053 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 155 | 0.0065 | -36 | c.154 others(55): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPN5_chr6_47777032_47831381 | 47831133 | CTCTTTCT others(29): Show |
C | downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 322 | 0.0031 | -36 | c.*71 others(47): Show |
OPN5 | ENSG00000124818.16 | transcript | ENST00000371211.7 | protein_coding | 4753 | chr6 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64094388 | TGGGTCAG others(29): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 66 | 0.0152 | -36 | c.233 others(53): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OPTN_chr10_13095163_13143308 | 13114963 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(249): Show | 262 | 418 | 0.6268 | -36 | c.553 others(53): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
OR10G4_chr11_124007997_124023732 | 124022773 | CAGAGAGA others(29): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp1 | a0017 | a0017c0021 | a0017c0021t0027 | a0017c0021t0027g0036 | 1 | 438 | 0.0023 | -36 | c.*62 others(47): Show |
OR10G4 | ENSG00000254737.3 | transcript | ENST00000641722.1 | protein_coding | 4042 | chr11 | TogoVar |