view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKP1_chr1_201278506_201337989 | 201316113 | T | TGGACGGA others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0007 | a0004c0007t0027 | a0004c0007t0027g0061 | 1 | 215 | 0.0047 | 32 | c.702 others(47): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKP1_chr1_201278506_201337989 | 201316121 | T | TGGACGGA others(25): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0098 | 1 | 312 | 0.0032 | 32 | c.702 others(47): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32846745 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18612.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0237 a0002c0002t0006g0209 |
2 | 238 | 0.0084 | 32 | c.137 others(51): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 400887 | C | CGCCCCGC others(25): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 144 | 0.0069 | 32 | c.173 others(49): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401458 | C | CGGCCCCG others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 123 | 0.0081 | 32 | c.173 others(49): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401552 | G | GCCCCGCT others(25): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 58 | 0.0172 | 32 | c.173 others(49): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402628 | C | CGGCTCCA others(25): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0081 |
2 | 100 | 0.0200 | 32 | c.173 others(49): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 403015 | C | CCCCGGAC others(25): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 HG01934.hp2 others(18): Show |
a0001a0006a0009others(2): Show | a0001c0002a0001c0003a0006c0031others(3): Show | a0001c0002t0001a0001c0003t0001a0006c0031t0001others(3): Show | a0001c0002t0001g0168 a0001c0003t0001g0095 a0001c0003t0001g0096 others(18): Show |
21 | 168 | 0.1250 | 32 | c.173 others(47): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186857373 | G | GTATTATA others(25): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 307 | 0.0033 | 32 | c.33+ others(47): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186934443 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 101 | 0.0099 | 32 | c.695 others(49): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48055389 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 |
a0005a0006 | a0005c0014a0006c0023 | a0005c0014t0014a0006c0023t0001 | a0005c0014t0014g0277 a0006c0023t0001g0063 |
2 | 199 | 0.0101 | 32 | c.125 others(49): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 14/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105929 | C | CCTTTCTT others(25): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 274 | 0.0036 | 32 | c.9-4 others(43): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105937 | C | CCTTTCTT others(25): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18943.hp1 NA18967.hp1 |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0006c0011t0001 | a0001c0001t0001g0066 a0001c0001t0001g0083 a0006c0011t0001g0055 |
3 | 236 | 0.0127 | 32 | c.9-4 others(43): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105941 | C | CCTTTCTT others(25): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0090 |
2 | 198 | 0.0101 | 32 | c.9-4 others(43): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105947 | C | CTCCCTCC others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0124 | 1 | 108 | 0.0093 | 32 | c.9-5 others(43): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105947 | C | CTCCTTTC others(25): Show |
intron_variant | MODIFIER | HG03704.hp2 NA19004.hp1 |
a0001a0008 | a0001c0020a0008c0010 | a0001c0020t0001a0008c0010t0010 | a0001c0020t0001g0091 a0008c0010t0010g0077 |
2 | 109 | 0.0183 | 32 | c.9-5 others(43): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G6_chr22_38106495_38186830 | 38116851 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 4 | 0.2500 | 32 | c.174 others(49): Show |
PLA2G6 | ENSG00000184381.20 | transcript | ENST00000332509.8 | protein_coding | 12/16 | chr22 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615064 | G | GTGTGTGT others(25): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 141 | 0.0071 | 32 | c.-73 others(41): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 632 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615076 | G | GTGTGTGT others(25): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01361.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 others(4): Show |
7 | 333 | 0.0210 | 32 | c.-74 others(41): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 644 | chr11 | TogoVar | |||||||
PLAAT3_chr11_63569462_63619433 | 63615292 | A | ATGTGTGT others(25): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG01496.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0323 |
3 | 198 | 0.0152 | 32 | c.-96 others(41): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 860 | chr11 | TogoVar | |||||||
PLAAT5_chr11_63456404_63496167 | 63483827 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0100 | 1 | 265 | 0.0038 | 32 | c.345 others(49): Show |
PLAAT5 | ENSG00000168004.10 | transcript | ENST00000540857.6 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
PLAGL1_chr6_143935300_144013259 | 143985982 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0293 a0001c0001t0007g0014 |
2 | 76 | 0.0263 | 32 | c.-58 others(49): Show |
PLAGL1 | ENSG00000118495.21 | transcript | ENST00000674357.1 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03041.hp2 HG03098.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0303 a0001c0002t0001g0312 a0001c0003t0002g0311 |
3 | 236 | 0.0127 | 32 | c.-27 others(49): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0301 | 1 | 234 | 0.0043 | 32 | c.-27 others(49): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43645481 | C | CTGTGTGT others(25): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 377 | 0.0027 | 32 | c.*34 others(43): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 3097 | chr19 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8391789 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0021 a0001c0001t0010g0008 |
2 | 102 | 0.0196 | 32 | c.246 others(51): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8523490 | C | CCATATAT others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01934.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0016a0001c0002t0003a0001c0003t0002others(1): Show | a0001c0001t0016g0064 a0001c0002t0003g0023 a0001c0003t0002g0090 others(1): Show |
4 | 66 | 0.0606 | 32 | c.247 others(53): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | chr20 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8541562 | G | GAGAAAGA others(25): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0005 | a0001c0001t0006g0096 a0001c0002t0005g0062 |
2 | 28 | 0.0714 | 32 | c.247 others(51): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8541605 | A | AAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029 | 1 | 99 | 0.0101 | 32 | c.247 others(51): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8661993 | T | TAATTATT others(25): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02922.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0002 | a0001c0003t0001g0043 a0001c0004t0002g0050 |
2 | 99 | 0.0202 | 32 | c.862 others(49): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8662164 | C | CTAATTCT others(25): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 | 1 | 81 | 0.0123 | 32 | c.862 others(49): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8662354 | G | GTAATTAT others(25): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0019 a0001c0001t0002g0056 a0001c0001t0010g0008 |
3 | 70 | 0.0429 | 32 | c.862 others(49): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8662354 | G | GTAATTAT others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0002a0001c0005t0001a0001c0006t0020others(3): Show | a0001c0001t0002g0078 a0001c0005t0001g0033 a0001c0005t0001g0082 others(4): Show |
7 | 74 | 0.0946 | 32 | c.862 others(49): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB2_chr15_40282909_40312935 | 40285264 | G | GGTCAGGG others(25): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 386 | 0.0026 | 32 | c.*34 others(43): Show |
PLCB2 | ENSG00000137841.12 | transcript | ENST00000260402.8 | protein_coding | 2644 | chr15 | TogoVar | |||||||
PLCB4_chr20_9064087_9485808 | 9156819 | G | GCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG01928.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0039 a0002c0002t0002g0012 |
2 | 8 | 0.2500 | 32 | c.-79 others(51): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9156851 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 135 | 0.0074 | 32 | c.-79 others(51): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCD1_chr3_38002496_38034642 | 38007400 | G | GACACACA others(25): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 22 | 0.0455 | 32 | c.*37 others(41): Show |
PLCD1 | ENSG00000187091.14 | transcript | ENST00000334661.5 | protein_coding | 95 | chr3 | TogoVar | |||||||
PLCD1_chr3_38002496_38034642 | 38033976 | T | TACACACA others(25): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0086 | 1 | 84 | 0.0119 | 32 | c.-44 others(43): Show |
PLCD1 | ENSG00000187091.14 | transcript | ENST00000334661.5 | protein_coding | 4335 | chr3 | TogoVar | |||||||
PLCD4_chr2_218602899_218642175 | 218616927 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 157 | 0.0064 | 32 | c.181 others(47): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCD4_chr2_218602899_218642175 | 218616927 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 157 | 0.0064 | 32 | c.181 others(47): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCXD3_chr5_41301952_41515601 | 41411931 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 a0001c0001t0002g0145 |
2 | 242 | 0.0083 | 32 | c.104 others(51): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171639541 | A | ATAATATA others(25): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 124 | 0.0081 | 32 | c.259 others(51): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171639598 | C | CATATAAT others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0025 | a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0080 others(3): Show |
6 | 289 | 0.0208 | 32 | c.259 others(51): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764878 | A | AGAAAGAA others(25): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0269 | 1 | 225 | 0.0044 | 32 | c.-31 others(51): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242337258 | T | TCATGAGG others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(104): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(54): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(104): Show |
107 | 186 | 0.5753 | 32 | c.326 others(51): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
PLEKHA5_chr12_19124733_19381400 | 19231604 | A | ATGTATAT others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0126 a0001c0001t0006g0138 a0001c0001t0006g0150 others(1): Show |
4 | 168 | 0.0238 | 32 | c.228 others(51): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19253064 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02723.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0079 a0001c0001t0005g0071 |
2 | 68 | 0.0294 | 32 | c.228 others(47): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 109 | 0.0092 | 32 | c.244 others(51): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150628527 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0066 | 1 | 87 | 0.0115 | 32 | c.-15 others(53): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150628575 | C | CACACACA others(25): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18954.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0002a0002c0009t0001 | a0001c0001t0002g0008 a0002c0009t0001g0216 |
2 | 156 | 0.0128 | 32 | c.-15 others(53): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |