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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGMO_chr7_15195317_15567015 | 15531589 | ATATATTC others(17): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03579.hp1 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0004a0003c0009t0007 | a0001c0001t0004g0031 a0003c0009t0007g0005 |
2 | 234 | 0.0085 | -24 | c.409 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140607458 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0029a0001c0003t0013a0001c0003t0062others(5): Show | a0001c0001t0029g0183 a0001c0003t0013g0016 a0001c0003t0062g0209 others(5): Show |
8 | 203 | 0.0394 | -24 | c.23- others(41): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140607493 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0205 | 1 | 336 | 0.0030 | -24 | c.23- others(41): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGPAT3_chr21_43860223_43992592 | 43905155 | ATATTTAT others(17): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 72 | 0.0139 | -24 | c.-49 others(41): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43990939 | GTATGTAT others(17): Show |
G | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 330 | 0.0030 | -24 | c.*85 others(35): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3348 | chr21 | TogoVar | |||||||
AGPAT3_chr21_43860223_43992592 | 43990943 | GTATGTAT others(17): Show |
G | downstream_gene_variant | MODIFIER | HG04115.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 a0001c0001t0003g0319 |
2 | 307 | 0.0065 | -24 | c.*85 others(35): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3352 | chr21 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6707320 | AATATATA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01496.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0099 a0001c0001t0003g0003 a0001c0001t0011g0052 others(5): Show |
8 | 47 | 0.1702 | -24 | c.-13 others(35): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 1321 | chr8 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16880086 | CCCTTCCT others(17): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 317 | 0.0032 | -24 | c.-27 others(41): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
AGT_chr1_230697523_230719122 | 230711253 | CACACAGA others(17): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 454 | 0.0022 | -24 | c.-30 others(39): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35028558 | TGAGAGAG others(17): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01109.hp1 others(28): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0003a0003c0012others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0230 a0001c0001t0001g0360 a0001c0001t0003g0011 others(22): Show |
31 | 50 | 0.6200 | -24 | c.770 others(41): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246864846 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093 | 1 | 286 | 0.0035 | -24 | c.334 others(41): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 26/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246898621 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0198 a0003c0003t0010g0199 |
2 | 81 | 0.0247 | -24 | c.149 others(41): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 11/35 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129236684 | TACATATC others(17): Show |
T | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0208 | 1 | 290 | 0.0034 | -24 | c.363 others(43): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | GTTTTTTT others(17): Show |
G | intron_variant | MODIFIER | HG01891.hp1 NA18969.hp2 NA19002.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0018a0001c0002t0003 | a0001c0001t0003g0182 a0001c0001t0018g0283 a0001c0001t0018g0284 others(1): Show |
4 | 14 | 0.2857 | -24 | c.363 others(43): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135340654 | CATACATA others(17): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112 | 1 | 107 | 0.0093 | -24 | c.316 others(45): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135361645 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | NA18960.hp2 NA19007.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0149 a0001c0006t0002g0150 |
2 | 28 | 0.0714 | -24 | c.311 others(43): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382912 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0046 | 1 | 218 | 0.0046 | -24 | c.310 others(45): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 443229 | GGGCGGCG others(17): Show |
G | downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 47 | 0.0213 | -24 | c.*83 others(35): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4945 | chr5 | TogoVar | |||||||
AIF1L_chr9_131091531_131128144 | 131106762 | GTCGGCCG others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(117): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(79): Show |
120 | 422 | 0.2844 | -24 | c.94- others(39): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70133098 | AAGAGAGA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01257.hp2 HG01496.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0021others(2): Show | a0001c0001t0001a0001c0002t0025a0001c0021t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0001g0108 others(4): Show |
10 | 64 | 0.1563 | -24 | c.-40 others(33): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 274 | chr10 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6013887 | GCTGCAGT others(17): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 440 | 0.0023 | -24 | c.136 others(41): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6421832 | TAGAAAAG others(17): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01192.hp1 HG01891.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0010a0001c0001t0044a0001c0002t0003others(7): Show | a0001c0001t0010g0259 a0001c0001t0044g0268 a0001c0002t0003g0001 others(10): Show |
14 | 444 | 0.0315 | -24 | c.*36 others(35): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1905 | chr17 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65152316 | ATCTCTCT others(17): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0172 | 1 | 235 | 0.0043 | -24 | c.145 others(41): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77470826 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0125 | 1 | 137 | 0.0073 | -24 | c.106 others(45): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132821805 | GTGTATGT others(17): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0054 others(18): Show |
21 | 222 | 0.0946 | -24 | c.889 others(41): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132821865 | GTGTATGT others(17): Show |
G | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 249 | 0.0040 | -24 | c.889 others(41): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
AKAIN1_chr18_5137911_5202257 | 5192385 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 NA18940.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0316 a0001c0001t0002g0311 a0001c0001t0003g0030 others(5): Show |
9 | 109 | 0.0826 | -24 | c.16+ others(39): Show |
AKAIN1 | ENSG00000231824.4 | transcript | ENST00000434239.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19946213 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA18983.hp2 NA19077.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 a0002c0002t0001g0157 |
2 | 276 | 0.0072 | -24 | c.976 others(41): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | |||||||
AKAP11_chr13_42267152_42328261 | 42319906 | GGTGTGTG others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02976.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0040 a0001c0001t0036g0129 |
2 | 28 | 0.0714 | -24 | c.*69 others(33): Show |
AKAP11 | ENSG00000023516.9 | transcript | ENST00000025301.4 | protein_coding | 13/13 | 699 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85631502 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03130.hp2 |
a0013 | a0013c0025 | a0013c0025t0005 | a0013c0025t0005g0089 a0013c0025t0005g0212 |
2 | 36 | 0.0556 | -24 | c.416 others(43): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85641445 | CAAATAAA others(17): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02717.hp1 others(5): Show |
a0008 | a0008c0010 | a0008c0010t0001a0008c0010t0056a0008c0010t0066 | a0008c0010t0001g0078 a0008c0010t0001g0091 a0008c0010t0001g0092 others(5): Show |
8 | 13 | 0.6154 | -24 | c.423 others(43): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85720260 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
a0001a0007a0018others(1): Show | a0001c0002a0007c0009a0018c0026others(1): Show | a0001c0002t0009a0007c0009t0009a0018c0026t0026others(1): Show | a0001c0002t0009g0157 a0007c0009t0009g0026 a0007c0009t0009g0059 others(9): Show |
12 | 21 | 0.5714 | -24 | c.625 others(41): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP14_chrX_119890893_119925716 | 119916433 | AATCTATC others(17): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 165 | 0.0061 | -24 | c.441 others(41): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32352079 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0008 | a0008c0055 | a0008c0055t0005 | a0008c0055t0005g0106 | 1 | 152 | 0.0066 | -24 | c.-35 others(43): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32800153 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03225.hp1 HG03486.hp2 |
a0004 | a0004c0018a0004c0021a0004c0027 | a0004c0018t0004a0004c0021t0004a0004c0027t0004 | a0004c0018t0004g0041 a0004c0021t0004g0131 a0004c0027t0004g0107 |
3 | 148 | 0.0203 | -24 | c.358 others(45): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32828519 | TCTCTCTC others(17): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0004 | a0004c0024 | a0004c0024t0031 | a0004c0024t0031g0113 | 1 | 150 | 0.0067 | -24 | c.*43 others(41): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131242982 | ATTTAGAG others(17): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 302 | 0.0033 | -24 | c.850 others(43): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131247269 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0159 | 1 | 37 | 0.0270 | -24 | c.850 others(43): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 38987489 | CTTATTTA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 others(20): Show |
30 | 111 | 0.2703 | -24 | c.-38 others(35): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 3786 | chr1 | TogoVar | |||||||
AKR1B15_chr7_134544110_134584869 | 134562832 | CTCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG01106.hp1 NA18522.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0171 a0001c0001t0001g0216 a0001c0001t0003g0089 others(1): Show |
4 | 69 | 0.0580 | -24 | c.-22 others(41): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1B15_chr7_134544110_134584869 | 134562867 | TTTCTTTC others(17): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 402 | 0.0025 | -24 | c.-22 others(41): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1C1_chr10_4958415_4988283 | 4961722 | GTTGTTGT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02622.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0136a0001c0001t0137a0001c0001t0138others(1): Show | a0001c0001t0136g0031 a0001c0001t0137g0068 a0001c0001t0138g0031 others(1): Show |
4 | 424 | 0.0094 | -24 | c.-17 others(35): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 1692 | chr10 | TogoVar | |||||||
AKR1C3_chr10_5089414_5112686 | 5105281 | ATGACCCT others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(365): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0014a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0002others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(106): Show |
368 | 435 | 0.8460 | -24 | c.847 others(39): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138101149 | TTCCCTCC others(17): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00642.hp2 others(47): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0002g0023 a0001c0001t0003g0010 a0001c0001t0003g0021 others(41): Show |
50 | 385 | 0.1299 | -24 | c.456 others(41): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138101175 | CCCTCCCT others(17): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031a0001c0001t0036others(2): Show | a0001c0001t0001g0290 a0001c0001t0031g0118 a0001c0001t0036g0109 others(2): Show |
5 | 214 | 0.0234 | -24 | c.456 others(41): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR7A3_chr1_19277573_19293770 | 19288746 | CGCGCGCA others(17): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0038 | 1 | 430 | 0.0023 | -24 | c.-61 others(31): Show |
AKR7A3 | ENSG00000162482.5 | transcript | ENST00000361640.5 | protein_coding | 1/7 | 38 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527870 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 227 | 0.0044 | -24 | c.125 others(45): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527916 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0026 | 1 | 300 | 0.0033 | -24 | c.125 others(45): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243693242 | TGATATAT others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0246 |
2 | 108 | 0.0185 | -24 | c.172 others(41): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243803645 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | NA19068.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 a0001c0001t0001g0142 |
2 | 20 | 0.1000 | -24 | c.46+ others(41): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar |