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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOX2_chr3_58500136_58542190 | 58527536 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00738.hp1 others(70): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0001a0001c0003t0002a0001c0004t0001others(11): Show | a0001c0002t0001g0006 a0001c0002t0001g0025 a0001c0002t0001g0026 others(58): Show |
73 | 320 | 0.2281 | 13 | c.115 others(30): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110995499 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 22 | 0.0455 | 13 | c.117 others(30): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111003550 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0010t0002 | a0001c0001t0001g0128 a0001c0001t0002g0055 a0001c0010t0002g0008 |
3 | 19 | 0.1579 | 13 | c.128 others(32): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11572148 | C | CAAAAAAG others(6): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0069 |
2 | 442 | 0.0045 | 13 | c.*28 others(24): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 2511 | chr19 | TogoVar | |||||||
ACP5_chr19_11569660_11582645 | 11579613 | G | GGGGGGGG others(6): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0075 | 1 | 442 | 0.0023 | 13 | c.-20 others(24): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 1969 | chr19 | TogoVar | |||||||
ACP6_chr1_147637230_147675524 | 147673342 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 HG02683.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0160 others(2): Show |
7 | 215 | 0.0326 | 13 | c.-32 others(24): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 2819 | chr1 | TogoVar | |||||||
ACRV1_chr11_125666522_125685847 | 125678974 | C | CATTATAT others(6): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02735.hp1 HG02818.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0009 | a0002c0002t0003g0012 a0002c0002t0009g0074 |
5 | 412 | 0.0121 | 13 | c.53- others(26): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78235958 | A | ACACACAC others(6): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0054 | 1 | 17 | 0.0588 | 13 | c.-14 others(24): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1394 | chr15 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6192071 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0131 | 1 | 98 | 0.0102 | 13 | c.*36 others(28): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89147524 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18941.hp2 NA18977.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0040 | a0002c0002t0006g0113 a0002c0002t0006g0117 a0002c0002t0006g0137 others(2): Show |
5 | 84 | 0.0595 | 13 | c.161 others(32): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSL3_chr2_222856036_222949639 | 222901964 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00735.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0127 a0001c0001t0002g0142 a0001c0001t0002g0154 others(26): Show |
29 | 46 | 0.6304 | 13 | c.-41 others(30): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 3/16 | chr2 | TogoVar | |||||||
ACSL3_chr2_222856036_222949639 | 222947284 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01192.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0017others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 others(12): Show |
15 | 34 | 0.4412 | 13 | c.*56 others(24): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 2646 | chr2 | TogoVar | |||||||
ACSL3_chr2_222856036_222949639 | 222949012 | G | GCACACGC others(6): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 250 | 0.0040 | 13 | c.*73 others(24): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 4374 | chr2 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112423219 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 148 | 0.0068 | 13 | c.159 others(30): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | chr10 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0247 | 1 | 170 | 0.0059 | 13 | c.612 others(28): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0304 | 1 | 170 | 0.0059 | 13 | c.612 others(28): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0139 | 1 | 170 | 0.0059 | 13 | c.612 others(28): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTTATATA others(6): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0018 | a0002c0018t0005 | a0002c0018t0005g0073 | 1 | 34 | 0.0294 | 13 | c.-8- others(28): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20567520 | A | AAAGTAAT others(6): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 386 | 0.0026 | 13 | c.-8- others(28): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20798161 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 354 | 0.0028 | 13 | c.*11 others(24): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 581 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20430781 | A | AGGAAAGA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(57): Show |
a0003a0006a0011others(1): Show | a0003c0003a0006c0005a0011c0013others(1): Show | a0003c0003t0001a0003c0003t0003a0006c0005t0003others(4): Show | a0003c0003t0001g0142 a0003c0003t0001g0205 a0003c0003t0003g0002 others(41): Show |
60 | 432 | 0.1389 | 13 | c.112 others(30): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34879528 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0145 | 1 | 309 | 0.0032 | 13 | c.178 others(30): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | chr20 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81172259 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03209.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0020a0001c0005t0007 | a0001c0001t0020g0061 a0001c0005t0007g0003 a0001c0005t0007g0011 others(1): Show |
4 | 83 | 0.0482 | 13 | c.109 others(32): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81251668 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG00741.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0003a0001c0001t0010a0001c0001t0027others(4): Show | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0236 others(24): Show |
27 | 189 | 0.1429 | 13 | c.172 others(32): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229435461 | C | CTCTCTCT others(6): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 83 | 0.0120 | 13 | c.-14 others(24): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AGAGAGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 52 | 0.0192 | 13 | c.*25 others(24): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40753384 | G | GTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0039 | 1 | 77 | 0.0130 | 13 | c.-35 others(24): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2908 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68881955 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01071.hp1 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0197 others(29): Show |
32 | 134 | 0.2388 | 13 | c.195 others(30): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68968013 | G | GGAGAGAG others(6): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 282 | 0.0035 | 13 | c.105 others(32): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236721015 | G | GGTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01934.hp2 HG01943.hp2 others(20): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0043 a0001c0001t0001g0243 a0001c0001t0003g0165 others(20): Show |
23 | 154 | 0.1494 | 13 | c.448 others(28): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38659065 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 NA18990.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0043a0001c0002t0001 | a0001c0001t0018g0196 a0001c0001t0043g0077 a0001c0002t0001g0061 |
3 | 104 | 0.0288 | 13 | c.162 others(32): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38728448 | T | TCCTCCTC others(6): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18981.hp2 NA19090.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0209 a0001c0002t0001g0041 a0001c0002t0001g0049 others(1): Show |
4 | 301 | 0.0133 | 13 | c.241 others(30): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38736007 | C | CTCGGGGG others(6): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03453.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 |
3 | 311 | 0.0096 | 13 | c.*65 others(24): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4419 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736026 | G | GGCGGGGC others(6): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 a0001c0002t0001g0279 |
2 | 298 | 0.0067 | 13 | c.*65 others(24): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4438 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38736035 | G | GGCGGGGC others(6): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 HG03710.hp1 NA18939.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0005 | a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0005g0244 others(1): Show |
4 | 302 | 0.0132 | 13 | c.*66 others(24): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4447 | chr19 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102493001 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02055.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0235 a0001c0001t0004g0022 a0001c0001t0004g0053 others(4): Show |
8 | 13 | 0.6154 | 13 | c.49- others(28): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152806672 | A | AAGTCTAC others(6): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02615.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0296 others(9): Show |
13 | 308 | 0.0422 | 13 | c.336 others(30): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02976.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0168 a0001c0001t0003g0260 a0001c0001t0004g0171 |
3 | 20 | 0.1500 | 13 | c.337 others(30): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113895932 | C | CACTGCAT others(6): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 388 | 0.0026 | 13 | c.44+ others(28): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR5_chr20_38743460_38777520 | 38776911 | T | TTTGTGTG others(6): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03098.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0118 a0002c0003t0001g0119 |
2 | 296 | 0.0068 | 13 | c.*50 others(24): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 4392 | chr20 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157757029 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0009a0001c0004t0021 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | 172 | 0.0407 | 13 | c.126 others(32): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0144 | 1 | 59 | 0.0169 | 13 | c.-15 others(22): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54041054 | C | CTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 a0001c0002t0002g0062 |
2 | 270 | 0.0074 | 13 | c.63- others(28): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54115905 | G | GGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0163 a0001c0001t0011g0161 |
2 | 254 | 0.0079 | 13 | c.278 others(32): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54195794 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0050 | 1 | 91 | 0.0110 | 13 | c.404 others(32): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54202706 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0029 | 1 | 20 | 0.0500 | 13 | c.404 others(32): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAL_chr15_43325672_43359569 | 43357270 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01255.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0016 others(20): Show |
24 | 26 | 0.9231 | 13 | c.*53 others(24): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 2702 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58588633 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0311 | 1 | 24 | 0.0417 | 13 | c.*89 others(24): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 175 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58647248 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01243.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(6): Show | a0001c0001t0001g0064 a0001c0001t0001g0079 a0001c0001t0001g0340 others(12): Show |
15 | 22 | 0.6818 | 13 | c.586 others(30): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44778713 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG02056.hp1 others(7): Show |
a0001a0004 | a0001c0002a0001c0007a0004c0008 | a0001c0002t0003a0001c0002t0010a0001c0007t0029others(1): Show | a0001c0002t0003g0014 a0001c0002t0003g0161 a0001c0002t0003g0169 others(5): Show |
10 | 79 | 0.1266 | 13 | c.227 others(30): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 25/26 | chr17 | TogoVar |