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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKG2_chr4_81082375_81220222 | 81217034 | T | TATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 250 | 0.0040 | 20 | c.-21 others(31): Show |
PRKG2 | ENSG00000138669.10 | transcript | ENST00000264399.6 | protein_coding | 1813 | chr4 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161368382 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0003a0002c0007t0013 | a0001c0001t0003g0021 a0002c0007t0013g0018 |
2 | 32 | 0.0625 | 20 | c.116 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161602104 | T | TTATCTAT others(13): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02602.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0009 | a0001c0001t0002g0024 a0001c0001t0006g0003 a0002c0002t0009g0008 |
3 | 32 | 0.0938 | 20 | c.872 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161680775 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 32 | 0.0313 | 20 | c.871 others(41): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161856361 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 32 | 0.0313 | 20 | c.735 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161867747 | T | TTATTTAT others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03041.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0003 | a0001c0001t0002g0005 a0003c0006t0003g0004 |
2 | 32 | 0.0625 | 20 | c.735 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161897984 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0011 a0001c0001t0003g0022 |
2 | 32 | 0.0625 | 20 | c.734 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161902546 | C | CTATCTAT others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03195.hp2 |
a0001a0002 | a0001c0008a0002c0007 | a0001c0008t0010a0002c0007t0013 | a0001c0008t0010g0014 a0002c0007t0013g0018 |
2 | 32 | 0.0625 | 20 | c.734 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161906659 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0024 a0001c0003t0001g0032 |
2 | 32 | 0.0625 | 20 | c.734 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162210107 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03209.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0001 | a0001c0001t0001g0028 a0001c0001t0004g0029 a0001c0003t0001g0032 |
3 | 32 | 0.0938 | 20 | c.413 others(37): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162325139 | T | TGCCAGCC others(13): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01361.hp2 HG01884.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0030 a0001c0001t0002g0005 a0001c0001t0002g0011 others(9): Show |
12 | 32 | 0.3750 | 20 | c.172 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162355388 | A | AATCTATC others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 32 | 0.0313 | 20 | c.171 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162390375 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 32 | 0.0313 | 20 | c.171 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162418613 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03688.hp1 NA18522.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0005a0006c0010t0005 | a0001c0001t0001g0017 a0001c0001t0005g0002 a0006c0010t0005g0013 |
3 | 32 | 0.0938 | 20 | c.171 others(39): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162556342 | G | GGGGTGTG others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 32 | 0.0313 | 20 | c.8-1 others(37): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKRIP1_chr7_102391363_102431666 | 102431117 | T | TTGTGTGT others(13): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG01069.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0018 others(25): Show |
36 | 382 | 0.0942 | 20 | c.*60 others(31): Show |
PRKRIP1 | ENSG00000128563.13 | transcript | ENST00000397912.3 | protein_coding | 4452 | chr7 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3613854 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03834.hp1 HG04115.hp1 NA19007.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0026a0001c0001t0090a0002c0004t0133 | a0001c0001t0026g0092 a0001c0001t0090g0116 a0002c0004t0133g0220 |
3 | 227 | 0.0132 | 20 | c.952 others(37): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 7/8 | chrX | TogoVar | |||||||
PRLH_chr2_237561574_237572175 | 237566099 | G | GACACATC others(13): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | 20 | c.-47 others(29): Show |
PRLH | ENSG00000071677.1 | transcript | ENST00000165524.1 | protein_coding | 474 | chr2 | TogoVar | |||||||
PRLR_chr5_35050702_35235487 | 35074504 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03195.hp2 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0006a0002c0002t0024a0002c0005t0027 | a0001c0001t0006g0031 a0001c0001t0006g0043 a0002c0002t0024g0002 others(1): Show |
4 | 214 | 0.0187 | 20 | c.374 others(37): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
PRLR_chr5_35050702_35235487 | 35153731 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02559.hp1 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0045a0002c0002t0007others(1): Show | a0001c0001t0001g0065 a0001c0001t0045g0018 a0002c0002t0007g0115 others(4): Show |
7 | 214 | 0.0327 | 20 | c.-10 others(41): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
PRMT2_chr21_46630674_46670124 | 46662002 | A | ATGGGGCA others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0229 |
2 | 426 | 0.0047 | 20 | c.109 others(35): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46662002 | A | ATGGGGCG others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 a0001c0001t0004g0093 |
2 | 426 | 0.0047 | 20 | c.109 others(35): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46662003 | T | TGGGGCGC others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0058 | 1 | 426 | 0.0024 | 20 | c.109 others(35): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46662016 | A | AGGGGGTG others(13): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 426 | 0.0024 | 20 | c.109 others(35): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT7_chr16_68306019_68363584 | 68319711 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01243.hp1 HG01515.hp1 others(13): Show |
a0001a0006 | a0001c0001a0001c0015a0006c0019 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 others(13): Show |
16 | 284 | 0.0563 | 20 | c.96- others(35): Show |
PRMT7 | ENSG00000132600.18 | transcript | ENST00000441236.3 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRMT7_chr16_68306019_68363584 | 68344933 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006a0001c0003t0019 | a0001c0003t0002g0032 a0001c0003t0002g0106 a0001c0003t0006g0010 others(2): Show |
6 | 284 | 0.0211 | 20 | c.928 others(35): Show |
PRMT7 | ENSG00000132600.18 | transcript | ENST00000441236.3 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3490675 | A | AAGAGAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG01256.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0071 others(4): Show |
8 | 364 | 0.0220 | 20 | c.-95 others(29): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 527 | chr12 | TogoVar | |||||||
PRMT8_chr12_3486203_3598973 | 3496199 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02451.hp2 NA18939.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0179 a0001c0001t0001g0237 a0001c0001t0001g0238 others(2): Show |
5 | 364 | 0.0137 | 20 | c.75+ others(35): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 364 | 0.0028 | 20 | c.75+ others(35): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 364 | 0.0028 | 20 | c.75+ others(35): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3527335 | G | GGCGGGCA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0264 | 1 | 364 | 0.0028 | 20 | c.76- others(37): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3558961 | C | CCTATCTA others(13): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0049 others(6): Show |
9 | 364 | 0.0247 | 20 | c.481 others(37): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PROB1_chr5_139385592_139400104 | 139399417 | T | TAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 348 | 0.0029 | 20 | c.-43 others(31): Show |
PROB1 | ENSG00000228672.4 | transcript | ENST00000434752.4 | protein_coding | 4314 | chr5 | TogoVar | |||||||
PROCR_chr20_35167072_35182362 | 35174994 | A | AGTGGGGG others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0055 others(1): Show |
9 | 392 | 0.0230 | 20 | c.322 others(33): Show |
PROCR | ENSG00000101000.6 | transcript | ENST00000216968.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PRODH2_chr19_35794988_35817845 | 35811457 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02886.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0081 a0002c0008t0001g0070 |
2 | 428 | 0.0047 | 20 | c.597 others(35): Show |
PRODH2 | ENSG00000250799.11 | transcript | ENST00000653904.2 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
PRODH_chr22_18907781_18941293 | 18936335 | T | TCCCGCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 409 | 0.0024 | 20 | c.-68 others(27): Show |
PRODH | ENSG00000100033.17 | transcript | ENST00000357068.11 | protein_coding | 43 | chr22 | TogoVar | |||||||
PROKR2_chr20_5294218_5321954 | 5298435 | T | TGTGTGCG others(13): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0062 | 1 | 424 | 0.0024 | 20 | c.*36 others(31): Show |
PROKR2 | ENSG00000101292.8 | transcript | ENST00000678254.1 | protein_coding | 782 | chr20 | TogoVar | |||||||
PROM1_chr4_15963228_16089023 | 15980946 | G | GTTATTTA others(13): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02004.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0166 a0001c0001t0001g0212 a0001c0002t0001g0050 others(3): Show |
6 | 374 | 0.0160 | 20 | c.237 others(37): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 23/27 | chr4 | TogoVar | |||||||
PROM1_chr4_15963228_16089023 | 16010717 | C | CATGTTGC others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 | 1 | 374 | 0.0027 | 20 | c.114 others(39): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 11/27 | chr4 | TogoVar | |||||||
PROM1_chr4_15963228_16089023 | 16027297 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01978.hp2 HG01993.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0040 a0001c0001t0002g0308 a0001c0001t0003g0053 others(4): Show |
7 | 374 | 0.0187 | 20 | c.510 others(37): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 5/27 | chr4 | TogoVar | |||||||
PRORP_chr14_35117552_35282622 | 35172453 | C | CTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG01981.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0160 others(7): Show |
10 | 314 | 0.0319 | 20 | c.116 others(39): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRORP_chr14_35117552_35282622 | 35180526 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0050 a0001c0001t0007g0176 |
2 | 314 | 0.0064 | 20 | c.116 others(37): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11840955 | A | AAAATATA others(13): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0282 | 1 | 348 | 0.0029 | 20 | c.-81 others(39): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11842931 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA19084.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0121 a0001c0001t0020g0090 |
2 | 348 | 0.0058 | 20 | c.-81 others(37): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROSER3_chr19_35753176_35776166 | 35771989 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 a0001c0001t0004g0135 |
2 | 424 | 0.0047 | 20 | c.*34 others(31): Show |
PROSER3 | ENSG00000167595.16 | transcript | ENST00000646935.2 | protein_coding | 824 | chr19 | TogoVar | |||||||
PROX2_chr14_74848033_74881145 | 74870441 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01106.hp2 others(46): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0007others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0002g0014 a0001c0001t0002g0029 a0001c0001t0002g0031 others(41): Show |
49 | 384 | 0.1276 | 20 | c.-17 others(37): Show |
PROX2 | ENSG00000119608.15 | transcript | ENST00000556489.4 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
PROX2_chr14_74848033_74881145 | 74878668 | A | AGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 384 | 0.0026 | 20 | c.-30 others(31): Show |
PROX2 | ENSG00000119608.15 | transcript | ENST00000556489.4 | protein_coding | 2524 | chr14 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150348459 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 a0001c0001t0001g0350 |
2 | 362 | 0.0055 | 20 | c.184 others(37): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | chr1 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150348460 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0092 a0001c0001t0001g0206 a0001c0001t0001g0207 others(12): Show |
15 | 362 | 0.0414 | 20 | c.184 others(37): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF3_chr1_150316533_150358233 | 150348476 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 362 | 0.0028 | 20 | c.184 others(37): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |