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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NCOA6_chr20_34709774_34830651 | 34817143 | AAGCAAAA others(62): Show |
A | intron_variant | MODIFIER | HG03239.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0118 | 2 | 290 | 0.0069 | -69 | c.-16 others(88): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
NDST3_chr4_118029486_118263634 | 118066549 | TATAATAT others(62): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0210 | 1 | 216 | 0.0046 | -69 | c.981 others(88): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NDST3_chr4_118029486_118263634 | 118066709 | TATAACAT others(62): Show |
T | intron_variant | MODIFIER | HG02004.hp2 HG02148.hp1 HG04184.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0002 | a0001c0001t0015g0049a0001c0003t0002g0019a0001c0003t0002g0020others(2): Show | 5 | 216 | 0.0232 | -69 | c.981 others(88): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NDST3_chr4_118029486_118263634 | 118066741 | TATAACAT others(62): Show |
T | intron_variant | MODIFIER | HG01192.hp1 NA18960.hp1 NA18972.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0005a0001c0001t0001g0045a0001c0001t0001g0046others(3): Show | 6 | 216 | 0.0278 | -69 | c.981 others(88): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NDUFAF7_chr2_37226658_37254160 | 37249574 | CACACACA others(62): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0034 | 2 | 432 | 0.0046 | -69 | c.*12 others(80): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 415 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241806988 | ACCCTCCC others(62): Show |
A | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 319 | 0.0031 | -69 | c.-22 others(80): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2204 | chr2 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79511715 | TGGGGAGC others(62): Show |
T | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0155 | 1 | 322 | 0.0031 | -69 | c.278 others(90): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3444108 | CAAAGAGG others(62): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0143a0002c0003t0196a0002c0003t0197others(3): Show | a0001c0001t0143g0032a0002c0003t0196g0292a0002c0003t0197g0274others(3): Show | 6 | 300 | 0.0200 | -69 | c.959 others(86): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656447 | AAGCCCAC others(62): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00738.hp2 HG01069.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0003g0016others(19): Show | 22 | 366 | 0.0601 | -69 | c.-16 others(90): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NGB_chr14_77260483_77276206 | 77269727 | TTCTCTCT others(62): Show |
T | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 366 | 0.0027 | -69 | c.90- others(82): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17484630 | GGGCTCTG others(62): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp1 others(107): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0029others(107): Show | 110 | 164 | 0.6707 | -69 | c.565 others(90): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NLRP8_chr19_55942832_55993629 | 55993488 | TCTCCCCC others(62): Show |
T | downstream_gene_variant | MODIFIER | HG01071.hp2 | a0000 | a0000c0001 | a0000c0001t0007 | a0000c0001t0007g0043 | 1 | 350 | 0.0029 | -69 | c.*55 others(80): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4860 | chr19 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848176 | AGAAGAAG others(62): Show |
A | upstream_gene_variant | MODIFIER | HG03710.hp2 NA18944.hp2 |
a0001a0004 | a0001c0004a0004c0005 | a0001c0004t0001a0004c0005t0003 | a0001c0004t0001g0105a0004c0005t0003g0009 | 2 | 388 | 0.0052 | -69 | c.-79 others(78): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 420 | chr7 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2960889 | TTATTATA others(62): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(228): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0024a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(155): Show | 231 | 422 | 0.5474 | -69 | c.195 others(86): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
NOX3_chr6_155390368_155460839 | 155445869 | CATATATA others(62): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0317 | 1 | 362 | 0.0028 | -69 | c.341 others(86): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 4/13 | chr6 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977713 | ACACGCTG others(62): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 208 | 0.0048 | -69 | c.279 others(84): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
NPIPA1_chr16_14932443_14957056 | 14938244 | CCTCTTTT others(62): Show |
C | intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 253 | 0.0040 | -69 | c.63+ others(82): Show |
NPIPA1 | ENSG00000183426.17 | transcript | ENST00000328085.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPA1_chr16_14932443_14957056 | 14951874 | CGGATGAT others(62): Show |
C | conservative_inframe_deletion | MODERATE | HG02129.hp1 NA18747.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0001 | 2 | 253 | 0.0079 | -69 | c.934 others(77): Show |
p.Leu others(13): Show |
NPIPA1 | ENSG00000183426.17 | transcript | ENST00000328085.10 | protein_coding | 8/8 | 934/1084 | 934/1053 | 312/350 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPA5_chr16_15358628_15383294 | 15363750 | GGAGCTGA others(62): Show |
G | disruptive_inframe_deletion | MODERATE | HG02922.hp1 | a0018 | a0018c0021 | a0018c0021t0001 | a0018c0021t0001g0099 | 1 | 430 | 0.0023 | -69 | c.893 others(76): Show |
p.Leu others(13): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 961/1084 | 893/1053 | 298/350 | chr16 | TogoVar | ||
NPIPA5_chr16_15358628_15383294 | 15363787 | CAGGTGTC others(62): Show |
C | conservative_inframe_deletion | MODERATE | HG03927.hp1 | a0015 | a0015c0026 | a0015c0026t0001 | a0015c0026t0001g0152 | 1 | 430 | 0.0023 | -69 | c.856 others(76): Show |
p.Pro others(13): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 924/1084 | 856/1053 | 286/350 | chr16 | TogoVar | ||
NPIPA7_chr16_16374140_16398972 | 16393637 | CACCCTCA others(62): Show |
C | conservative_inframe_deletion | MODERATE | HG00597.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0026 | 1 | 132 | 0.0076 | -69 | c.856 others(76): Show |
p.Pro others(13): Show |
NPIPA7 | ENSG00000214967.6 | transcript | ENST00000530217.3 | protein_coding | 8/8 | 961/1264 | 856/1110 | 286/369 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPA7_chr16_16374140_16398972 | 16393760 | TTCCACCC others(62): Show |
T | disruptive_inframe_deletion | MODERATE | HG00733.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0033 | 1 | 132 | 0.0076 | -69 | c.984 others(77): Show |
p.Glu others(13): Show |
NPIPA7 | ENSG00000214967.6 | transcript | ENST00000530217.3 | protein_coding | 8/8 | 1089/1264 | 984/1110 | 328/369 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NRF1_chr7_129606720_129762076 | 129628030 | GGTTCTTT others(62): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 384 | 0.0026 | -69 | c.-7+ others(86): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NTN5_chr19_48656407_48678017 | 48669198 | CCATCACC others(62): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 412 | 0.0024 | -69 | c.631 others(86): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154125619 | CTGAAAGG others(62): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 290 | 0.0035 | -69 | c.132 others(86): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | ||||||
ONECUT2_chr18_57430374_57496298 | 57493938 | CCACCTCT others(62): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 400 | 0.0025 | -69 | c.*17 others(82): Show |
ONECUT2 | ENSG00000119547.6 | transcript | ENST00000491143.3 | protein_coding | 2641 | chr18 | TogoVar | ||||||
OOEP_chr6_73363555_73374897 | 73363661 | GGGAGGCC others(62): Show |
G | downstream_gene_variant | MODIFIER | NA18993.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 428 | 0.0047 | -69 | c.*50 others(80): Show |
OOEP | ENSG00000203907.10 | transcript | ENST00000370359.6 | protein_coding | 4893 | chr6 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133261434 | TCTGCTCA others(62): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0051 | 1 | 68 | 0.0147 | -69 | c.61+ others(88): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OR1F1_chr16_3183204_3211556 | 3197602 | GCCACCTG others(62): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01070.hp1 others(13): Show |
a0002a0006a0007 | a0002c0002a0006c0006a0007c0008 | a0002c0002t0001a0002c0002t0024a0006c0006t0011others(1): Show | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0038others(12): Show | 16 | 328 | 0.0488 | -69 | c.-13 others(86): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
OR7C1_chr19_14793515_14840185 | 14809508 | TAGATTGA others(62): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 408 | 0.0025 | -69 | c.-43 others(86): Show |
OR7C1 | ENSG00000127530.4 | transcript | ENST00000641666.2 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75128512 | TATATATA others(62): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01123.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0004g0172a0001c0001t0005g0276a0001c0001t0005g0279others(30): Show | 33 | 366 | 0.0902 | -69 | c.132 others(84): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OTUD7A_chr15_31470398_31875673 | 31510788 | TATGTATA others(62): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0122 | 1 | 244 | 0.0041 | -69 | c.894 others(86): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
OVGP1_chr1_111409319_111432735 | 111414879 | CTCACAGA others(62): Show |
C | disruptive_inframe_deletion | MODERATE | NA18964.hp1 | a0027 | a0027c0029 | a0027c0029t0001 | a0027c0029t0001g0085 | 1 | 424 | 0.0024 | -69 | c.155 others(78): Show |
p.Thr others(13): Show |
OVGP1 | ENSG00000085465.13 | transcript | ENST00000369732.4 | protein_coding | 11/11 | 1635/2196 | 1553/2037 | 518/678 | chr1 | TogoVar | ||
OVGP1_chr1_111409319_111432735 | 111414892 | GACTCACA others(62): Show |
G | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG00621.hp2 HG00639.hp2 others(67): Show |
a0003a0007a0034 | a0003c0003a0003c0007a0003c0017others(3): Show | a0003c0003t0001a0003c0007t0001a0003c0017t0001others(3): Show | a0003c0003t0001g0004a0003c0003t0001g0005a0003c0003t0001g0018others(12): Show | 70 | 424 | 0.1651 | -69 | c.154 others(78): Show |
p.Tyr others(13): Show |
OVGP1 | ENSG00000085465.13 | transcript | ENST00000369732.4 | protein_coding | 11/11 | 1622/2196 | 1540/2037 | 514/678 | chr1 | TogoVar | ||
P2RX5_chr17_3668227_3701155 | 3685809 | ACACAGCG others(62): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01884.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0001g0143a0002c0002t0001g0021a0002c0002t0004g0025others(1): Show | 4 | 362 | 0.0111 | -69 | c.981 others(86): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189966083 | GAAGAAAG others(62): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0247 | 1 | 304 | 0.0033 | -69 | c.189 others(88): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168575352 | TTACATGG others(62): Show |
T | intron_variant | MODIFIER | NA18964.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0055a0001c0001t0002g0146 | 2 | 156 | 0.0128 | -69 | c.908 others(88): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PAMR1_chr11_35426827_35530616 | 35461996 | CTTTAACA others(62): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02886.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0009a0002c0002t0003g0074a0002c0002t0003g0114others(1): Show | 4 | 378 | 0.0106 | -69 | c.820 others(86): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 6/10 | chr11 | TogoVar | ||||||
PARP12_chr7_140018749_140067951 | 140035987 | GAGGAGGA others(62): Show |
G | intron_variant | MODIFIER | HG02080.hp2 HG02165.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0190a0001c0002t0001g0212a0001c0002t0001g0243others(3): Show | 7 | 360 | 0.0194 | -69 | c.132 others(88): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62133151 | TTATTTAG others(62): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0009 | a0009c0054 | a0009c0054t0004 | a0009c0054t0004g0127 | 1 | 158 | 0.0063 | -69 | c.527 others(88): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAXBP1_chr21_32728899_32776755 | 32771903 | AGAGAGAG others(62): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | -69 | c.-30 others(78): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 149 | chr21 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135935034 | TTCTCTAT others(62): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0006 | a0001c0001t0001g0025a0001c0001t0005g0020a0001c0003t0006g0021 | 3 | 142 | 0.0211 | -69 | c.22- others(86): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDIA2_chr16_278164_292215 | 285848 | GGCGGTTC others(62): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 436 | 0.0046 | -69 | c.111 others(86): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43766261 | TGTGGATG others(62): Show |
T | downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 358 | 0.0028 | -69 | c.*10 others(82): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 3963 | chr21 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402291 | ATATATAT others(62): Show |
A | intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0162 | 1 | 206 | 0.0049 | -69 | c.844 others(90): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230394852 | TCCCTCCT others(62): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02015.hp1 HG02056.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0045others(4): Show | a0001c0001t0004g0139a0001c0001t0004g0145a0001c0001t0004g0146others(11): Show | 14 | 288 | 0.0486 | -69 | c.331 others(88): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PHF10_chr6_169698902_169729500 | 169711994 | ATATTTTC others(62): Show |
A | intron_variant | MODIFIER | NA19012.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0124 | 1 | 394 | 0.0025 | -69 | c.957 others(84): Show |
PHF10 | ENSG00000130024.15 | transcript | ENST00000339209.9 | protein_coding | 8/11 | chr6 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11123791 | ATGAGCAG others(62): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198a0001c0001t0001g0199 | 2 | 298 | 0.0067 | -69 | c.277 others(90): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF21B_chr22_44876162_45015005 | 44883979 | TACCACCA others(62): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01258.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0210a0001c0001t0003g0038a0001c0001t0007g0288others(1): Show | 4 | 300 | 0.0133 | -69 | c.137 others(86): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62808281 | GATTCAAG others(62): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02886.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076a0001c0001t0003g0077a0001c0001t0003g0078others(3): Show | 6 | 192 | 0.0313 | -69 | c.157 others(90): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |