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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENPP7_chr17_79725943_79747219 | 79746242 | CAGAAAAG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0027 | 1 | 430 | 0.0023 | -10 | c.*44 others(21): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 4024 | chr17 | TogoVar | ||||||
ENSA_chr1_150617125_150634612 | 150631474 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02074.hp1 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | 422 | 0.0047 | -10 | c.-20 others(21): Show |
ENSA | ENSG00000143420.19 | transcript | ENST00000369014.10 | protein_coding | 1863 | chr1 | TogoVar | ||||||
ENTHD1_chr22_39738044_39898760 | 39744527 | TTCATCTT others(3): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00738.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0154a0001c0001t0002g0155a0001c0001t0002g0156others(25): Show | 28 | 218 | 0.1284 | -10 | c.122 others(27): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 6/6 | chr22 | TogoVar | ||||||
ENTHD1_chr22_39738044_39898760 | 39756308 | TCTCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0093a0001c0004t0001g0094 | 2 | 218 | 0.0092 | -10 | c.121 others(29): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 6/6 | chr22 | TogoVar | ||||||
ENTHD1_chr22_39738044_39898760 | 39767462 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0015 | 1 | 218 | 0.0046 | -10 | c.833 others(27): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
ENTHD1_chr22_39738044_39898760 | 39888260 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0093a0001c0004t0001g0094 | 2 | 218 | 0.0092 | -10 | c.-15 others(27): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 1/6 | chr22 | TogoVar | ||||||
ENTPD1_chr10_95751163_95882266 | 95760814 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01361.hp1 HG01884.hp2 others(46): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(42): Show | 49 | 340 | 0.1441 | -10 | c.16+ others(25): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTPD3_chr3_40382184_40433744 | 40385959 | GCACACAC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0063a0001c0001t0007g0153a0001c0001t0007g0164 | 3 | 374 | 0.0080 | -10 | c.-13 others(21): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 1224 | chr3 | TogoVar | ||||||
ENTPD3_chr3_40382184_40433744 | 40388575 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG02735.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0084a0002c0002t0002g0019a0002c0002t0002g0074others(10): Show | 14 | 374 | 0.0374 | -10 | c.40+ others(23): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ENTPD3_chr3_40382184_40433744 | 40388585 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG03209.hp1 NA18941.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0280a0001c0001t0001g0281a0001c0001t0001g0282others(5): Show | 8 | 374 | 0.0214 | -10 | c.40+ others(23): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ENTPD3_chr3_40382184_40433744 | 40394048 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 374 | 0.0027 | -10 | c.168 others(27): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ENTPD4_chr8_23424162_23462647 | 23424928 | GCATTATA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(138): Show |
a0001a0004a0009others(2): Show | a0001c0001a0001c0003a0004c0007others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0031others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0012others(54): Show | 141 | 412 | 0.3422 | -10 | c.*79 others(21): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 4233 | chr8 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 73967799 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18941.hp2 NA18950.hp1 NA19080.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0287a0001c0002t0002g0329a0001c0002t0002g0330 | 3 | 380 | 0.0079 | -10 | c.120 others(27): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 15/15 | chr14 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 73971774 | GCTTTAGG others(3): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022 | a0001c0001t0011g0131a0001c0001t0011g0132a0001c0001t0011g0133others(4): Show | 7 | 380 | 0.0184 | -10 | c.108 others(25): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 14/15 | chr14 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 74001666 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0158a0001c0001t0005g0041a0001c0001t0007g0053others(43): Show | 49 | 380 | 0.1290 | -10 | c.-71 others(27): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 74006892 | AAAAGTCA others(3): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 380 | 0.0026 | -10 | c.-71 others(27): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | ||||||
ENTPD6_chr20_25190712_25233075 | 25220848 | ATGGTGGC others(3): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0123a0001c0001t0014g0201 | 2 | 380 | 0.0053 | -10 | c.944 others(25): Show |
ENTPD6 | ENSG00000197586.13 | transcript | ENST00000376652.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ENTPD7_chr10_99654509_99716241 | 99660526 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0032 | a0001c0001t0002g0227a0001c0001t0015g0028a0001c0001t0032g0176 | 4 | 408 | 0.0098 | -10 | c.8+5 others(21): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTPD7_chr10_99654509_99716241 | 99686353 | TAATTCCC others(3): Show |
T | intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 408 | 0.0025 | -10 | c.652 others(25): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTPD7_chr10_99654509_99716241 | 99700404 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02818.hp1 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0091a0001c0001t0002g0194a0001c0001t0002g0198others(1): Show | 4 | 408 | 0.0098 | -10 | c.133 others(27): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTREP1_chr9_69320215_69397456 | 69325273 | GCCGGCCG others(3): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(265): Show | 287 | 342 | 0.8392 | -10 | c.-24 others(17): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 1/11 | 15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
ENTREP1_chr9_69320215_69397456 | 69367852 | TATATACA others(3): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG02258.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0054a0001c0001t0001g0089 | 3 | 342 | 0.0088 | -10 | c.472 others(27): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ENTREP1_chr9_69320215_69397456 | 69367888 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | NA19002.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074a0001c0001t0002g0076 | 2 | 342 | 0.0059 | -10 | c.472 others(27): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ENTREP2_chr15_29115252_29575979 | 29219614 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0012 | a0002c0012t0009 | a0002c0012t0009g0061 | 1 | 125 | 0.0080 | -10 | c.388 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29343576 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG03486.hp2 HG06807.hp2 |
a0002 | a0002c0004a0002c0005 | a0002c0004t0003a0002c0004t0015a0002c0005t0020 | a0002c0004t0003g0111a0002c0004t0015g0007a0002c0005t0020g0028 | 3 | 125 | 0.0240 | -10 | c.276 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29356268 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 NA19043.hp1 |
a0002a0003 | a0002c0009a0003c0006a0003c0007 | a0002c0009t0003a0003c0006t0001a0003c0007t0050 | a0002c0009t0003g0077a0003c0006t0001g0108a0003c0007t0050g0125 | 3 | 125 | 0.0240 | -10 | c.276 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29356296 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0005 | a0002c0005t0020 | a0002c0005t0020g0028 | 1 | 125 | 0.0080 | -10 | c.276 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29379452 | CCCCTTCT others(3): Show |
C | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0039 | a0001c0039t0038 | a0001c0039t0038g0049 | 1 | 125 | 0.0080 | -10 | c.276 others(27): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29391635 | GGGCCTGC others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02630.hp1 others(1): Show |
a0001a0002a0003 | a0001c0008a0002c0009a0003c0006others(1): Show | a0001c0008t0036a0002c0009t0003a0003c0006t0039others(1): Show | a0001c0008t0036g0045a0002c0009t0003g0050a0003c0006t0039g0105others(1): Show | 4 | 125 | 0.0320 | -10 | c.220 others(27): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29394878 | ATCTCTTT others(3): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01109.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0003a0002c0004others(6): Show | a0001c0002t0001a0002c0003t0013a0002c0004t0003others(7): Show | a0001c0002t0001g0054a0001c0002t0001g0055a0002c0003t0013g0017others(8): Show | 11 | 125 | 0.0880 | -10 | c.220 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29439284 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0005 | a0002c0005t0026 | a0002c0005t0026g0011 | 1 | 125 | 0.0080 | -10 | c.220 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29439324 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01169.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0016others(5): Show | a0001c0001t0001g0042a0001c0001t0001g0098a0001c0002t0001g0036others(6): Show | 9 | 125 | 0.0720 | -10 | c.220 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29472464 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0012 | a0002c0012t0009 | a0002c0012t0009g0092 | 1 | 125 | 0.0080 | -10 | c.220 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29478013 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02257.hp1 others(4): Show |
a0001a0003a0007 | a0001c0002a0001c0010a0003c0006others(2): Show | a0001c0002t0001a0001c0010t0001a0003c0006t0001others(3): Show | a0001c0002t0001g0054a0001c0002t0001g0055a0001c0010t0001g0088others(4): Show | 7 | 125 | 0.0560 | -10 | c.219 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29480338 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03453.hp1 |
a0001a0002 | a0001c0008a0002c0005 | a0001c0008t0007a0002c0005t0005 | a0001c0008t0007g0064a0002c0005t0005g0095 | 2 | 125 | 0.0160 | -10 | c.219 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29516968 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0016 | a0005c0016t0006 | a0005c0016t0006g0032 | 1 | 125 | 0.0080 | -10 | c.219 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29518199 | TCAAAACA others(3): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03453.hp1 |
a0001a0002 | a0001c0008a0002c0005 | a0001c0008t0007a0002c0005t0005 | a0001c0008t0007g0064a0002c0005t0005g0095 | 2 | 125 | 0.0160 | -10 | c.219 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29534106 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0004 | a0004c0013 | a0004c0013t0024 | a0004c0013t0024g0010 | 1 | 125 | 0.0080 | -10 | c.219 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29546894 | AAAACAAC others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00741.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0004a0001c0002t0001a0002c0003t0032others(6): Show | a0001c0001t0004g0024a0001c0001t0004g0026a0001c0002t0001g0041others(8): Show | 11 | 125 | 0.0880 | -10 | c.219 others(29): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29561761 | CTTGGCAA others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03453.hp1 NA19043.hp2 |
a0001a0002a0003 | a0001c0008a0002c0003a0003c0006 | a0001c0008t0007a0002c0003t0005a0003c0006t0002 | a0001c0008t0007g0064a0002c0003t0005g0063a0003c0006t0002g0065 | 3 | 125 | 0.0240 | -10 | c.219 others(27): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP3_chr1_155242205_155260483 | 155244815 | CGAGCGAG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03225.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0113 | 3 | 395 | 0.0076 | -10 | c.*29 others(21): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 2389 | chr1 | TogoVar | ||||||
ENTREP3_chr1_155242205_155260483 | 155257533 | AAAGGAGC others(3): Show |
A | upstream_gene_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010 | 1 | 395 | 0.0025 | -10 | c.-26 others(21): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 2051 | chr1 | TogoVar | ||||||
ENY2_chr8_109329347_109350954 | 109330069 | GAAACATA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -10 | c.-43 others(21): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 4277 | chr8 | TogoVar | ||||||
ENY2_chr8_109329347_109350954 | 109349396 | GTTATATA others(3): Show |
G | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 428 | 0.0023 | -10 | c.*59 others(21): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 3443 | chr8 | TogoVar | ||||||
EOLA1_chrX_149536012_149553331 | 149547256 | CTAATTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0004 | 1 | 315 | 0.0032 | -10 | c.*29 others(19): Show |
EOLA1 | ENSG00000197620.11 | transcript | ENST00000393985.8 | protein_coding | 5/5 | 295 | chrX | TogoVar | |||||
EOLA2_chrX_149927197_149943491 | 149931804 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18984.hp1 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0051 | 1 | 331 | 0.0030 | -10 | c.*73 others(19): Show |
EOLA2 | ENSG00000197021.9 | transcript | ENST00000370406.8 | protein_coding | 392 | chrX | TogoVar | ||||||
EOMES_chr3_27710953_27727323 | 27720531 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0050 | 1 | 400 | 0.0025 | -10 | c.882 others(25): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41110282 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01993.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0027a0001c0002t0030others(3): Show | a0001c0002t0001g0103a0001c0002t0027g0116a0001c0002t0030g0060others(3): Show | 6 | 300 | 0.0200 | -10 | c.95- others(25): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41125844 | CTTTTGTT others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(37): Show |
a0001a0007 | a0001c0002a0001c0004a0001c0013others(1): Show | a0001c0002t0005a0001c0004t0002a0001c0004t0003others(15): Show | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0004t0002g0033others(37): Show | 40 | 300 | 0.1333 | -10 | c.730 others(22): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EP300_chr22_41087592_41185077 | 41126729 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0286a0001c0001t0007g0287 | 2 | 300 | 0.0067 | -10 | c.906 others(25): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |