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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3387): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0045 | a0045c0057 | a0045c0057t0003 | a0045c0057t0003g0155 | 1 | 369 | 0.0027 | 3394 | c.-50 others(3405): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706345 | G | GATAGATA others(3387): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01346.hp1 |
a0008a0009 | a0008c0013a0009c0022 | a0008c0013t0003a0009c0022t0001 | a0008c0013t0003g0116a0009c0022t0001g0121 | 2 | 369 | 0.0054 | 3394 | c.-50 others(3405): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4855 | chr4 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323557 | T | TGTGTGTG others(3387): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0016 | a0016c0021 | a0016c0021t0003 | a0016c0021t0003g0082 | 1 | 155 | 0.0065 | 3394 | c.-47 others(3405): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4762 | chrX | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(3387): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0012 | 1 | 295 | 0.0034 | 3394 | c.715 others(3411): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(3387): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0038 | 1 | 214 | 0.0047 | 3394 | c.206 others(3413): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88137941 | G | GTCCTGGC others(3387): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0163 | 1 | 446 | 0.0022 | 3394 | c.189 others(3409): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88137941 | G | GTCCTGGC others(3387): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 446 | 0.0022 | 3394 | c.189 others(3409): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88137941 | G | GTCCTGGC others(3387): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 446 | 0.0022 | 3394 | c.189 others(3409): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88137941 | G | GTCCTGGC others(3387): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 446 | 0.0022 | 3394 | c.189 others(3409): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88137941 | G | GTCCTGGC others(3387): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 446 | 0.0022 | 3394 | c.189 others(3409): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88137941 | G | GTCCTGGC others(3387): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 446 | 0.0022 | 3394 | c.189 others(3409): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88137941 | G | GTCCTGGC others(3387): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 446 | 0.0022 | 3394 | c.189 others(3409): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3387): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0137 | 1 | 330 | 0.0030 | 3394 | c.227 others(3411): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3387): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0191 | 1 | 330 | 0.0030 | 3394 | c.227 others(3411): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3387): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0157 | 1 | 330 | 0.0030 | 3394 | c.227 others(3411): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3387): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0141 | 1 | 330 | 0.0030 | 3394 | c.227 others(3411): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3387): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0171 | 1 | 330 | 0.0030 | 3394 | c.227 others(3411): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF99_chr19_22747183_22789151 | 22771879 | G | GGCTAATT others(3387): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02970.hp1 |
a0000 | a0000c0006 | a0000c0006t0043a0000c0006t0045 | a0000c0006t0043g0312a0000c0006t0045g0311 | 2 | 344 | 0.0058 | 3394 | c.4-2 others(3407): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23043924 | G | GGGGGGCC others(3388): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 351 | 0.0029 | 3395 | c.-43 others(3406): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4356 | chr15 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3388): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0159 | 1 | 330 | 0.0030 | 3395 | c.227 others(3412): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3388): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0185 | 1 | 330 | 0.0030 | 3395 | c.227 others(3412): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(3389): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0110 | 1 | 298 | 0.0034 | 3396 | c.955 others(3413): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(3389): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0007 | a0007c0023 | a0007c0023t0001 | a0007c0023t0001g0042 | 1 | 104 | 0.0096 | 3396 | c.830 others(3413): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3389): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0204 | 1 | 216 | 0.0046 | 3396 | c.-51 others(3415): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPATS1_chr6_44337650_44385179 | 44359260 | T | TGATTTTA others(3389): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 392 | 0.0026 | 3396 | c.288 others(3413): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGGACAT others(3389): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 351 | 0.0029 | 3396 | c.-34 others(3407): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3389): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035 | 1 | 330 | 0.0030 | 3396 | c.227 others(3413): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GAAGGGGA others(3390): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0079 | a0079c0063 | a0079c0063t0001 | a0079c0063t0001g0032 | 1 | 186 | 0.0054 | 3397 | c.723 others(3414): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
NCOA7_chr6_125785960_125937034 | 125917196 | T | TAGAATCT others(3390): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0260 | 1 | 270 | 0.0037 | 3397 | c.224 others(3416): Show |
NCOA7 | ENSG00000111912.20 | transcript | ENST00000392477.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3390): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0205 | 1 | 216 | 0.0046 | 3397 | c.-51 others(3416): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPATA31C2_chr9_88124305_88143475 | 88137941 | G | GTCCTGGC others(3390): Show |
intron_variant | MODIFIER | NA18946.hp2 NA19057.hp1 |
a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0045 | 2 | 446 | 0.0045 | 3397 | c.189 others(3412): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3390): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0193 | 1 | 330 | 0.0030 | 3397 | c.227 others(3414): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3390): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0147 | 1 | 330 | 0.0030 | 3397 | c.227 others(3414): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706345 | G | GATAGATA others(3391): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0118 | 1 | 292 | 0.0034 | 3398 | c.228 others(3415): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3391): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0099 | 1 | 369 | 0.0027 | 3398 | c.-50 others(3409): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3391): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0095 | 1 | 369 | 0.0027 | 3398 | c.-50 others(3409): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706345 | G | GATAGATA others(3391): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0132 | 1 | 369 | 0.0027 | 3398 | c.-50 others(3409): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4855 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706345 | G | GATAGATA others(3391): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0120 | 1 | 369 | 0.0027 | 3398 | c.-50 others(3409): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4855 | chr4 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 309871 | T | TGAAATGA others(3391): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 155 | 0.0129 | 3398 | c.112 others(3417): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693729 | A | ACCACCTC others(3391): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 60 | 0.0167 | 3398 | c.299 others(3415): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TNFRSF6B_chr20_63691652_63703684 | 63693729 | A | ACCACCTC others(3391): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 33 | 0.0303 | 3398 | c.-30 others(3409): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2922 | chr20 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24849875 | T | TGAAAAAT others(3392): Show |
stop_gained others(1): Show |
HIGH | NA18959.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0076 | 1 | 322 | 0.0031 | 3399 | c.584 others(3406): Show |
p.Ser others(3412): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 6/11 | 753/9314 | 584/1161 | 195/386 | chr12 | TogoVar | ||
DOCK8_chr9_209865_470255 | 399997 | T | TCCACCAT others(3392): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0028 | a0028c0116 | a0028c0116t0002 | a0028c0116t0002g0233 | 1 | 256 | 0.0039 | 3399 | c.323 others(3416): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3392): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0114 | 1 | 268 | 0.0037 | 3399 | c.139 others(3420): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3392): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0104 | 1 | 282 | 0.0036 | 3399 | c.258 others(3416): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3392): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 310 | 0.0032 | 3399 | c.160 others(3418): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3392): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 310 | 0.0032 | 3399 | c.160 others(3418): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(3393): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289a0001c0001t0003g0290 | 2 | 328 | 0.0061 | 3400 | c.225 others(3417): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3393): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 268 | 0.0037 | 3400 | c.139 others(3421): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997234 | G | GGGGCGGG others(3393): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0361 | 1 | 375 | 0.0027 | 3400 | c.-22 others(3411): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 436 | chr6 | TogoVar |