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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PADI6_chr1_17367196_17406699 | 17367486 | G | GTCTTTTG others(21): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(81): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0078 others(65): Show |
84 | 412 | 0.2039 | 28 | c.-47 others(39): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 4709 | chr1 | TogoVar | |||||||
PADI6_chr1_17367196_17406699 | 17379111 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0041 | 1 | 412 | 0.0024 | 28 | c.368 others(43): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2664665 | G | GCGCGCTC others(21): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 280 | 0.0036 | 28 | c.33- others(41): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PAICS_chr4_56431260_56469578 | 56438378 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 380 | 0.0026 | 28 | c.16+ others(43): Show |
PAICS | ENSG00000128050.9 | transcript | ENST00000512576.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43531656 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18943.hp2 NA18949.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 others(4): Show |
7 | 350 | 0.0200 | 28 | c.125 others(47): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77399858 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0232 | 1 | 302 | 0.0033 | 28 | c.-21 others(45): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196751695 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0089 | 1 | 178 | 0.0056 | 28 | c.-22 others(47): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196751695 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01934.hp2 HG02055.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0017a0001c0001t0065others(1): Show | a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0017g0100 others(2): Show |
5 | 178 | 0.0281 | 28 | c.-22 others(47): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PAK3_chrX_111091191_111232361 | 111103015 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0028a0001c0001t0039 | a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0028g0142 others(1): Show |
4 | 195 | 0.0205 | 28 | c.-17 others(45): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9802910 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG02572.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0007a0001c0002t0021a0001c0004t0004others(4): Show | a0001c0002t0007g0154 a0001c0002t0021g0204 a0001c0004t0004g0081 others(6): Show |
9 | 208 | 0.0433 | 28 | c.-16 others(49): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9802910 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01981.hp1 NA18747.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0002c0001others(1): Show | a0001c0002t0022a0001c0006t0003a0002c0001t0001others(1): Show | a0001c0002t0022g0109 a0001c0006t0003g0077 a0002c0001t0001g0023 others(3): Show |
6 | 208 | 0.0289 | 28 | c.-16 others(49): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9802910 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01257.hp2 HG02257.hp1 others(1): Show |
a0001a0002 | a0001c0006a0002c0001 | a0001c0006t0003a0002c0001t0001a0002c0001t0005 | a0001c0006t0003g0075 a0002c0001t0001g0095 a0002c0001t0005g0019 others(1): Show |
4 | 208 | 0.0192 | 28 | c.-16 others(49): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PALB2_chr16_23598165_23646310 | 23645137 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 326 | 0.0031 | 28 | c.-39 others(39): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3828 | chr16 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70508843 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00673.hp2 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0019a0001c0001t0040others(15): Show | a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0019g0148 others(40): Show |
43 | 308 | 0.1396 | 28 | c.-29 others(47): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70508854 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0268 | 1 | 308 | 0.0033 | 28 | c.-29 others(47): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168600028 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02451.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0003g0067 a0001c0001t0005g0091 a0001c0001t0005g0097 others(5): Show |
8 | 156 | 0.0513 | 28 | c.909 others(47): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168625500 | G | GAGATAGA others(21): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0115 | 1 | 156 | 0.0064 | 28 | c.909 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0040 | 1 | 156 | 0.0064 | 28 | c.909 others(47): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168625502 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03225.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0020a0003c0008t0004 | a0001c0001t0020g0098 a0003c0008t0004g0052 |
2 | 156 | 0.0128 | 28 | c.909 others(47): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168709641 | A | AAGGGGGA others(21): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG02004.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0086 others(7): Show |
10 | 156 | 0.0641 | 28 | c.162 others(45): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168785846 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | NA19010.hp2 NA21309.hp2 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0002a0002c0003t0004 | a0001c0004t0002g0131 a0002c0003t0004g0041 |
2 | 156 | 0.0128 | 28 | c.196 others(49): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110006324 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0015 | a0015c0014 | a0015c0014t0004 | a0015c0014t0004g0126 | 1 | 222 | 0.0045 | 28 | c.497 others(45): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110076492 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG03017.hp2 NA19060.hp1 NA19240.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0003a0003c0003t0001 | a0001c0001t0001g0023 a0002c0002t0003g0124 a0003c0003t0001g0164 |
3 | 222 | 0.0135 | 28 | c.583 others(47): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110096426 | A | AATTTATT others(21): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01891.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(8): Show | a0001c0001t0001g0101 a0001c0001t0002g0221 a0001c0001t0031g0165 others(12): Show |
15 | 222 | 0.0676 | 28 | c.583 others(47): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110098153 | A | AAGAGAGG others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02080.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0029a0001c0006t0027others(7): Show | a0001c0001t0001g0207 a0001c0001t0029g0128 a0001c0006t0027g0174 others(16): Show |
19 | 222 | 0.0856 | 28 | c.583 others(47): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM3_chr19_14048367_14067076 | 14055253 | A | AGGACAAA others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01123.hp2 others(77): Show |
a0001a0003a0004others(8): Show | a0001c0001a0003c0002a0004c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(11): Show | a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0002g0017 others(38): Show |
80 | 438 | 0.1827 | 28 | c.446 others(41): Show |
PALM3 | ENSG00000187867.10 | transcript | ENST00000669674.2 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
PALS1_chr14_67236435_67341061 | 67280853 | T | TTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG00673.hp2 HG03834.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0228 a0001c0001t0005g0276 a0001c0001t0005g0279 |
3 | 290 | 0.0103 | 28 | c.367 others(45): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24638322 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18993.hp2 |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0017 | a0001c0002t0012g0365 a0001c0002t0017g0296 |
2 | 378 | 0.0053 | 28 | c.118 others(45): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102795189 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 188 | 0.0053 | 28 | c.-37 others(49): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102881129 | T | TATACACA others(21): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0113 a0001c0002t0002g0001 |
2 | 188 | 0.0106 | 28 | c.210 others(47): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102885094 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02559.hp1 NA18964.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0002a0004c0006t0001 | a0001c0001t0001g0016 a0001c0002t0002g0005 a0001c0002t0002g0009 others(2): Show |
5 | 188 | 0.0266 | 28 | c.211 others(47): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102931805 | A | ACTCTCTC others(21): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 188 | 0.0053 | 28 | c.526 others(45): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03942.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 a0001c0001t0001g0281 a0001c0001t0001g0319 |
3 | 416 | 0.0072 | 28 | c.635 others(43): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168569030 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 416 | 0.0024 | 28 | c.29- others(39): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168573416 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0065 | 1 | 416 | 0.0024 | 28 | c.29- others(43): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PAPOLG_chr2_60751268_60807086 | 60783500 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0291 | 1 | 328 | 0.0031 | 28 | c.116 others(45): Show |
PAPOLG | ENSG00000115421.13 | transcript | ENST00000238714.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176510810 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 118 | 0.0085 | 28 | c.-91 others(49): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176623622 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0092 | 1 | 118 | 0.0085 | 28 | c.199 others(49): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176623758 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG03927.hp1 HG04199.hp1 |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0004a0010c0013t0004 | a0001c0001t0004g0104 a0010c0013t0004g0096 |
2 | 118 | 0.0170 | 28 | c.199 others(49): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176623758 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0041 | a0001c0001t0017g0107 a0001c0001t0041g0053 |
2 | 118 | 0.0170 | 28 | c.199 others(49): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176749071 | A | ATCATACA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0043 others(94): Show |
97 | 118 | 0.8220 | 28 | c.415 others(47): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706084 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0082 | 1 | 372 | 0.0027 | 28 | c.28- others(43): 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(21): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0210 | 1 | 372 | 0.0027 | 28 | c.28- others(43): 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(21): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0063 | 1 | 372 | 0.0027 | 28 | c.28- others(43): 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(21): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 372 | 0.0027 | 28 | c.28- others(43): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87724851 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00621.hp1 others(22): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0054 others(22): Show |
25 | 372 | 0.0672 | 28 | c.881 others(45): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300929 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 284 | 0.0035 | 28 | c.-27 others(47): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300933 | C | CTCTTTCC others(21): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0172 | 1 | 284 | 0.0035 | 28 | c.-27 others(47): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300933 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0220 | 1 | 284 | 0.0035 | 28 | c.-27 others(47): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300937 | C | CTCTTTCC others(21): Show |
intron_variant | MODIFIER | NA18989.hp2 NA19070.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0147 a0002c0002t0002g0174 |
2 | 284 | 0.0070 | 28 | c.-27 others(47): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |