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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPOR_chr19_11372207_11389314 | 11386371 | AATAAATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp2 HG03453.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0017 | 2 | 404 | 0.0050 | -10 | c.-21 others(21): Show |
EPOR | ENSG00000187266.14 | transcript | ENST00000222139.11 | protein_coding | 2058 | chr19 | TogoVar | ||||||
EPO_chr7_100715468_100728700 | 100725531 | ATTTCTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02886.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 380 | 0.0132 | -10 | c.*23 others(21): Show |
EPO | ENSG00000130427.3 | transcript | ENST00000252723.3 | protein_coding | 1832 | chr7 | TogoVar | ||||||
EPPIN_chr20_45535626_45552401 | 45541502 | CTCTCTTC others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG03041.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0013 | 4 | 438 | 0.0091 | -10 | c.*63 others(19): Show |
EPPIN | ENSG00000101448.14 | transcript | ENST00000354280.9 | protein_coding | 4/4 | 632 | chr20 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143860089 | GCACGCCC others(3): Show |
G | frameshift_variant | HIGH | HG01255.hp1 | a0275 | a0275c0120 | a0275c0120t0002 | a0275c0120t0002g0174 | 1 | 424 | 0.0024 | -10 | c.131 others(21): Show |
p.Trp others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13239/16005 | 13155/15267 | 4385/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143878385 | GCCGCACC others(3): Show |
G | intron_variant | MODIFIER | HG01952.hp2 HG01981.hp2 HG04184.hp2 others(3): Show |
a0006a0009a0076others(3): Show | a0006c0003a0009c0187a0076c0198others(3): Show | a0006c0003t0004a0009c0187t0014a0076c0198t0003others(3): Show | a0006c0003t0004g0230a0009c0187t0014g0229a0076c0198t0003g0228others(3): Show | 6 | 424 | 0.0142 | -10 | c.-46 others(23): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220020821 | AATTTATA others(3): Show |
A | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0328 | 1 | 358 | 0.0028 | -10 | c.111 others(27): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 9/31 | chr1 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220020824 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG01993.hp2 others(35): Show |
a0001a0017 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0002g0233a0001c0001t0002g0234a0001c0001t0002g0236others(35): Show | 38 | 358 | 0.1062 | -10 | c.111 others(27): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 9/31 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51357387 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG04199.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0005a0002c0004t0002g0014 | 2 | 152 | 0.0132 | -10 | c.254 others(27): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51374996 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0077 | 1 | 152 | 0.0066 | -10 | c.212 others(29): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51391455 | TAATAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG06807.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0017a0002c0001t0022 | a0001c0002t0017g0032a0002c0001t0022g0115 | 2 | 152 | 0.0132 | -10 | c.211 others(29): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51404107 | GAGGCCGA others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03139.hp2 HG03486.hp1 others(1): Show |
a0002a0007 | a0002c0001a0007c0009 | a0002c0001t0012a0007c0009t0015 | a0002c0001t0012g0001a0002c0001t0012g0002a0002c0001t0012g0003others(1): Show | 4 | 152 | 0.0263 | -10 | c.167 others(27): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51415796 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
a0002a0004a0006 | a0002c0001a0004c0015a0006c0010 | a0002c0001t0011a0004c0015t0011a0006c0010t0026 | a0002c0001t0011g0130a0002c0001t0011g0131a0002c0001t0011g0132others(2): Show | 5 | 152 | 0.0329 | -10 | c.111 others(29): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51430977 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG02109.hp2 HG02257.hp1 others(5): Show |
a0002a0003a0007 | a0002c0001a0002c0007a0003c0005others(1): Show | a0002c0001t0010a0002c0001t0012a0002c0007t0010others(2): Show | a0002c0001t0010g0041a0002c0001t0010g0042a0002c0001t0010g0044others(5): Show | 8 | 152 | 0.0526 | -10 | c.104 others(29): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51431019 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 NA19030.hp1 NA20300.hp1 |
a0002a0008 | a0002c0001a0008c0011 | a0002c0001t0005a0008c0011t0025 | a0002c0001t0005g0138a0002c0001t0005g0148a0008c0011t0025g0140 | 3 | 152 | 0.0197 | -10 | c.104 others(29): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51483398 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp2 HG02922.hp1 others(3): Show |
a0002 | a0002c0004a0002c0014 | a0002c0004t0002a0002c0014t0002 | a0002c0004t0002g0009a0002c0004t0002g0011a0002c0004t0002g0012others(3): Show | 6 | 152 | 0.0395 | -10 | c.34- others(25): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51508186 | GAGAAAAG others(3): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(16): Show |
a0002 | a0002c0001a0002c0004 | a0002c0001t0004a0002c0001t0008a0002c0001t0010others(1): Show | a0002c0001t0004g0018a0002c0001t0004g0019a0002c0001t0004g0020others(16): Show | 19 | 152 | 0.1250 | -10 | c.33+ others(27): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55077331 | GCATCTTA others(3): Show |
G | intron_variant | MODIFIER | HG02074.hp1 NA18943.hp1 NA18952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0095a0001c0001t0001g0096 | 4 | 340 | 0.0118 | -10 | c.18- others(23): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55080734 | CGGCGTGG others(3): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 |
a0003a0012 | a0003c0003a0012c0010 | a0003c0003t0001a0012c0010t0001 | a0003c0003t0001g0168a0012c0010t0001g0167 | 2 | 340 | 0.0059 | -10 | c.430 others(23): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EPS8L1_chr19_55070869_55092923 | 55088879 | CCTGGTTC others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0059 | 1 | 340 | 0.0029 | -10 | c.*12 others(21): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 957 | chr19 | TogoVar | ||||||
EPS8L2_chr11_701231_732727 | 711259 | TGCGTGCG others(3): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0054 | 1 | 406 | 0.0025 | -10 | c.165 others(25): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EPS8L2_chr11_701231_732727 | 714592 | CATTTTAT others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02970.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0291a0001c0001t0002g0292a0001c0001t0002g0293others(1): Show | 4 | 406 | 0.0099 | -10 | c.165 others(27): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EPS8L3_chr1_109745080_109768923 | 109759144 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp1 NA19043.hp1 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0195a0003c0004t0005g0233a0003c0004t0005g0236 | 3 | 426 | 0.0070 | -10 | c.406 others(23): Show |
EPS8L3 | ENSG00000198758.11 | transcript | ENST00000361965.9 | protein_coding | 5/18 | chr1 | TogoVar | ||||||
EPS8_chr12_15615134_15794388 | 15663944 | AAATAATA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0058a0001c0002t0001g0008a0001c0002t0001g0010others(7): Show | 10 | 102 | 0.0980 | -10 | c.736 others(27): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | TogoVar | ||||||
EPS8_chr12_15615134_15794388 | 15663948 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02559.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020a0001c0002t0001g0034a0001c0002t0001g0037others(10): Show | 13 | 102 | 0.1275 | -10 | c.736 others(27): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | TogoVar | ||||||
EPS8_chr12_15615134_15794388 | 15780481 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 102 | 0.0098 | -10 | c.-22 others(27): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42882935 | CTCTCTGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0056 | a0001c0001t0002g0202a0001c0001t0056g0328 | 2 | 352 | 0.0057 | -10 | c.*55 others(21): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3452 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42978155 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG03041.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007 | a0001c0001t0002g0184a0001c0001t0002g0245a0001c0002t0007g0244 | 3 | 352 | 0.0085 | -10 | c.189 others(27): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
EPX_chr17_58187726_58210174 | 58196033 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(99): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0005others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(18): Show | a0001c0001t0001g0004a0001c0002t0001g0004a0001c0002t0001g0009others(57): Show | 102 | 404 | 0.2525 | -10 | c.801 others(25): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EQTN_chr9_27279654_27302150 | 27285133 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 446 | 0.0022 | -10 | c.636 others(25): Show |
EQTN | ENSG00000120160.11 | transcript | ENST00000380032.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96783818 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG03041.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0056a0001c0001t0002g0105 | 2 | 416 | 0.0048 | -10 | c.210 others(26): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 14/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96783846 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01496.hp2 others(6): Show |
a0009 | a0009c0009 | a0009c0009t0001a0009c0009t0002a0009c0009t0006others(2): Show | a0009c0009t0001g0031a0009c0009t0001g0168a0009c0009t0001g0171others(5): Show | 9 | 416 | 0.0216 | -10 | c.210 others(25): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 14/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96794171 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0053 | 1 | 416 | 0.0024 | -10 | c.920 others(25): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 5/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96808187 | CGTGTGTG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0020others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0002g0025a0002c0002t0001g0001others(17): Show | 20 | 416 | 0.0481 | -10 | c.-35 others(19): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96874170 | GAAAGAAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(30): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0006others(8): Show | a0001c0001t0001g0030a0001c0001t0001g0140a0001c0001t0001g0141others(28): Show | 33 | 398 | 0.0829 | -10 | c.-24 others(21): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 2329 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96887094 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0005 | a0005c0006 | a0005c0006t0013 | a0005c0006t0013g0331 | 1 | 398 | 0.0025 | -10 | c.849 others(25): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERAP2_chr5_96871500_96924703 | 96887096 | TATATACA others(3): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0325 | 1 | 398 | 0.0025 | -10 | c.849 others(25): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERAP2_chr5_96871500_96924703 | 96887098 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | NA18991.hp2 | a0004 | a0004c0005 | a0004c0005t0016 | a0004c0005t0016g0304 | 1 | 398 | 0.0025 | -10 | c.849 others(25): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERAS_chrX_48821513_48834869 | 48834779 | TCACACAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01256.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 15 | 308 | 0.0487 | -10 | c.*49 others(21): Show |
ERAS | ENSG00000187682.2 | transcript | ENST00000636362.1 | protein_coding | 4911 | chrX | TogoVar | ||||||
ERBB2_chr17_39695064_39733658 | 39695704 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG01258.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0021a0001c0004t0001g0099a0002c0002t0001g0002others(2): Show | 8 | 318 | 0.0252 | -10 | c.-45 others(21): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 4359 | chr17 | TogoVar | ||||||
ERBB3_chr12_56075165_56108505 | 56085761 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02698.hp1 NA18950.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0066a0001c0001t0001g0067others(1): Show | 4 | 392 | 0.0102 | -10 | c.421 others(25): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERBB3_chr12_56075165_56108505 | 56102806 | TAAAAAAA others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0128 | 1 | 392 | 0.0026 | -10 | c.*77 others(19): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 28/28 | 770 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ERBB4_chr2_211370717_212543802 | 211393740 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02717.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0023others(1): Show | a0001c0001t0002g0032a0001c0001t0007g0018a0001c0001t0007g0043others(2): Show | 5 | 56 | 0.0893 | -10 | c.313 others(29): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211413309 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0022 | a0001c0001t0020g0028a0001c0001t0022g0006 | 2 | 56 | 0.0357 | -10 | c.313 others(29): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211428211 | TTAAAATA others(3): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0005 | 1 | 56 | 0.0179 | -10 | c.271 others(27): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 22/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211550723 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03225.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0005g0044a0001c0001t0010g0022a0001c0001t0011g0041others(1): Show | 4 | 56 | 0.0714 | -10 | c.248 others(31): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211560262 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 1 | 56 | 0.0179 | -10 | c.248 others(29): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211561096 | TATAGATA others(3): Show |
T | intron_variant | MODIFIER | HG03486.hp1 HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0012 | a0001c0001t0003g0050a0001c0001t0009g0023a0001c0001t0012g0001 | 3 | 56 | 0.0536 | -10 | c.248 others(27): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211622990 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 56 | 0.0179 | -10 | c.220 others(27): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211759806 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG02258.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0009g0046a0001c0001t0010g0022a0001c0001t0015g0034others(2): Show | 5 | 56 | 0.0893 | -10 | c.557 others(27): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211772918 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0028 | 1 | 56 | 0.0179 | -10 | c.556 others(29): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar |