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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LURAP1_chr1_46198334_46226256 | 46198533 | C | CGGCGGCG others(14): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0116 | 1 | 356 | 0.0028 | 21 | c.-48 others(32): Show |
LURAP1 | ENSG00000171357.6 | transcript | ENST00000371980.4 | protein_coding | 4800 | chr1 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24531039 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02896.hp1 HG03041.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0007a0005c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(3): Show | a0001c0001t0002g0048a0001c0001t0003g0084a0001c0001t0013g0086others(3): Show | 6 | 116 | 0.0517 | 21 | c.62+ others(38): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24531054 | A | ATTATTAT others(14): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0050 | 1 | 116 | 0.0086 | 21 | c.62+ others(38): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24826190 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 1 | 116 | 0.0086 | 21 | c.396 others(40): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24826190 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19043.hp2 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0028 | a0002c0002t0001g0045a0002c0007t0028g0068 | 2 | 116 | 0.0172 | 21 | c.396 others(40): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 25030893 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00621.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0030a0001c0001t0031a0002c0002t0001others(6): Show | a0001c0001t0030g0108a0001c0001t0031g0109a0002c0002t0001g0008others(21): Show | 24 | 116 | 0.2069 | 21 | c.766 others(40): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP4_chrX_115284715_115312563 | 115306686 | T | TCACTCAG others(14): Show |
conservative_inframe_insertion | MODERATE | HG01071.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0064 | 1 | 280 | 0.0036 | 21 | c.829 others(28): Show |
p.Gln others(13): Show |
LUZP4 | ENSG00000102021.11 | transcript | ENST00000371920.4 | protein_coding | 4/4 | 895/1746 | 850/942 | 284/313 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
LY6E_chr8_143013529_143027409 | 143014526 | T | TCTGGTGT others(14): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 377 | 0.0027 | 21 | c.-41 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 4002 | chr8 | TogoVar | ||||||
LY6E_chr8_143013529_143027409 | 143014535 | G | GGAGGAGG others(14): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 377 | 0.0027 | 21 | c.-41 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3993 | chr8 | TogoVar | ||||||
LY6E_chr8_143013529_143027409 | 143014597 | T | TGTGTGAG others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(11): Show | 68 | 377 | 0.1804 | 21 | c.-40 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3931 | chr8 | TogoVar | ||||||
LY6E_chr8_143013529_143027409 | 143014684 | T | TGTGTGAG others(14): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 377 | 0.0027 | 21 | c.-39 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3844 | chr8 | TogoVar | ||||||
LY6E_chr8_143013529_143027409 | 143014963 | T | TGTGTGAG others(14): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 377 | 0.0053 | 21 | c.-36 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3565 | chr8 | TogoVar | ||||||
LY6E_chr8_143013529_143027409 | 143015380 | A | AGGAGGGA others(14): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 377 | 0.0027 | 21 | c.-32 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3148 | chr8 | TogoVar | ||||||
LY6E_chr8_143013529_143027409 | 143026384 | G | GGAGGAGG others(14): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 NA19068.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0004a0002c0006t0001g0009 | 2 | 377 | 0.0053 | 21 | c.*45 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3976 | chr8 | TogoVar | ||||||
LY6E_chr8_143013529_143027409 | 143026424 | A | AGAGAGGA others(14): Show |
downstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 377 | 0.0027 | 21 | c.*46 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 4016 | chr8 | TogoVar | ||||||
LY6K_chr8_142695111_142710127 | 142707795 | A | AATTAGAA others(14): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | 21 | c.*44 others(32): Show |
LY6K | ENSG00000160886.13 | transcript | ENST00000292430.10 | protein_coding | 2669 | chr8 | TogoVar | ||||||
LY75_chr2_159798355_159909756 | 159850799 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0141 | 1 | 330 | 0.0030 | 21 | c.288 others(38): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 21/34 | chr2 | TogoVar | ||||||
LY75_chr2_159798355_159909756 | 159874238 | T | TATATATT others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(87): Show |
a0002a0004a0007others(8): Show | a0002c0002a0002c0011a0004c0010others(12): Show | a0002c0002t0002a0002c0002t0009a0002c0002t0013others(17): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0047others(84): Show | 90 | 330 | 0.2727 | 21 | c.197 others(40): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | ||||||
LYPD4_chr19_41832074_41849683 | 41839680 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG02015.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0185a0001c0002t0002g0012a0001c0002t0002g0013others(11): Show | 24 | 428 | 0.0561 | 21 | c.-12 others(38): Show |
LYPD4 | ENSG00000273111.6 | transcript | ENST00000609812.6 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
LYPD6B_chr2_149033699_149220262 | 149212380 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 264 | 0.0038 | 21 | c.329 others(36): Show |
LYPD6B | ENSG00000150556.17 | transcript | ENST00000409642.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LYPLA1_chr8_54041367_54106947 | 54082388 | G | GCGATCAA others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 306 | 0.0033 | 21 | c.102 others(40): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
LYRM4_chr6_5103419_5265950 | 5118094 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0161 | 2 | 286 | 0.0070 | 21 | c.208 others(38): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | ||||||
LYRM4_chr6_5103419_5265950 | 5118094 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01258.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0125a0001c0001t0001g0153 | 3 | 286 | 0.0105 | 21 | c.208 others(38): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | ||||||
LYRM7_chr5_131165944_131210428 | 131181300 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0020 | a0001c0001t0013g0171a0001c0001t0020g0170 | 2 | 300 | 0.0067 | 21 | c.92- others(34): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
LYRM7_chr5_131165944_131210428 | 131181302 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0114 | 1 | 300 | 0.0033 | 21 | c.92- others(34): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LYRM7_chr5_131165944_131210428 | 131181302 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02148.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0118a0001c0001t0004g0119a0001c0001t0019g0120 | 3 | 300 | 0.0100 | 21 | c.92- others(34): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LYRM7_chr5_131165944_131210428 | 131181302 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02738.hp2 NA18962.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0135a0001c0001t0001g0185a0001c0001t0002g0232others(2): Show | 5 | 300 | 0.0167 | 21 | c.92- others(34): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LYRM7_chr5_131165944_131210428 | 131181302 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03654.hp1 HG04199.hp2 NA19007.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(1): Show | a0001c0001t0001g0155a0001c0001t0001g0158a0001c0001t0001g0192others(4): Show | 7 | 300 | 0.0233 | 21 | c.92- others(34): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
LYSMD1_chr1_151154748_151170902 | 151160238 | C | CAAAAAAA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 NA18968.hp2 NA18990.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0022a0001c0001t0021g0106 | 5 | 344 | 0.0145 | 21 | c.*64 others(30): Show |
LYSMD1 | ENSG00000163155.12 | transcript | ENST00000368908.10 | protein_coding | 3/3 | 643 | chr1 | TogoVar | |||||
LYZL1_chr10_29284070_29316232 | 29306549 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0175 | 1 | 442 | 0.0023 | 21 | c.299 others(38): Show |
LYZL1 | ENSG00000120563.10 | transcript | ENST00000649382.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LYZL2_chr10_30606779_30634753 | 30610190 | A | ATTTAAAG others(14): Show |
downstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0371 | 1 | 456 | 0.0022 | 21 | c.*17 others(32): Show |
LYZL2 | ENSG00000151033.10 | transcript | ENST00000647634.2 | protein_coding | 1588 | chr10 | TogoVar | ||||||
LYZL2_chr10_30606779_30634753 | 30617678 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02055.hp1 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0112a0001c0001t0001g0166others(4): Show | 7 | 456 | 0.0154 | 21 | c.299 others(38): Show |
LYZL2 | ENSG00000151033.10 | transcript | ENST00000647634.2 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
LYZL2_chr10_30606779_30634753 | 30617679 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 456 | 0.0022 | 21 | c.299 others(38): Show |
LYZL2 | ENSG00000151033.10 | transcript | ENST00000647634.2 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
MAB21L1_chr13_35468789_35481689 | 35476296 | C | CCTGCTGC others(14): Show |
5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0000 | 3 | 466 | 0.0064 | 21 | c.-17 others(30): Show |
MAB21L1 | ENSG00000180660.9 | transcript | ENST00000379919.6 | protein_coding | 1/1 | 159 | chr13 | TogoVar | |||||
MAB21L4_chr2_240881048_240901156 | 240883699 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 HG04228.hp1 HG04228.hp2 others(7): Show |
a0001a0017 | a0001c0005a0017c0023 | a0001c0005t0003a0001c0005t0011a0017c0023t0003 | a0001c0005t0003g0005a0001c0005t0011g0076a0017c0023t0003g0082 | 10 | 446 | 0.0224 | 21 | c.*33 others(32): Show |
MAB21L4 | ENSG00000172478.18 | transcript | ENST00000388934.5 | protein_coding | 2348 | chr2 | TogoVar | ||||||
MAB21L4_chr2_240881048_240901156 | 240893740 | A | ACTCTGGG others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0006others(1): Show | a0001c0002t0002a0002c0003t0004a0003c0006t0002others(1): Show | a0001c0002t0002g0002a0001c0002t0002g0018a0001c0002t0002g0026others(20): Show | 102 | 446 | 0.2287 | 21 | c.514 others(38): Show |
MAB21L4 | ENSG00000172478.18 | transcript | ENST00000388934.5 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39307901 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0011 | 1 | 246 | 0.0041 | 21 | c.279 others(40): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 23/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39406756 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03516.hp2 NA20300.hp2 |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0238a0006c0005t0001g0240 | 2 | 246 | 0.0081 | 21 | c.158 others(44): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 58/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39477073 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG00735.hp1 others(39): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0017a0001c0031others(15): Show | a0001c0001t0001a0001c0017t0001a0001c0031t0001others(15): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0023others(39): Show | 42 | 246 | 0.1707 | 21 | c.219 others(42): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 97/100 | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39477075 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp2 HG06807.hp2 |
a0012a0023a0029 | a0012c0029a0023c0074a0029c0061 | a0012c0029t0001a0023c0074t0001a0029c0061t0003 | a0012c0029t0001g0212a0023c0074t0001g0206a0029c0061t0003g0232 | 3 | 246 | 0.0122 | 21 | c.219 others(42): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 97/100 | chr1 | TogoVar | ||||||
MACO1_chr1_25425897_25505209 | 25454489 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0086a0001c0001t0002g0098a0001c0001t0025g0084 | 3 | 282 | 0.0106 | 21 | c.473 others(36): Show |
MACO1 | ENSG00000204178.11 | transcript | ENST00000374343.5 | protein_coding | 4/10 | chr1 | TogoVar | ||||||
MAD2L1_chr4_120050623_120071848 | 120069571 | G | GTGGTTAT others(14): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 382 | 0.0026 | 21 | c.-28 others(32): Show |
MAD2L1 | ENSG00000164109.14 | transcript | ENST00000296509.11 | protein_coding | 2724 | chr4 | TogoVar | ||||||
MADCAM1_chr19_491486_510343 | 497328 | G | GGGGGGGC others(14): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0167 | 1 | 364 | 0.0028 | 21 | c.53- others(34): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MADCAM1_chr19_491486_510343 | 497347 | A | AGGGGGGC others(14): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 364 | 0.0028 | 21 | c.53- others(34): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MAEA_chr4_1284891_1345137 | 1296443 | C | CTCACCCG others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03471.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0264a0001c0005t0001g0265 | 2 | 388 | 0.0052 | 21 | c.69+ others(36): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAEA_chr4_1284891_1345137 | 1337334 | T | TTGCCTGT others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(168): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(168): Show | 171 | 388 | 0.4407 | 21 | c.899 others(36): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAFA_chr8_143423064_143435732 | 143430504 | C | CCCGGCGG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG01261.hp1 HG02083.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0000 | 3 | 446 | 0.0067 | 21 | c.-99 others(28): Show |
MAFA | ENSG00000182759.4 | transcript | ENST00000333480.3 | protein_coding | 1/1 | 99 | chr8 | TogoVar | |||||
MAFA_chr8_143423064_143435732 | 143430515 | C | CGGGGGGG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02300.hp2 NA18975.hp2 NA19012.hp1 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0023a0001c0001t0043a0007c0011t0024 | a0001c0001t0023g0000a0001c0001t0043g0000a0007c0011t0024g0000 | 3 | 446 | 0.0067 | 21 | c.-11 others(30): Show |
MAFA | ENSG00000182759.4 | transcript | ENST00000333480.3 | protein_coding | 1/1 | 110 | chr8 | TogoVar | |||||
MAGEA12_chrX_152728757_152742669 | 152729992 | T | TATATATA others(14): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 322 | 0.0031 | 21 | c.-40 others(32): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3764 | chrX | TogoVar | ||||||
MAGEA2_chrX_152744863_152758842 | 152754305 | T | TGGATCCT others(14): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 191 | 0.0052 | 21 | c.-84 others(30): Show |
MAGEA2 | ENSG00000268606.6 | transcript | ENST00000684311.1 | protein_coding | 464 | chrX | TogoVar |