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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKIB_chr6_122605405_122731373 | 122677842 | TCTTCCTT others(5): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0305a0001c0001t0003g0231 | 2 | 312 | 0.0064 | -12 | c.-9+ others(27): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122677882 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01257.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0130a0001c0001t0001g0200others(6): Show | 9 | 312 | 0.0289 | -12 | c.-9+ others(27): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122703935 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0050 | 2 | 312 | 0.0064 | -12 | c.-8- others(29): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122703937 | TATATAGA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01071.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0016a0001c0001t0002g0017others(2): Show | 5 | 312 | 0.0160 | -12 | c.-8- others(29): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122703939 | TATAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0307 | 1 | 312 | 0.0032 | -12 | c.-8- others(29): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122703941 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0142 | 1 | 312 | 0.0032 | -12 | c.-8- others(29): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122719709 | CCACACAT others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02040.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0011a0001c0001t0002g0044a0001c0001t0002g0182others(1): Show | 4 | 312 | 0.0128 | -12 | c.169 others(29): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122719716 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03654.hp1 NA18980.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021a0001c0001t0003g0087a0001c0001t0003g0099 | 3 | 312 | 0.0096 | -12 | c.169 others(29): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKLR_chr1_155284293_155306438 | 155290989 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(23): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0006 | a0001c0001t0001a0001c0002t0002a0008c0006t0001 | a0001c0001t0001g0013a0001c0001t0001g0053a0001c0001t0001g0058others(20): Show | 26 | 311 | 0.0836 | -12 | c.161 others(29): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
PKLR_chr1_155284293_155306438 | 155298953 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020a0001c0002t0002g0164a0001c0002t0002g0165others(2): Show | 7 | 311 | 0.0225 | -12 | c.283 others(29): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
PKMYT1_chr16_2967808_2985446 | 2983522 | TTAATAAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02630.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0020a0001c0001t0001g0039others(1): Show | 6 | 392 | 0.0153 | -12 | c.-35 others(23): Show |
PKMYT1 | ENSG00000127564.17 | transcript | ENST00000262300.13 | protein_coding | 3077 | chr16 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72209429 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01891.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0032a0001c0001t0001g0084a0001c0001t0001g0125others(2): Show | 5 | 370 | 0.0135 | -12 | c.565 others(27): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 5/10 | chr15 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72214794 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01891.hp1 others(43): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0009 | a0001c0001t0001a0001c0005t0001a0003c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0164others(34): Show | 46 | 370 | 0.1243 | -12 | c.246 others(29): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72227763 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | 370 | 0.0054 | -12 | c.-14 others(29): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72229918 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 370 | 0.0027 | -12 | c.-14 others(29): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72233447 | CAAATAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG02970.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0001 | a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0001g0175others(3): Show | 6 | 370 | 0.0162 | -12 | c.-23 others(23): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 2258 | chr15 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72233479 | TAAATAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01258.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0129others(7): Show | 11 | 370 | 0.0297 | -12 | c.-23 others(23): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 2290 | chr15 | TogoVar | ||||||
PKN1_chr19_14428306_14476859 | 14430397 | CCTCTCTC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(203): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0001c0007others(28): Show | a0001c0002t0001a0001c0004t0001a0001c0007t0001others(30): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0005others(198): Show | 206 | 376 | 0.5479 | -12 | c.-31 others(23): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 2908 | chr19 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88820180 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02083.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0257a0001c0001t0001g0264others(13): Show | 16 | 330 | 0.0485 | -12 | c.228 others(31): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKN2_chr1_88679273_88841255 | 88820223 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0128 | 1 | 330 | 0.0030 | -12 | c.228 others(31): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKN2_chr1_88679273_88841255 | 88820229 | TATATAAA others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0040 | 1 | 330 | 0.0030 | -12 | c.228 others(31): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42984974 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0039 | a0001c0002t0012g0292a0001c0002t0012g0356a0001c0002t0012g0357others(1): Show | 4 | 362 | 0.0111 | -12 | c.-57 others(31): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42987396 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 362 | 0.0028 | -12 | c.-57 others(31): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 43008061 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0211 | 1 | 362 | 0.0028 | -12 | c.179 others(27): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 43018470 | CCACCCAC others(5): Show |
C | intron_variant | MODIFIER | HG01928.hp2 NA18522.hp1 NA18966.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0067a0001c0001t0001g0132a0001c0001t0001g0144others(1): Show | 4 | 362 | 0.0111 | -12 | c.720 others(27): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 43030260 | AGTGTGTG others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01981.hp2 HG02004.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0035a0001c0001t0036 | a0001c0001t0015g0270a0001c0001t0015g0273a0001c0001t0015g0276others(2): Show | 5 | 362 | 0.0138 | -12 | c.*18 others(21): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 11/11 | 181 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
PKNOX1_chr21_42969562_43038931 | 43035875 | AAAATAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(59): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0004g0019a0001c0001t0004g0020a0001c0001t0004g0021others(58): Show | 62 | 362 | 0.1713 | -12 | c.*57 others(23): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1945 | chr21 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125175239 | GGAAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00673.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0094a0001c0001t0001g0111a0001c0001t0001g0112others(26): Show | 29 | 222 | 0.1306 | -12 | c.-20 others(33): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125189411 | ATATGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01952.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0068a0001c0001t0003g0025 | 2 | 222 | 0.0090 | -12 | c.-20 others(33): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125189441 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086 | 1 | 222 | 0.0045 | -12 | c.-20 others(33): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125214340 | GCTCTCCC others(5): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0173 | 1 | 222 | 0.0045 | -12 | c.-20 others(33): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125293791 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | NA18969.hp1 NA18971.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0003g0159 | 3 | 222 | 0.0135 | -12 | c.-12 others(33): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125411462 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0185a0001c0001t0007g0189 | 2 | 222 | 0.0090 | -12 | c.817 others(27): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP1_chr1_201278506_201337989 | 201285220 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02080.hp1 NA19079.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0027a0001c0002t0001g0200a0001c0002t0002g0201others(1): Show | 5 | 334 | 0.0150 | -12 | c.202 others(29): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKP1_chr1_201278506_201337989 | 201289688 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02109.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0009a0001c0011others(4): Show | a0001c0003t0003a0001c0003t0014a0001c0003t0037others(7): Show | a0001c0003t0003g0003a0001c0003t0003g0034a0001c0003t0003g0230others(14): Show | 24 | 334 | 0.0719 | -12 | c.203 others(29): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKP1_chr1_201278506_201337989 | 201337698 | CAGCTGTG others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 334 | 0.0030 | -12 | c.*76 others(23): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 4710 | chr1 | TogoVar | ||||||
PKP1_chr1_201278506_201337989 | 201337769 | TCACACAC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02896.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0003a0001c0005t0003 | a0001c0001t0001g0129a0001c0003t0003g0003a0001c0003t0003g0034others(2): Show | 10 | 334 | 0.0299 | -12 | c.*77 others(23): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 4781 | chr1 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32866550 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204a0001c0001t0002g0205 | 2 | 342 | 0.0059 | -12 | c.117 others(31): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32872833 | GGGCACTA others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0153a0001c0001t0005g0148a0001c0001t0005g0149others(1): Show | 4 | 342 | 0.0117 | -12 | c.103 others(31): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 3/12 | chr12 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32893911 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 342 | 0.0029 | -12 | c.223 others(29): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
PKP4_chr2_158451952_158686429 | 158495833 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(63): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0036others(63): Show | 66 | 308 | 0.2143 | -12 | c.-5- others(29): Show |
PKP4 | ENSG00000144283.23 | transcript | ENST00000389759.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PKP4_chr2_158451952_158686429 | 158530504 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp1 NA20129.hp1 NA20300.hp1 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0044a0001c0001t0001g0045a0007c0011t0001g0226 | 3 | 308 | 0.0097 | -12 | c.-5- others(27): Show |
PKP4 | ENSG00000144283.23 | transcript | ENST00000389759.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PKP4_chr2_158451952_158686429 | 158590312 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00639.hp1 others(28): Show |
a0001a0012 | a0001c0001a0001c0003a0012c0020 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0020others(27): Show | 31 | 308 | 0.1007 | -12 | c.246 others(31): Show |
PKP4 | ENSG00000144283.23 | transcript | ENST00000389759.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PKP4_chr2_158451952_158686429 | 158619933 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(123): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0008a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0138others(123): Show | 126 | 308 | 0.4091 | -12 | c.281 others(29): Show |
PKP4 | ENSG00000144283.23 | transcript | ENST00000389759.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PKP4_chr2_158451952_158686429 | 158646458 | GTCACAAT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | 308 | 0.0065 | -12 | c.190 others(31): Show |
PKP4 | ENSG00000144283.23 | transcript | ENST00000389759.8 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLA1A_chr3_119592885_119634811 | 119595100 | AAAATAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(115): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0101a0001c0001t0002g0029a0001c0001t0004g0321others(96): Show | 118 | 420 | 0.2810 | -12 | c.-28 others(23): Show |
PLA1A | ENSG00000144837.9 | transcript | ENST00000273371.9 | protein_coding | 2784 | chr3 | TogoVar | ||||||
PLA1A_chr3_119592885_119634811 | 119608202 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02976.hp1 HG03225.hp2 |
a0001a0009 | a0001c0012a0009c0017 | a0001c0012t0005a0001c0012t0006a0009c0017t0001 | a0001c0012t0005g0054a0001c0012t0006g0055a0009c0017t0001g0056 | 3 | 420 | 0.0071 | -12 | c.276 others(27): Show |
PLA1A | ENSG00000144837.9 | transcript | ENST00000273371.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLA1A_chr3_119592885_119634811 | 119608242 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 420 | 0.0024 | -12 | c.276 others(27): Show |
PLA1A | ENSG00000144837.9 | transcript | ENST00000273371.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLA1A_chr3_119592885_119634811 | 119622149 | GGAAGAAG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG02135.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0240a0001c0001t0003g0261others(5): Show | 8 | 420 | 0.0191 | -12 | c.101 others(31): Show |
PLA1A | ENSG00000144837.9 | transcript | ENST00000273371.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLA1A_chr3_119592885_119634811 | 119622199 | AAGAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02976.hp1 others(2): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0002t0006a0001c0012t0006others(1): Show | a0001c0001t0001g0070a0001c0002t0006g0081a0001c0002t0006g0159others(2): Show | 5 | 420 | 0.0119 | -12 | c.101 others(31): Show |
PLA1A | ENSG00000144837.9 | transcript | ENST00000273371.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |