view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EGF_chr4_109907883_110018766 | 109919287 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | NA19006.hp2 NA19086.hp2 NA19090.hp2 others(1): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0011 | a0001c0001t0002a0002c0002t0001a0010c0011t0001 | a0001c0001t0002g0312a0002c0002t0001g0224a0002c0002t0001g0225others(1): Show | 4 | 388 | 0.0103 | 8 | c.127 others(25): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109927848 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02922.hp2 |
a0012a0014 | a0012c0014a0014c0017 | a0012c0014t0007a0014c0017t0007 | a0012c0014t0007g0119a0014c0017t0007g0118a0014c0017t0007g0121 | 3 | 388 | 0.0077 | 8 | c.128 others(27): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109932360 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02895.hp2 NA19030.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128a0001c0001t0002g0129a0001c0001t0002g0130 | 3 | 388 | 0.0077 | 8 | c.128 others(25): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109968673 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00673.hp1 others(38): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0013a0001c0019others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0071a0001c0001t0002g0072a0001c0001t0002g0080others(38): Show | 41 | 388 | 0.1057 | 8 | c.157 others(25): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109968676 | C | CTATCTAT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03041.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0126a0001c0001t0007g0005a0001c0001t0007g0123others(2): Show | 6 | 388 | 0.0155 | 8 | c.157 others(25): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109970824 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01884.hp1 others(39): Show |
a0004a0005a0008others(2): Show | a0004c0004a0004c0032a0005c0005others(3): Show | a0004c0004t0003a0004c0004t0004a0004c0004t0006others(8): Show | a0004c0004t0003g0008a0004c0004t0003g0132a0004c0004t0003g0247others(38): Show | 42 | 388 | 0.1083 | 8 | c.172 others(27): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 110004215 | T | TACATACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01975.hp2 others(24): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0027a0001c0033others(3): Show | a0001c0001t0004a0001c0001t0013a0001c0001t0015others(6): Show | a0001c0001t0004g0019a0001c0001t0004g0325a0001c0001t0004g0326others(24): Show | 27 | 388 | 0.0696 | 8 | c.317 others(25): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231391063 | T | TGTGTGAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp1 others(68): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0009 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0134others(66): Show | 71 | 338 | 0.2101 | 8 | c.892 others(27): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EGLN3_chr14_33919227_33956074 | 33927152 | G | GATTTATT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(182): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0056a0001c0001t0001g0113a0001c0001t0001g0124others(114): Show | 185 | 424 | 0.4363 | 8 | c.615 others(23): Show |
EGLN3 | ENSG00000129521.15 | transcript | ENST00000250457.9 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
EGR3_chr8_22682659_22698480 | 22685400 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01168.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0041others(14): Show | 21 | 374 | 0.0562 | 8 | c.*50 others(19): Show |
EGR3 | ENSG00000179388.9 | transcript | ENST00000317216.3 | protein_coding | 2258 | chr8 | TogoVar | |||||||
EGR3_chr8_22682659_22698480 | 22685427 | G | GTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 HG02615.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0001a0001c0001t0004g0005a0001c0001t0006g0014others(3): Show | 8 | 374 | 0.0214 | 8 | c.*50 others(19): Show |
EGR3 | ENSG00000179388.9 | transcript | ENST00000317216.3 | protein_coding | 2231 | chr8 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62820737 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01243.hp1 HG01346.hp2 others(10): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0010t0001 | a0001c0001t0001g0054a0001c0001t0001g0077a0001c0001t0001g0078others(10): Show | 13 | 198 | 0.0657 | 8 | c.313 others(25): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62830153 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00738.hp1 others(18): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0107a0001c0001t0001g0145others(18): Show | 21 | 198 | 0.1061 | 8 | c.495 others(23): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62879546 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01167.hp2 others(14): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(14): Show | 17 | 198 | 0.0859 | 8 | c.118 others(27): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62894923 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01515.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0070 | 3 | 198 | 0.0152 | 8 | c.118 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62894927 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(36): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(36): Show | 39 | 198 | 0.1970 | 8 | c.118 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62894941 | G | GAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03453.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0001g0198 | 3 | 198 | 0.0152 | 8 | c.118 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 63019830 | G | GGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01515.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025a0001c0001t0001g0038a0001c0001t0002g0082others(6): Show | 9 | 198 | 0.0455 | 8 | c.310 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 63019830 | G | GGGAGGGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG01256.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(14): Show | 17 | 198 | 0.0859 | 8 | c.310 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 63026294 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02145.hp1 HG02300.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080a0001c0001t0002g0083a0001c0001t0002g0084others(6): Show | 9 | 198 | 0.0455 | 8 | c.310 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 63043920 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02135.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0003 | a0001c0001t0001g0063a0001c0001t0001g0134a0001c0001t0002g0085others(3): Show | 6 | 198 | 0.0303 | 8 | c.327 others(27): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47715038 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00639.hp2 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0002others(9): Show | a0001c0001t0001g0205a0001c0001t0001g0208a0001c0001t0001g0212others(69): Show | 73 | 398 | 0.1834 | 8 | c.-55 others(25): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47719944 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0310a0001c0001t0001g0312a0001c0001t0001g0314others(18): Show | 22 | 398 | 0.0553 | 8 | c.502 others(25): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47719946 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(58): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0001t0001g0008a0001c0001t0001g0141a0001c0001t0001g0142others(58): Show | 61 | 398 | 0.1533 | 8 | c.502 others(25): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47731303 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02717.hp1 others(8): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0010others(1): Show | a0001c0002t0003a0001c0002t0017a0001c0004t0007others(2): Show | a0001c0002t0003g0025a0001c0002t0003g0222a0001c0002t0003g0287others(8): Show | 11 | 398 | 0.0276 | 8 | c.916 others(25): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47731304 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0011a0001c0015others(2): Show | a0001c0001t0001a0001c0011t0012a0001c0015t0001others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0057a0001c0001t0001g0071others(34): Show | 37 | 398 | 0.0930 | 8 | c.916 others(25): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47743417 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG03041.hp2 others(6): Show |
a0001a0002a0005 | a0001c0002a0001c0010a0002c0007others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0010t0005others(2): Show | a0001c0002t0002g0135a0001c0002t0002g0240a0001c0002t0002g0272others(6): Show | 9 | 398 | 0.0226 | 8 | c.*19 others(19): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 284 | chr19 | TogoVar | |||||||
EHD3_chr2_31229152_31274451 | 31245528 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18977.hp1 NA19010.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0046others(1): Show | a0001c0001t0002g0188a0001c0001t0007g0167a0001c0001t0007g0172others(3): Show | 6 | 378 | 0.0159 | 8 | c.404 others(25): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41902241 | C | CTCCATCC others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01255.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0055a0001c0001t0001g0060others(15): Show | 20 | 360 | 0.0556 | 8 | c.109 others(27): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
EHD4_chr15_41890933_41977557 | 41917096 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01167.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0063a0001c0001t0001g0066a0001c0001t0001g0070others(33): Show | 36 | 360 | 0.1000 | 8 | c.924 others(25): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
EHD4_chr15_41890933_41977557 | 41918217 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(82): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0064a0001c0002t0001g0100a0001c0002t0001g0322others(78): Show | 85 | 360 | 0.2361 | 8 | c.924 others(23): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
EHD4_chr15_41890933_41977557 | 41949016 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01070.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0009a0001c0002t0004others(4): Show | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0001g0229others(12): Show | 15 | 360 | 0.0417 | 8 | c.413 others(25): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
EHD4_chr15_41890933_41977557 | 41949051 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG02735.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0081a0001c0001t0002g0069a0001c0002t0003g0080others(2): Show | 5 | 360 | 0.0139 | 8 | c.413 others(25): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
EHD4_chr15_41890933_41977557 | 41958107 | A | AGGATTGT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01175.hp1 HG01243.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0047others(39): Show | 44 | 360 | 0.1222 | 8 | c.237 others(25): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
EHF_chr11_34616093_34668288 | 34616606 | G | GTGTATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0032a0001c0003t0005 | a0001c0001t0032g0174a0001c0001t0032g0175a0001c0003t0005g0173 | 3 | 410 | 0.0073 | 8 | c.-46 others(19): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 4486 | chr11 | TogoVar | |||||||
EHF_chr11_34616093_34668288 | 34616606 | G | GTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 NA18949.hp1 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0165a0001c0001t0002g0003a0001c0001t0002g0157others(1): Show | 6 | 410 | 0.0146 | 8 | c.-46 others(19): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 4486 | chr11 | TogoVar | |||||||
EHF_chr11_34616093_34668288 | 34618593 | C | CATCTATC others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG01123.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0152a0001c0001t0001g0167a0001c0001t0001g0193others(24): Show | 27 | 410 | 0.0659 | 8 | c.-26 others(19): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2499 | chr11 | TogoVar | |||||||
EHF_chr11_34616093_34668288 | 34643065 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02922.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0032a0001c0001t0068 | a0001c0001t0002g0380a0001c0001t0032g0174a0001c0001t0068g0188 | 3 | 410 | 0.0073 | 8 | c.97+ others(21): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EHF_chr11_34616093_34668288 | 34656570 | A | ACTTCTAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0116others(107): Show | 120 | 410 | 0.2927 | 8 | c.545 others(23): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137649458 | T | TCAAACAA others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03130.hp1 HG03195.hp1 others(3): Show |
a0001a0002a0009 | a0001c0001a0001c0007a0002c0010others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0010t0001others(1): Show | a0001c0001t0001g0042a0001c0007t0001g0055a0002c0010t0001g0126others(3): Show | 6 | 170 | 0.0353 | 8 | c.21+ others(25): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137691309 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0057a0001c0003t0001g0058a0001c0003t0001g0059others(2): Show | 5 | 170 | 0.0294 | 8 | c.22- others(25): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137742289 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02273.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0023others(8): Show | 11 | 170 | 0.0647 | 8 | c.824 others(25): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137795401 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02723.hp2 HG03579.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0081a0001c0004t0001g0153a0001c0006t0001g0154 | 3 | 170 | 0.0177 | 8 | c.250 others(27): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137795432 | C | CACTCACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02717.hp2 HG03195.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001a0001c0003t0001g0078a0001c0003t0001g0084others(4): Show | 7 | 170 | 0.0412 | 8 | c.250 others(27): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137796703 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01891.hp1 HG02602.hp2 others(6): Show |
a0001a0002a0009 | a0001c0002a0001c0004a0002c0010others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0010t0001others(1): Show | a0001c0002t0001g0018a0001c0004t0001g0070a0001c0004t0001g0071others(6): Show | 9 | 170 | 0.0529 | 8 | c.250 others(27): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EID1_chr15_48873134_48885173 | 48880985 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 NA18965.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 434 | 0.0092 | 8 | c.*22 others(19): Show |
EID1 | ENSG00000255302.5 | transcript | ENST00000530028.3 | protein_coding | 813 | chr15 | TogoVar | |||||||
EID2_chr19_39533707_39545161 | 39542934 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01358.hp2 HG01934.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0001 | a0001c0001t0003g0000a0003c0003t0001g0000 | 5 | 420 | 0.0119 | 8 | c.-28 others(19): Show |
EID2 | ENSG00000176396.11 | transcript | ENST00000390658.4 | protein_coding | 2774 | chr19 | TogoVar | |||||||
EID2_chr19_39533707_39545161 | 39542970 | T | TGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(71): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0005g0000others(2): Show | 74 | 420 | 0.1762 | 8 | c.-28 others(19): Show |
EID2 | ENSG00000176396.11 | transcript | ENST00000390658.4 | protein_coding | 2810 | chr19 | TogoVar | |||||||
EIF1AY_chrY_20570776_20598154 | 20576598 | A | ATAGTGAT others(1): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 133 | 0.0075 | 8 | c.16+ others(21): Show |
EIF1AY | ENSG00000198692.10 | transcript | ENST00000361365.7 | protein_coding | 1/6 | chrY | TogoVar | |||||||
EIF1AY_chrY_20570776_20598154 | 20578012 | T | TACATAGT others(1): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 133 | 0.0075 | 8 | c.17- others(23): Show |
EIF1AY | ENSG00000198692.10 | transcript | ENST00000361365.7 | protein_coding | 1/6 | chrY | TogoVar |