view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAP3_chr1_23423563_23489179 | 23464659 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01517.hp1 HG02074.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(21): Show |
27 | 50 | 0.5400 | -12 | c.130 others(29): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
ASB11_chrX_15276697_15320640 | 15305597 | TTAGATAG others(5): Show |
T | intron_variant | MODIFIER | NA18993.hp2 | a0007 | a0007c0006 | a0007c0006t0011 | a0007c0006t0011g0061 | 1 | 102 | 0.0098 | -12 | c.182 others(29): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB12_chrX_64219194_64235607 | 64235197 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG01255.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show |
27 | 45 | 0.6000 | -12 | c.-47 others(23): Show |
ASB12 | ENSG00000198881.10 | transcript | ENST00000362002.3 | protein_coding | 4591 | chrX | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123611082 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0081 | 1 | 139 | 0.0072 | -12 | c.-3+ others(27): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620497 | CATATACA others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp2 NA18984.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 a0001c0002t0001g0132 |
2 | 378 | 0.0053 | -12 | c.451 others(29): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620503 | CATACATA others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01952.hp1 HG01981.hp2 others(1): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0002 | a0001c0002t0001g0098 a0001c0002t0001g0138 a0003c0005t0002g0035 others(1): Show |
4 | 358 | 0.0112 | -12 | c.451 others(29): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620546 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp1 NA18944.hp1 NA18945.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0004a0003c0005t0002 | a0001c0001t0004g0027 a0001c0001t0004g0126 a0003c0005t0002g0200 others(1): Show |
5 | 364 | 0.0137 | -12 | c.451 others(29): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620548 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0159 a0001c0001t0004g0259 |
2 | 359 | 0.0056 | -12 | c.451 others(29): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620550 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG03710.hp2 NA18522.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0013 | a0001c0001t0003g0225 a0001c0001t0010g0232 a0001c0001t0013g0003 |
3 | 356 | 0.0084 | -12 | c.451 others(29): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620552 | ATATTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02080.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 a0001c0001t0010g0062 |
2 | 353 | 0.0057 | -12 | c.451 others(29): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123623927 | AAAGAAAA others(5): Show |
A | intron_variant | MODIFIER | HG03688.hp2 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0241 a0001c0001t0004g0195 |
2 | 371 | 0.0054 | -12 | c.452 others(27): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123623930 | GAAAAGAA others(5): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0184 | 1 | 371 | 0.0027 | -12 | c.452 others(27): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123623931 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp2 others(47): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0147 others(46): Show |
50 | 113 | 0.4425 | -12 | c.452 others(27): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236246346 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0009 | a0009c0026 | a0009c0026t0003 | a0009c0026t0003g0242 | 1 | 75 | 0.0133 | -12 | c.206 others(29): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236252267 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(18): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0203 a0001c0001t0001g0204 others(16): Show |
21 | 52 | 0.4038 | -12 | c.206 others(31): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ASB3_chr2_53664980_53791953 | 53721123 | TATAAATA others(5): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG03041.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0039 a0001c0001t0001g0123 a0001c0003t0002g0295 |
3 | 196 | 0.0153 | -12 | c.605 others(29): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 5/9 | chr2 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95493380 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(50): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(47): Show |
53 | 386 | 0.1373 | -12 | c.188 others(29): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95513253 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03195.hp1 HG03516.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0027 a0001c0001t0008g0206 a0001c0001t0008g0297 |
3 | 139 | 0.0216 | -12 | c.488 others(31): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95515163 | CTTTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01261.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0185 a0001c0001t0001g0332 a0001c0001t0002g0295 others(7): Show |
10 | 370 | 0.0270 | -12 | c.488 others(31): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95515167 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02257.hp2 HG03942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0161 others(2): Show |
5 | 216 | 0.0231 | -12 | c.488 others(31): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95515267 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03209.hp1 HG03579.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0243 a0001c0001t0002g0052 a0001c0001t0002g0133 others(5): Show |
8 | 255 | 0.0314 | -12 | c.488 others(31): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95515308 | TCTTTCTT others(5): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0315 | 1 | 368 | 0.0027 | -12 | c.488 others(31): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95518852 | GAGATAAA others(5): Show |
G | intron_variant | MODIFIER | HG00609.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 a0001c0001t0001g0359 |
2 | 386 | 0.0052 | -12 | c.488 others(29): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219575 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0125 a0001c0002t0001g0086 a0001c0002t0001g0087 others(3): Show |
6 | 155 | 0.0387 | -12 | c.670 others(29): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72141036 | TATAGATA others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG03225.hp2 others(1): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0005a0005c0005t0005 | a0004c0004t0005g0185 a0004c0004t0005g0197 a0005c0005t0005g0011 others(1): Show |
4 | 74 | 0.0541 | -12 | c.747 others(29): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218159 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 207 | 0.0048 | -12 | c.-19 others(23): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1884 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218161 | AAAAAATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 NA19007.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0002g0097 a0001c0001t0002g0113 |
3 | 182 | 0.0165 | -12 | c.-20 others(23): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1886 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218163 | AAAATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01934.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 a0001c0001t0002g0142 |
2 | 183 | 0.0109 | -12 | c.-20 others(23): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1888 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218165 | AATATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01978.hp2 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0132 others(2): Show |
5 | 170 | 0.0294 | -12 | c.-20 others(23): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1890 | chr10 | TogoVar | |||||||
ASCC2_chr22_29783611_29843274 | 29818403 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01358.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0005a0003c0003t0001others(1): Show | a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0230 others(9): Show |
12 | 33 | 0.3636 | -12 | c.542 others(29): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100560748 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02615.hp1 HG02809.hp2 others(2): Show |
a0008a0009a0017 | a0008c0012a0008c0025a0009c0037others(1): Show | a0008c0012t0009a0008c0025t0017a0009c0037t0002others(1): Show | a0008c0012t0009g0312 a0008c0012t0009g0313 a0008c0025t0017g0227 others(2): Show |
5 | 98 | 0.0510 | -12 | c.555 others(33): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 36/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100687028 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01081.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 others(19): Show |
22 | 293 | 0.0751 | -12 | c.215 others(31): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 13/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100723860 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(36): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0011a0001c0029others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(36): Show |
39 | 91 | 0.4286 | -12 | c.190 others(31): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100744257 | TTATACCA others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0102 | 1 | 312 | 0.0032 | -12 | c.173 others(33): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100745952 | GACATAGA others(5): Show |
G | intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0014 | 1 | 312 | 0.0032 | -12 | c.173 others(33): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100745968 | CATGGTAT others(5): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0118 | 1 | 312 | 0.0032 | -12 | c.173 others(33): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102958393 | CGCAGCAG others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG03704.hp1 | a0013 | a0013c0021 | a0013c0021t0001 | a0013c0021t0001g0001 | 1 | 219 | 0.0046 | -12 | c.175 others(19): Show |
p.Gln others(11): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1/2 | 746/2481 | 175/711 | 59/236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ASCL2_chr11_2263498_2275588 | 2271069 | ACGCCCCA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 418 | 0.0024 | -12 | c.-74 others(21): Show |
ASCL2 | ENSG00000183734.5 | transcript | ENST00000331289.5 | protein_coding | 482 | chr11 | TogoVar | |||||||
ASDURF_chr2_189656459_189671401 | 189665596 | GTGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG01106.hp1 HG01109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0002g0010 a0001c0001t0002g0030 others(2): Show |
13 | 96 | 0.1354 | -12 | c.220 others(27): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASF1A_chr6_118889152_118914171 | 118908559 | ATTTTCAC others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0003 | 1 | 398 | 0.0025 | -12 | c.*94 others(21): Show |
ASF1A | ENSG00000111875.8 | transcript | ENST00000229595.6 | protein_coding | 4/4 | 947 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ASF1B_chr19_14114512_14141589 | 14129678 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01981.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0002 | a0001c0001t0007g0236 a0001c0002t0002g0182 |
2 | 24 | 0.0833 | -12 | c.110 others(29): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ASGR1_chr17_7168431_7184370 | 7178726 | TTTTTTTC others(5): Show |
T | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 440 | 0.0023 | -12 | c.-25 others(27): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
ASGR1_chr17_7168431_7184370 | 7183611 | AAAATAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01993.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0069 others(1): Show |
6 | 150 | 0.0400 | -12 | c.-44 others(23): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 4242 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7118481 | GAGGAAGG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02486.hp2 HG02886.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0173 a0001c0001t0002g0002 others(9): Show |
14 | 266 | 0.0526 | -12 | c.-39 others(23): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3660 | chr17 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155332458 | GTGTATAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0128 |
2 | 74 | 0.0270 | -12 | c.*51 others(23): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2809 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155332460 | GTATATAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02886.hp1 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0083 a0002c0002t0001g0087 |
2 | 37 | 0.0541 | -12 | c.*51 others(23): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2807 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155357078 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01175.hp1 NA20129.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0041 a0001c0001t0001g0119 a0001c0010t0001g0033 |
3 | 28 | 0.1071 | -12 | c.705 others(29): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 15/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411578 | AATAAATA others(5): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0011 | a0011c0014 | a0011c0014t0002 | a0011c0014t0002g0172 | 1 | 172 | 0.0058 | -12 | c.600 others(31): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 23 | 0.0435 | -12 | c.600 others(31): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155458717 | AAACCAAC others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 155 | 0.0065 | -12 | c.508 others(31): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 4/27 | chr1 | TogoVar |