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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VIPR2_chr7_159023175_159149867 | 159093738 | CGCAGCGT others(61): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 NA21309.hp2 |
a0002 | a0002c0011 | a0002c0011t0015 | a0002c0011t0015g0008a0002c0011t0015g0023a0002c0011t0015g0075 | 3 | 336 | 0.0089 | -68 | c.357 others(86): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99849909 | GTACATAC others(61): Show |
G | intron_variant | MODIFIER | NA19064.hp1 | a0011 | a0011c0026 | a0011c0026t0003 | a0011c0026t0003g0127 | 1 | 134 | 0.0075 | -68 | c.100 others(89): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS4A_chr16_69306350_69331939 | 69325359 | TGCCGCTA others(61): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(16): Show | a0001c0001t0002g0162a0001c0001t0002g0163a0001c0002t0002g0005others(80): Show | 102 | 366 | 0.2787 | -68 | c.*11 others(79): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 11/11 | 1120 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
VSIR_chr10_71742556_71778520 | 71751331 | CCCCTCAC others(61): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00639.hp1 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0039others(28): Show | a0001c0001t0003g0148a0001c0001t0009g0044a0001c0001t0039g0255others(31): Show | 37 | 462 | 0.0801 | -68 | c.899 others(82): Show |
VSIR | ENSG00000107738.20 | transcript | ENST00000394957.8 | protein_coding | 6/6 | chr10 | TogoVar | ||||||
WASHC2C_chr10_45722266_45797964 | 45789812 | TACAGCTC others(61): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02572.hp2 others(3): Show |
a0007a0008 | a0007c0007a0008c0008 | a0007c0007t0001a0008c0008t0001 | a0007c0007t0001g0287a0007c0007t0001g0288a0007c0007t0001g0289others(3): Show | 6 | 380 | 0.0158 | -68 | c.370 others(85): Show |
WASHC2C | ENSG00000172661.20 | transcript | ENST00000623400.4 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
WDR18_chr19_979345_999557 | 989021 | CCCCCACA others(61): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01978.hp1 others(21): Show |
a0001 | a0001c0002a0001c0007a0001c0009others(2): Show | a0001c0002t0001a0001c0007t0002a0001c0009t0001others(2): Show | a0001c0002t0001g0017a0001c0002t0001g0018a0001c0002t0001g0028others(11): Show | 24 | 456 | 0.0526 | -68 | c.322 others(83): Show |
WDR18 | ENSG00000065268.11 | transcript | ENST00000585809.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
WWOX_chr16_78094654_79217667 | 78321338 | GTATATAT others(61): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 HG01346.hp1 others(11): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0005a0007c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0054a0001c0001t0001g0085others(11): Show | 14 | 142 | 0.0986 | -68 | c.517 others(87): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
WWOX_chr16_78094654_79217667 | 78422742 | TATATACA others(61): Show |
T | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 142 | 0.0070 | -68 | c.606 others(85): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
XIRP2_chr2_166883480_167264753 | 167264460 | AGAATCTA others(61): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 190 | 0.0053 | -68 | c.*66 others(79): Show |
XIRP2 | ENSG00000163092.22 | transcript | ENST00000409195.6 | protein_coding | 4708 | chr2 | TogoVar | ||||||
XXYLT1_chr3_195063284_195276159 | 195145438 | TGGCACTG others(61): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 198 | 0.0051 | -68 | c.785 others(87): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
YTHDC2_chr5_113508694_113600284 | 113587397 | ATAATATA others(61): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 316 | 0.0032 | -68 | c.382 others(87): Show |
YTHDC2 | ENSG00000047188.16 | transcript | ENST00000161863.9 | protein_coding | 26/29 | chr5 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157522822 | TCCCTCCC others(61): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0027 | 1 | 188 | 0.0053 | -68 | c.246 others(87): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157522827 | CCCTCCCT others(61): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02056.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(1): Show | a0001c0001t0001g0170a0001c0001t0010g0165a0001c0002t0001g0086others(2): Show | 5 | 188 | 0.0266 | -68 | c.246 others(87): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ZDHHC14_chr6_157376190_157683157 | 157522852 | TCCTCCCT others(61): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01168.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0065a0001c0001t0001g0083others(4): Show | 7 | 188 | 0.0372 | -68 | c.246 others(87): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ZFAND3_chr6_37814727_38159624 | 38041725 | TCCTCCTC others(61): Show |
T | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 318 | 0.0031 | -68 | c.113 others(87): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
ZFP41_chr8_143241939_143267705 | 143255781 | GTGAGATC others(61): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0002t0007a0001c0002t0057others(6): Show | a0001c0001t0007g0009a0001c0002t0007g0009a0001c0002t0007g0030others(11): Show | 22 | 316 | 0.0696 | -68 | c.*90 others(87): Show |
ZFP41 | ENSG00000181638.20 | transcript | ENST00000330701.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ZFP64_chr20_52146278_52196779 | 52167425 | ACTACTTT others(61): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(90): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(9): Show | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0088others(70): Show | 93 | 364 | 0.2555 | -68 | c.287 others(85): Show |
ZFP64 | ENSG00000020256.20 | transcript | ENST00000216923.5 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
ZIM3_chr19_57129096_57150202 | 57137934 | GGAAGGAA others(61): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(62): Show |
a0002a0011 | a0002c0002a0002c0013a0002c0023others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(4): Show | a0002c0002t0001g0046a0002c0002t0001g0166a0002c0002t0001g0171others(26): Show | 65 | 418 | 0.1555 | -68 | c.142 others(83): Show |
ZIM3 | ENSG00000141946.1 | transcript | ENST00000269834.1 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
ZMAT4_chr8_40525590_40902826 | 40601641 | AAAGAAAG others(61): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02258.hp2 NA19081.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0010a0001c0001t0001g0055a0002c0002t0002g0085 | 3 | 228 | 0.0132 | -68 | c.578 others(87): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | ||||||
ZNF225_chr19_44108399_44139822 | 44133773 | TAGAGATA others(61): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02129.hp2 HG02602.hp2 HG02615.hp1 others(6): Show |
a0003a0018 | a0003c0003a0018c0019 | a0003c0003t0006a0018c0019t0006 | a0003c0003t0006g0037a0003c0003t0006g0050a0003c0003t0006g0051others(4): Show | 9 | 404 | 0.0223 | -68 | c.*11 others(79): Show |
ZNF225 | ENSG00000256294.8 | transcript | ENST00000262894.11 | protein_coding | 5/5 | 1106 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
ZNF440_chr19_11809273_11840216 | 11811896 | AAAAGAAA others(61): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02145.hp1 HG02896.hp2 others(3): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0003a0003c0006t0003 | a0003c0003t0003g0016a0003c0003t0003g0027a0003c0003t0003g0078others(2): Show | 6 | 376 | 0.0160 | -68 | c.-25 others(79): Show |
ZNF440 | ENSG00000171295.13 | transcript | ENST00000304060.10 | protein_coding | 2376 | chr19 | TogoVar | ||||||
ZNF491_chr19_11793523_11813503 | 11811896 | AAAAGAAA others(61): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG02145.hp2 HG02895.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0015 | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0018others(4): Show | 10 | 390 | 0.0256 | -68 | c.*46 others(79): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3394 | chr19 | TogoVar | ||||||
ZNF511_chr10_133303914_133318161 | 133317945 | CACCCCCC others(61): Show |
C | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 282 | 0.0036 | -68 | c.*50 others(79): Show |
ZNF511 | ENSG00000198546.15 | transcript | ENST00000361518.10 | protein_coding | 4785 | chr10 | TogoVar | ||||||
ZNF511_chr10_133303914_133318161 | 133317946 | ACCCCCCC others(61): Show |
A | downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 282 | 0.0036 | -68 | c.*50 others(79): Show |
ZNF511 | ENSG00000198546.15 | transcript | ENST00000361518.10 | protein_coding | 4786 | chr10 | TogoVar | ||||||
ZNF511_chr10_133303914_133318161 | 133317980 | CCTCCCCC others(61): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 282 | 0.0036 | -68 | c.*51 others(79): Show |
ZNF511 | ENSG00000198546.15 | transcript | ENST00000361518.10 | protein_coding | 4820 | chr10 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393534 | GGGGGCAG others(61): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0012 | a0001c0012t0205 | a0001c0012t0205g0121 | 1 | 346 | 0.0029 | -68 | c.181 others(89): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76394500 | GGGTGGTC others(61): Show |
G | intron_variant | MODIFIER | HG02523.hp2 | a0016 | a0016c0035 | a0016c0035t0016 | a0016c0035t0016g0311 | 1 | 346 | 0.0029 | -68 | c.181 others(89): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76394673 | GGGGGGAA others(61): Show |
G | intron_variant | MODIFIER | NA18982.hp2 | a0003 | a0003c0007 | a0003c0007t0133 | a0003c0007t0133g0298 | 1 | 346 | 0.0029 | -68 | c.181 others(89): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF532_chr18_58859877_58991480 | 58987154 | CTCACGCC others(61): Show |
C | downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 354 | 0.0028 | -68 | c.*26 others(79): Show |
ZNF532 | ENSG00000074657.14 | transcript | ENST00000591808.6 | protein_coding | 675 | chr18 | TogoVar | ||||||
ZNF571_chr19_37559260_37599792 | 37563751 | AATATATT others(61): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01192.hp1 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0020a0003c0003t0001g0002a0004c0004t0001g0008others(7): Show | 14 | 342 | 0.0409 | -68 | c.*77 others(77): Show |
ZNF571 | ENSG00000180479.15 | transcript | ENST00000451802.7 | protein_coding | 508 | chr19 | TogoVar | ||||||
ZNF585B_chr19_37176579_37215536 | 37213968 | CCCAGGCT others(61): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0177 | 1 | 352 | 0.0028 | -68 | c.-37 others(79): Show |
ZNF585B | ENSG00000245680.11 | transcript | ENST00000532828.7 | protein_coding | 3433 | chr19 | TogoVar | ||||||
ZNF679_chr7_64223474_64271931 | 64236933 | GAAAGAAA others(61): Show |
G | intron_variant | MODIFIER | HG01516.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0178 | 1 | 422 | 0.0024 | -68 | c.-91 others(85): Show |
ZNF679 | ENSG00000197123.9 | transcript | ENST00000421025.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZNF713_chr7_55882456_55947225 | 55887716 | CGGAGGCG others(61): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02056.hp2 HG03453.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0034a0001c0001t0035a0001c0002t0001others(1): Show | a0001c0001t0034g0337a0001c0001t0034g0338a0001c0001t0035g0398others(2): Show | 5 | 410 | 0.0122 | -68 | c.-58 others(84): Show |
ZNF713 | ENSG00000178665.16 | transcript | ENST00000429591.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZNF732_chr4_265675_310474 | 299371 | GTATATAT others(61): Show |
G | intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 326 | 0.0031 | -68 | c.4-3 others(81): Show |
ZNF732 | ENSG00000186777.13 | transcript | ENST00000419098.6 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ZSCAN22_chr19_58321994_58347332 | 58326569 | GCCTCACA others(61): Show |
G | upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 400 | 0.0025 | -68 | c.-59 others(77): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 424 | chr19 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803103 | TATATATA others(61): Show |
T | intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 | 1 | 352 | 0.0028 | -68 | c.169 others(86): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95196670 | AAGGAAGG others(60): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0053 | a0001c0053t0012 | a0001c0053t0012g0072 | 1 | 248 | 0.0040 | -67 | c.116 others(86): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42298550 | CAATTTCA others(60): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0004a0001c0001t0014a0001c0012t0004 | a0001c0001t0004g0279a0001c0001t0014g0062a0001c0012t0004g0276 | 3 | 354 | 0.0085 | -67 | c.*21 others(78): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1307 | chr21 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1031805 | CAGTCCCG others(60): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0321 | 1 | 337 | 0.0030 | -67 | c.179 others(88): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1121514 | CAGCTGCT others(60): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01891.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(20): Show | a0001c0001t0001g0133a0001c0001t0003g0121a0001c0001t0003g0237others(23): Show | 26 | 337 | 0.0772 | -67 | c.246 others(84): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1146745 | TGCCACCA others(60): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 HG02523.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0187a0001c0001t0004g0257a0001c0001t0004g0293others(7): Show | 10 | 337 | 0.0297 | -67 | c.62- others(84): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289805 | CCGTGTCT others(60): Show |
C | downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 295 | 0.0034 | -67 | c.*36 others(78): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2585 | chr1 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33688357 | AAATGATT others(60): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(73): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0016others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0059others(73): Show | 76 | 224 | 0.3393 | -67 | c.635 others(84): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277885 | CCCTGCGA others(60): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0024 | 1 | 276 | 0.0036 | -67 | c.535 others(84): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 906709 | CGGGACAT others(60): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01993.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0013 | 3 | 14 | 0.2143 | -67 | c.389 others(84): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 933522 | GCCGGGGG others(60): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 14 | 0.0714 | -67 | c.213 others(84): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1642205 | TTCAAAAG others(60): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 |
a0001a0008 | a0001c0003a0008c0013 | a0001c0003t0039a0008c0013t0020 | a0001c0003t0039g0044a0008c0013t0020g0037 | 2 | 106 | 0.0189 | -67 | c.100 others(86): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADCY4_chr14_24313359_24340071 | 24314936 | GACAGATC others(60): Show |
G | downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0289 | 1 | 438 | 0.0023 | -67 | c.*34 others(78): Show |
ADCY4 | ENSG00000129467.14 | transcript | ENST00000418030.7 | protein_coding | 3422 | chr14 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68875095 | CTCCTTCC others(60): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01496.hp2 HG01516.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0067a0001c0001t0002g0100a0001c0001t0002g0103others(11): Show | 14 | 120 | 0.1167 | -67 | c.758 others(86): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRE5_chr19_14376444_14413723 | 14377333 | CTAATATA others(60): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(311): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0005others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0013others(304): Show | 314 | 374 | 0.8396 | -67 | c.-41 others(78): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 4110 | chr19 | TogoVar |