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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALM2AKAP2_chr9_109775198_110177512 | 110048735 | TCCCCCGG others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00733.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0001g0189 others(10): Show |
13 | 220 | 0.0591 | -18 | c.582 others(37): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110060093 | ATTTTGTT others(11): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02622.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0004a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(5): Show | a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0078 others(11): Show |
14 | 124 | 0.1129 | -18 | c.582 others(37): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110165284 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | NA18992.hp1 NA18995.hp1 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0016 | a0002c0002t0004g0004 a0002c0002t0004g0025 a0002c0002t0016g0097 |
3 | 38 | 0.0789 | -18 | c.321 others(37): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99650285 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 19 | 0.1053 | -18 | c.45+ others(33): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683082 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 374 | 0.0027 | -18 | c.252 others(35): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683086 | GAGAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 372 | 0.0027 | -18 | c.252 others(35): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683090 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG01258.hp1 HG01361.hp2 NA18962.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0026 a0001c0001t0001g0088 a0006c0007t0001g0029 |
3 | 345 | 0.0087 | -18 | c.252 others(35): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284547 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG01433.hp1 NA18956.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0026a0006c0006t0001 | a0001c0001t0026g0279 a0006c0006t0001g0242 |
2 | 138 | 0.0145 | -18 | c.367 others(35): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24573297 | TGGAGGAG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 104 | 0.0096 | -18 | c.-29 others(27): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 154 | chr7 | TogoVar | |||||||
PALS2_chr7_24568452_24699193 | 24581244 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 23 | 0.0435 | -18 | c.-3+ others(33): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344728 | CGTGAGAG others(11): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02040.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0078 others(3): Show |
7 | 78 | 0.0897 | -18 | c.4-1 others(31): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM_chr5_102750305_103034716 | 102758068 | ATTTTGTT others(11): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01978.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0092 others(3): Show |
7 | 92 | 0.0761 | -18 | c.-37 others(37): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102758073 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG02056.hp2 others(13): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(13): Show |
16 | 144 | 0.1111 | -18 | c.-37 others(37): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102846530 | CCTCCTGG others(11): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp1 others(34): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0087 a0001c0001t0001g0138 others(34): Show |
37 | 186 | 0.1989 | -18 | c.-37 others(39): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102882052 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19010.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0032 a0001c0001t0002g0185 a0001c0001t0003g0140 others(1): Show |
4 | 22 | 0.1818 | -18 | c.210 others(37): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28194437 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0227 | 1 | 250 | 0.0040 | -18 | c.691 others(35): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PANK2_chr20_3884387_3934887 | 3902972 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0051 | a0001c0001t0022g0015 a0001c0001t0022g0129 a0001c0001t0051g0128 |
4 | 70 | 0.0571 | -18 | c.299 others(35): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PAPLN_chr14_73232506_73279623 | 73247796 | CCGTGTGT others(11): Show |
C | intron_variant | MODIFIER | NA18945.hp1 NA18980.hp2 NA19011.hp2 others(1): Show |
a0017a0037 | a0017c0025a0037c0062 | a0017c0025t0001a0037c0062t0001 | a0017c0025t0001g0023 a0017c0025t0001g0147 a0037c0062t0001g0137 |
4 | 39 | 0.1026 | -18 | c.334 others(35): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | chr14 | TogoVar | |||||||
PAPPA2_chr1_176458175_176850601 | 176481252 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0103 a0001c0001t0004g0104 a0001c0001t0004g0116 others(14): Show |
17 | 27 | 0.6296 | -18 | c.-91 others(39): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176591085 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 | 1 | 38 | 0.0263 | -18 | c.920 others(35): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176809951 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0021 | 1 | 17 | 0.0588 | -18 | c.520 others(37): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116222699 | GTGGGGAA others(11): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02451.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004others(1): Show | a0001c0002t0033a0002c0003t0003a0002c0003t0027others(4): Show | a0001c0002t0033g0019 a0002c0003t0003g0044 a0002c0003t0027g0043 others(4): Show |
7 | 232 | 0.0302 | -18 | c.211 others(37): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116289121 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG01255.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0057others(21): Show | a0001c0001t0001g0181 a0001c0001t0003g0214 a0001c0001t0057g0188 others(25): Show |
29 | 189 | 0.1534 | -18 | c.295 others(39): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87676872 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0325 | 1 | 63 | 0.0159 | -18 | c.27+ others(35): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87734663 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0074 | 1 | 120 | 0.0083 | -18 | c.108 others(37): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300649 | CTTTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0097 | 1 | 277 | 0.0036 | -18 | c.-27 others(37): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300704 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02818.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0242 a0001c0003t0003g0176 a0002c0002t0002g0210 others(5): Show |
8 | 214 | 0.0374 | -18 | c.-27 others(37): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69301859 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG03704.hp2 HG04184.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0003t0003 | a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0001t0001g0075 others(5): Show |
8 | 11 | 0.7273 | -18 | c.-27 others(37): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69319158 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00621.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0159 others(61): Show |
64 | 66 | 0.9697 | -18 | c.-27 others(39): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322691 | GGAAGAAG others(11): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03471.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0138 a0001c0001t0003g0247 others(2): Show |
5 | 220 | 0.0227 | -18 | c.-27 others(39): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322769 | AGAGGGAG others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 a0001c0001t0002g0164 a0001c0001t0002g0173 |
3 | 255 | 0.0118 | -18 | c.-27 others(39): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69342267 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02074.hp2 NA18948.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0021 a0001c0001t0002g0015 a0002c0002t0002g0217 |
3 | 10 | 0.3000 | -18 | c.-11 others(37): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69382659 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(64): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0043 others(64): Show |
67 | 95 | 0.7053 | -18 | c.180 others(35): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204553679 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0009 | a0003c0009t0009 | a0003c0009t0009g0039 | 1 | 54 | 0.0185 | -18 | c.120 others(35): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204838349 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0019 a0001c0001t0010g0050 |
2 | 11 | 0.1818 | -18 | c.223 others(39): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204861162 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02723.hp2 others(2): Show |
a0001a0003a0004others(2): Show | a0001c0015a0003c0005a0004c0026others(2): Show | a0001c0015t0006a0003c0005t0001a0004c0026t0004others(2): Show | a0001c0015t0006g0023 a0003c0005t0001g0009 a0004c0026t0004g0041 others(2): Show |
5 | 8 | 0.6250 | -18 | c.223 others(39): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204998374 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0015 | a0001c0015t0017 | a0001c0015t0017g0011 | 1 | 53 | 0.0189 | -18 | c.394 others(37): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205035811 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02622.hp1 others(5): Show |
a0002a0003a0006 | a0002c0002a0002c0008a0002c0022others(2): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0013others(5): Show | a0002c0002t0001g0027 a0002c0002t0004g0030 a0002c0002t0013g0022 others(5): Show |
8 | 53 | 0.1509 | -18 | c.395 others(37): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205054422 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0026 | a0004c0026t0004 | a0004c0026t0004g0041 | 1 | 54 | 0.0185 | -18 | c.504 others(35): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205054424 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0001 | 1 | 53 | 0.0189 | -18 | c.504 others(35): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205054426 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0002 | 1 | 48 | 0.0208 | -18 | c.504 others(35): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205106481 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03041.hp2 NA19030.hp2 |
a0002a0004a0010 | a0002c0004a0004c0011a0010c0025 | a0002c0004t0021a0004c0011t0003a0010c0025t0022 | a0002c0004t0021g0051 a0004c0011t0003g0043 a0010c0025t0022g0008 |
3 | 9 | 0.3333 | -18 | c.593 others(35): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205289865 | CAGAGAGT others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG03130.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0053 a0001c0003t0001g0031 a0002c0002t0001g0007 others(2): Show |
5 | 54 | 0.0926 | -18 | c.218 others(39): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205322889 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02622.hp2 others(9): Show |
a0001a0002a0004others(5): Show | a0001c0003a0002c0002a0002c0004others(7): Show | a0001c0003t0003a0001c0003t0008a0001c0003t0016others(9): Show | a0001c0003t0003g0047 a0001c0003t0008g0049 a0001c0003t0016g0046 others(9): Show |
12 | 13 | 0.9231 | -18 | c.263 others(39): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205542354 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0004 | a0002c0004t0021 | a0002c0004t0021g0051 | 1 | 14 | 0.0714 | -18 | c.318 others(39): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205550933 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0004 | a0002c0004t0021 | a0002c0004t0021g0051 | 1 | 52 | 0.0192 | -18 | c.318 others(37): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34254377 | TCAAAAAC others(11): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01071.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0059 others(34): Show |
37 | 72 | 0.5139 | -18 | c.341 others(39): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34371486 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA18975.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0004 | 1 | 85 | 0.0118 | -18 | c.170 others(36): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 12/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34371515 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0012a0001c0001t0017a0001c0002t0002others(1): Show | a0001c0001t0012g0075 a0001c0001t0017g0040 a0001c0002t0002g0039 others(1): Show |
4 | 98 | 0.0408 | -18 | c.170 others(35): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 12/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34447480 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 6 | 0.1667 | -18 | c.714 others(35): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 5/24 | chr10 | TogoVar |