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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ESF1_chr20_13709325_13789919 | 13780648 | G | GCTATCAA others(29): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 390 | 0.0026 | 36 | c.637 others(53): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 2/13 | chr20 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(29): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG02683.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0322a0001c0003t0001g0240a0001c0003t0001g0335others(1): Show | 4 | 374 | 0.0107 | 36 | c.-47 others(47): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94668789 | A | ATGTGTGT others(29): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(19): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0110a0001c0001t0001g0116others(18): Show | 22 | 374 | 0.0588 | 36 | c.123 others(53): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76414110 | C | CCCCGCCC others(29): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(22): Show | a0001c0001t0001g0106a0001c0001t0001g0154a0001c0001t0001g0161others(56): Show | 59 | 318 | 0.1855 | 36 | c.51- others(53): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ETFA_chr15_76210353_76316469 | 76272805 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0272 | 1 | 336 | 0.0030 | 36 | c.816 others(53): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 9/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76272813 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0230 | 1 | 336 | 0.0030 | 36 | c.816 others(53): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 9/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76295936 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 336 | 0.0030 | 36 | c.40- others(49): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76311932 | C | CTTTTTTT others(29): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG03669.hp1 HG03710.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0122a0001c0001t0002g0129others(6): Show | 9 | 336 | 0.0268 | 36 | c.-54 others(45): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 464 | chr15 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108753749 | T | TAAGAAAG others(29): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0246 | 2 | 378 | 0.0053 | 36 | c.502 others(51): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
ETV2_chr19_35636745_35649871 | 35638908 | C | CAAAAAAA others(29): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 438 | 0.0046 | 36 | c.-32 others(47): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 2836 | chr19 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11669373 | T | TCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01993.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0029 | a0001c0001t0001g0068a0001c0002t0029g0223 | 2 | 262 | 0.0076 | 36 | c.33+ others(53): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ETV6_chr12_11644674_11900377 | 11669373 | T | TCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0005 | 1 | 262 | 0.0038 | 36 | c.33+ others(53): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EVA1A_chr2_75487318_75565939 | 75555336 | T | TCTCTCTC others(29): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18971.hp2 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274a0001c0001t0002g0302a0001c0001t0002g0348 | 3 | 384 | 0.0078 | 36 | c.-19 others(55): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32503549 | A | AAAATAAA others(29): Show |
intron_variant | MODIFIER | NA18962.hp1 NA20805.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0259a0001c0004t0001g0235 | 2 | 346 | 0.0058 | 36 | c.860 others(51): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EVC_chr4_5706201_5819305 | 5808133 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG03516.hp1 NA21309.hp2 |
a0004a0006 | a0004c0006a0006c0010 | a0004c0006t0021a0006c0010t0021 | a0004c0006t0021g0314a0006c0010t0021g0324 | 2 | 369 | 0.0054 | 36 | c.256 others(51): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EVC_chr4_5706201_5819305 | 5808137 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(33): Show |
a0001a0002a0003others(10): Show | a0001c0004a0001c0008a0001c0040others(16): Show | a0001c0004t0004a0001c0004t0005a0001c0008t0005others(22): Show | a0001c0004t0004g0047a0001c0004t0005g0241a0001c0004t0005g0260others(33): Show | 36 | 369 | 0.0976 | 36 | c.256 others(51): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EVC_chr4_5706201_5819305 | 5808141 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(101): Show |
a0001a0002a0003others(25): Show | a0001c0002a0001c0004a0001c0008others(44): Show | a0001c0002t0002a0001c0004t0007a0001c0004t0038others(47): Show | a0001c0002t0002g0060a0001c0002t0002g0061a0001c0002t0002g0098others(100): Show | 104 | 369 | 0.2818 | 36 | c.256 others(51): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EXD1_chr15_41177728_41235757 | 41179536 | A | AAAGGAAG others(29): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0096 | 1 | 318 | 0.0031 | 36 | c.*43 others(47): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 3191 | chr15 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137312740 | T | TCCCAGGG others(29): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0024 | 1 | 82 | 0.0122 | 36 | c.218 others(55): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137322806 | C | CGAGGGAT others(29): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0058 | 1 | 82 | 0.0122 | 36 | c.218 others(53): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137322923 | C | CTCTGCCG others(29): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 82 | 0.0122 | 36 | c.218 others(53): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137322966 | G | GACACCCC others(29): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 82 | 0.0122 | 36 | c.218 others(53): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137323067 | A | ATCTGCCG others(29): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 82 | 0.0122 | 36 | c.218 others(53): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137323103 | A | ATCTGCCG others(29): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 82 | 0.0122 | 36 | c.218 others(53): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137323139 | A | ATCTGCCG others(29): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01256.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0031a0002c0002others(3): Show | a0001c0001t0001a0001c0031t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0050others(6): Show | 9 | 82 | 0.1098 | 36 | c.218 others(53): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137323355 | C | CTCTGCCG others(29): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 82 | 0.0122 | 36 | c.218 others(53): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501225 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 272 | 0.0037 | 36 | c.238 others(55): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 601374 | A | ACACATTC others(29): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0199a0001c0001t0003g0067a0001c0001t0003g0084others(3): Show | 6 | 272 | 0.0221 | 36 | c.743 others(53): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 601562 | G | GTGCGAAT others(29): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0019 | a0001c0019t0007 | a0001c0019t0007g0186 | 1 | 272 | 0.0037 | 36 | c.743 others(53): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 601694 | A | ACACATTC others(29): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0199a0001c0001t0003g0067a0001c0001t0003g0084others(3): Show | 6 | 272 | 0.0221 | 36 | c.743 others(53): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103109216 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02559.hp1 NA18994.hp1 |
a0001a0026 | a0001c0003a0026c0047 | a0001c0003t0002a0026c0047t0003 | a0001c0003t0002g0310a0001c0003t0002g0312a0026c0047t0003g0292 | 3 | 404 | 0.0074 | 36 | c.197 others(53): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC3L4_chr14_103089725_103115559 | 103109688 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | NA18966.hp2 NA19009.hp1 |
a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0081a0002c0007t0003g0086 | 2 | 404 | 0.0050 | 36 | c.197 others(53): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133558189 | C | CTCTTTTC others(29): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 102 | 0.0098 | 36 | c.141 others(57): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC6B_chr2_72170984_72831033 | 72224994 | G | GTGTATAT others(29): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0103a0001c0002t0004g0104 | 2 | 104 | 0.0192 | 36 | c.219 others(57): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72697105 | C | CAGATATA others(29): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0079 | 1 | 104 | 0.0096 | 36 | c.669 others(55): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02083.hp2 NA21309.hp1 |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0001a0006c0016t0001 | a0001c0001t0001g0033a0001c0001t0001g0117a0006c0016t0001g0141 | 3 | 284 | 0.0106 | 36 | c.248 others(53): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 284 | 0.0035 | 36 | c.248 others(53): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0108a0001c0001t0001g0170a0001c0007t0001g0216 | 3 | 284 | 0.0106 | 36 | c.248 others(53): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 284 | 0.0035 | 36 | c.248 others(53): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | ||||||
EXOSC1_chr10_97430909_97451006 | 97449861 | C | CTTTTTTT others(29): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 430 | 0.0023 | 36 | c.-38 others(47): Show |
EXOSC1 | ENSG00000171311.13 | transcript | ENST00000370902.8 | protein_coding | 3856 | chr10 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532339 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0020 | a0020c0019 | a0020c0019t0022 | a0020c0019t0022g0124 | 1 | 314 | 0.0032 | 36 | c.444 others(53): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532366 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0035 | a0002c0035t0044 | a0002c0035t0044g0090 | 1 | 314 | 0.0032 | 36 | c.444 others(53): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119169 | T | TATATACA others(29): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18971.hp2 NA18990.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107a0001c0001t0002g0108a0001c0001t0002g0109others(1): Show | 4 | 334 | 0.0120 | 36 | c.743 others(53): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EYA1_chr8_71192433_71367069 | 71274928 | G | GAGCGAGA others(29): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0168 | 1 | 232 | 0.0043 | 36 | c.827 others(53): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 9/17 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 238 | 0.0042 | 36 | c.-10 others(53): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG02083.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0134a0001c0003t0001g0093 | 2 | 238 | 0.0084 | 36 | c.-10 others(53): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA3_chr1_27965344_28093610 | 28073103 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0341 | 1 | 392 | 0.0026 | 36 | c.-68 others(55): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 392 | 0.0026 | 36 | c.-68 others(55): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 392 | 0.0026 | 36 | c.-68 others(55): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0297a0001c0001t0016g0030 | 2 | 392 | 0.0051 | 36 | c.-68 others(55): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar |