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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(3295): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0026 | 1 | 40 | 0.0250 | 3302 | c.347 others(3323): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACTC others(3295): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 HG04115.hp2 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0002a0003c0010t0002 | a0001c0001t0002g0002a0003c0010t0002g0022 | 2 | 40 | 0.0500 | 3302 | c.*14 others(3313): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716361 | G | GTGGTGGT others(3295): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 170 | 0.0059 | 3302 | c.86- others(3315): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3295): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0111 | 1 | 282 | 0.0036 | 3302 | c.299 others(3317): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3296): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0093 | 1 | 236 | 0.0042 | 3303 | c.294 others(3320): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3296): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0048 | 1 | 170 | 0.0059 | 3303 | c.642 others(3320): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3296): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 | 1 | 268 | 0.0037 | 3303 | c.139 others(3324): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3296): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0020 | 1 | 268 | 0.0037 | 3303 | c.139 others(3324): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3297): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0165 | 1 | 268 | 0.0037 | 3304 | c.137 others(3321): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3297): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0036 | 1 | 170 | 0.0059 | 3304 | c.642 others(3321): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364429 | G | CCTTACAT others(3297): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 290 | 0.0035 | 3304 | c.129 others(3321): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3297): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0145 | 1 | 214 | 0.0047 | 3304 | c.206 others(3323): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
ZNF529_chr19_36538613_36578292 | 36558007 | T | TGGAAATT others(3297): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0091 | 1 | 368 | 0.0027 | 3304 | c.15- others(3319): Show |
ZNF529 | ENSG00000186020.13 | transcript | ENST00000591340.6 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
EIF4H_chr7_74169356_74202096 | 74186735 | T | TCTAAAAT others(3298): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 374 | 0.0027 | 3305 | c.60- others(3318): Show |
EIF4H | ENSG00000106682.16 | transcript | ENST00000265753.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CGGAGGGG others(3298): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0178 | 1 | 308 | 0.0033 | 3305 | c.157 others(3322): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323698 | G | GTGTGTAG others(3298): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0006 | 1 | 155 | 0.0065 | 3305 | c.-49 others(3316): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4903 | chrX | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3298): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG04204.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0004 | a0001c0001t0003g0091a0002c0003t0004g0242a0002c0003t0004g0243 | 3 | 268 | 0.0112 | 3305 | c.139 others(3326): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3298): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0006 | a0001c0006t0049 | a0001c0006t0049g0144 | 1 | 282 | 0.0036 | 3305 | c.258 others(3322): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3298): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0136 | 1 | 282 | 0.0036 | 3305 | c.258 others(3322): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1290081 | T | TCTGCTCC others(3299): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 295 | 0.0034 | 3306 | c.*34 others(3317): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2309 | chr1 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948017 | G | GTGGTGGT others(3299): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0082 | 1 | 136 | 0.0074 | 3306 | c.47- others(3323): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3299): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0073 | 1 | 170 | 0.0059 | 3306 | c.642 others(3323): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3299): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0034 | 1 | 170 | 0.0059 | 3306 | c.642 others(3323): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ARHGEF15_chr17_8305241_8327511 | 8305653 | T | TAAGAAAT others(3300): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0139 | 1 | 428 | 0.0023 | 3307 | c.-47 others(3318): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 4587 | chr17 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502044 | C | CCCCCCAC others(3300): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0060 | a0060c0120 | a0060c0120t0001 | a0060c0120t0001g0045 | 1 | 292 | 0.0034 | 3307 | c.218 others(3324): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NDUFA3_chr19_54097855_54112568 | 54105264 | C | CTTTTTTT others(3300): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 439 | 0.0023 | 3307 | c.86- others(3320): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
OSCAR_chr19_54089668_54105803 | 54105264 | C | CTTTTTTT others(3300): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0164 | 1 | 443 | 0.0023 | 3307 | c.-44 others(3318): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 4462 | chr19 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3300): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 216 | 0.0046 | 3307 | c.-51 others(3326): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TFPT_chr19_54102020_54120657 | 54105264 | C | CTTTTTTT others(3300): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 429 | 0.0023 | 3307 | c.*17 others(3318): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 1755 | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3301): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 334 | 0.0030 | 3308 | c.147 others(3325): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3301): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0116 | 1 | 170 | 0.0059 | 3308 | c.642 others(3325): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3301): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0117 | 1 | 170 | 0.0059 | 3308 | c.642 others(3325): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EIF4E_chr4_98874276_98934133 | 98893148 | A | AAAAAAAA others(3301): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02602.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0076a0001c0002t0003g0084 | 2 | 300 | 0.0067 | 3308 | c.126 others(3325): Show |
EIF4E | ENSG00000151247.13 | transcript | ENST00000450253.7 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
EIF4E_chr4_98874276_98934133 | 98893148 | A | AAAAAAAA others(3301): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0081a0001c0002t0003g0082a0001c0002t0003g0083others(2): Show | 5 | 300 | 0.0167 | 3308 | c.126 others(3325): Show |
EIF4E | ENSG00000151247.13 | transcript | ENST00000450253.7 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
EIF4E_chr4_98874276_98934133 | 98893148 | A | AAAAAAAA others(3301): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0078 | 1 | 300 | 0.0033 | 3308 | c.126 others(3325): Show |
EIF4E | ENSG00000151247.13 | transcript | ENST00000450253.7 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586454 | G | GGGGAAAG others(3301): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 308 | 0.0033 | 3308 | c.157 others(3325): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3301): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0106 | 1 | 282 | 0.0036 | 3308 | c.258 others(3325): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3301): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0261 | 1 | 282 | 0.0036 | 3308 | c.258 others(3325): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3301): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18963.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099a0001c0002t0002g0100a0001c0002t0002g0112others(1): Show | 4 | 282 | 0.0142 | 3308 | c.258 others(3325): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3301): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0129 | 1 | 282 | 0.0036 | 3308 | c.258 others(3325): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3301): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0222 | 1 | 282 | 0.0036 | 3308 | c.258 others(3325): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3301): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0214 | 1 | 282 | 0.0036 | 3308 | c.258 others(3325): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3301): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0004 | a0003c0004t0042 | a0003c0004t0042g0210 | 1 | 250 | 0.0040 | 3308 | c.-21 others(3325): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3301): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0004 | a0003c0004t0019 | a0003c0004t0019g0215 | 1 | 250 | 0.0040 | 3308 | c.-21 others(3325): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EIF4E_chr4_98874276_98934133 | 98893728 | C | CGGGTTGG others(3302): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0077 | 1 | 300 | 0.0033 | 3309 | c.126 others(3326): Show |
EIF4E | ENSG00000151247.13 | transcript | ENST00000450253.7 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3302): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 264 | 0.0038 | 3309 | c.400 others(3328): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3302): Show |
upstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 323 | 0.0031 | 3309 | c.-21 others(3320): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3302): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0262 | 1 | 282 | 0.0036 | 3309 | c.258 others(3326): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3302): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0054 | a0003c0004t0054g0217 | 1 | 250 | 0.0040 | 3309 | c.-21 others(3326): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ZBTB42_chr14_104796101_104809712 | 104806614 | A | ACCAGCAT others(3302): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0000 | 1 | 99 | 0.0101 | 3309 | c.*41 others(3320): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 1903 | chr14 | TogoVar |