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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB4_chr7_95480943_95545233 | 95515163 | CTTTCTCT others(9): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03017.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0006others(1): Show | a0001c0001t0001g0358a0001c0001t0006g0155a0002c0002t0006g0035others(1): Show | 4 | 388 | 0.0103 | -16 | c.488 others(35): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB4_chr7_95480943_95545233 | 95515167 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01361.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0308a0001c0001t0013g0195a0001c0001t0013g0196others(1): Show | 4 | 388 | 0.0103 | -16 | c.488 others(35): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB4_chr7_95480943_95545233 | 95515267 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG03540.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0044 | 2 | 388 | 0.0052 | -16 | c.488 others(35): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASCC1_chr10_72091032_72221276 | 72218159 | AAAAAAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 216 | 0.0046 | -16 | c.-20 others(27): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1884 | chr10 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72218161 | AAAAAATA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01192.hp1 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0069a0001c0001t0001g0083a0001c0001t0001g0089others(4): Show | 7 | 216 | 0.0324 | -16 | c.-20 others(27): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1886 | chr10 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72218163 | AAAATATA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02896.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0092a0001c0001t0001g0162a0001c0001t0002g0102others(1): Show | 4 | 216 | 0.0185 | -16 | c.-20 others(27): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1888 | chr10 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72218165 | AATATATA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01884.hp2 NA18943.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0001g0093a0001c0001t0001g0106others(4): Show | 7 | 216 | 0.0324 | -16 | c.-20 others(27): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1890 | chr10 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29818403 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02735.hp2 HG03490.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0005 | a0001c0001t0001g0201a0001c0001t0001g0203a0001c0001t0001g0228others(5): Show | 8 | 372 | 0.0215 | -16 | c.542 others(33): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 5/19 | chr22 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100532394 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 314 | 0.0032 | -16 | c.577 others(35): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 37/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100560748 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 314 | 0.0032 | -16 | c.555 others(37): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 36/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608218 | ATATACTT others(9): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0014 | a0014c0024 | a0014c0024t0001 | a0014c0024t0001g0294 | 1 | 314 | 0.0032 | -16 | c.478 others(35): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608713 | ATTTTATA others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0292a0005c0007t0001g0293 | 2 | 314 | 0.0064 | -16 | c.478 others(35): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100723860 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 314 | 0.0032 | -16 | c.190 others(35): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | ||||||
ASCL1_chr12_102952674_102965513 | 102962440 | CTCTTTCT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 354 | 0.0028 | -16 | c.*31 others(27): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1928 | chr12 | TogoVar | ||||||
ASDURF_chr2_189656459_189671401 | 189665596 | GTGTATAT others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(105): Show |
a0000a0001a0002 | a0000c0003a0001c0001a0002c0002 | a0000c0003t0002a0001c0001t0001a0001c0001t0002others(1): Show | a0000c0003t0002g0001a0001c0001t0001g0032a0001c0001t0002g0001others(13): Show | 108 | 340 | 0.3177 | -16 | c.220 others(31): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASF1A_chr6_118889152_118914171 | 118898112 | AGCTTGGA others(9): Show |
A | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 400 | 0.0025 | -16 | c.110 others(33): Show |
ASF1A | ENSG00000111875.8 | transcript | ENST00000229595.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
ASGR1_chr17_7168431_7184370 | 7183611 | AAAATAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG03486.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0044a0001c0001t0001g0100a0001c0003t0001g0098 | 4 | 442 | 0.0091 | -16 | c.-44 others(27): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 4242 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7118481 | GAGGAAGG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02148.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0054a0001c0001t0005g0267 | 2 | 432 | 0.0046 | -16 | c.-39 others(27): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3660 | chr17 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155332458 | GTGTATAT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010a0001c0001t0005g0011a0001c0001t0005g0012 | 3 | 182 | 0.0165 | -16 | c.*51 others(27): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2809 | chr1 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155490968 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01069.hp2 others(36): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0010a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0016others(9): Show | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0025others(36): Show | 39 | 182 | 0.2143 | -16 | c.421 others(33): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38121333 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0023a0001c0003t0002g0260a0001c0003t0002g0261others(1): Show | 4 | 330 | 0.0121 | -16 | c.116 others(33): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASIC1_chr12_50052596_50088611 | 50069256 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02486.hp2 others(10): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0003t0004a0001c0007t0001 | a0001c0003t0001g0028a0001c0003t0001g0061a0001c0003t0001g0068others(9): Show | 13 | 324 | 0.0401 | -16 | c.559 others(33): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ASIC1_chr12_50052596_50088611 | 50074860 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00639.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0031others(8): Show | 34 | 324 | 0.1049 | -16 | c.559 others(33): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ASIC2_chr17_33008087_33298295 | 33044259 | TACCCATC others(9): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0105 | 1 | 240 | 0.0042 | -16 | c.988 others(35): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33044261 | CCCATCCA others(9): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0005 | a0001c0001t0020g0021a0001c0002t0005g0094 | 2 | 240 | 0.0083 | -16 | c.988 others(35): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33172954 | CTCCTGTG others(9): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0238 | 1 | 240 | 0.0042 | -16 | c.709 others(35): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33233514 | TCACACAC others(9): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 240 | 0.0042 | -16 | c.708 others(35): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33288715 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00621.hp2 others(19): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0002t0002g0140a0001c0004t0001g0001a0001c0004t0001g0157others(18): Show | 22 | 240 | 0.0917 | -16 | c.708 others(33): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33297823 | AAAATAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 240 | 0.0042 | -16 | c.-57 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 4529 | chr17 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219534764 | GCCATCCA others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(59): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(5): Show | a0001c0001t0001g0145a0001c0001t0001g0154a0001c0002t0001g0026others(35): Show | 62 | 372 | 0.1667 | -16 | c.107 others(33): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASL_chr7_66070819_66098576 | 66074720 | CTTTCTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 316 | 0.0032 | -16 | c.-11 others(27): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1098 | chr7 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1447999 | CCACCATC others(9): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG03041.hp1 |
a0003a0010a0016 | a0003c0002a0010c0041a0016c0028 | a0003c0002t0001a0010c0041t0001a0016c0028t0001 | a0003c0002t0001g0159a0010c0041t0001g0161a0016c0028t0001g0160 | 3 | 185 | 0.0162 | -16 | c.93+ others(31): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1618108 | ACCTGGGA others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG02886.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0123others(2): Show | 5 | 223 | 0.0224 | -16 | c.69+ others(31): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATAT others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0032a0001c0001t0002g0001a0001c0001t0002g0012others(14): Show | 109 | 340 | 0.3206 | -16 | c.-93 others(31): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASNS_chr7_97846677_97877408 | 97859973 | ACAGACAG others(9): Show |
A | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 436 | 0.0023 | -16 | c.488 others(31): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438536 | TACACATA others(9): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG01167.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0146a0001c0001t0002g0199a0001c0001t0003g0015others(6): Show | 16 | 428 | 0.0374 | -16 | c.887 others(33): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438558 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 428 | 0.0023 | -16 | c.887 others(33): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61561083 | GGAGGGAG others(9): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01928.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0062a0001c0001t0001g0107a0001c0001t0004g0246others(6): Show | 9 | 258 | 0.0349 | -16 | c.143 others(35): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362505 | ATATAACA others(9): Show |
A | intron_variant | MODIFIER | HG02056.hp1 NA18939.hp2 |
a0001 | a0001c0005 | a0001c0005t0040a0001c0005t0041 | a0001c0005t0040g0314a0001c0005t0041g0313 | 2 | 370 | 0.0054 | -16 | c.491 others(33): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62362510 | ACATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0038 | a0001c0001t0021g0335a0001c0001t0021g0337a0001c0001t0038g0338 | 3 | 370 | 0.0081 | -16 | c.491 others(33): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01243.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0008a0002c0004t0034 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0080others(2): Show | 5 | 370 | 0.0135 | -16 | c.491 others(33): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62375428 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01257.hp2 HG01258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0050a0001c0001t0001g0051others(12): Show | 15 | 370 | 0.0405 | -16 | c.492 others(35): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62375466 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02027.hp2 HG03710.hp2 NA18955.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0293a0001c0002t0003g0294a0001c0002t0003g0297others(4): Show | 7 | 370 | 0.0189 | -16 | c.492 others(35): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130445222 | GCGGGGGC others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(334): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(318): Show | 337 | 374 | 0.9011 | -16 | c.-6+ others(29): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130485202 | GGCGATGC others(9): Show |
G | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 374 | 0.0027 | -16 | c.839 others(33): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130501278 | AGTGTGTG others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0001t0001g0165others(1): Show | 4 | 374 | 0.0107 | -16 | c.*25 others(25): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5 | chr9 | TogoVar | ||||||
ASTE1_chr3_131008875_131031825 | 131017969 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 11 | 404 | 0.0272 | -16 | c.151 others(33): Show |
ASTE1 | ENSG00000034533.12 | transcript | ENST00000264992.8 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176942818 | GTGTATAT others(9): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02486.hp2 |
a0001a0002 | a0001c0002a0002c0011 | a0001c0002t0002a0002c0011t0001 | a0001c0002t0002g0108a0002c0011t0001g0015 | 2 | 112 | 0.0179 | -16 | c.237 others(35): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177027713 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp1 others(12): Show |
a0001a0002a0005 | a0001c0006a0002c0004a0005c0013 | a0001c0006t0001a0001c0006t0002a0001c0006t0010others(2): Show | a0001c0006t0001g0063a0001c0006t0002g0037a0001c0006t0002g0044others(12): Show | 15 | 112 | 0.1339 | -16 | c.112 others(35): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 5/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177056572 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG03834.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002 | a0001c0001t0001g0048a0001c0006t0002g0044 | 2 | 112 | 0.0179 | -16 | c.471 others(33): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar |