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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUP62CL_chrX_107118427_107211433 | 107204845 | TTTATTTA others(41): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02976.hp2 HG03130.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0003 | a0001c0001t0002g0092a0001c0001t0002g0093a0001c0001t0003g0136others(3): Show | 6 | 280 | 0.0214 | -48 | c.-92 others(65): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
NUP85_chr17_75200679_75240758 | 75212228 | GGTTTTTT others(41): Show |
G | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 276 | 0.0036 | -48 | c.361 others(63): Show |
NUP85 | ENSG00000125450.11 | transcript | ENST00000245544.9 | protein_coding | 4/18 | chr17 | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102412477 | AAAGAAGA others(41): Show |
A | intron_variant | MODIFIER | HG03492.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0032 | 2 | 54 | 0.0370 | -48 | c.-54 others(67): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102412525 | GAAGAAGA others(41): Show |
G | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 54 | 0.0185 | -48 | c.-54 others(67): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXF2_chrX_102242167_102331722 | 102274532 | CTTCCTCT others(41): Show |
C | intron_variant | MODIFIER | HG00280.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0032 | 2 | 38 | 0.0526 | -48 | c.-54 others(67): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXNL1_chr19_17450425_17465926 | 17463789 | AAGAAGAA others(41): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -48 | c.-29 others(59): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2864 | chr19 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27913880 | AAAGAAAG others(41): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01255.hp1 HG01258.hp2 others(1): Show |
a0001a0003 | a0001c0006a0001c0008a0001c0032others(1): Show | a0001c0006t0001a0001c0008t0001a0001c0032t0001others(1): Show | a0001c0006t0001g0058a0001c0008t0001g0049a0001c0032t0001g0063others(1): Show | 4 | 110 | 0.0364 | -48 | c.207 others(69): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 19/23 | chr15 | TogoVar | ||||||
ODAD3_chr19_11415605_11440121 | 11424971 | GTATATAT others(41): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 398 | 0.0025 | -48 | c.964 others(63): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | ||||||
OIP5_chr15_41304273_41337591 | 41329790 | CTACCAGA others(41): Show |
C | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 356 | 0.0028 | -48 | c.389 others(65): Show |
OIP5 | ENSG00000104147.9 | transcript | ENST00000220514.8 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174163703 | AATAAATA others(41): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0023a0002c0002t0028 | a0002c0002t0023g0251a0002c0002t0028g0009 | 2 | 262 | 0.0076 | -48 | c.374 others(67): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174163707 | AATAAATA others(41): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00639.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0002g0183a0001c0001t0012g0052a0001c0001t0013g0050others(7): Show | 10 | 262 | 0.0382 | -48 | c.374 others(67): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174163729 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0001g0045a0001c0001t0001g0059a0001c0001t0001g0061others(49): Show | 52 | 262 | 0.1985 | -48 | c.374 others(67): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135119691 | ACCTGAAG others(41): Show |
A | disruptive_inframe_deletion | MODERATE | NA18941.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0248 | 1 | 360 | 0.0028 | -48 | c.972 others(56): Show |
p.Leu others(13): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 6/6 | 1294/2782 | 972/1458 | 324/485 | chr9 | TogoVar | ||
OPCML_chr11_132409981_133537501 | 132973850 | AAGAAAGC others(41): Show |
A | intron_variant | MODIFIER | HG02258.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0050a0001c0001t0005g0038 | 2 | 68 | 0.0294 | -48 | c.62- others(65): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133140835 | AGAAGACG others(41): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01258.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0022a0001c0001t0002g0026others(4): Show | 7 | 68 | 0.1029 | -48 | c.62- others(67): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133140997 | AGACGACG others(41): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03516.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0020 | a0001c0001t0003g0016a0001c0001t0013g0041a0001c0001t0020g0033 | 3 | 68 | 0.0441 | -48 | c.62- others(67): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133458576 | TGTGTGTA others(41): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01496.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0001g0047a0001c0001t0007g0029a0001c0001t0009g0060others(2): Show | 5 | 68 | 0.0735 | -48 | c.61+ others(65): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OR10A4_chr11_6871625_6882619 | 6881978 | ATATTGAA others(41): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | -48 | c.*43 others(59): Show |
OR10A4 | ENSG00000170782.3 | transcript | ENST00000379829.2 | protein_coding | 4360 | chr11 | TogoVar | ||||||
OR1F1_chr16_3183204_3211556 | 3197989 | AGGAGAGG others(41): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01884.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0017a0002c0002t0001others(1): Show | a0001c0001t0002g0069a0001c0001t0002g0070a0001c0001t0002g0071others(11): Show | 17 | 328 | 0.0518 | -48 | c.-12 others(65): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
OR2B11_chr1_247444182_247463104 | 247458624 | GGTGTGTG others(41): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0010 | a0010c0032 | a0010c0032t0164 | a0010c0032t0164g0216 | 1 | 478 | 0.0021 | -48 | c.-41 others(59): Show |
OR2B11 | ENSG00000177535.10 | transcript | ENST00000641149.2 | protein_coding | 521 | chr1 | TogoVar | ||||||
OR2M3_chr1_248192265_248217925 | 248213405 | ATATATAT others(41): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp1 HG03471.hp2 NA18522.hp2 |
a0001a0005 | a0001c0003a0005c0013 | a0001c0003t0049a0001c0003t0050a0005c0013t0047 | a0001c0003t0049g0037a0001c0003t0050g0022a0005c0013t0047g0027 | 3 | 410 | 0.0073 | -48 | c.*94 others(59): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 481 | chr1 | TogoVar | ||||||
OR4M2_chr15_22075527_22086610 | 22084686 | CATATATA others(41): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 50 | 0.1800 | -48 | c.*31 others(59): Show |
OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 3077 | chr15 | TogoVar | ||||||
OR4N4C_chr15_21646844_21657968 | 21653406 | AATATATT others(41): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01069.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0000a0001c0004t0001g0000a0002c0003t0001g0000others(3): Show | 56 | 216 | 0.2593 | -48 | c.*52 others(57): Show |
OR4N4C | ENSG00000279408.3 | transcript | ENST00000623441.1 | protein_coding | 439 | chr15 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22636225 | GCCCTCTC others(41): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0125 | 1 | 362 | 0.0028 | -48 | c.-27 others(65): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OR8B2_chr11_124377394_124389499 | 124382877 | GCTCCAGC others(41): Show |
G | disruptive_inframe_deletion | MODERATE | HG03831.hp2 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0024 | 1 | 444 | 0.0023 | -48 | c.419 others(55): Show |
p.Val others(13): Show |
OR8B2 | ENSG00000284680.3 | transcript | ENST00000641451.2 | protein_coding | 2/2 | 609/1093 | 419/942 | 140/313 | chr11 | TogoVar | ||
OSBPL10_chr3_31655825_31986262 | 31812718 | AAAAGAAA others(41): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 186 | 0.0054 | -48 | c.729 others(67): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
OSBPL2_chr20_62233521_62301183 | 62278516 | GTTGCCAA others(41): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp1 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(89): Show | 96 | 348 | 0.2759 | -48 | c.492 others(63): Show |
OSBPL2 | ENSG00000130703.17 | transcript | ENST00000313733.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OSCAR_chr19_54089668_54105803 | 54096461 | TGCCTCTC others(41): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 443 | 0.0023 | -48 | c.373 others(63): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75128456 | CATATATA others(41): Show |
C | intron_variant | MODIFIER | HG01361.hp1 NA18983.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0246a0001c0002t0003g0294 | 2 | 366 | 0.0055 | -48 | c.132 others(63): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSTF1_chr9_75083514_75152265 | 75128479 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 366 | 0.0027 | -48 | c.132 others(63): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSTF1_chr9_75083514_75152265 | 75128533 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01099.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0004g0002a0001c0001t0004g0153a0001c0001t0004g0156others(6): Show | 10 | 366 | 0.0273 | -48 | c.132 others(63): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OTUD7A_chr15_31470398_31875673 | 31510809 | TACATATG others(41): Show |
T | intron_variant | MODIFIER | HG03195.hp2 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0030a0001c0002t0095 | a0001c0002t0030g0013a0001c0002t0095g0073 | 2 | 244 | 0.0082 | -48 | c.894 others(65): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510811 | CATATGTA others(41): Show |
C | intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0098 | 1 | 244 | 0.0041 | -48 | c.894 others(65): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106405158 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 172 | 0.0058 | -48 | c.23+ others(65): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | chr8 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3699877 | GGAAGGAA others(41): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00735.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0096a0001c0001t0001g0148a0001c0001t0001g0272others(4): Show | 7 | 362 | 0.0193 | -48 | c.-39 others(59): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3723 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3699881 | GGAAGGAA others(41): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp2 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028a0002c0002t0001g0206 | 2 | 362 | 0.0055 | -48 | c.-39 others(59): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3727 | chr17 | TogoVar | ||||||
PABIR2_chrX_134764566_134802205 | 134788146 | TACGTTAT others(41): Show |
T | intron_variant | MODIFIER | HG01192.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0140 | 3 | 217 | 0.0138 | -48 | c.435 others(63): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 6/9 | chrX | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 42981778 | TGGGTCAG others(41): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0071 | 1 | 294 | 0.0034 | -48 | c.-78 others(67): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172348 | TTATATAT others(41): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp1 HG03041.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0069a0001c0001t0088 | a0001c0001t0032g0212a0001c0001t0032g0224a0001c0001t0069g0225others(1): Show | 4 | 432 | 0.0093 | -48 | c.*46 others(59): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1304 | chr11 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172364 | ATATATAT others(41): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0121 | 1 | 432 | 0.0023 | -48 | c.*46 others(59): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1320 | chr11 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172370 | ATATATAT others(41): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0114 | 1 | 432 | 0.0023 | -48 | c.*46 others(59): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1326 | chr11 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172372 | ATATATAT others(41): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0044a0001c0001t0051g0045 | 2 | 432 | 0.0046 | -48 | c.*46 others(59): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1328 | chr11 | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102868128 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp1 others(60): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0003a0001c0002t0011others(6): Show | a0001c0002t0001g0003a0001c0002t0001g0021a0001c0002t0001g0027others(58): Show | 63 | 312 | 0.2019 | -48 | c.442 others(65): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196761789 | ACCCCCAC others(41): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0008a0001c0003t0006others(1): Show | a0001c0001t0006g0062a0001c0001t0008g0068a0001c0003t0006g0066others(5): Show | 8 | 178 | 0.0449 | -48 | c.-21 others(67): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAK5_chr20_9532370_9844076 | 9766474 | TGTATATA others(41): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03209.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0002 | a0001c0002t0002g0083a0001c0002t0002g0084a0001c0006t0002g0178 | 3 | 208 | 0.0144 | -48 | c.-16 others(69): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PALM_chr19_703935_753329 | 735205 | GTGTCCTG others(41): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0380 | 1 | 404 | 0.0025 | -48 | c.443 others(63): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 6/8 | chr19 | TogoVar | ||||||
PANX2_chr22_50165731_50185295 | 50166553 | CCAATCCC others(41): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01169.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0109a0001c0001t0002g0001a0001c0001t0002g0124 | 3 | 440 | 0.0068 | -48 | c.-41 others(59): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4177 | chr22 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116405025 | GATCATAG others(41): Show |
G | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 234 | 0.0043 | -48 | c.*84 others(59): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 2705 | chr9 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69355296 | CTTTCTTT others(41): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG01496.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0238a0001c0001t0001g0252a0001c0001t0001g0276others(5): Show | 8 | 284 | 0.0282 | -48 | c.-11 others(67): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR6_chr1_156238320_156253056 | 156249901 | AAGCTAGA others(41): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -48 | c.-20 others(59): Show |
PAQR6 | ENSG00000160781.17 | transcript | ENST00000292291.10 | protein_coding | 1846 | chr1 | TogoVar |