| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OR6Q1_chr11_58025953_58036906 | 58034769 | T | TCCTTCCT others(45): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 3 | 416 | 0.0072 | 52 | c.*28 others(63): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 2864 | chr11 | TogoVar | ||||||
| OR6Q1_chr11_58025953_58036906 | 58034769 | T | TCCTTCCT others(45): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 HG02165.hp1 HG02735.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 11 | 416 | 0.0264 | 52 | c.*28 others(63): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 2864 | chr11 | TogoVar | ||||||
| OR6Q1_chr11_58025953_58036906 | 58034769 | T | TCCTTCCT others(45): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG03017.hp2 HG04204.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 6 | 416 | 0.0144 | 52 | c.*28 others(63): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 2864 | chr11 | TogoVar | ||||||
| OR9Q1_chr11_58018881_58186616 | 58034767 | C | CTTCCTTC others(45): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0284 | 1 | 324 | 0.0031 | 52 | c.-93 others(71): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OR9Q1_chr11_58018881_58186616 | 58034769 | T | TCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03710.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0017 | a0001c0002t0001g0285a0001c0002t0017g0286 | 2 | 324 | 0.0062 | 52 | c.-93 others(71): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OR9Q1_chr11_58018881_58186616 | 58034769 | T | TCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 324 | 0.0031 | 52 | c.-93 others(71): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OR9Q1_chr11_58018881_58186616 | 58034769 | T | TCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02165.hp1 HG02735.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0179a0001c0002t0001g0173a0001c0002t0001g0174others(5): Show | 8 | 324 | 0.0247 | 52 | c.-93 others(71): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OR9Q1_chr11_58018881_58186616 | 58034769 | T | TCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03017.hp2 HG04204.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0189a0001c0001t0001g0244a0001c0002t0001g0188others(3): Show | 6 | 324 | 0.0185 | 52 | c.-93 others(71): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OR9Q1_chr11_58018881_58186616 | 58053646 | A | ATTATATA others(45): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 324 | 0.0031 | 52 | c.-92 others(69): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ORAI2_chr7_102428575_102461825 | 102430640 | A | AAGGGAAG others(45): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(155): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(60): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(121): Show | 158 | 404 | 0.3911 | 52 | c.-31 others(63): Show |
ORAI2 | ENSG00000160991.17 | transcript | ENST00000495936.7 | protein_coding | 2934 | chr7 | TogoVar | ||||||
| OSBPL1A_chr18_24157052_24402824 | 24175115 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 206 | 0.0049 | 52 | c.209 others(71): Show |
OSBPL1A | ENSG00000141447.19 | transcript | ENST00000319481.8 | protein_coding | 21/27 | chr18 | TogoVar | ||||||
| OSCP1_chr1_36412906_36455451 | 36427299 | C | CTTTTTTT others(45): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0211 | 1 | 380 | 0.0026 | 52 | c.517 others(69): Show |
OSCP1 | ENSG00000116885.18 | transcript | ENST00000235532.9 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
| OSGIN1_chr16_83948240_83971332 | 83950544 | C | CATGCATA others(45): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 350 | 0.0029 | 52 | c.-28 others(63): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2695 | chr16 | TogoVar | ||||||
| OSTC_chr4_108645599_108672820 | 108664170 | C | CTATTTTA others(45): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02976.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0027 | 4 | 372 | 0.0108 | 52 | c.432 others(69): Show |
OSTC | ENSG00000198856.13 | transcript | ENST00000361564.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| OXR1_chr8_106265190_106757694 | 106285881 | G | GCATCATT others(45): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 172 | 0.0058 | 52 | c.-13 others(73): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| P2RX7_chr12_121127876_121193032 | 121130820 | A | AGAAAGAA others(45): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01243.hp2 others(9): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0005c0006others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(8): Show | a0001c0001t0001g0331a0002c0002t0001g0286a0002c0002t0003g0217others(9): Show | 12 | 366 | 0.0328 | 52 | c.-21 others(63): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2055 | chr12 | TogoVar | ||||||
| P2RY14_chr3_151207117_151283542 | 151239444 | C | CATGGAAG others(45): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 404 | 0.0025 | 52 | c.-13 others(73): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1468778 | T | TCCCCTCT others(45): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 114 | 0.0088 | 52 | c.-24 others(69): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1473596 | G | GTGGATTG others(45): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01928.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0030a0002c0002t0004others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0043a0001c0001t0001g0045others(7): Show | 10 | 114 | 0.0877 | 52 | c.-24 others(69): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1532337 | T | TATGTATA others(45): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0013 | 1 | 114 | 0.0088 | 52 | c.-25 others(69): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1532337 | T | TATGTATA others(45): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02273.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0014a0002c0002t0004g0024 | 2 | 114 | 0.0175 | 52 | c.-25 others(69): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| P3H2_chr3_189951728_190125897 | 190028670 | G | GATGGAGA others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(128): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(128): Show | 131 | 304 | 0.4309 | 52 | c.481 others(71): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
| P4HA2_chr5_132185147_132232853 | 132208436 | A | AGGGGGAG others(45): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 426 | 0.0024 | 52 | c.904 others(67): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | ||||||
| PABIR1_chr9_68775065_68790566 | 68785943 | T | TCCCTCCC others(45): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 436 | 0.0023 | 52 | c.*49 others(63): Show |
PABIR1 | ENSG00000187866.10 | transcript | ENST00000394264.7 | protein_coding | 378 | chr9 | TogoVar | ||||||
| PACS2_chr14_105309748_105403147 | 105356775 | G | GGTCCTGC others(45): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0018 | a0002c0018t0024 | a0002c0018t0024g0202 | 1 | 210 | 0.0048 | 52 | c.423 others(69): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PACS2_chr14_105309748_105403147 | 105356819 | G | GCAGGCGA others(45): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0002a0005 | a0002c0002a0002c0017a0005c0013 | a0002c0002t0012a0002c0017t0051a0005c0013t0045 | a0002c0002t0012g0197a0002c0002t0012g0198a0002c0017t0051g0168others(1): Show | 4 | 210 | 0.0191 | 52 | c.423 others(69): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PACSIN2_chr22_42864773_43020149 | 42975457 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0005 | a0001c0005t0023 | a0001c0005t0023g0281 | 1 | 294 | 0.0034 | 52 | c.-78 others(71): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
| PADI1_chr1_17200128_17251007 | 17235273 | A | AGGAAGGA others(45): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 406 | 0.0025 | 52 | c.131 others(71): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PADI1_chr1_17200128_17251007 | 17235281 | A | AGGAAGGA others(45): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 | 1 | 406 | 0.0025 | 52 | c.131 others(71): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PADI1_chr1_17200128_17251007 | 17235281 | A | AGGAAGGA others(45): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0338 | 1 | 406 | 0.0025 | 52 | c.131 others(71): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168588789 | A | AACAAAGA others(45): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 156 | 0.0064 | 52 | c.908 others(71): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168625502 | G | GATAGATA others(45): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0007 | a0007c0023 | a0007c0023t0001 | a0007c0023t0001g0056 | 1 | 156 | 0.0064 | 52 | c.909 others(71): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168625502 | G | GATAGATA others(45): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0139 | 1 | 156 | 0.0064 | 52 | c.909 others(71): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0072 | 1 | 372 | 0.0027 | 52 | c.28- others(67): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 | 1 | 372 | 0.0027 | 52 | c.28- others(67): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PARD6G_chr18_80152232_80252514 | 80250181 | G | GATTGGTA others(45): Show |
upstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0369 | 1 | 382 | 0.0026 | 52 | c.-28 others(63): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2668 | chr18 | TogoVar | ||||||
| PARL_chr3_183824271_183889880 | 183871792 | T | TAGTCACA others(45): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 358 | 0.0028 | 52 | c.126 others(69): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
| PARP10_chr8_143972158_143991460 | 143980967 | G | GGAGGCAA others(45): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0191 | 1 | 380 | 0.0026 | 52 | c.255 others(71): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
| PARP4_chr13_24415931_24517778 | 24455506 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 |
a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0029a0013c0012t0001g0030 | 2 | 362 | 0.0055 | 52 | c.256 others(69): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 21/33 | chr13 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79639879 | C | CCCATTCC others(45): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0249 | 1 | 256 | 0.0039 | 52 | c.517 others(71): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79639881 | T | TATTCCTA others(45): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0171 | 1 | 256 | 0.0039 | 52 | c.517 others(71): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721398 | C | CATATATA others(45): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 NA18941.hp2 NA18942.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0012a0001c0001t0022a0001c0006t0022 | a0001c0001t0012g0004a0001c0001t0012g0018a0001c0001t0022g0004others(1): Show | 7 | 400 | 0.0175 | 52 | c.*68 others(63): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2918 | chr20 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45898334 | A | AGCCTCCC others(45): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0224 | 1 | 292 | 0.0034 | 52 | c.166 others(69): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCCB_chr3_136245340_136335169 | 136264440 | G | GTGTGTAT others(45): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 300 | 0.0033 | 52 | c.543 others(69): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PCDH11X_chrX_91774375_92628230 | 92147841 | T | TTCTTTCT others(45): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0145 | 1 | 154 | 0.0065 | 52 | c.303 others(73): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH11X_chrX_91774375_92628230 | 92411956 | A | AGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0029others(68): Show | 71 | 154 | 0.4610 | 52 | c.334 others(73): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(45): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0106 | 2 | 115 | 0.0174 | 52 | c.285 others(75): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(45): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 115 | 0.0087 | 52 | c.285 others(75): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(45): Show |
intron_variant | MODIFIER | NA18974.hp1 NA20905.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0095a0003c0003t0004g0091 | 2 | 115 | 0.0174 | 52 | c.285 others(75): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| PCDH15_chr10_53797771_54806231 | 54436070 | A | AGAAAGAA others(45): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 102 | 0.0098 | 52 | c.158 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar |