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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(979): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 290 | 0.0035 | 986 | c.162 others(1005): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(979): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 290 | 0.0035 | 986 | c.162 others(1005): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(979): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0001g0147others(12): Show | 15 | 244 | 0.0615 | 986 | c.*23 others(997): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(979): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0046 | 1 | 282 | 0.0036 | 986 | c.258 others(1003): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACAACCCA others(979): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 308 | 0.0033 | 986 | c.-43 others(997): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(979): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(1): Show | a0001c0002t0001g0003a0001c0002t0001g0013a0001c0002t0005g0007others(3): Show | 15 | 308 | 0.0487 | 986 | c.-43 others(997): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(979): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 312 | 0.0032 | 986 | c.-41 others(1001): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(979): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0120 | 1 | 294 | 0.0034 | 986 | c.153 others(1005): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478070 | A | AGGGGGGA others(979): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 163 | 0.0061 | 986 | c.525 others(1003): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(979): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0063 | 1 | 288 | 0.0035 | 986 | c.483 others(1001): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(979): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 280 | 0.0036 | 986 | c.641 others(1001): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543820 | G | GGCACAGT others(979): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 286 | 0.0035 | 986 | c.153 others(1005): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(979): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0121 | 1 | 208 | 0.0048 | 986 | c.279 others(1001): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(979): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0252 | 1 | 308 | 0.0033 | 986 | c.371 others(1003): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(979): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 308 | 0.0033 | 986 | c.371 others(1003): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(979): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0057 | a0057c0030 | a0057c0030t0001 | a0057c0030t0001g0031 | 1 | 308 | 0.0033 | 986 | c.371 others(1003): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398352 | G | GTACCCCC others(979): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0008 | 1 | 216 | 0.0046 | 986 | c.106 others(1003): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398660 | G | GCATCACC others(979): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 216 | 0.0046 | 986 | c.106 others(1003): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398691 | G | GTCACCTC others(979): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 216 | 0.0046 | 986 | c.106 others(1003): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492366 | C | CGGGAGAC others(979): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0014 | a0003c0005t0014g0023 | 1 | 295 | 0.0034 | 986 | c.126 others(1005): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC1A2_chr11_35246205_35424558 | 35248682 | A | AGTGCATG others(979): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0288 | 1 | 306 | 0.0033 | 986 | c.*12 others(999): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2522 | chr11 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35248706 | C | CTAGCAGT others(979): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02970.hp1 |
a0001 | a0001c0003 | a0001c0003t0059a0001c0003t0091 | a0001c0003t0059g0107a0001c0003t0091g0303 | 2 | 306 | 0.0065 | 986 | c.*12 others(999): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2498 | chr11 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(979): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 186 | 0.0054 | 986 | c.-50 others(997): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(979): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0028 | 3 | 186 | 0.0161 | 986 | c.-50 others(997): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312884 | A | AGACTCAT others(979): Show |
intron_variant | MODIFIER | HG02132.hp1 HG04184.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0115a0001c0001t0001g0150 | 3 | 344 | 0.0087 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313148 | G | GCTCACCC others(979): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02818.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0007 | a0001c0001t0007g0067a0001c0005t0007g0004 | 3 | 344 | 0.0087 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0254 | 1 | 344 | 0.0029 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0099 | 1 | 344 | 0.0029 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 344 | 0.0029 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0259 | 1 | 344 | 0.0029 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(83): Show |
a0001a0003a0004 | a0001c0001a0003c0007a0004c0006 | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(7): Show | a0001c0001t0002g0010a0001c0001t0002g0012a0001c0001t0002g0013others(78): Show | 86 | 344 | 0.2500 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 344 | 0.0029 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 344 | 0.0029 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0190 | 1 | 344 | 0.0029 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0100a0001c0001t0006g0101 | 2 | 344 | 0.0058 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(67): Show | 72 | 344 | 0.2093 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313372 | G | GGATCCCA others(979): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0074 | 1 | 344 | 0.0029 | 986 | c.327 others(1003): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(979): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0195 | 1 | 402 | 0.0025 | 986 | c.783 others(1001): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TMEM63B_chr6_44122554_44160519 | 44146439 | G | GGAGATGT others(979): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG01257.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0208a0002c0002t0002g0209a0002c0002t0002g0211others(4): Show | 7 | 402 | 0.0174 | 986 | c.783 others(1001): Show |
TMEM63B | ENSG00000137216.19 | transcript | ENST00000323267.11 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GGTTAGGG others(979): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 466 | 0.0022 | 986 | c.*49 others(997): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(979): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 986 | c.*29 others(997): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(979): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 238 | 0.0042 | 986 | c.392 others(1003): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(979): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0023 | 1 | 202 | 0.0050 | 986 | c.*53 others(997): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(980): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0033 | 1 | 218 | 0.0046 | 987 | c.108 others(1004): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412784 | A | ACTCGGTT others(980): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0013 | a0008c0013t0035 | a0008c0013t0035g0078 | 1 | 262 | 0.0038 | 987 | c.106 others(1006): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412784 | A | ACTCGGTT others(980): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0008 | a0008c0013 | a0008c0013t0036 | a0008c0013t0036g0015 | 1 | 262 | 0.0038 | 987 | c.106 others(1006): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(980): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0231a0001c0001t0007g0049 | 2 | 262 | 0.0076 | 987 | c.106 others(1006): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318187 | A | ACCCTGCA others(980): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 268 | 0.0037 | 987 | c.-36 others(998): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3526 | chr5 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0099 | 1 | 268 | 0.0037 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 268 | 0.0037 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |