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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL2_chr9_133529704_133580519 | 133562612 | GGGCACCC others(37): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0035 a0001c0001t0007g0112 |
2 | 150 | 0.0133 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133562731 | CGTGGGCG others(37): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0018 | a0002c0018t0003 | a0002c0018t0003g0110 | 1 | 149 | 0.0067 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133562875 | TGGTGGGC others(37): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0108 | 1 | 148 | 0.0068 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133562884 | CCCGGCTT others(37): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02280.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0019a0001c0031others(1): Show | a0001c0001t0001a0001c0019t0006a0001c0031t0011others(1): Show | a0001c0001t0001g0132 a0001c0019t0006g0117 a0001c0031t0011g0004 others(1): Show |
4 | 150 | 0.0267 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133562946 | GCACCGCT others(37): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 150 | 0.0067 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83714864 | CCCTCCCT others(37): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG01884.hp2 others(13): Show |
a0002a0005a0041 | a0002c0002a0002c0016a0002c0020others(3): Show | a0002c0002t0001a0002c0016t0001a0002c0020t0001others(3): Show | a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 others(13): Show |
16 | 110 | 0.1455 | -44 | c.189 others(63): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 906711 | GGACATCG others(37): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 12 | 0.0833 | -44 | c.389 others(61): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45073979 | GGGTGGCT others(37): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01943.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0036a0001c0001t0102others(12): Show | a0001c0001t0019g0146 a0001c0001t0019g0150 a0001c0001t0019g0171 others(27): Show |
30 | 332 | 0.0904 | -44 | c.-10 others(54): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 600 | chr21 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45073982 | TGGCTCGG others(37): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0248 others(29): Show |
33 | 110 | 0.3000 | -44 | c.-10 others(54): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 597 | chr21 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1540737 | CGTAGTTC others(37): Show |
C | intron_variant | MODIFIER | HG02055.hp1 NA18982.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0098 a0002c0002t0002g0043 |
2 | 104 | 0.0192 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1541351 | GGACCCTG others(37): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0040 | 1 | 61 | 0.0164 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1541776 | GGACCCTG others(37): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02080.hp1 HG02083.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0006a0002c0002t0008others(1): Show | a0001c0001t0011g0017 a0002c0002t0006g0019 a0002c0002t0008g0058 others(1): Show |
4 | 59 | 0.0678 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1542186 | CCCAGACC others(37): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(24): Show | a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 others(32): Show |
35 | 103 | 0.3398 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1542274 | CCCAGACC others(37): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 100 | 0.0100 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1542714 | TCCAGACC others(37): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03540.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0001t0049a0001c0003t0009 | a0001c0001t0012g0009 a0001c0001t0049g0040 a0001c0003t0009g0046 |
3 | 104 | 0.0288 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1542745 | CGGATCAC others(37): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG01934.hp1 others(15): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0010a0001c0001t0025a0001c0001t0036others(14): Show | a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0025g0036 others(15): Show |
18 | 50 | 0.3600 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1542821 | CAGTTCAG others(37): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0029 | 1 | 103 | 0.0097 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1664203 | TCCGTGTT others(37): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0071 | 1 | 106 | 0.0094 | -44 | c.100 others(63): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1680175 | ATATTCTT others(37): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02622.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0003g0094 others(13): Show |
16 | 106 | 0.1509 | -44 | c.100 others(63): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130893798 | GTGTGTGC others(37): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0008a0001c0014a0001c0017 | a0001c0008t0002a0001c0014t0002a0001c0017t0002 | a0001c0008t0002g0174 a0001c0008t0002g0214 a0001c0008t0002g0215 others(2): Show |
5 | 244 | 0.0205 | -44 | c.191 others(63): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 131019799 | CTCTCTCT others(37): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0004 | 1 | 244 | 0.0041 | -44 | c.960 others(63): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | |||||||
ADGRA3_chr4_22382376_22521066 | 22390359 | TAATACGT others(37): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(207): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0011others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(35): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0034 others(207): Show |
210 | 271 | 0.7749 | -44 | c.262 others(63): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | |||||||
ADGRD1_chr12_130948907_131146469 | 131127842 | TCTGAGCT others(37): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00741.hp1 others(36): Show |
a0001a0011 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(10): Show | a0001c0001t0002g0008 a0001c0001t0002g0107 a0001c0001t0002g0130 others(36): Show |
39 | 240 | 0.1625 | -44 | c.217 others(63): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRG1_chr16_57623630_57670567 | 57628889 | TGTGAGTG others(37): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0390 a0001c0001t0003g0391 others(2): Show |
5 | 446 | 0.0112 | -44 | c.-36 others(58): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ADGRG1_chr16_57623630_57670567 | 57628951 | TGAGAGTG others(37): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01123.hp1 others(55): Show |
a0001a0011 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0369 a0001c0001t0002g0381 a0001c0001t0003g0005 others(49): Show |
58 | 444 | 0.1306 | -44 | c.-36 others(59): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90986075 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 156 | 0.0064 | -44 | c.181 others(63): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADIG_chr20_38576197_38593463 | 38588573 | GTTCAATG others(37): Show |
G | downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | -44 | c.*48 others(53): Show |
ADIG | ENSG00000182035.13 | transcript | ENST00000537425.3 | protein_coding | 111 | chr20 | TogoVar | |||||||
ADRA1D_chr20_4215630_4254287 | 4227660 | TTCCCTCC others(37): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0001 | a0001c0001t0015g0156 a0001c0003t0001g0062 |
2 | 450 | 0.0044 | -44 | c.111 others(63): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
AFF1_chr4_86930011_87146039 | 87022560 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02970.hp2 |
a0001 | a0001c0003 | a0001c0003t0027a0001c0003t0066 | a0001c0003t0027g0186 a0001c0003t0027g0187 a0001c0003t0066g0188 |
3 | 275 | 0.0109 | -44 | c.39- others(61): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFM_chr4_73476745_73509001 | 73504053 | GATTCATT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 366 | 0.0027 | -44 | c.*21 others(53): Show |
AFM | ENSG00000079557.5 | transcript | ENST00000226355.5 | protein_coding | 53 | chr4 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 48980718 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0002c0003t0001 | a0001c0001t0011g0096 a0002c0003t0001g0059 |
2 | 14 | 0.1429 | -44 | c.594 others(63): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 5/13 | chr1 | TogoVar | |||||||
AGL_chr1_99845361_99929020 | 99856306 | TCCTCCCT others(37): Show |
T | intron_variant | MODIFIER | HG00741.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0267 | 1 | 228 | 0.0044 | -44 | c.83- others(59): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15322549 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0012 | a0006c0012t0003 | a0006c0012t0003g0223 | 1 | 234 | 0.0043 | -44 | c.126 others(65): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15531338 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 234 | 0.0043 | -44 | c.409 others(63): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15547131 | TAGAATGT others(37): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp1 HG02300.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0078 a0001c0001t0001g0196 a0001c0001t0002g0197 others(1): Show |
4 | 234 | 0.0171 | -44 | c.258 others(61): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
AGO1_chr1_35878209_35935532 | 35888992 | GGGACAGA others(37): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0026others(26): Show | a0001c0001t0001g0140 a0001c0001t0018g0137 a0001c0001t0018g0145 others(81): Show |
109 | 276 | 0.3949 | -44 | c.209 others(59): Show |
AGO1 | ENSG00000092847.14 | transcript | ENST00000373204.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16874909 | GAGTTCAA others(37): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 456 | 0.0022 | -44 | c.110 others(61): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85541894 | CTAAATAA others(37): Show |
C | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 300 | 0.0033 | -44 | c.*51 others(55): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 4644 | chr9 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246899826 | TAAGTCAT others(37): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03209.hp1 |
a0001a0003 | a0001c0019a0003c0020 | a0001c0019t0001a0003c0020t0022 | a0001c0019t0001g0171 a0003c0020t0022g0373 |
2 | 374 | 0.0053 | -44 | c.143 others(61): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 10/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246899863 | ATATCTCC others(37): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03098.hp1 |
a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0274 a0011c0016t0001g0275 |
2 | 374 | 0.0053 | -44 | c.143 others(61): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 10/35 | chr1 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 345082 | GTGTGTGT others(37): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 266 | 0.0038 | -44 | c.62+ others(59): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106321967 | TGTGCTGT others(37): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 2 | 382 | 0.0052 | -44 | c.-25 others(61): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77475392 | ATATATAA others(37): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02451.hp1 HG02922.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0003t0004a0001c0009t0004others(3): Show | a0001c0001t0001g0049 a0001c0003t0004g0236 a0001c0009t0004g0091 others(5): Show |
8 | 282 | 0.0284 | -44 | c.106 others(63): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | chr1 | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1587645 | CCCCTCCC others(37): Show |
C | upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0020 | 1 | 148 | 0.0068 | -44 | c.-41 others(55): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3958 | chrX | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113404313 | CTGCAGTA others(37): Show |
C | upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 444 | 0.0023 | -44 | c.-32 others(55): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 3030 | chr9 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400239 | ATATACGT others(37): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(24): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0241 others(24): Show |
27 | 385 | 0.0701 | -44 | c.168 others(61): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400296 | CGTATATA others(37): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02155.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0006 | a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0186 others(3): Show |
6 | 378 | 0.0159 | -44 | c.168 others(61): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63422364 | TAAATATA others(37): Show |
T | intron_variant | MODIFIER | NA18990.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 a0001c0001t0003g0214 |
2 | 386 | 0.0052 | -44 | c.105 others(63): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63422388 | TATAAATA others(37): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0228 a0001c0001t0008g0229 a0001c0001t0008g0230 others(1): Show |
4 | 386 | 0.0104 | -44 | c.105 others(63): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7004277 | AATTAATT others(37): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(300): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0007others(15): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(165): Show |
303 | 402 | 0.7537 | -44 | c.116 others(61): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |