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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LSG1_chr3_194635791_194677191 | 194645553 | C | CAGACAGA others(41): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19043.hp2 |
a0001 | a0001c0007 | a0001c0007t0033 | a0001c0007t0033g0032 | 2 | 389 | 0.0051 | 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 | a0002c0002t0006g0342 | 1 | 399 | 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 | a0002c0001t0001g0222 a0003c0004t0001g0034 a0003c0004t0001g0185 others(5): Show |
9 | 311 | 0.0289 | 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 | a0001c0001t0003g0103 a0001c0001t0003g0219 |
2 | 240 | 0.0083 | 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 |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(13): Show | a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0102 others(35): Show |
40 | 255 | 0.1569 | 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 | 222 | 0.0045 | 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 | a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 others(1): Show |
4 | 251 | 0.0159 | 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 | a0002c0002t0001g0262 | 1 | 275 | 0.0036 | 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 | 253 | 0.0040 | 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 |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0170 a0001c0001t0001g0215 a0001c0001t0002g0018 others(15): Show |
18 | 209 | 0.0861 | 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 | a0001c0001t0001g0128 a0001c0001t0001g0147 a0001c0001t0001g0193 others(3): Show |
6 | 201 | 0.0299 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(181): Show |
189 | 421 | 0.4489 | 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 | a0001c0001t0001g0163 | 1 | 233 | 0.0043 | 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(115): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(112): Show |
118 | 421 | 0.2803 | 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 | a0001c0002t0002a0001c0002t0004a0001c0002t0008others(5): Show | a0001c0002t0002g0159 a0001c0002t0004g0004 a0001c0002t0004g0085 others(16): Show |
19 | 252 | 0.0754 | 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 | 404 | 0.0050 | 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 | 169 | 0.0059 | 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 | a0001c0001t0008g0211 a0004c0004t0003g0105 |
2 | 371 | 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 | a0001c0001t0002g0020 a0001c0001t0002g0142 |
2 | 259 | 0.0077 | 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 | a0001c0001t0002g0131 | 1 | 258 | 0.0039 | 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 | a0001c0001t0016a0001c0001t0061 | a0001c0001t0016g0004 a0001c0001t0016g0036 a0001c0001t0016g0037 others(2): Show |
6 | 287 | 0.0209 | 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 | a0001c0001t0014g0104 | 1 | 289 | 0.0035 | 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 | a0001c0001t0010g0019 | 1 | 152 | 0.0066 | 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 | a0001c0001t0001g0351 a0001c0001t0001g0361 a0001c0001t0001g0398 |
3 | 290 | 0.0103 | 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 | a0001c0001t0024g0062 | 1 | 368 | 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 | a0001c0001t0002g0222 | 1 | 177 | 0.0056 | 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 | 10 | 0.1000 | 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 | 118 | 0.0085 | 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 | a0001c0001t0001g0012 a0001c0002t0001g0023 a0001c0002t0001g0041 others(1): Show |
11 | 401 | 0.0274 | 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 |
a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0044 a0013c0022t0001g0263 |
3 | 283 | 0.0106 | 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(236): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0010a0001c0012others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(28): Show | a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0083 others(183): Show |
239 | 277 | 0.8628 | 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 | a0002c0032t0001g0093 | 1 | 39 | 0.0256 | 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 |
a0010 | a0010c0018 | a0010c0018t0002 | a0010c0018t0002g0035 a0010c0018t0002g0175 a0010c0018t0002g0255 |
4 | 361 | 0.0111 | 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 | 43 | 0.0233 | 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 | 43 | 0.0233 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0085 others(9): Show |
12 | 99 | 0.1212 | 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 | 20 | 0.0500 | 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 | 8 | 0.1250 | 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 | 74 | 0.0135 | 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 | a0001c0001t0001g0013 | 1 | 270 | 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 |
a0011 | a0011c0007 | a0011c0007t0001 | a0011c0007t0001g0050 a0011c0007t0001g0051 |
2 | 121 | 0.0165 | 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 | a0062 | a0062c0085 | a0062c0085t0001 | a0062c0085t0001g0013 | 1 | 148 | 0.0068 | 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 | 17 | 0.0588 | 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 | a0001c0001t0004g0084 | 1 | 17 | 0.0588 | 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 | a0001c0001t0001g0026 | 1 | 17 | 0.0588 | 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 | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 17 | 0.0588 | 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 | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 17 | 0.0588 | 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 | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 17 | 0.0588 | 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 | HG02071.hp2 HG03516.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0005a0004c0005t0003 | a0001c0001t0005g0071 a0004c0005t0003g0008 |
2 | 18 | 0.1111 | 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 | NA18747.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0194 |
2 | 18 | 0.1111 | 48 | c.191 others(67): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |