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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDYL2_chr16_80592907_80809598 | 80618260 | CCAGTTTG others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01109.hp1 others(25): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0072a0001c0003t0002a0001c0003t0004others(10): Show | a0001c0002t0072g0257a0001c0003t0002g0043a0001c0003t0002g0107others(25): Show | 28 | 258 | 0.1085 | -12 | c.100 others(31): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80659051 | TGATGGAT others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp2 HG01261.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(12): Show | a0001c0001t0001g0009a0001c0001t0011g0048a0001c0001t0012g0011others(14): Show | 17 | 258 | 0.0659 | -12 | c.616 others(31): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80676961 | GTATTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0139 | 1 | 258 | 0.0039 | -12 | c.616 others(29): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80711989 | ATGTATAT others(5): Show |
A | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0150 | 1 | 258 | 0.0039 | -12 | c.25- others(29): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80712111 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG03471.hp1 NA19030.hp1 |
a0001 | a0001c0005 | a0001c0005t0002a0001c0005t0011 | a0001c0005t0002g0242a0001c0005t0011g0066a0001c0005t0011g0235 | 3 | 258 | 0.0116 | -12 | c.25- others(29): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80748122 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01243.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(17): Show | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0005g0226others(23): Show | 26 | 258 | 0.1008 | -12 | c.24+ others(29): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80748506 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02895.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0004 | a0001c0001t0018g0114a0001c0002t0004g0014 | 2 | 258 | 0.0078 | -12 | c.24+ others(29): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80759102 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0039a0001c0005t0014 | a0001c0002t0039g0229a0001c0005t0014g0228 | 2 | 258 | 0.0078 | -12 | c.24+ others(29): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4815673 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 250 | 0.0040 | -12 | c.24+ others(29): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDYL_chr6_4771404_4960544 | 4819116 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG03540.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068a0001c0001t0002g0086a0001c0001t0002g0242 | 3 | 250 | 0.0120 | -12 | c.24+ others(29): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDYL_chr6_4771404_4960544 | 4819154 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 250 | 0.0040 | -12 | c.24+ others(29): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDYL_chr6_4771404_4960544 | 4900779 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01106.hp1 NA18951.hp1 NA18991.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0078others(2): Show | 5 | 250 | 0.0200 | -12 | c.691 others(29): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEACAM18_chr19_51473539_51496301 | 51495343 | GGATGGAT others(5): Show |
G | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0006 | a0006c0007 | a0006c0007t0013 | a0006c0007t0013g0047 | 1 | 420 | 0.0024 | -12 | c.*46 others(23): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 4043 | chr19 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668688 | ATATATTA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02602.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0005a0001c0001t0004g0021a0001c0001t0004g0051others(8): Show | 24 | 390 | 0.0615 | -12 | c.-32 others(23): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2793 | chr19 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668747 | AATATAAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01106.hp2 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010a0002c0002t0001g0018a0002c0002t0001g0042others(4): Show | 18 | 390 | 0.0462 | -12 | c.-31 others(23): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2734 | chr19 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668754 | TATAATAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0071 | 1 | 390 | 0.0026 | -12 | c.-31 others(23): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2727 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44510547 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01978.hp1 NA18952.hp1 others(2): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0086a0007c0008t0001g0097a0007c0008t0001g0101others(2): Show | 5 | 438 | 0.0114 | -12 | c.173 others(29): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 11/11 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44518103 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01074.hp2 others(8): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0015a0004c0003others(2): Show | a0002c0002t0001a0003c0015t0001a0004c0003t0001others(3): Show | a0002c0002t0001g0235a0002c0002t0001g0261a0002c0002t0001g0262others(8): Show | 11 | 438 | 0.0251 | -12 | c.103 others(29): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532499 | AAAAGAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02738.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0302 | 1 | 438 | 0.0023 | -12 | c.-30 others(23): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2825 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532553 | GAAGAAAG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001a0007 | a0001c0018a0007c0008 | a0001c0018t0001a0007c0008t0001 | a0001c0018t0001g0192a0001c0018t0001g0193a0001c0018t0001g0194others(2): Show | 5 | 438 | 0.0114 | -12 | c.-30 others(23): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2879 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532565 | AAAAGAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01168.hp1 others(21): Show |
a0002a0003a0004others(5): Show | a0002c0002a0003c0004a0003c0015others(6): Show | a0002c0002t0001a0003c0004t0001a0003c0015t0001others(6): Show | a0002c0002t0001g0237a0002c0002t0001g0242a0002c0002t0001g0248others(21): Show | 24 | 438 | 0.0548 | -12 | c.-30 others(23): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2891 | chr19 | TogoVar | ||||||
CEACAM3_chr19_41791587_41816554 | 41803416 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 NA18612.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 5 | 416 | 0.0120 | -12 | c.425 others(29): Show |
CEACAM3 | ENSG00000170956.17 | transcript | ENST00000357396.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CEACAM3_chr19_41791587_41816554 | 41805999 | TTGTTGTT others(5): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0159 | 1 | 416 | 0.0024 | -12 | c.425 others(29): Show |
CEACAM3 | ENSG00000170956.17 | transcript | ENST00000357396.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CEACAM4_chr19_41614015_41632074 | 41616487 | TGATAGAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(99): Show | 141 | 437 | 0.3227 | -12 | c.*28 others(23): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 2527 | chr19 | TogoVar | ||||||
CEACAM4_chr19_41614015_41632074 | 41622853 | TATAGATA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02976.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0002c0003t0001 | a0001c0002t0004g0264a0002c0003t0001g0177a0002c0003t0001g0191others(2): Show | 5 | 437 | 0.0114 | -12 | c.425 others(29): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
CEACAM4_chr19_41614015_41632074 | 41626063 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01123.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0031a0001c0001t0001g0124a0001c0001t0002g0077others(23): Show | 30 | 437 | 0.0687 | -12 | c.65- others(25): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
CEACAM7_chr19_41668303_41693270 | 41678310 | CATGTATA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01099.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0024a0001c0001t0001g0026others(19): Show | 39 | 412 | 0.0947 | -12 | c.707 others(27): Show |
CEACAM7 | ENSG00000007306.15 | transcript | ENST00000401731.6 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
CEACAM7_chr19_41668303_41693270 | 41679968 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050a0001c0001t0004g0170a0001c0001t0004g0171 | 4 | 412 | 0.0097 | -12 | c.707 others(29): Show |
CEACAM7 | ENSG00000007306.15 | transcript | ENST00000401731.6 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
CEACAM8_chr19_42575243_42599924 | 42581914 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 314 | 0.0032 | -12 | c.*41 others(27): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
CEACAM8_chr19_42575243_42599924 | 42598233 | CACACACA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG04228.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0148a0002c0002t0002g0155 | 2 | 314 | 0.0064 | -12 | c.-34 others(23): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 3310 | chr19 | TogoVar | ||||||
CEBPD_chr8_47731913_47743164 | 47738665 | CCCTCGCC others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0000 | 1 | 316 | 0.0032 | -12 | c.-55 others(21): Show |
CEBPD | ENSG00000221869.5 | transcript | ENST00000408965.4 | protein_coding | 502 | chr8 | TogoVar | ||||||
CEBPD_chr8_47731913_47743164 | 47740915 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01099.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 11 | 316 | 0.0348 | -12 | c.-28 others(23): Show |
CEBPD | ENSG00000221869.5 | transcript | ENST00000408965.4 | protein_coding | 2752 | chr8 | TogoVar | ||||||
CEBPE_chr14_23112306_23124255 | 23117248 | GACACACA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG02056.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 17 | 458 | 0.0371 | -12 | c.*22 others(21): Show |
CEBPE | ENSG00000092067.7 | transcript | ENST00000206513.6 | protein_coding | 57 | chr14 | TogoVar | ||||||
CEBPG_chr19_33368709_33387686 | 33385053 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 | 1 | 436 | 0.0023 | -12 | c.*53 others(23): Show |
CEBPG | ENSG00000153879.9 | transcript | ENST00000284000.9 | protein_coding | 2368 | chr19 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37193573 | AAAGAAGA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01975.hp1 HG02155.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0019others(2): Show | a0001c0001t0002g0002a0001c0001t0007g0002a0001c0001t0007g0029others(3): Show | 13 | 466 | 0.0279 | -12 | c.-29 others(23): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2922 | chr2 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37193597 | AAAGAAGA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG02040.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(4): Show | a0001c0001t0003g0006a0001c0001t0004g0006a0001c0001t0004g0007others(5): Show | 15 | 466 | 0.0322 | -12 | c.-29 others(23): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2898 | chr2 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37194897 | TTTCCTTC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01192.hp2 HG01934.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0002g0002a0001c0001t0007g0002a0001c0001t0009g0002others(9): Show | 34 | 466 | 0.0730 | -12 | c.-16 others(23): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1598 | chr2 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37202644 | CAAAAAAA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG02723.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0054 | a0001c0001t0015g0003a0001c0001t0054g0004 | 6 | 466 | 0.0129 | -12 | c.*82 others(21): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 5/5 | 957 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CEBPZ_chr2_37196612_37236596 | 37202644 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02723.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0065a0001c0004t0001g0030a0001c0004t0001g0073others(2): Show | 6 | 438 | 0.0137 | -12 | c.302 others(29): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 15/15 | chr2 | TogoVar | ||||||
CEBPZ_chr2_37196612_37236596 | 37225039 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071a0001c0004t0001g0072 | 2 | 438 | 0.0046 | -12 | c.165 others(31): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17379581 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0069 | a0001c0001t0009g0187a0001c0001t0069g0265 | 2 | 324 | 0.0062 | -12 | c.126 others(29): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17409964 | CTATTTAT others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 NA18952.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002a0002c0002t0003 | a0001c0001t0003g0037a0002c0002t0002g0036a0002c0002t0003g0077 | 3 | 324 | 0.0093 | -12 | c.126 others(31): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17445543 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG02071.hp2 HG02965.hp1 |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0048a0002c0002t0006 | a0001c0001t0001g0156a0001c0009t0048g0273a0002c0002t0006g0004 | 3 | 324 | 0.0093 | -12 | c.127 others(31): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17482115 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(85): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0013a0001c0017others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0035a0001c0001t0001g0046a0001c0001t0001g0103others(85): Show | 88 | 324 | 0.2716 | -12 | c.221 others(29): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17525285 | CCAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 324 | 0.0031 | -12 | c.110 others(31): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17532700 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0198a0001c0001t0010g0270a0001c0001t0010g0271 | 3 | 324 | 0.0093 | -12 | c.110 others(31): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CELA1_chr12_51323442_51351679 | 51324943 | CAAATAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0011a0002c0003t0002g0094 | 7 | 406 | 0.0172 | -12 | c.*36 others(23): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 3498 | chr12 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51338277 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 406 | 0.0025 | -12 | c.609 others(29): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 6/7 | chr12 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51347995 | AAAATAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp1 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0013a0002c0002t0002g0038 | 2 | 406 | 0.0049 | -12 | c.-13 others(23): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1317 | chr12 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15455132 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18975.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 430 | 0.0047 | -12 | c.-16 others(23): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 1599 | chr1 | TogoVar |