regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL31RA_chr5_55846357_55927850 | 55897000 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0022a0003c0004t0001 | a0001c0001t0022g0275a0003c0004t0001g0307 | 2 | 322 | 0.0062 | 40 | c.852 others(55): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0063 | 1 | 322 | 0.0031 | 40 | c.852 others(55): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03225.hp2 NA19072.hp2 others(3): Show |
a0002a0008 | a0002c0002a0008c0019 | a0002c0002t0001a0002c0002t0016a0002c0002t0033others(3): Show | a0002c0002t0001g0026a0002c0002t0016g0124a0002c0002t0033g0122others(3): Show | 6 | 322 | 0.0186 | 40 | c.852 others(55): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03239.hp2 NA19043.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0020a0002c0002t0012 | a0001c0003t0020g0078a0002c0002t0012g0101 | 2 | 322 | 0.0062 | 40 | c.852 others(55): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 322 | 0.0031 | 40 | c.852 others(55): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3066904 | A | ACACCCCG others(33): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301a0001c0001t0001g0316 | 2 | 458 | 0.0044 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGCCCAC others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 NA18942.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0136a0001c0001t0001g0188others(5): Show | 8 | 458 | 0.0175 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3066910 | C | CGGTCCAC others(33): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0293 | 3 | 458 | 0.0066 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3066920 | A | AGGCCCTG others(33): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02723.hp2 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0102a0001c0001t0001g0120others(2): Show | 5 | 458 | 0.0109 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3066960 | A | AGGCCCTG others(33): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 458 | 0.0022 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3066960 | A | AGGCCCTG others(33): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03831.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0231 | 3 | 458 | 0.0066 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3067000 | A | AGGCCCTG others(33): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0207 | 2 | 458 | 0.0044 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3067040 | A | AGGCCCTG others(33): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0354 | 1 | 458 | 0.0022 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3067040 | A | AGGCCCTG others(33): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 458 | 0.0022 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3067117 | T | TGCTGGCC others(33): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03688.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0084a0001c0001t0001g0376 | 3 | 458 | 0.0066 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL32_chr16_3060640_3074530 | 3067120 | T | TGGCCCTG others(33): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0001t0001g0072others(6): Show | 11 | 458 | 0.0240 | 40 | c.16- others(53): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL34_chr16_70641559_70665682 | 70660839 | G | GGCCCAGC others(33): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 HG02155.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 3 | 438 | 0.0069 | 40 | c.*65 others(49): Show |
IL34 | ENSG00000157368.12 | transcript | ENST00000288098.7 | protein_coding | 158 | chr16 | TogoVar | ||||||
IL36B_chr2_113017089_113057867 | 113017625 | G | GAGAAGAA others(33): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 404 | 0.0025 | 40 | c.*50 others(51): Show |
IL36B | ENSG00000136696.11 | transcript | ENST00000259213.9 | protein_coding | 4463 | chr2 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1366884 | G | GGGTGCGC others(33): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 115 | 0.0087 | 40 | c.874 others(57): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1366942 | C | CGCGGGTG others(33): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 115 | 0.0087 | 40 | c.874 others(57): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1382257 | T | TGGGATGA others(33): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 115 | 0.0087 | 40 | c.106 others(57): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL6_chr7_22722200_22736998 | 22732101 | T | TATATACT others(33): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG02109.hp1 HG02698.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0001g0017a0001c0001t0001g0028others(1): Show | 7 | 418 | 0.0168 | 40 | c.*52 others(49): Show |
IL6 | ENSG00000136244.12 | transcript | ENST00000258743.10 | protein_coding | 104 | chr7 | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 111214599 | T | TGCCTCAG others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010a0001c0001t0003g0011 | 2 | 84 | 0.0238 | 40 | c.240 others(61): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 111522926 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0043a0001c0001t0009g0082 | 2 | 84 | 0.0238 | 40 | c.-2- others(55): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
IMPA1_chr8_81651914_81691325 | 81684502 | A | AAGTATCT others(33): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 380 | 0.0026 | 40 | c.-25 others(57): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
IMPA1_chr8_81651914_81691325 | 81684502 | A | AAGTATCT others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(75): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0014a0001c0001t0026others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0010others(34): Show | 78 | 380 | 0.2053 | 40 | c.-25 others(57): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
IMPG1_chr6_75916114_76077662 | 75974393 | T | TTCTTTTC others(33): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 302 | 0.0033 | 40 | c.129 others(61): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 12/16 | chr6 | TogoVar | ||||||
INAVA_chr1_200889900_200920742 | 200917808 | G | GCTCTCTC others(33): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 1 | 424 | 0.0024 | 40 | c.*41 others(51): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 2067 | chr1 | TogoVar | ||||||
INAVA_chr1_200889900_200920742 | 200917847 | C | CTCTCTCT others(33): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 424 | 0.0024 | 40 | c.*42 others(51): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 2106 | chr1 | TogoVar | ||||||
INAVA_chr1_200889900_200920742 | 200917847 | C | CTCTCTCT others(33): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 NA18939.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0007 | a0001c0002t0005g0002a0001c0002t0007g0002 | 2 | 424 | 0.0047 | 40 | c.*42 others(51): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 2106 | chr1 | TogoVar | ||||||
INAVA_chr1_200889900_200920742 | 200917847 | C | CTCTCTCT others(33): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0142 | 1 | 424 | 0.0024 | 40 | c.*42 others(51): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 2106 | chr1 | TogoVar | ||||||
INAVA_chr1_200889900_200920742 | 200917847 | C | CTCTCTCT others(33): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 1 | 424 | 0.0024 | 40 | c.*42 others(51): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 2106 | chr1 | TogoVar | ||||||
INA_chr10_103272138_103295346 | 103278903 | G | GCACACAC others(33): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 2 | 418 | 0.0048 | 40 | c.106 others(57): Show |
INA | ENSG00000148798.11 | transcript | ENST00000369849.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INHA_chr2_219567310_219580711 | 219577899 | C | CGCAGCAA others(33): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 40 | c.*23 others(51): Show |
INHA | ENSG00000123999.5 | transcript | ENST00000243786.3 | protein_coding | 2189 | chr2 | TogoVar | ||||||
INPP4B_chr4_142018160_142851301 | 142692930 | G | GATAGATA others(33): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 90 | 0.0111 | 40 | c.-19 others(61): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132596935 | G | GCATGTGT others(33): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 204 | 0.0049 | 40 | c.76- others(57): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132611099 | G | GAGGTGAG others(33): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01952.hp1 HG02015.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(9): Show | 12 | 204 | 0.0588 | 40 | c.117 others(57): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
INPP5B_chr1_37855697_37952053 | 37917308 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 346 | 0.0029 | 40 | c.532 others(59): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 7/23 | chr1 | TogoVar | ||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0040 | 1 | 346 | 0.0029 | 40 | c.281 others(57): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18975.hp2 NA18979.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0328a0002c0002t0003g0329a0002c0002t0003g0330 | 3 | 346 | 0.0087 | 40 | c.281 others(57): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19063.hp1 NA19083.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0020 | a0002c0002t0002g0325a0002c0002t0003g0323a0002c0002t0003g0324others(1): Show | 4 | 346 | 0.0116 | 40 | c.281 others(57): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02155.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0312a0002c0002t0003g0313 | 2 | 346 | 0.0058 | 40 | c.281 others(57): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
INPP5D_chr2_233055342_233212903 | 233116248 | G | GATAGATA others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0018t0005 | a0001c0001t0001g0052a0001c0001t0002g0172a0001c0018t0005g0170 | 3 | 310 | 0.0097 | 40 | c.199 others(57): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INPP5D_chr2_233055342_233212903 | 233116248 | G | GATAGATA others(33): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001a0001c0001t0007g0002 | 2 | 310 | 0.0065 | 40 | c.199 others(57): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INPP5E_chr9_136423619_136444845 | 136431599 | C | CCCCCCAG others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01346.hp2 NA19065.hp1 |
a0001a0008 | a0001c0001a0008c0017 | a0001c0001t0001a0008c0017t0001 | a0001c0001t0001g0074a0001c0001t0001g0128a0008c0017t0001g0063 | 3 | 382 | 0.0079 | 40 | c.154 others(57): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
INPP5E_chr9_136423619_136444845 | 136431641 | C | CCCCCCAG others(33): Show |
intron_variant | MODIFIER | HG03831.hp1 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0106a0001c0001t0022g0107 | 2 | 382 | 0.0052 | 40 | c.154 others(57): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15113143 | T | TTCTTTCT others(33): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 HG02572.hp1 HG02735.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0170a0001c0001t0001g0192a0001c0001t0001g0213others(7): Show | 10 | 270 | 0.0370 | 40 | c.-19 others(51): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1779 | chr11 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15113143 | T | TTCTTTCT others(33): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 270 | 0.0037 | 40 | c.-19 others(51): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1779 | chr11 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15116849 | C | CTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0246 | 1 | 270 | 0.0037 | 40 | c.-46 others(57): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
INSC_chr11_15109923_15252208 | 15116849 | C | CTTTCTTT others(33): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 270 | 0.0037 | 40 | c.-46 others(57): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |