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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ME3_chr11_86436108_86677616 | 86521399 | ACAAACAA others(17): Show |
A | intron_variant | MODIFIER | HG03654.hp2 NA18948.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0181a0001c0006t0001g0107 | 2 | 320 | 0.0063 | -24 | c.468 others(43): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 4/14 | chr11 | TogoVar | ||||||
MEAK7_chr16_84471355_84509659 | 84504418 | CCACCCCT others(17): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02155.hp1 NA18612.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0223a0001c0002t0001a0001c0002t0002 | a0001c0001t0223g0442a0001c0002t0001g0440a0001c0002t0002g0441 | 3 | 468 | 0.0064 | -24 | c.-26 others(39): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169183757 | TACATACA others(17): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0075 | 1 | 160 | 0.0063 | -24 | c.376 others(43): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169183799 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0024 | 1 | 160 | 0.0063 | -24 | c.376 others(43): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169183801 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0056a0001c0001t0007g0134 | 2 | 160 | 0.0125 | -24 | c.376 others(43): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169186378 | AAGGGAGG others(17): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01433.hp1 HG02257.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0049a0001c0001t0003g0032a0001c0001t0006g0116others(11): Show | 14 | 160 | 0.0875 | -24 | c.376 others(43): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169212633 | AATGTATA others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02717.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0058a0001c0001t0002g0083a0001c0001t0002g0084others(12): Show | 15 | 160 | 0.0938 | -24 | c.376 others(43): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169263077 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG02056.hp1 HG03834.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0016others(5): Show | a0001c0001t0005g0101a0001c0001t0010g0085a0001c0001t0016g0064others(5): Show | 8 | 160 | 0.0500 | -24 | c.375 others(45): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169378446 | AAAGAAGG others(17): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0024 | 1 | 160 | 0.0063 | -24 | c.375 others(41): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169378450 | AAGGAAAG others(17): Show |
A | intron_variant | MODIFIER | NA18941.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0084a0001c0001t0004g0067 | 2 | 160 | 0.0125 | -24 | c.375 others(41): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169433639 | GAGAAAGA others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01361.hp2 others(17): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0009a0001c0003t0001a0002c0002t0001others(14): Show | a0001c0001t0009g0139a0001c0003t0001g0051a0002c0002t0001g0046others(17): Show | 20 | 160 | 0.1250 | -24 | c.38- others(41): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169477095 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0064 | 1 | 160 | 0.0063 | -24 | c.38- others(41): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECP2_chrX_154016573_154102717 | 154037163 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016a0001c0001t0022 | a0001c0001t0008g0107a0001c0001t0016g0098a0001c0001t0016g0099others(2): Show | 5 | 230 | 0.0217 | -24 | c.27- others(39): Show |
MECP2 | ENSG00000169057.25 | transcript | ENST00000303391.11 | protein_coding | 2/3 | chrX | TogoVar | ||||||
MECP2_chrX_154016573_154102717 | 154057105 | TCTCTTTG others(17): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0014a0001c0001t0021a0001c0011t0014 | a0001c0001t0014g0053a0001c0001t0014g0094a0001c0001t0021g0055others(2): Show | 5 | 230 | 0.0217 | -24 | c.27- others(41): Show |
MECP2 | ENSG00000169057.25 | transcript | ENST00000303391.11 | protein_coding | 2/3 | chrX | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151106265 | CTTTCCCT others(17): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0039 | 1 | 280 | 0.0036 | -24 | c.100 others(43): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151307533 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0008 | a0001c0008t0028 | a0001c0008t0028g0014 | 1 | 280 | 0.0036 | -24 | c.225 others(45): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151320518 | ATAGTCAG others(17): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0179 | 1 | 280 | 0.0036 | -24 | c.225 others(45): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED13L_chr12_115953576_116282693 | 116031739 | AGAAAAGA others(17): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG02165.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0092a0001c0001t0003g0009a0001c0004t0001g0067 | 3 | 254 | 0.0118 | -24 | c.480 others(41): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | ||||||
MED13_chr17_61937605_62070278 | 62015936 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0322 | 1 | 326 | 0.0031 | -24 | c.128 others(43): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 8/29 | chr17 | TogoVar | ||||||
MED29_chr19_39386378_39405641 | 39393072 | CTTTCTTT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00735.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0002g0142a0001c0001t0002g0164a0001c0001t0004g0018others(9): Show | 22 | 388 | 0.0567 | -24 | c.276 others(39): Show |
MED29 | ENSG00000063322.15 | transcript | ENST00000315588.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MED6_chr14_70578221_70605655 | 70588688 | AAATAATA others(17): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01069.hp1 others(30): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0003g0005a0001c0001t0003g0017a0001c0001t0003g0038others(9): Show | 33 | 406 | 0.0813 | -24 | c.582 others(41): Show |
MED6 | ENSG00000133997.12 | transcript | ENST00000256379.10 | protein_coding | 6/7 | chr14 | TogoVar | ||||||
MED7_chr5_157132424_157147865 | 157140071 | CAATCTCA others(17): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 386 | 0.0026 | -24 | c.-17 others(39): Show |
MED7 | ENSG00000155868.8 | transcript | ENST00000286317.6 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
MEF2A_chr15_99560984_99721488 | 99601807 | TTGTGTGT others(17): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0124 | a0001c0001t0124g0371 | 1 | 376 | 0.0027 | -24 | c.-14 others(43): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MEGF10_chr5_127285796_127466222 | 127391094 | GCGCGCGC others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0002a0001c0015a0001c0017others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0015t0003others(2): Show | a0001c0002t0002g0041a0001c0002t0002g0042a0001c0002t0002g0043others(12): Show | 15 | 268 | 0.0560 | -24 | c.413 others(41): Show |
MEGF10 | ENSG00000145794.17 | transcript | ENST00000503335.7 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MEGF11_chr15_65890299_66258750 | 65950584 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02976.hp2 |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0003 | a0005c0006t0001g0030a0005c0006t0003g0007 | 2 | 176 | 0.0114 | -24 | c.128 others(43): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 10/25 | chr15 | TogoVar | ||||||
MEGF11_chr15_65890299_66258750 | 66008407 | GCGCGCAC others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp2 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0044others(55): Show | 58 | 176 | 0.3296 | -24 | c.395 others(43): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 5/25 | chr15 | TogoVar | ||||||
MEGF11_chr15_65890299_66258750 | 66020991 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02258.hp1 others(5): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0009others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0085a0001c0001t0001g0144others(5): Show | 8 | 176 | 0.0455 | -24 | c.395 others(43): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 5/25 | chr15 | TogoVar | ||||||
MEGF11_chr15_65890299_66258750 | 66141269 | TGTGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03453.hp1 HG03486.hp1 others(1): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0002a0002c0002t0006a0008c0009t0001 | a0002c0002t0002g0162a0002c0002t0006g0091a0008c0009t0001g0003others(1): Show | 4 | 176 | 0.0227 | -24 | c.-8- others(41): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 1/25 | chr15 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3545555 | CCCCTCCT others(17): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA19043.hp2 |
a0021 | a0021c0022 | a0021c0022t0012a0021c0022t0037 | a0021c0022t0012g0254a0021c0022t0037g0004 | 2 | 292 | 0.0069 | -24 | c.482 others(43): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 4/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583756 | ACAGCCAC others(17): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0024 | a0024c0030 | a0024c0030t0030 | a0024c0030t0030g0269 | 1 | 292 | 0.0034 | -24 | c.377 others(41): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEI1_chr22_41694503_41804454 | 41716355 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0128a0001c0001t0001g0129others(153): Show | 158 | 260 | 0.6077 | -24 | c.529 others(39): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MEI4_chr6_77648039_77932045 | 77905475 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG03098.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0078a0001c0001t0006g0124a0001c0001t0006g0222others(1): Show | 4 | 360 | 0.0111 | -24 | c.901 others(43): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEIKIN_chr5_131801990_131950663 | 131885341 | AAGAGAGA others(17): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01069.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0156a0001c0001t0002g0004a0001c0001t0002g0005others(21): Show | 24 | 346 | 0.0694 | -24 | c.704 others(41): Show |
MEIKIN | ENSG00000239642.6 | transcript | ENST00000442687.6 | protein_coding | 8/12 | chr5 | TogoVar | ||||||
MEIS1_chr2_66430125_66578869 | 66432767 | AACACACA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02897.hp1 HG03195.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0025a0001c0001t0006g0026a0001c0001t0006g0027others(1): Show | 4 | 246 | 0.0163 | -24 | c.-30 others(35): Show |
MEIS1 | ENSG00000143995.20 | transcript | ENST00000272369.14 | protein_coding | 2357 | chr2 | TogoVar | ||||||
MEIS1_chr2_66430125_66578869 | 66527591 | AGTGTGTG others(17): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG02293.hp2 NA18988.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0143a0001c0001t0001g0189a0001c0001t0002g0035others(3): Show | 6 | 246 | 0.0244 | -24 | c.888 others(43): Show |
MEIS1 | ENSG00000143995.20 | transcript | ENST00000272369.14 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MEIS2_chr15_36884204_37105549 | 36995956 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0258a0001c0001t0018g0259 | 2 | 274 | 0.0073 | -24 | c.900 others(43): Show |
MEIS2 | ENSG00000134138.22 | transcript | ENST00000561208.6 | protein_coding | 8/11 | chr15 | TogoVar | ||||||
MEIS2_chr15_36884204_37105549 | 37101341 | TGTGCGCG others(17): Show |
T | upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 274 | 0.0037 | -24 | c.-18 others(35): Show |
MEIS2 | ENSG00000134138.22 | transcript | ENST00000561208.6 | protein_coding | 793 | chr15 | TogoVar | ||||||
MELK_chr9_36567895_36682682 | 36621275 | GAAAAAAA others(17): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 242 | 0.0041 | -24 | c.667 others(41): Show |
MELK | ENSG00000165304.8 | transcript | ENST00000298048.7 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MELK_chr9_36567895_36682682 | 36666853 | TTGTGTGT others(17): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 242 | 0.0041 | -24 | c.140 others(43): Show |
MELK | ENSG00000165304.8 | transcript | ENST00000298048.7 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46797792 | CTCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG01361.hp1 NA18975.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0160a0003c0003t0003g0045 | 2 | 352 | 0.0057 | -24 | c.146 others(39): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46797907 | CTTCCTTC others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(45): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0013a0003c0003others(3): Show | a0001c0001t0001a0001c0013t0001a0003c0003t0003others(3): Show | a0001c0001t0001g0120a0001c0001t0001g0154a0001c0001t0001g0156others(45): Show | 48 | 352 | 0.1364 | -24 | c.146 others(39): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46807553 | AAAGAAAG others(17): Show |
A | intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0299 | 1 | 352 | 0.0028 | -24 | c.263 others(41): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46807600 | GGAAGGAA others(17): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp2 HG02622.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0003a0004c0004t0002others(1): Show | a0001c0001t0001g0189a0003c0003t0003g0119a0004c0004t0002g0143others(3): Show | 6 | 352 | 0.0171 | -24 | c.263 others(41): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46807770 | GGAAAGAA others(17): Show |
G | intron_variant | MODIFIER | HG02155.hp2 NA19056.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0288a0002c0002t0002g0345 | 2 | 352 | 0.0057 | -24 | c.263 others(41): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46824770 | TATGTATT others(17): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0036a0001c0001t0006g0007 | 2 | 352 | 0.0057 | -24 | c.557 others(39): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46824944 | TATATATT others(17): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01167.hp2 others(2): Show |
a0005a0007a0015 | a0005c0006a0007c0007a0015c0018 | a0005c0006t0003a0007c0007t0003a0015c0018t0001 | a0005c0006t0003g0059a0005c0006t0003g0060a0005c0006t0003g0110others(2): Show | 5 | 352 | 0.0142 | -24 | c.557 others(39): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46824982 | ATATATTT others(17): Show |
A | intron_variant | MODIFIER | HG02056.hp2 HG02109.hp1 HG02615.hp2 others(4): Show |
a0006 | a0006c0005 | a0006c0005t0002a0006c0005t0003 | a0006c0005t0002g0018a0006c0005t0003g0017a0006c0005t0003g0020others(4): Show | 7 | 352 | 0.0199 | -24 | c.557 others(39): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46841300 | ATGATTAA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(225): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0013a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0008a0001c0013t0001others(19): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0033others(225): Show | 228 | 352 | 0.6477 | -24 | c.*21 others(35): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 1523 | chr6 | TogoVar | ||||||
MEP1B_chr18_32185039_32225404 | 32215969 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00733.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0018a0002c0002others(3): Show | a0001c0001t0001a0001c0018t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0178a0001c0018t0001g0214a0002c0002t0001g0016others(23): Show | 30 | 350 | 0.0857 | -24 | c.175 others(41): Show |
MEP1B | ENSG00000141434.12 | transcript | ENST00000269202.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MESP1_chr15_89744875_89756249 | 89746484 | TACACACA others(17): Show |
T | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0031 | a0002c0031t0001 | a0002c0031t0001g0041 | 1 | 428 | 0.0023 | -24 | c.*36 others(35): Show |
MESP1 | ENSG00000166823.6 | transcript | ENST00000300057.5 | protein_coding | 3390 | chr15 | TogoVar |