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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALMS1_chr2_73380836_73614916 | 73568995 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG02055.hp1 HG03139.hp2 others(3): Show |
a0002a0004a0038 | a0002c0011a0002c0020a0002c0040others(2): Show | a0002c0011t0001a0002c0020t0001a0002c0040t0001others(2): Show | a0002c0011t0001g0041 a0002c0020t0001g0207 a0002c0020t0001g0208 others(3): Show |
6 | 248 | 0.0242 | -8 | c.103 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8078115 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01168.hp1 others(21): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0214 others(11): Show |
24 | 462 | 0.0520 | -8 | c.107 others(25): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 8/14 | chr17 | TogoVar | |||||||
ALOX12B_chr17_8067636_8092716 | 8087229 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01070.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0222 a0001c0001t0002g0016 a0001c0001t0002g0126 others(5): Show |
11 | 462 | 0.0238 | -8 | c.147 others(21): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8040601 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02615.hp2 others(5): Show |
a0004a0008a0013others(1): Show | a0004c0006a0004c0007a0008c0013others(2): Show | a0004c0006t0003a0004c0006t0017a0004c0007t0003others(3): Show | a0004c0006t0003g0129 a0004c0006t0017g0073 a0004c0007t0003g0128 others(5): Show |
8 | 470 | 0.0170 | -8 | c.449 others(23): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8044105 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02965.hp2 HG03490.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0005a0002c0002a0004c0007others(1): Show | a0001c0005t0004a0002c0002t0002a0004c0007t0003others(1): Show | a0001c0005t0004g0091 a0002c0002t0002g0111 a0004c0007t0003g0225 others(1): Show |
4 | 470 | 0.0085 | -8 | c.677 others(23): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052705 | CAGATAGA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00621.hp1 others(26): Show |
a0001a0002a0007 | a0001c0005a0001c0010a0001c0046others(3): Show | a0001c0005t0004a0001c0005t0008a0001c0010t0001others(4): Show | a0001c0005t0004g0002 a0001c0005t0004g0007 a0001c0005t0004g0014 others(16): Show |
29 | 470 | 0.0617 | -8 | c.*41 others(19): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3572 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8052954 | AAGATAGA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02129.hp1 HG02145.hp1 others(36): Show |
a0003a0016a0020 | a0003c0004a0003c0028a0016c0050others(1): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0005others(3): Show | a0003c0004t0001g0061 a0003c0004t0001g0076 a0003c0004t0001g0150 others(34): Show |
39 | 470 | 0.0830 | -8 | c.*43 others(19): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3821 | chr17 | TogoVar | |||||||
ALOX5AP_chr13_30730543_30769426 | 30741103 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01978.hp1 HG02145.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0057 others(14): Show |
22 | 422 | 0.0521 | -8 | c.71- others(23): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45431548 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01928.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0192 a0001c0001t0001g0209 others(12): Show |
17 | 345 | 0.0493 | -8 | c.981 others(25): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8093870 | TAATAAAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00639.hp1 others(73): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0049 a0001c0001t0001g0117 a0001c0001t0001g0125 others(73): Show |
76 | 422 | 0.1801 | -8 | c.*27 others(19): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 2029 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107998 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01169.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0206 others(16): Show |
20 | 422 | 0.0474 | -8 | c.168 others(25): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58483529 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(43): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0016others(18): Show | a0001c0001t0003a0001c0001t0006a0001c0006t0003others(23): Show | a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0223 others(43): Show |
46 | 320 | 0.1438 | -8 | c.629 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58502134 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(29): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0002c0002others(17): Show | a0001c0001t0003a0001c0006t0003a0002c0002t0007others(24): Show | a0001c0001t0003g0191 a0001c0006t0003g0214 a0002c0002t0007g0061 others(29): Show |
32 | 320 | 0.1000 | -8 | c.624 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58557669 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01069.hp2 others(30): Show |
a0001a0002a0006others(10): Show | a0001c0001a0001c0006a0002c0002others(16): Show | a0001c0001t0001a0001c0006t0002a0001c0006t0003others(25): Show | a0001c0001t0001g0217 a0001c0006t0002g0044 a0001c0006t0002g0047 others(30): Show |
33 | 320 | 0.1031 | -8 | c.196 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58557682 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(93): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0016a0002c0002others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0122 a0001c0001t0001g0164 a0001c0001t0001g0173 others(93): Show |
96 | 320 | 0.3000 | -8 | c.196 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58565731 | GTTCCTTC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(77): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0006a0002c0002others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 others(77): Show |
80 | 320 | 0.2500 | -8 | c.196 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58565766 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(70): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0016a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0122 a0001c0001t0001g0164 a0001c0001t0001g0176 others(70): Show |
73 | 320 | 0.2281 | -8 | c.196 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84833957 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG06807.hp2 NA18522.hp1 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0005c0011t0010 | a0001c0001t0001g0022 a0005c0011t0010g0180 |
3 | 340 | 0.0088 | -8 | c.305 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84847208 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01081.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0024 | a0001c0001t0001a0001c0001t0034a0002c0003t0004others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0122 a0001c0001t0001g0137 others(7): Show |
15 | 340 | 0.0441 | -8 | c.165 others(27): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84877865 | TGATAGAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(86): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(33): Show | a0001c0001t0001g0017 a0001c0001t0001g0101 a0001c0001t0001g0102 others(80): Show |
89 | 340 | 0.2618 | -8 | c.*94 others(19): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4387 | chr15 | TogoVar | |||||||
ALPL_chr1_21504423_21583410 | 21504778 | CTATTTAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01106.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0003g0266 a0001c0001t0004g0004 a0001c0001t0004g0264 others(3): Show |
6 | 370 | 0.0162 | -8 | c.-48 others(19): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 4644 | chr1 | TogoVar | |||||||
ALPL_chr1_21504423_21583410 | 21554788 | CCTGTCTG others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01081.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0030 a0001c0001t0002g0055 others(31): Show |
35 | 370 | 0.0946 | -8 | c.61+ others(21): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21554815 | GTCTTTCT others(1): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02559.hp1 HG02738.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0109 a0001c0003t0005g0149 a0001c0003t0005g0150 others(2): Show |
5 | 370 | 0.0135 | -8 | c.61+ others(21): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21573459 | GAAAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(92): Show |
a0002a0008a0010 | a0002c0002a0002c0013a0002c0014others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 others(92): Show |
95 | 370 | 0.2568 | -8 | c.863 others(23): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201764634 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(88): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0017 others(80): Show |
91 | 354 | 0.2571 | -8 | c.175 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44293099 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0003 a0001c0001t0001g0227 a0001c0001t0001g0269 others(55): Show |
60 | 388 | 0.1546 | -8 | c.466 others(27): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44294828 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(61): Show | a0001c0001t0001g0003 a0001c0001t0001g0203 a0001c0001t0001g0227 others(173): Show |
180 | 388 | 0.4639 | -8 | c.466 others(27): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44309172 | CCGCAGCC others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01433.hp2 HG02257.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 others(13): Show |
16 | 388 | 0.0412 | -8 | c.466 others(23): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46419401 | TATCTCTA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01074.hp2 others(35): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0004c0006t0001 | a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 others(35): Show |
38 | 160 | 0.2375 | -8 | c.297 others(27): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46447708 | GTAGATAG others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG01192.hp2 others(44): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(44): Show |
47 | 160 | 0.2938 | -8 | c.252 others(27): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46459739 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02622.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0127 others(11): Show |
14 | 160 | 0.0875 | -8 | c.252 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46486908 | CATAAATA others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp2 HG02258.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0062 a0001c0001t0001g0080 others(23): Show |
26 | 160 | 0.1625 | -8 | c.252 others(27): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46581797 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0130 a0001c0001t0001g0131 others(4): Show |
7 | 160 | 0.0438 | -8 | c.-12 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95944327 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02293.hp1 HG02622.hp1 HG02886.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0240 others(2): Show |
6 | 404 | 0.0149 | -8 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2517713 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp1 HG03688.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0088 |
4 | 318 | 0.0126 | -8 | c.-27 others(19): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2520251 | GGGGCGGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG04115.hp1 NA19068.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show |
4 | 318 | 0.0126 | -8 | c.-20 others(17): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 119 | chr16 | TogoVar | |||||||
AMER1_chrX_64180117_64210708 | 64189512 | GTGTATAT others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0091 | 1 | 243 | 0.0041 | -8 | c.*35 others(17): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 359 | chrX | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189514 | GTATATAT others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02056.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0039 a0001c0001t0028g0113 |
2 | 243 | 0.0082 | -8 | c.*35 others(17): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 357 | chrX | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174825 | CCTTTCTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02074.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(3): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0024g0000 others(3): Show |
6 | 416 | 0.0144 | -8 | c.-32 others(19): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56384703 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02622.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0030 | a0001c0001t0004g0149 a0001c0001t0011g0005 a0001c0001t0030g0003 |
3 | 356 | 0.0084 | -8 | c.138 others(27): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109503476 | TTATATAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0004g0004 a0001c0001t0008g0009 a0001c0001t0009g0010 others(5): Show |
54 | 400 | 0.1350 | -8 | c.*39 others(19): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109510370 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0028 others(9): Show |
79 | 400 | 0.1975 | -8 | c.-10 others(19): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 644 | chr1 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109511255 | AAAAGAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(52): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 others(5): Show |
55 | 400 | 0.1375 | -8 | c.-19 others(19): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1529 | chr1 | TogoVar | |||||||
AMMECR1_chrX_110189186_110323085 | 110232889 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp1 NA19006.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0112 a0001c0001t0001g0113 |
3 | 155 | 0.0194 | -8 | c.585 others(27): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31710551 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02129.hp1 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0322 |
3 | 432 | 0.0069 | -8 | c.39- others(23): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31722130 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(69): Show |
89 | 432 | 0.2060 | -8 | c.38+ others(23): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
AMN_chr14_102917663_102935842 | 102919147 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01071.hp1 HG01496.hp1 HG01928.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0002g0011 others(10): Show |
18 | 452 | 0.0398 | -8 | c.-35 others(19): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 3515 | chr14 | TogoVar | |||||||
AMOTL1_chr11_94763356_94881748 | 94810831 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG02258.hp1 HG02735.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0001c0001t0007a0001c0001t0015others(1): Show | a0001c0001t0003g0022 a0001c0001t0007g0227 a0001c0001t0007g0228 others(3): Show |
6 | 246 | 0.0244 | -8 | c.112 others(29): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94873776 | TACACACA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02055.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0017a0001c0001t0019others(3): Show | a0001c0001t0013g0018 a0001c0001t0013g0119 a0001c0001t0013g0206 others(9): Show |
12 | 246 | 0.0488 | -8 | c.*30 others(19): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 3011 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOT_chrX_112769877_112845831 | 112805370 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01891.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0098 a0001c0001t0004g0141 a0001c0001t0004g0143 others(25): Show |
28 | 270 | 0.1037 | -8 | c.163 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 7/13 | chrX | TogoVar |