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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRD1_chr7_92139842_92184142 | 92174493 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 358 | 0.0028 | -19 | c.-75 others(36): Show |
LRRD1 | ENSG00000240720.10 | transcript | ENST00000458448.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
LRRD1_chr7_92139842_92184142 | 92174495 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18973.hp2 NA19070.hp2 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0156 |
3 | 358 | 0.0084 | -19 | c.-75 others(36): Show |
LRRD1 | ENSG00000240720.10 | transcript | ENST00000458448.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
LRRIQ3_chr1_74021015_74203176 | 74022362 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0068 a0001c0001t0003g0109 |
2 | 9 | 0.2222 | -19 | c.*44 others(30): Show |
LRRIQ3 | ENSG00000162620.16 | transcript | ENST00000354431.9 | protein_coding | 3652 | chr1 | TogoVar | |||||||
LRRIQ3_chr1_74021015_74203176 | 74103081 | TAAAAACC others(12): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 272 | 0.0037 | -19 | c.867 others(36): Show |
LRRIQ3 | ENSG00000162620.16 | transcript | ENST00000354431.9 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
LRRIQ3_chr1_74021015_74203176 | 74154240 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 5 | 0.2000 | -19 | c.707 others(36): Show |
LRRIQ3 | ENSG00000162620.16 | transcript | ENST00000354431.9 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
LRRIQ4_chr3_169807870_169842773 | 169830377 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02922.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0002 | 4 | 42 | 0.0952 | -19 | c.119 others(35): Show |
LRRIQ4 | ENSG00000188306.7 | transcript | ENST00000340806.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRK1_chr15_100914357_101083257 | 101008142 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0010a0001c0011a0001c0013others(9): Show | a0001c0010t0257a0001c0011t0010a0001c0011t0019others(15): Show | a0001c0010t0257g0121 a0001c0011t0010g0093 a0001c0011t0010g0167 others(16): Show |
19 | 29 | 0.6552 | -19 | c.763 others(34): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 6/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
LRRTM1_chr2_80296878_80309752 | 80306405 | TTTCTTTC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | -19 | c.-23 others(30): Show |
LRRTM1 | ENSG00000162951.11 | transcript | ENST00000295057.4 | protein_coding | 1654 | chr2 | TogoVar | |||||||
LSAMP_chr3_115797374_116450487 | 115837442 | CAAACGCT others(12): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01433.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(16): Show | a0001c0001t0003g0096 a0001c0001t0005g0012 a0001c0001t0005g0040 others(19): Show |
22 | 104 | 0.2115 | -19 | c.919 others(36): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 6/6 | chr3 | TogoVar | |||||||
LSAMP_chr3_115797374_116450487 | 116031538 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 3 | 0.3333 | -19 | c.389 others(38): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
LSAMP_chr3_115797374_116450487 | 116164684 | ATCCAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0047 | 1 | 104 | 0.0096 | -19 | c.156 others(38): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
LSM3_chr3_14173817_14206122 | 14180821 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 244 | 0.0041 | -19 | c.22- others(32): Show |
LSM3 | ENSG00000170860.4 | transcript | ENST00000306024.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LSM3_chr3_14173817_14206122 | 14180839 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0018 a0001c0001t0015g0099 |
5 | 394 | 0.0127 | -19 | c.22- others(32): Show |
LSM3 | ENSG00000170860.4 | transcript | ENST00000306024.4 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
LSM8_chr7_118179164_118209035 | 118181584 | GTTAAAAA others(12): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 | 1 | 412 | 0.0024 | -19 | c.-26 others(30): Show |
LSM8 | ENSG00000128534.8 | transcript | ENST00000249299.7 | protein_coding | 2579 | chr7 | TogoVar | |||||||
LSM8_chr7_118179164_118209035 | 118183971 | GAGGCTTC others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0114 | a0001c0001t0006g0003 a0001c0001t0114g0003 |
2 | 412 | 0.0049 | -19 | c.-25 others(28): Show |
LSM8 | ENSG00000128534.8 | transcript | ENST00000249299.7 | protein_coding | 192 | chr7 | TogoVar | |||||||
LSM8_chr7_118179164_118209035 | 118203426 | CTGTAGAC others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0044 | a0001c0002t0016g0009 a0001c0002t0016g0037 a0001c0002t0044g0009 |
8 | 412 | 0.0194 | -19 | c.*11 others(32): Show |
LSM8 | ENSG00000128534.8 | transcript | ENST00000249299.7 | protein_coding | 4/4 | 11425 | chr7 | TogoVar | ||||||
LSP1_chr11_1848084_1897263 | 1862765 | GCCTCCCC others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0018others(12): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0008others(16): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0013 others(189): Show |
243 | 358 | 0.6788 | -19 | c.53+ others(34): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LTBP1_chr2_32941953_33404509 | 33164352 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG03239.hp1 NA18942.hp2 NA18964.hp1 |
a0003 | a0003c0021a0003c0028 | a0003c0021t0002a0003c0021t0004a0003c0028t0038 | a0003c0021t0002g0101 a0003c0021t0004g0018 a0003c0028t0038g0036 |
3 | 116 | 0.0259 | -19 | c.120 others(40): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LTBP4_chr19_40596369_40634818 | 40625275 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG03710.hp2 HG03834.hp2 |
a0002a0017 | a0002c0002a0002c0030a0017c0046 | a0002c0002t0001a0002c0030t0001a0017c0046t0001 | a0002c0002t0001g0202 a0002c0030t0001g0220 a0017c0046t0001g0203 |
3 | 322 | 0.0093 | -19 | c.383 others(36): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | |||||||
LTBP4_chr19_40596369_40634818 | 40625277 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG02280.hp1 HG02451.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0195 a0002c0002t0001g0237 a0002c0002t0001g0238 others(4): Show |
7 | 329 | 0.0213 | -19 | c.383 others(36): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | |||||||
LTBP4_chr19_40596369_40634818 | 40625279 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 |
a0002a0007 | a0002c0002a0007c0021 | a0002c0002t0001a0007c0021t0001 | a0002c0002t0001g0261 a0007c0021t0001g0160 |
2 | 328 | 0.0061 | -19 | c.383 others(36): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | |||||||
LTC4S_chr5_179788986_179801647 | 179791100 | GTTTTTTT others(12): Show |
G | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 9 | 0.1111 | -19 | c.-29 others(30): Show |
LTC4S | ENSG00000213316.10 | transcript | ENST00000292596.15 | protein_coding | 2885 | chr5 | TogoVar | |||||||
LUC7L2_chr7_139354894_139428454 | 139399449 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 15 | 0.0667 | -19 | c.255 others(34): Show |
LUC7L2 | ENSG00000146963.18 | transcript | ENST00000354926.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 184351 | CTCCTCTC others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 348 | 0.0029 | -19 | c.*48 others(30): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 4638 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 185675 | CCAGGGGC others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 348 | 0.0029 | -19 | c.*35 others(30): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 3314 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 197207 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 225 | 0.0044 | -19 | c.687 others(36): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 6/9 | chr16 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24922825 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG02129.hp1 HG02145.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0025 a0001c0001t0002g0113 a0001c0001t0003g0081 others(13): Show |
16 | 98 | 0.1633 | -19 | c.522 others(36): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LY86_chr6_6583720_6659982 | 6600587 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 9 | 0.1111 | -19 | c.136 others(38): Show |
LY86 | ENSG00000112799.9 | transcript | ENST00000230568.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LYPD4_chr19_41832074_41849683 | 41843059 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02723.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0095 |
3 | 426 | 0.0070 | -19 | c.-12 others(36): Show |
LYPD4 | ENSG00000273111.6 | transcript | ENST00000609812.6 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
LYPD5_chr19_43790927_43807447 | 43796379 | TATGAAAG others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(126): Show |
a0002a0005a0006others(1): Show | a0002c0001a0002c0005a0005c0012others(2): Show | a0002c0001t0002a0002c0001t0006a0002c0001t0007others(6): Show | a0002c0001t0002g0001 a0002c0001t0002g0015 a0002c0001t0002g0019 others(27): Show |
129 | 426 | 0.3028 | -19 | c.*11 others(30): Show |
LYPD5 | ENSG00000159871.15 | transcript | ENST00000377950.8 | protein_coding | 5/5 | 1193 | chr19 | TogoVar | ||||||
LYRM1_chr16_20895771_20930006 | 20901783 | CCTGTTAG others(12): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
2 | 380 | 0.0053 | -19 | c.-1+ others(32): Show |
LYRM1 | ENSG00000102897.10 | transcript | ENST00000567954.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LYRM4_chr6_5103419_5265950 | 5245108 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0193 | 1 | 278 | 0.0036 | -19 | c.86+ others(36): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5245114 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0108 | 1 | 245 | 0.0041 | -19 | c.86+ others(36): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
LYST_chr1_235656041_235871906 | 235799928 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02818.hp1 NA20129.hp2 |
a0006 | a0006c0017a0006c0034 | a0006c0017t0001a0006c0034t0001 | a0006c0017t0001g0097 a0006c0034t0001g0096 |
2 | 17 | 0.1176 | -19 | c.400 others(36): Show |
LYST | ENSG00000143669.16 | transcript | ENST00000389793.7 | protein_coding | 10/52 | chr1 | TogoVar | |||||||
LZTS1_chr8_20241165_20308963 | 20251112 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(118): Show |
a0001a0007 | a0001c0002a0001c0010a0007c0008 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0002t0001g0221 a0001c0002t0002g0007 a0001c0002t0002g0016 others(117): Show |
121 | 374 | 0.3235 | -19 | c.115 others(36): Show |
LZTS1 | ENSG00000061337.16 | transcript | ENST00000381569.5 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
LZTS3_chr20_3157617_3178549 | 3174778 | GACAAATA others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 444 | 0.0023 | -19 | c.-15 others(30): Show |
LZTS3 | ENSG00000088899.16 | transcript | ENST00000337576.7 | protein_coding | 1230 | chr20 | TogoVar | |||||||
MACC1_chr7_20129655_20222384 | 20203497 | TGCATCCA others(12): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA18998.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0007a0003c0003t0001 | a0002c0002t0007g0215 a0003c0003t0001g0237 |
2 | 314 | 0.0064 | -19 | c.-21 others(40): Show |
MACC1 | ENSG00000183742.13 | transcript | ENST00000400331.10 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
MACF1_chr1_39199695_39492138 | 39360007 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | NA18971.hp1 NA18987.hp2 |
a0001a0047 | a0001c0017a0047c0077 | a0001c0017t0001a0047c0077t0001 | a0001c0017t0001g0028 a0047c0077t0001g0020 |
2 | 233 | 0.0086 | -19 | c.122 others(38): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 47/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39360009 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03471.hp1 HG03579.hp2 |
a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0215 a0005c0009t0003g0216 a0005c0009t0003g0217 |
3 | 220 | 0.0136 | -19 | c.122 others(38): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 47/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39360011 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03453.hp2 NA18522.hp2 others(1): Show |
a0015a0016a0052 | a0015c0023a0016c0022a0052c0049 | a0015c0023t0001a0016c0022t0001a0052c0049t0001 | a0015c0023t0001g0003 a0015c0023t0001g0004 a0016c0022t0001g0005 others(1): Show |
4 | 233 | 0.0172 | -19 | c.122 others(38): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 47/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39417713 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01081.hp1 others(24): Show |
a0002a0014a0023others(4): Show | a0002c0003a0002c0015a0014c0026others(5): Show | a0002c0003t0001a0002c0003t0002a0002c0015t0002others(6): Show | a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0002g0044 others(24): Show |
27 | 66 | 0.4091 | -19 | c.158 others(40): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 58/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACO1_chr1_25425897_25505209 | 25480930 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01106.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0006 a0001c0001t0002g0091 a0001c0001t0003g0005 others(11): Show |
15 | 251 | 0.0598 | -19 | c.115 others(38): Show |
MACO1 | ENSG00000204178.11 | transcript | ENST00000374343.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
MACROD2_chr20_13990516_16058197 | 14417047 | TATCTATC others(12): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG02257.hp1 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002a0002c0002t0007 | a0001c0001t0004g0008 a0002c0002t0002g0010 a0002c0002t0007g0013 |
3 | 24 | 0.1250 | -19 | c.272 others(38): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14962435 | CATATATA others(12): Show |
C | intron_variant | MODIFIER | HG03041.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0012 a0001c0001t0004g0008 |
2 | 24 | 0.0833 | -19 | c.419 others(40): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14978887 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01081.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(16): Show |
19 | 24 | 0.7917 | -19 | c.419 others(40): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 15822626 | ATTATTGA others(12): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 24 | 0.0417 | -19 | c.646 others(38): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROH2A1_chr5_135329381_135404231 | 135351543 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0137 a0001c0001t0003g0144 |
2 | 32 | 0.0625 | -19 | c.688 others(36): Show |
MACROH2A1 | ENSG00000113648.17 | transcript | ENST00000511689.6 | protein_coding | 6/8 | chr5 | TogoVar | |||||||
MACROH2A1_chr5_135329381_135404231 | 135383695 | GGTGTGGT others(12): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0135 a0001c0001t0003g0009 a0001c0001t0003g0023 others(3): Show |
9 | 220 | 0.0409 | -19 | c.172 others(36): Show |
MACROH2A1 | ENSG00000113648.17 | transcript | ENST00000511689.6 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1893252 | CGGCTGGG others(12): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(118): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 others(118): Show |
121 | 262 | 0.4618 | -19 | c.199 others(38): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2114674 | TTTTTTTA others(12): Show |
T | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 262 | 0.0038 | -19 | c.107 others(40): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 11/18 | chr7 | TogoVar |