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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK5_chr20_9532370_9844076 | 9766478 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0151 | 1 | 206 | 0.0049 | -17 | c.-16 others(38): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168750122 | ATTTTTGT others(10): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02040.hp1 HG02055.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0022a0001c0002t0010others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0022g0146 others(15): Show |
18 | 154 | 0.1169 | -17 | c.196 others(38): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759203 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 131 | 0.0076 | -17 | c.196 others(38): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | chr4 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168838667 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 69 | 0.0145 | -17 | c.196 others(38): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110002408 | CACATCAA others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02886.hp2 others(3): Show |
a0001a0008 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0006t0007others(2): Show | a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0008g0049 others(3): Show |
6 | 220 | 0.0273 | -17 | c.497 others(36): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 110010520 | TTATATAA others(10): Show |
T | intron_variant | MODIFIER | HG03486.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0222 a0001c0001t0008g0049 |
2 | 220 | 0.0091 | -17 | c.497 others(34): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110010638 | ATATAGAA others(10): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0222 a0001c0001t0008g0049 |
2 | 220 | 0.0091 | -17 | c.497 others(34): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110014800 | AAAAATGT others(10): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0031a0002c0004t0002 | a0001c0001t0031g0177 a0002c0004t0002g0220 |
2 | 194 | 0.0103 | -17 | c.497 others(34): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110014802 | AAATGTAT others(10): Show |
A | intron_variant | MODIFIER | HG03017.hp2 NA18944.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0090 |
3 | 140 | 0.0214 | -17 | c.497 others(34): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM3_chr19_14048367_14067076 | 14067040 | AATATATT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01891.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0012others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0012t0001others(5): Show | a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0124 others(10): Show |
20 | 436 | 0.0459 | -17 | c.-50 others(28): Show |
PALM3 | ENSG00000187867.10 | transcript | ENST00000669674.2 | protein_coding | 4965 | chr19 | TogoVar | |||||||
PALS1_chr14_67236435_67341061 | 67284547 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0005 | a0004c0005t0019 | a0004c0005t0019g0288 | 1 | 137 | 0.0073 | -17 | c.367 others(34): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAMR1_chr11_35426827_35530616 | 35502803 | TGATTGTT others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(142): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(136): Show |
145 | 376 | 0.3856 | -17 | c.74- others(32): Show |
PAMR1 | ENSG00000149090.13 | transcript | ENST00000619888.5 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
PAM_chr5_102750305_103034716 | 102794928 | ACCTGTAA others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01496.hp2 others(18): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(18): Show |
21 | 186 | 0.1129 | -17 | c.-37 others(38): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PANK2_chr20_3884387_3934887 | 3918770 | TTGAAAGC others(10): Show |
T | frameshift_variant | HIGH | HG04115.hp2 | a0004 | a0004c0008 | a0004c0008t0058 | a0004c0008t0058g0140 | 1 | 420 | 0.0024 | -17 | c.130 others(26): Show |
p.Leu others(5): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 6/7 | 1351/8020 | 1307/1383 | 436/460 | chr20 | TogoVar | |||
PAPOLB_chr7_4852738_4867030 | 4855055 | TGCTTTTC others(10): Show |
T | downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 436 | 0.0023 | -17 | c.*48 others(28): Show |
PAPOLB | ENSG00000218823.2 | transcript | ENST00000404991.2 | protein_coding | 2682 | chr7 | TogoVar | |||||||
PAPPA2_chr1_176458175_176850601 | 176781365 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0010 | a0010c0012 | a0010c0012t0004 | a0010c0012t0004g0096 | 1 | 20 | 0.0500 | -17 | c.471 others(36): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116213455 | GATTCCCA others(10): Show |
G | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0076 | 1 | 232 | 0.0043 | -17 | c.191 others(36): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116277930 | AGTGCTGG others(10): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0016 | a0002c0016t0032 | a0002c0016t0032g0011 | 1 | 232 | 0.0043 | -17 | c.295 others(36): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116314060 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 NA18522.hp2 |
a0001a0005 | a0001c0001a0005c0024a0005c0025 | a0001c0001t0006a0005c0024t0012a0005c0025t0055 | a0001c0001t0006g0170 a0005c0024t0012g0024 a0005c0025t0055g0020 |
3 | 106 | 0.0283 | -17 | c.314 others(38): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87676872 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0318 | 1 | 63 | 0.0159 | -17 | c.27+ others(34): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300879 | TTCTTTCT others(10): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0095 | 1 | 280 | 0.0036 | -17 | c.-27 others(36): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69355277 | CTCTTTCT others(10): Show |
C | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 282 | 0.0035 | -17 | c.-11 others(36): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205054426 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0007 | a0007c0028 | a0007c0028t0003 | a0007c0028t0003g0007 | 1 | 48 | 0.0208 | -17 | c.504 others(34): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205126752 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0011 | 1 | 9 | 0.1111 | -17 | c.143 others(36): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205133688 | TGTGCCTT others(10): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0021 | 1 | 54 | 0.0185 | -17 | c.143 others(36): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 10/22 | chr2 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205322889 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0016 | 1 | 2 | 0.5000 | -17 | c.263 others(38): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380633 | ATTATATA others(10): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0046 | 1 | 44 | 0.0227 | -17 | c.263 others(38): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34309548 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01109.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0002t0002g0002 others(1): Show |
4 | 29 | 0.1379 | -17 | c.306 others(36): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 20/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34371516 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0031 | 1 | 98 | 0.0102 | -17 | c.170 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 12/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34447480 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0002t0003others(2): Show | a0001c0001t0003g0055 a0001c0001t0012g0052 a0001c0002t0003g0071 others(4): Show |
7 | 12 | 0.5833 | -17 | c.714 others(34): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 5/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605971 | CTATATCT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00735.hp1 others(25): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0084 others(25): Show |
28 | 30 | 0.9333 | -17 | c.223 others(36): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34681754 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0014 | 1 | 95 | 0.0105 | -17 | c.222 others(36): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARG_chr10_49813279_49947027 | 49824619 | ATACTCAC others(10): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 290 | 0.0034 | -17 | c.264 others(36): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 16/17 | chr10 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14472655 | CTAGTAAT others(10): Show |
C | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 168 | 0.0060 | -17 | c.167 others(36): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143980319 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0267 | 1 | 125 | 0.0080 | -17 | c.255 others(36): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PARP12_chr7_140018749_140067951 | 140024472 | TAAAAGTT others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0089 | 1 | 358 | 0.0028 | -17 | c.*71 others(24): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 12/12 | 71 | chr7 | TogoVar | ||||||
PARP15_chr3_122572650_122644047 | 122582747 | TTCTCCTG others(10): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00621.hp2 others(57): Show |
a0001a0005a0006others(4): Show | a0001c0008a0005c0005a0005c0029others(7): Show | a0001c0008t0004a0005c0005t0001a0005c0005t0005others(17): Show | a0001c0008t0004g0282 a0001c0008t0004g0283 a0005c0005t0001g0254 others(57): Show |
60 | 354 | 0.1695 | -17 | c.186 others(34): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP2_chr14_20338635_20362904 | 20347384 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0096 a0001c0002t0001g0038 |
2 | 412 | 0.0049 | -17 | c.324 others(32): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PARP6_chr15_72236181_72277554 | 72255784 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01192.hp1 HG01884.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0057 others(10): Show |
25 | 33 | 0.7576 | -17 | c.112 others(34): Show |
PARP6 | ENSG00000137817.17 | transcript | ENST00000569795.6 | protein_coding | 14/23 | chr15 | TogoVar | |||||||
PARPBP_chr12_102115183_102202520 | 102131934 | TGGCTAAT others(10): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 342 | 0.0029 | -17 | c.153 others(34): Show |
PARPBP | ENSG00000185480.12 | transcript | ENST00000327680.7 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151559866 | TAGCATGA others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0217 | 1 | 219 | 0.0046 | -17 | c.-40 others(28): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 3808 | chrX | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61965121 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 |
a0002a0055 | a0002c0029a0055c0066 | a0002c0029t0002a0055c0066t0002 | a0002c0029t0002g0132 a0055c0066t0002g0123 |
2 | 21 | 0.0952 | -17 | c.367 others(38): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62125247 | AAAAAAAC others(10): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02559.hp1 HG03516.hp1 |
a0007a0020a0022 | a0007c0013a0020c0127a0022c0036 | a0007c0013t0014a0020c0127t0006a0022c0036t0006 | a0007c0013t0014g0156 a0020c0127t0006g0031 a0022c0036t0006g0145 |
3 | 150 | 0.0200 | -17 | c.504 others(36): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59652064 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG02056.hp1 others(7): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0010t0014 | a0001c0001t0004g0012 a0001c0001t0004g0168 a0001c0001t0004g0195 others(5): Show |
10 | 36 | 0.2778 | -17 | c.142 others(34): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 11/18 | chr11 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79639869 | TATTCCTA others(10): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp1 HG03688.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0033a0005c0007t0034 | a0001c0001t0002g0080 a0005c0007t0033g0255 a0005c0007t0034g0254 |
3 | 246 | 0.0122 | -17 | c.517 others(36): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79639975 | TCTAAGCG others(10): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0246 | 1 | 254 | 0.0039 | -17 | c.517 others(36): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222209696 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 3 | 0.3333 | -17 | c.117 others(36): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36870086 | AAATGGAT others(10): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0201 | 1 | 269 | 0.0037 | -17 | c.101 others(38): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36924731 | AGGTGGAA others(10): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0012 | a0001c0002t0011g0235 a0001c0002t0012g0233 a0001c0002t0012g0234 |
3 | 125 | 0.0240 | -17 | c.781 others(34): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
PAX6_chr11_31784026_31816322 | 31794453 | CACACACA others(10): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0209 | 1 | 374 | 0.0027 | -17 | c.724 others(32): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 9/13 | chr11 | TogoVar |