view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRK1_chr15_100914357_101083257 | 100962823 | A | ATATACAT others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0002 | 1 | 338 | 0.0030 | 48 | c.98- others(65): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
LRRTM4_chr2_76742685_77527376 | 77362170 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 128 | 0.0078 | 48 | c.155 others(71): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
LRRTM4_chr2_76742685_77527376 | 77362170 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 128 | 0.0078 | 48 | c.155 others(71): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
LRTM1_chr3_54913231_54933059 | 54930653 | C | CTAAAGTT others(41): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 348 | 0.0029 | 48 | c.-27 others(59): Show |
LRTM1 | ENSG00000144771.8 | transcript | ENST00000273286.6 | protein_coding | 2595 | chr3 | TogoVar | |||||||
LRWD1_chr7_102459984_102478168 | 102467070 | G | GGTGTGTG others(41): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 428 | 0.0023 | 48 | c.433 others(63): Show |
LRWD1 | ENSG00000161036.13 | transcript | ENST00000292616.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LSG1_chr3_194635791_194677191 | 194645553 | C | CAGACAGA others(41): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19043.hp2 |
a0001 | a0001c0007 | a0001c0007t0033 | a0001c0007t0033g0345a0001c0007t0033g0347 | 2 | 408 | 0.0049 | 48 | c.162 others(65): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
LSG1_chr3_194635791_194677191 | 194645589 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0377 | 1 | 408 | 0.0025 | 48 | c.162 others(65): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
LSP1_chr11_1848084_1897263 | 1874120 | G | GCAGAGCA others(41): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00738.hp1 others(6): Show |
a0002a0003 | a0002c0001a0003c0004a0003c0006 | a0002c0001t0001a0003c0004t0001a0003c0006t0001 | a0002c0001t0001g0215a0003c0004t0001g0034a0003c0004t0001g0178others(5): Show | 9 | 360 | 0.0250 | 48 | c.54- others(63): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
LTBP2_chr14_74493183_74617237 | 74540803 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103a0001c0001t0003g0219 | 2 | 282 | 0.0071 | 48 | c.179 others(67): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 8/35 | chr14 | TogoVar | |||||||
LTBP2_chr14_74493183_74617237 | 74543538 | T | TTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01070.hp1 HG01071.hp1 others(37): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(13): Show | a0001c0001t0001g0055a0001c0001t0001g0074a0001c0001t0001g0102others(35): Show | 40 | 282 | 0.1418 | 48 | c.178 others(67): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 8/35 | chr14 | TogoVar | |||||||
LTBP2_chr14_74493183_74617237 | 74564113 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0194 | 1 | 282 | 0.0036 | 48 | c.831 others(65): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
LTBP2_chr14_74493183_74617237 | 74564139 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120a0001c0001t0003g0121a0001c0001t0003g0122others(1): Show | 4 | 282 | 0.0142 | 48 | c.831 others(65): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
LTBP4_chr19_40596369_40634818 | 40633816 | G | GAAAGAGA others(41): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0301 | 1 | 338 | 0.0030 | 48 | c.*42 others(59): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 3999 | chr19 | TogoVar | |||||||
LUC7L2_chr7_139354894_139428454 | 139424850 | G | GTTTTTTT others(41): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 276 | 0.0036 | 48 | c.*25 others(59): Show |
LUC7L2 | ENSG00000146963.18 | transcript | ENST00000354926.9 | protein_coding | 1397 | chr7 | TogoVar | |||||||
LURAP1L_chr9_12770020_12828060 | 12807094 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG01169.hp1 others(15): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0170a0001c0001t0001g0218a0001c0001t0002g0016others(15): Show | 18 | 418 | 0.0431 | 48 | c.313 others(67): Show |
LURAP1L | ENSG00000153714.6 | transcript | ENST00000319264.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LY86_chr6_6583720_6659982 | 6585671 | T | TTATATAT others(41): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02965.hp2 HG03710.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0147a0001c0001t0001g0176others(3): Show | 6 | 424 | 0.0142 | 48 | c.-30 others(59): Show |
LY86 | ENSG00000112799.9 | transcript | ENST00000230568.5 | protein_coding | 3048 | chr6 | TogoVar | |||||||
LY86_chr6_6583720_6659982 | 6659078 | C | CGAGAACA others(41): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(186): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(181): Show | 189 | 424 | 0.4458 | 48 | c.*44 others(59): Show |
LY86 | ENSG00000112799.9 | transcript | ENST00000230568.5 | protein_coding | 4097 | chr6 | TogoVar | |||||||
LY86_chr6_6583720_6659982 | 6659078 | C | CGAGAACA others(41): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 424 | 0.0024 | 48 | c.*44 others(59): Show |
LY86 | ENSG00000112799.9 | transcript | ENST00000230568.5 | protein_coding | 4097 | chr6 | TogoVar | |||||||
LY86_chr6_6583720_6659982 | 6659107 | C | CAACCCAG others(41): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(116): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(113): Show | 119 | 424 | 0.2807 | 48 | c.*44 others(59): Show |
LY86 | ENSG00000112799.9 | transcript | ENST00000230568.5 | protein_coding | 4126 | chr6 | TogoVar | |||||||
LYN_chr8_55874835_56019169 | 55942333 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 HG02818.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0009others(5): Show | a0001c0002t0002g0159a0001c0002t0008g0004a0001c0002t0008g0084others(16): Show | 19 | 288 | 0.0660 | 48 | c.132 others(63): Show |
LYN | ENSG00000254087.8 | transcript | ENST00000519728.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LYPD5_chr19_43790927_43807447 | 43794410 | C | CATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 NA18906.hp1 |
a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0010 | 2 | 428 | 0.0047 | 48 | c.*31 others(59): Show |
LYPD5 | ENSG00000159871.15 | transcript | ENST00000377950.8 | protein_coding | 1516 | chr19 | TogoVar | |||||||
LYPD6B_chr2_149033699_149220262 | 149099428 | T | TGTACCTA others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 264 | 0.0038 | 48 | c.-66 others(67): Show |
LYPD6B | ENSG00000150556.17 | transcript | ENST00000409642.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248740728 | C | CGCAATTT others(41): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03209.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0008a0004c0004t0003 | a0001c0001t0008g0273a0004c0004t0003g0096 | 2 | 374 | 0.0054 | 48 | c.476 others(63): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
LYPLA1_chr8_54041367_54106947 | 54084133 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0149 | 2 | 306 | 0.0065 | 48 | c.101 others(67): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
LYPLA1_chr8_54041367_54106947 | 54084133 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 306 | 0.0033 | 48 | c.101 others(67): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
LYRM7_chr5_131165944_131210428 | 131181458 | T | TATATATG others(41): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0060 | a0001c0001t0016g0004a0001c0001t0016g0026a0001c0001t0016g0027others(3): Show | 6 | 300 | 0.0200 | 48 | c.92- others(61): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LYRM7_chr5_131165944_131210428 | 131181467 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0098 | 1 | 300 | 0.0033 | 48 | c.92- others(61): Show |
LYRM7 | ENSG00000186687.16 | transcript | ENST00000379380.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LYSMD3_chr5_90510626_90534584 | 90514755 | A | AACACACA others(41): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0020 | 1 | 410 | 0.0024 | 48 | c.*40 others(59): Show |
LYSMD3 | ENSG00000176018.13 | transcript | ENST00000315948.11 | protein_coding | 870 | chr5 | TogoVar | |||||||
LYZL2_chr10_30606779_30634753 | 30611702 | A | AAAAGAAA others(41): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 NA18968.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352a0001c0001t0001g0362a0001c0001t0001g0399 | 3 | 456 | 0.0066 | 48 | c.*25 others(57): Show |
LYZL2 | ENSG00000151033.10 | transcript | ENST00000647634.2 | protein_coding | 76 | chr10 | TogoVar | |||||||
LZIC_chr1_9921293_9948391 | 9924333 | T | TATCCATA others(41): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0059 | 1 | 370 | 0.0027 | 48 | c.*60 others(59): Show |
LZIC | ENSG00000162441.12 | transcript | ENST00000377223.6 | protein_coding | 1959 | chr1 | TogoVar | |||||||
MACIR_chr5_103253763_103283660 | 103261638 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 360 | 0.0028 | 48 | c.-11 others(67): Show |
MACIR | ENSG00000181751.10 | transcript | ENST00000319933.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14230654 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 24 | 0.0417 | 48 | c.271 others(69): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 2101303 | T | TCAGGTGG others(41): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0132 | 1 | 264 | 0.0038 | 48 | c.107 others(69): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 11/18 | chr7 | TogoVar | |||||||
MAD2L2_chr1_11669480_11686148 | 11669666 | G | GTATACAT others(41): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02723.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0002t0001g0023a0001c0002t0001g0041others(1): Show | 11 | 430 | 0.0256 | 48 | c.*51 others(59): Show |
MAD2L2 | ENSG00000116670.16 | transcript | ENST00000376692.9 | protein_coding | 4813 | chr1 | TogoVar | |||||||
MADCAM1_chr19_491486_510343 | 501738 | C | CGGACTCT others(41): Show |
disruptive_inframe_insertion | MODERATE | HG02257.hp2 HG03139.hp1 HG03195.hp1 |
a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0041a0012c0022t0001g0268 | 3 | 364 | 0.0082 | 48 | c.740 others(55): Show |
p.Pro others(61): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 4/5 | 755/1541 | 741/1149 | 247/382 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
MADCAM1_chr19_491486_510343 | 501743 | T | TCTCCCGA others(41): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0012a0001c0016others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(28): Show | a0001c0001t0001g0012a0001c0001t0001g0040a0001c0001t0001g0081others(184): Show | 240 | 364 | 0.6593 | 48 | c.784 others(55): Show |
p.Ser others(61): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 4/5 | 799/1541 | 785/1149 | 262/382 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
MADCAM1_chr19_491486_510343 | 501743 | T | TCTCCCGA others(41): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp2 | a0002 | a0002c0032 | a0002c0032t0001 | a0002c0032t0001g0092 | 1 | 364 | 0.0028 | 48 | c.770 others(55): Show |
p.Pro others(61): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 4/5 | 785/1541 | 771/1149 | 257/382 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
MADCAM1_chr19_491486_510343 | 501762 | A | AGGAGCCT others(41): Show |
disruptive_inframe_insertion | MODERATE | HG00280.hp2 HG00738.hp2 HG01099.hp2 others(1): Show |
a0011 | a0011c0018 | a0011c0018t0002 | a0011c0018t0002g0033a0011c0018t0002g0177a0011c0018t0002g0260 | 4 | 364 | 0.0110 | 48 | c.784 others(55): Show |
p.Ser others(61): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 4/5 | 799/1541 | 785/1149 | 262/382 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
MAGI1_chr3_65348526_66043918 | 65530854 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 104 | 0.0096 | 48 | c.431 others(67): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65530854 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 104 | 0.0096 | 48 | c.431 others(67): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65690723 | A | ACCTCCCA others(41): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02040.hp2 HG02155.hp1 others(9): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0063a0001c0001t0001g0085others(9): Show | 12 | 104 | 0.1154 | 48 | c.314 others(67): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78503560 | C | CCCTCCCC others(41): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0030 | 1 | 40 | 0.0250 | 48 | c.755 others(65): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 4/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79367858 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0034 | 1 | 40 | 0.0250 | 48 | c.301 others(67): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113437874 | T | TCTTCTTC others(41): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 236 | 0.0042 | 48 | c.316 others(67): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAK_chr6_10757723_10843539 | 10828104 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 272 | 0.0037 | 48 | c.101 others(65): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19175463 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0050a0008c0006t0001g0051 | 2 | 152 | 0.0132 | 48 | c.195 others(65): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19719207 | T | TACACATA others(41): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0079 | a0079c0088 | a0079c0088t0001 | a0079c0088t0001g0013 | 1 | 152 | 0.0066 | 48 | c.631 others(69): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 340 | 0.0029 | 48 | c.191 others(67): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 | 1 | 340 | 0.0029 | 48 | c.191 others(67): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 340 | 0.0029 | 48 | c.191 others(67): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |