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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPFIA2_chr12_81252975_81764350 | 81365976 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | 168 | 0.1845 | -12 | c.154 others(31): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 14/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81365984 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0124a0001c0002t0005g0004 | 2 | 168 | 0.0119 | -12 | c.154 others(31): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 14/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81380962 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0050a0001c0001t0001g0073a0001c0001t0001g0074others(18): Show | 21 | 168 | 0.1250 | -12 | c.984 others(29): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 9/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81386275 | TTAAATAA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02922.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0120a0001c0002t0007g0002 | 2 | 168 | 0.0119 | -12 | c.763 others(29): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 8/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81415177 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 168 | 0.0060 | -12 | c.646 others(29): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81415202 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 168 | 0.0060 | -12 | c.646 others(29): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81415204 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 NA19005.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0139a0001c0001t0001g0142a0001c0001t0002g0091 | 3 | 168 | 0.0179 | -12 | c.646 others(29): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81436279 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG02922.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0089a0001c0002t0001g0120a0001c0002t0007g0002 | 3 | 168 | 0.0179 | -12 | c.645 others(29): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81442848 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 168 | 0.0060 | -12 | c.570 others(29): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 6/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81533692 | AATCTATC others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 168 | 0.0060 | -12 | c.304 others(31): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81533727 | CTATCTAT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01069.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0053a0001c0001t0001g0119a0001c0001t0001g0123others(28): Show | 31 | 168 | 0.1845 | -12 | c.304 others(31): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81605650 | GCTATCTA others(5): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0077a0001c0001t0002g0043 | 2 | 168 | 0.0119 | -12 | c.303 others(31): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81637236 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 168 | 0.0060 | -12 | c.303 others(31): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81762257 | ATATATGT others(5): Show |
A | upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 168 | 0.0060 | -12 | c.-31 others(23): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 2908 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81762269 | GTATATAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01496.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0050others(33): Show | 36 | 168 | 0.2143 | -12 | c.-31 others(23): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 2920 | chr12 | TogoVar | ||||||
PPFIA4_chr1_203021491_203083736 | 203049636 | GGCCCCCA others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0006a0001c0002t0014a0001c0006t0003 | a0001c0002t0006g0292a0001c0002t0006g0311a0001c0002t0006g0319others(2): Show | 5 | 418 | 0.0120 | -12 | c.142 others(27): Show |
PPFIA4 | ENSG00000143847.16 | transcript | ENST00000295706.9 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27533926 | ACTCGTTA others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG01981.hp2 others(58): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0014a0001c0001t0001g0259a0001c0001t0001g0260others(58): Show | 61 | 314 | 0.1943 | -12 | c.-12 others(31): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27563277 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 314 | 0.0032 | -12 | c.-12 others(33): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27595882 | ACAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02630.hp2 HG03710.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0002 | a0001c0001t0006g0160a0001c0002t0001g0248a0001c0002t0002g0257 | 3 | 314 | 0.0096 | -12 | c.-36 others(31): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 2/29 | chr12 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27598538 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp2 HG01081.hp1 others(95): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0024a0001c0001t0001g0132a0001c0001t0001g0136others(95): Show | 98 | 314 | 0.3121 | -12 | c.-36 others(31): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27612926 | ACATCATC others(5): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02004.hp1 HG02922.hp1 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0001a0002c0003t0002a0003c0006t0007 | a0001c0001t0001g0237a0002c0003t0002g0089a0003c0006t0007g0085 | 3 | 314 | 0.0096 | -12 | c.-35 others(31): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27644244 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp1 others(97): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0024a0001c0001t0001g0040a0001c0001t0001g0053others(97): Show | 100 | 314 | 0.3185 | -12 | c.271 others(29): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27683764 | ATTTATTT others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 314 | 0.0032 | -12 | c.224 others(31): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP2_chr11_7508999_7658756 | 7577320 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02258.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0003others(3): Show | a0001c0001t0001g0284a0001c0002t0001g0282a0001c0004t0003g0181others(6): Show | 9 | 318 | 0.0283 | -12 | c.279 others(31): Show |
PPFIBP2 | ENSG00000166387.14 | transcript | ENST00000299492.9 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42378086 | CTTTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG02135.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099a0001c0001t0002g0100a0001c0001t0002g0212others(1): Show | 4 | 376 | 0.0106 | -12 | c.511 others(29): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42378090 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(51): Show | 54 | 376 | 0.1436 | -12 | c.511 others(29): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42413524 | ATATGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 376 | 0.0027 | -12 | c.909 others(31): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42413526 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00639.hp1 others(58): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0115a0001c0001t0001g0124a0001c0001t0001g0125others(58): Show | 61 | 376 | 0.1622 | -12 | c.909 others(31): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42417931 | TGTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01106.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0124a0001c0001t0001g0127a0001c0001t0001g0132others(19): Show | 22 | 376 | 0.0585 | -12 | c.909 others(31): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42426172 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02280.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0186a0001c0001t0001g0200a0001c0001t0001g0227others(5): Show | 8 | 376 | 0.0213 | -12 | c.910 others(31): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPIAL4A_chr1_120884771_120895530 | 120889503 | AAAGAAAG others(5): Show |
A | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 280 | 0.0036 | -12 | c.-31 others(21): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 267 | chr1 | TogoVar | ||||||
PPIAL4C_chr1_149578848_149589607 | 149583467 | GAAGAAAG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02698.hp2 HG03669.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 448 | 0.0179 | -12 | c.-43 others(21): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 380 | chr1 | TogoVar | ||||||
PPIAL4C_chr1_149578848_149589607 | 149583519 | AAAGAAAG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01168.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 14 | 448 | 0.0313 | -12 | c.-37 others(21): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 328 | chr1 | TogoVar | ||||||
PPIAL4C_chr1_149578848_149589607 | 149583523 | AAAGAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01074.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000a0002c0002t0002g0000 | 14 | 448 | 0.0313 | -12 | c.-37 others(21): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 324 | chr1 | TogoVar | ||||||
PPIAL4C_chr1_149578848_149589607 | 149583527 | AAAAGAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01943.hp2 HG03471.hp2 NA18939.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 448 | 0.0156 | -12 | c.-37 others(21): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 320 | chr1 | TogoVar | ||||||
PPIAL4D_chr1_145236415_145247174 | 145242426 | ATTTCTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 396 | 0.0025 | -12 | c.-31 others(21): Show |
PPIAL4D | ENSG00000289549.1 | transcript | ENST00000544708.3 | protein_coding | 253 | chr1 | TogoVar | ||||||
PPIAL4G_chr1_148477548_148488302 | 148483555 | ATTTCTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp2 NA18612.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 450 | 0.0067 | -12 | c.-31 others(21): Show |
PPIAL4G | ENSG00000236334.3 | transcript | ENST00000419275.3 | protein_coding | 254 | chr1 | TogoVar | ||||||
PPIAL4H_chr1_146339006_146349765 | 146345018 | ATTTCTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(73): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0015t0001others(3): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0015t0001g0000others(3): Show | 76 | 416 | 0.1827 | -12 | c.-31 others(21): Show |
PPIAL4H | ENSG00000270339.4 | transcript | ENST00000584068.4 | protein_coding | 254 | chr1 | TogoVar | ||||||
PPIA_chr7_44791681_44808117 | 44793769 | GGCCTCCC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | -12 | c.-29 others(23): Show |
PPIA | ENSG00000196262.15 | transcript | ENST00000468812.6 | protein_coding | 2911 | chr7 | TogoVar | ||||||
PPID_chr4_158704127_158728396 | 158724312 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 2 | 348 | 0.0058 | -12 | c.-10 others(23): Show |
PPID | ENSG00000171497.5 | transcript | ENST00000307720.4 | protein_coding | 917 | chr4 | TogoVar | ||||||
PPIE_chr1_39733882_39761769 | 39747455 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0007a0002c0004t0007 | a0001c0001t0007g0037a0002c0004t0007g0037 | 2 | 434 | 0.0046 | -12 | c.509 others(29): Show |
PPIE | ENSG00000084072.17 | transcript | ENST00000324379.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PPIF_chr10_79342469_79360334 | 79353222 | CTTCGCTG others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0025 | 2 | 408 | 0.0049 | -12 | c.489 others(27): Show |
PPIF | ENSG00000108179.14 | transcript | ENST00000225174.8 | protein_coding | 5/5 | chr10 | TogoVar | ||||||
PPIF_chr10_79342469_79360334 | 79358076 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG02145.hp2 HG02647.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0022 | a0001c0002t0005g0006a0001c0002t0005g0019a0001c0002t0005g0028others(2): Show | 11 | 408 | 0.0270 | -12 | c.*42 others(23): Show |
PPIF | ENSG00000108179.14 | transcript | ENST00000225174.8 | protein_coding | 2743 | chr10 | TogoVar | ||||||
PPIG_chr2_169579351_169646406 | 169597855 | CTTGTTTG others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG02145.hp1 HG02615.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0007a0003c0003t0004 | a0001c0001t0007g0009a0001c0001t0007g0091a0001c0001t0007g0092others(3): Show | 7 | 382 | 0.0183 | -12 | c.-69 others(29): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPIG_chr2_169579351_169646406 | 169624160 | TCTCGCTA others(5): Show |
T | intron_variant | MODIFIER | HG03654.hp1 NA19003.hp1 |
a0005 | a0005c0006 | a0005c0006t0018 | a0005c0006t0018g0109a0005c0006t0018g0114 | 2 | 382 | 0.0052 | -12 | c.548 others(29): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPIG_chr2_169579351_169646406 | 169628939 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(98): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006others(91): Show | 101 | 382 | 0.2644 | -12 | c.548 others(29): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPIL2_chr22_21661012_21702907 | 21663189 | GTAATAAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(118): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0016others(104): Show | 121 | 378 | 0.3201 | -12 | c.-29 others(23): Show |
PPIL2 | ENSG00000100023.20 | transcript | ENST00000398831.8 | protein_coding | 2822 | chr22 | TogoVar | ||||||
PPIL2_chr22_21661012_21702907 | 21664525 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18979.hp2 NA19003.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0291a0001c0001t0004g0309a0001c0001t0018g0301 | 3 | 378 | 0.0079 | -12 | c.-15 others(23): Show |
PPIL2 | ENSG00000100023.20 | transcript | ENST00000398831.8 | protein_coding | 1486 | chr22 | TogoVar | ||||||
PPIL2_chr22_21661012_21702907 | 21676243 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0039 | 1 | 378 | 0.0027 | -12 | c.295 others(29): Show |
PPIL2 | ENSG00000100023.20 | transcript | ENST00000398831.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPIL2_chr22_21661012_21702907 | 21699170 | AGGGCTGA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp2 |
a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0207a0001c0005t0012g0208 | 2 | 378 | 0.0053 | -12 | c.*36 others(23): Show |
PPIL2 | ENSG00000100023.20 | transcript | ENST00000398831.8 | protein_coding | 1264 | chr22 | TogoVar |