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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGO2_chr8_140515156_140640633 | 140551634 | A | AGATGGGT others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(206): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(104): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(204): Show |
209 | 245 | 0.8531 | 19 | c.127 others(36): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 10/18 | chr8 | TogoVar | |||||||
AGPAT2_chr9_136668143_136692457 | 136674659 | A | ACGATGAG others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 372 | 0.0027 | 19 | c.661 others(32): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161228661 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01175.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0101 a0001c0001t0002g0184 a0001c0001t0003g0039 others(9): Show |
12 | 144 | 0.0833 | 19 | c.178 others(36): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0125 | 1 | 251 | 0.0040 | 19 | c.*48 others(30): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834474 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG02451.hp2 HG02922.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0280 a0003c0003t0001g0282 a0003c0003t0001g0286 |
3 | 87 | 0.0345 | 19 | c.*63 others(30): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4623 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834949 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0269 | 1 | 86 | 0.0116 | 19 | c.*58 others(30): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4148 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0268 | 1 | 11 | 0.0909 | 19 | c.363 others(38): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27538400 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0001a0007a0009 | a0001c0001a0001c0007a0007c0016others(1): Show | a0001c0001t0001a0001c0007t0005a0001c0007t0008others(2): Show | a0001c0001t0001g0162 a0001c0007t0005g0099 a0001c0007t0008g0163 others(2): Show |
5 | 112 | 0.0446 | 19 | c.*44 others(36): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135383226 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0005 | a0005c0009 | a0005c0009t0008 | a0005c0009t0008g0005 | 1 | 62 | 0.0161 | 19 | c.310 others(40): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01928.hp1 HG02257.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0005a0005c0009t0008 | a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 others(3): Show |
6 | 46 | 0.1304 | 19 | c.135 others(36): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318164 | C | CCCCCTTC others(12): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 266 | 0.0038 | 19 | c.-36 others(30): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3549 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 397254 | A | ATCCACGT others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02145.hp1 others(31): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0009a0004c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(19): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 others(31): Show |
34 | 222 | 0.1532 | 19 | c.352 others(38): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 398140 | T | TTAGCCCC others(12): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01123.hp1 HG01255.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 a0001c0001t0005g0077 a0001c0001t0005g0078 others(3): Show |
6 | 262 | 0.0229 | 19 | c.352 others(38): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001 | a0001c0001t0009g0031 a0002c0002t0001g0048 |
2 | 14 | 0.1429 | 19 | c.*66 others(30): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AIF1L_chr9_131091531_131128144 | 131096385 | T | TGGCGGGA others(12): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 359 | 0.0028 | 19 | c.-24 others(28): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 145 | chr9 | TogoVar | |||||||
AIFM3_chr22_20962255_20986358 | 20978174 | G | GATCTATA others(12): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 454 | 0.0022 | 19 | c.147 others(36): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143526 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 169 | 0.0059 | 19 | c.297 others(36): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18985.hp1 NA19057.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0117 a0001c0002t0001g0033 a0001c0002t0001g0046 |
3 | 68 | 0.0441 | 19 | c.297 others(36): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18946.hp1 NA18988.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0144 a0001c0001t0001g0186 a0001c0002t0001g0041 |
3 | 68 | 0.0441 | 19 | c.297 others(36): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009972 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0351 | 1 | 351 | 0.0028 | 19 | c.135 others(34): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 47 | 0.0213 | 19 | c.135 others(34): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02040.hp1 HG02273.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0002t0001g0004 others(3): Show |
10 | 56 | 0.1786 | 19 | c.135 others(34): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02738.hp1 NA19085.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0198 a0001c0002t0001g0196 a0001c0002t0001g0197 |
3 | 49 | 0.0612 | 19 | c.135 others(34): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6023464 | G | GAGGGAAG others(12): Show |
frameshift_variant others(1): Show |
HIGH | HG01517.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0076 | 1 | 440 | 0.0023 | 19 | c.739 others(26): Show |
p.Ala others(5): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 4/4 | 850/1198 | 758/963 | 253/320 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AAAAGAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0166 | 1 | 271 | 0.0037 | 19 | c.*36 others(30): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44303441 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0067 | 1 | 292 | 0.0034 | 19 | c.*57 others(30): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4794 | chr21 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4663698 | G | GCTGGTGT others(12): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01168.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(22): Show | a0001c0001t0003g0001 a0001c0001t0008g0141 a0001c0001t0008g0143 others(31): Show |
35 | 125 | 0.2800 | 19 | c.29+ others(34): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4663698 | G | GCTGGTGT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(154): Show | a0001c0001t0001g0145 a0001c0001t0001g0285 a0001c0001t0002g0097 others(199): Show |
204 | 294 | 0.6939 | 19 | c.29+ others(34): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4663698 | G | GCTGGTGT others(12): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03098.hp1 HG03540.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0013a0001c0002t0012a0002c0003t0059 | a0001c0001t0013g0195 a0001c0002t0012g0194 a0002c0003t0059g0323 |
3 | 93 | 0.0323 | 19 | c.29+ others(34): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJM1_chr9_136837478_136853801 | 136849695 | G | GCGGGGGC others(12): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 362 | 0.0028 | 19 | c.*23 others(30): Show |
AJM1 | ENSG00000232434.3 | transcript | ENST00000436881.3 | protein_coding | 895 | chr9 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77376438 | A | AAAAAAAC others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0012 | a0001c0001t0001g0004 a0002c0002t0002g0002 a0002c0002t0012g0003 |
3 | 272 | 0.0110 | 19 | c.892 others(38): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96418322 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01070.hp1 HG02055.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0158 others(11): Show |
14 | 44 | 0.3182 | 19 | c.499 others(36): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109611954 | T | TGTGTTTT others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG03453.hp2 others(2): Show |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0083 a0005c0009t0001g0084 a0005c0009t0001g0085 others(2): Show |
5 | 376 | 0.0133 | 19 | c.169 others(34): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 16/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109636783 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18974.hp2 |
a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0339 a0003c0001t0002g0358 |
2 | 373 | 0.0054 | 19 | c.934 others(36): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 10/40 | chr6 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151304488 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0109 | 1 | 18 | 0.0556 | 19 | c.163 others(36): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151312793 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01175.hp1 HG03195.hp2 others(2): Show |
a0002a0004a0033others(1): Show | a0002c0001a0002c0005a0004c0006others(2): Show | a0002c0001t0002a0002c0005t0002a0004c0006t0001others(2): Show | a0002c0001t0002g0084 a0002c0005t0002g0243 a0004c0006t0001g0307 others(2): Show |
5 | 158 | 0.0316 | 19 | c.319 others(36): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85399502 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0211 | 1 | 182 | 0.0055 | 19 | c.-12 others(38): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85504503 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03688.hp1 NA18992.hp2 NA19057.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0002c0001t0002 | a0001c0002t0006g0283 a0002c0001t0002g0160 a0002c0001t0002g0182 others(1): Show |
4 | 14 | 0.2857 | 19 | c.34- others(36): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85613691 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG02897.hp1 NA19043.hp2 |
a0018 | a0018c0026 | a0018c0026t0026 | a0018c0026t0026g0109 a0018c0026t0026g0228 |
2 | 133 | 0.0150 | 19 | c.416 others(40): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85650755 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01515.hp1 HG02155.hp1 others(1): Show |
a0001a0005a0028 | a0001c0004a0001c0052a0005c0005others(1): Show | a0001c0004t0022a0001c0052t0001a0005c0005t0004others(1): Show | a0001c0004t0022g0297 a0001c0052t0001g0045 a0005c0005t0004g0287 others(1): Show |
4 | 26 | 0.1538 | 19 | c.437 others(38): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85682950 | A | AGCCACCG others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(293): Show |
a0001a0002a0003others(37): Show | a0001c0002a0001c0004a0001c0007others(62): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0009others(123): Show | a0001c0002t0001g0005 a0001c0002t0008g0033 a0001c0002t0008g0079 others(293): Show |
296 | 312 | 0.9487 | 19 | c.515 others(36): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 15/36 | chr15 | TogoVar | |||||||
AKAP14_chrX_119890893_119925716 | 119914940 | A | AGGTCATC others(12): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 302 | 0.0033 | 19 | c.441 others(32): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1588054 | C | CTCCCTTC others(12): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 74 | 0.0135 | 19 | c.-37 others(30): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3549 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1588054 | C | CTCCTTCC others(12): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 NA19074.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0005 a0002c0003t0002g0013 |
2 | 75 | 0.0267 | 19 | c.-37 others(30): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3549 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1588076 | C | CCCTTCCC others(12): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 147 | 0.0068 | 19 | c.-37 others(30): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3527 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1588278 | C | CCCTCCCC others(12): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0063 | 1 | 78 | 0.0128 | 19 | c.-35 others(30): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3325 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1588278 | C | CCCTCCCC others(12): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 78 | 0.0128 | 19 | c.-35 others(30): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3325 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1588278 | C | CCCTCCCT others(12): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0049 | 1 | 78 | 0.0128 | 19 | c.-35 others(30): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3325 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1588282 | C | CCCCTCCT others(12): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 |
2 | 149 | 0.0134 | 19 | c.-35 others(30): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3321 | chrX | TogoVar | |||||||
AKAP1_chr17_57080246_57126344 | 57119830 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01175.hp1 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0019others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0004others(12): Show | a0001c0001t0001g0108 a0001c0001t0001g0136 a0001c0001t0001g0209 others(28): Show |
34 | 158 | 0.2152 | 19 | c.263 others(36): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |