regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGT_chr1_230697523_230719122 | 230701148 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00735.hp1 others(55): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0070others(24): Show | 58 | 456 | 0.1272 | -6 | c.*19 others(17): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1374 | chr1 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35011915 | TACACAC | T | intron_variant | MODIFIER | HG01175.hp2 HG01256.hp1 HG01433.hp2 others(54): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0023others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0165a0001c0001t0001g0171a0001c0001t0001g0367others(50): Show | 57 | 384 | 0.1484 | -6 | c.118 others(25): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 11/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35028558 | TGAGAGA | T | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01255.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(4): Show | a0001c0001t0001g0184a0001c0001t0001g0191a0001c0001t0001g0204others(11): Show | 14 | 384 | 0.0365 | -6 | c.770 others(23): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35045764 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(30): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0006a0007c0018others(2): Show | a0001c0001t0001a0001c0001t0003a0003c0006t0002others(4): Show | a0001c0001t0001g0152a0001c0001t0001g0155a0001c0001t0001g0157others(27): Show | 33 | 384 | 0.0859 | -6 | c.88+ others(21): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246838901 | CTACTGA | C | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02630.hp2 others(10): Show |
a0001 | a0001c0004a0001c0012a0001c0044 | a0001c0004t0002a0001c0004t0008a0001c0004t0020others(2): Show | a0001c0004t0002g0143a0001c0004t0002g0145a0001c0004t0002g0146others(10): Show | 13 | 376 | 0.0346 | -6 | c.*18 others(17): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 196 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246898621 | AACACAC | A | intron_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG01884.hp1 others(16): Show |
a0001a0003a0006others(1): Show | a0001c0004a0001c0037a0003c0003others(2): Show | a0001c0004t0002a0001c0037t0001a0003c0003t0001others(2): Show | a0001c0004t0002g0021a0001c0004t0002g0022a0001c0004t0002g0023others(16): Show | 19 | 376 | 0.0505 | -6 | c.149 others(23): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 11/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246931478 | CCCGCCG | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(191): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0007others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(31): Show | a0001c0001t0001g0172a0001c0001t0001g0173a0001c0001t0001g0175others(190): Show | 194 | 376 | 0.5160 | -6 | c.-8+ others(17): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 109994445 | TTTTTTG | T | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02965.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0183others(1): Show | 8 | 350 | 0.0229 | -6 | c.120 others(23): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129243564 | GTTTGTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(105): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0147others(105): Show | 108 | 292 | 0.3699 | -6 | c.363 others(25): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129398356 | TTTTTTA | T | intron_variant | MODIFIER | HG01123.hp2 HG02273.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0033a0001c0001t0011g0290a0001c0001t0011g0291 | 3 | 292 | 0.0103 | -6 | c.823 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHDC1_chr1_27529245_27609144 | 27597335 | TTGTGTG | T | intron_variant | MODIFIER | HG02897.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019 | 2 | 180 | 0.0111 | -6 | c.-62 others(25): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27599179 | ACAGGGC | A | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(9): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0020 | a0001c0001t0001a0001c0002t0001a0010c0020t0007 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0056others(7): Show | 12 | 180 | 0.0667 | -6 | c.-62 others(25): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27608986 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01069.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(14): Show | 19 | 180 | 0.1056 | -6 | c.-57 others(17): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4843 | chr1 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135324551 | CATATAT | C | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG01891.hp2 others(25): Show |
a0001a0006a0010 | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(7): Show | a0001c0001t0003g0033a0001c0001t0003g0034a0001c0001t0003g0035others(25): Show | 28 | 220 | 0.1273 | -6 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135340654 | CATACAT | C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01243.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0053a0001c0001t0001g0058a0001c0001t0001g0147others(18): Show | 21 | 220 | 0.0955 | -6 | c.316 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135361645 | TCACACA | T | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00639.hp1 others(33): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0018a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0076a0001c0001t0001g0121a0001c0001t0001g0122others(33): Show | 36 | 220 | 0.1636 | -6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135364909 | GAGAGGA | G | intron_variant | MODIFIER | HG01515.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0007 | a0001c0001t0001g0064a0001c0013t0007g0168 | 2 | 220 | 0.0091 | -6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135364921 | AAGAGGG | A | intron_variant | MODIFIER | HG00733.hp2 HG02145.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(1): Show | a0001c0001t0001g0067a0001c0001t0003g0182a0001c0001t0017g0036others(1): Show | 4 | 220 | 0.0182 | -6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135382924 | AAAATAT | A | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG01515.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0053a0001c0001t0001g0058a0001c0001t0001g0064others(14): Show | 17 | 220 | 0.0773 | -6 | c.310 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345182 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp1 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0017others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0018a0001c0001t0001g0161a0001c0001t0002g0039others(80): Show | 83 | 268 | 0.3097 | -6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 345312 | ATGTGTG | A | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0013a0001c0001t0046others(1): Show | a0001c0001t0001g0253a0001c0001t0001g0263a0001c0001t0013g0254others(2): Show | 5 | 268 | 0.0187 | -6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 345330 | GTGGGGA | G | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02145.hp2 others(10): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0007a0004c0003t0009a0004c0003t0022others(6): Show | a0004c0003t0007g0230a0004c0003t0007g0237a0004c0003t0007g0246others(10): Show | 13 | 268 | 0.0485 | -6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 421065 | AAAAGAT | A | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01074.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0049a0003c0004t0004a0003c0004t0054 | a0002c0002t0049g0160a0003c0004t0004g0164a0003c0004t0004g0169others(3): Show | 6 | 268 | 0.0224 | -6 | c.442 others(23): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHR_chr7_17293652_17351147 | 17294021 | TATATAC | T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02145.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0037 | a0002c0002t0007g0015a0002c0002t0007g0119a0002c0002t0007g0120others(2): Show | 7 | 370 | 0.0189 | -6 | c.-52 others(17): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4630 | chr7 | TogoVar | ||||||
AHSA1_chr14_77453093_77474472 | 77471853 | GAAAAGA | G | downstream_gene_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082a0001c0002t0001g0083a0001c0002t0001g0084others(2): Show | 5 | 308 | 0.0162 | -6 | c.*26 others(17): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 2382 | chr14 | TogoVar | ||||||
AHSP_chr16_31522900_31533803 | 31532696 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0002t0001g0001 | 7 | 388 | 0.0180 | -6 | c.*40 others(17): Show |
AHSP | ENSG00000169877.10 | transcript | ENST00000302312.9 | protein_coding | 3894 | chr16 | TogoVar | ||||||
AICDA_chr12_8597170_8617859 | 8610993 | TTGTGTG | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(169): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0034others(89): Show | 172 | 458 | 0.3756 | -6 | c.8+1 others(19): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222678200 | GGTGTGT | G | intron_variant | MODIFIER | HG01884.hp2 HG02015.hp2 HG02074.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0077a0001c0001t0001g0080a0001c0001t0003g0004others(18): Show | 29 | 368 | 0.0788 | -6 | c.461 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222689479 | GTGTATA | G | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG02148.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0032a0001c0001t0001g0207a0001c0001t0001g0247others(3): Show | 8 | 368 | 0.0217 | -6 | c.290 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131109561 | AAAAAAC | A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0169others(2): Show | 5 | 424 | 0.0118 | -6 | c.94- others(21): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AIF1L_chr9_131091531_131128144 | 131111861 | CCTGCGG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(282): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(226): Show | 285 | 424 | 0.6722 | -6 | c.160 others(21): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 3/5 | chr9 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131123942 | ATATATG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(149): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(123): Show | 152 | 424 | 0.3585 | -6 | c.*36 others(17): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 799 | chr9 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131123966 | ATATGTG | A | downstream_gene_variant | MODIFIER | NA18522.hp1 NA18961.hp1 NA18962.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0046others(2): Show | 6 | 424 | 0.0142 | -6 | c.*36 others(17): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 823 | chr9 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131123968 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02976.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0044a0001c0002t0008g0266 | 3 | 424 | 0.0071 | -6 | c.*36 others(17): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 825 | chr9 | TogoVar | ||||||
AIF1_chr6_31610234_31622015 | 31619368 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01361.hp1 HG02698.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0006a0004c0004t0001g0006 | 15 | 437 | 0.0343 | -6 | c.*24 others(17): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 2354 | chr6 | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130135396 | CTTTTAT | C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016a0001c0002t0001g0017 | 2 | 262 | 0.0076 | -6 | c.130 others(23): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 12/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130146451 | ATGTGTG | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01496.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0147a0001c0001t0001g0154a0001c0001t0001g0188others(16): Show | 20 | 262 | 0.0763 | -6 | c.606 others(21): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130153457 | GTTATAC | G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 262 | 0.0038 | -6 | c.249 others(23): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130169207 | CAAAAAA | C | upstream_gene_variant | MODIFIER | NA18982.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0143 | 2 | 262 | 0.0076 | -6 | c.-35 others(17): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 3367 | chrX | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70125437 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG02056.hp1 HG02523.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(9): Show | a0001c0001t0001g0297a0001c0001t0005g0018a0001c0001t0005g0056others(15): Show | 19 | 468 | 0.0406 | -6 | c.-13 others(23): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70132764 | GGCTCCC | G | 5_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02056.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0005a0001c0001t0035a0001c0002t0020others(9): Show | a0001c0001t0005g0018a0001c0001t0005g0020a0001c0001t0005g0056others(22): Show | 28 | 468 | 0.0598 | -6 | c.-50 others(13): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/9 | 8681 | chr10 | TogoVar | |||||
AIFM2_chr10_70107271_70137825 | 70133098 | AAGAGAG | A | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01928.hp2 HG03654.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0001a0001c0001t0021a0002c0004t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0255a0001c0001t0021g0261others(2): Show | 5 | 468 | 0.0107 | -6 | c.-38 others(15): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 274 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70136527 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG02572.hp1 HG03471.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0031a0001c0002t0007a0001c0006t0033 | a0001c0001t0031g0049a0001c0002t0007g0293a0001c0006t0033g0047 | 3 | 468 | 0.0064 | -6 | c.-38 others(17): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143060781 | GCCCCGC | G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02717.hp2 others(13): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0004a0001c0002t0001g0007a0001c0002t0001g0009others(13): Show | 16 | 204 | 0.0784 | -6 | c.-14 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 107 | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143196350 | AACACAC | A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0092a0001c0001t0001g0113a0001c0001t0002g0095others(28): Show | 31 | 204 | 0.1520 | -6 | c.399 others(25): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIM2_chr1_159057484_159081766 | 159075534 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp1 HG01934.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0115 | 6 | 394 | 0.0152 | -6 | c.-21 others(23): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106320156 | TATACTC | T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00738.hp2 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0008others(40): Show | 78 | 384 | 0.2031 | -6 | c.-26 others(23): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106332853 | ACCAAGG | A | intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023a0001c0001t0006g0177a0001c0001t0006g0178others(1): Show | 6 | 384 | 0.0156 | -6 | c.603 others(21): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106339794 | TTTATAA | T | intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023a0001c0001t0006g0177a0001c0001t0006g0178others(1): Show | 6 | 384 | 0.0156 | -6 | c.772 others(23): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106354214 | TACACAC | T | downstream_gene_variant | MODIFIER | HG03486.hp2 NA18978.hp1 NA19009.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0002 | a0001c0001t0006g0179a0002c0002t0002g0204a0002c0002t0002g0210 | 3 | 384 | 0.0078 | -6 | c.*65 others(17): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4759 | chr4 | TogoVar |