| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MGAT3_chr22_39452012_39497194 | 39475128 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 306 | 0.0033 | 25 | c.-1- others(42): Show |
MGAT3 | ENSG00000128268.12 | transcript | ENST00000341184.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MGAT4C_chr12_85950667_86261391 | 86138477 | C | CCATATAT others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(128): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(107): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(128): Show | 131 | 186 | 0.7043 | 25 | c.-56 others(44): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| MGAT4C_chr12_85950667_86261391 | 86138496 | T | TATATATC others(18): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0013a0001c0001t0028others(9): Show | a0001c0001t0006g0002a0001c0001t0006g0008a0001c0001t0013g0168others(10): Show | 13 | 186 | 0.0699 | 25 | c.-56 others(44): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| MGAT4C_chr12_85950667_86261391 | 86138591 | C | CCATATAT others(18): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 | 1 | 186 | 0.0054 | 25 | c.-56 others(44): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| MGAT5B_chr17_76863404_76955393 | 76951849 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02630.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0239a0002c0002t0005g0240 | 2 | 278 | 0.0072 | 25 | c.*30 others(36): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 1457 | chr17 | TogoVar | ||||||
| MGAT5_chr2_134249072_134459621 | 134334496 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19064.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0035a0001c0001t0058 | a0001c0001t0005g0105a0001c0001t0035g0123a0001c0001t0058g0009 | 3 | 282 | 0.0106 | 25 | c.574 others(42): Show |
MGAT5 | ENSG00000152127.9 | transcript | ENST00000281923.4 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MGAT5_chr2_134249072_134459621 | 134381364 | T | TAGATAGA others(18): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0152 | 1 | 282 | 0.0036 | 25 | c.138 others(46): Show |
MGAT5 | ENSG00000152127.9 | transcript | ENST00000281923.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MGAT5_chr2_134249072_134459621 | 134387332 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03669.hp1 NA19081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0018 | a0001c0001t0001g0170a0001c0001t0011g0075a0001c0001t0011g0163others(1): Show | 4 | 282 | 0.0142 | 25 | c.138 others(46): Show |
MGAT5 | ENSG00000152127.9 | transcript | ENST00000281923.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MGA_chr15_41655405_41774940 | 41656344 | T | TCTCTCTC others(18): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 HG02132.hp1 HG03710.hp2 others(6): Show |
a0001a0009a0022 | a0001c0001a0009c0009a0022c0036 | a0001c0001t0001a0001c0001t0002a0009c0009t0002others(1): Show | a0001c0001t0001g0134a0001c0001t0002g0097a0001c0001t0002g0130others(6): Show | 9 | 292 | 0.0308 | 25 | c.-42 others(36): Show |
MGA | ENSG00000174197.19 | transcript | ENST00000703841.1 | protein_coding | 4060 | chr15 | TogoVar | ||||||
| MGA_chr15_41655405_41774940 | 41762461 | G | GTTTTTTG others(18): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 292 | 0.0034 | 25 | c.789 others(42): Show |
MGA | ENSG00000174197.19 | transcript | ENST00000703841.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| MGME1_chr20_17964018_17996122 | 17983267 | T | TTTGTGTG others(18): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0098 | 1 | 402 | 0.0025 | 25 | c.732 others(42): Show |
MGME1 | ENSG00000125871.14 | transcript | ENST00000377710.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MGMT_chr10_129462241_129775983 | 129646754 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 194 | 0.0052 | 25 | c.126 others(44): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MGMT_chr10_129462241_129775983 | 129646754 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0045 | 1 | 194 | 0.0052 | 25 | c.126 others(44): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MGST2_chr4_139660819_139709243 | 139702844 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG01257.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0001g0047a0001c0001t0001g0061others(7): Show | 10 | 440 | 0.0227 | 25 | c.230 others(40): Show |
MGST2 | ENSG00000085871.9 | transcript | ENST00000265498.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MICAL2_chr11_12105590_12268785 | 12180349 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0342 | 1 | 358 | 0.0028 | 25 | c.264 others(44): Show |
MICAL2 | ENSG00000133816.19 | transcript | ENST00000683283.1 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MICAL2_chr11_12105590_12268785 | 12180350 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0086 | 1 | 358 | 0.0028 | 25 | c.264 others(44): Show |
MICAL2 | ENSG00000133816.19 | transcript | ENST00000683283.1 | protein_coding | 3/27 | chr11 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17866608 | C | CAGAATAG others(18): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02257.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0053a0001c0001t0002g0171a0001c0002t0001g0178others(8): Show | 11 | 274 | 0.0402 | 25 | c.242 others(42): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 17/31 | chr22 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17866613 | C | CAGAATAG others(18): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0008a0002c0016t0003 | a0001c0001t0008g0028a0002c0016t0003g0003 | 2 | 274 | 0.0073 | 25 | c.242 others(42): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 17/31 | chr22 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17982679 | T | TCATAACA others(18): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02258.hp1 others(3): Show |
a0001a0004a0008others(3): Show | a0001c0001a0004c0007a0008c0027others(3): Show | a0001c0001t0006a0004c0007t0031a0008c0027t0002others(3): Show | a0001c0001t0006g0263a0004c0007t0031g0169a0008c0027t0002g0074others(3): Show | 6 | 274 | 0.0219 | 25 | c.-75 others(44): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 1/31 | chr22 | TogoVar | ||||||
| MICU1_chr10_72362340_72631079 | 72492789 | G | GAATAAAA others(18): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01346.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023a0001c0001t0002g0025a0001c0001t0002g0045others(2): Show | 5 | 208 | 0.0240 | 25 | c.652 others(44): Show |
MICU1 | ENSG00000107745.20 | transcript | ENST00000361114.10 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| MID1_chrX_10440556_10625585 | 10533377 | A | AAAGAAAG others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0114 | 1 | 165 | 0.0061 | 25 | c.661 others(44): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| MID2_chrX_107820866_107936637 | 107906841 | C | CTCCCAAA others(18): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 181 | 0.0055 | 25 | c.107 others(44): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MIEN1_chr17_39723510_39735532 | 39724272 | A | ATTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 364 | 0.0055 | 25 | c.*52 others(36): Show |
MIEN1 | ENSG00000141741.12 | transcript | ENST00000394231.8 | protein_coding | 4237 | chr17 | TogoVar | ||||||
| MIER1_chr1_66919990_66993619 | 66972239 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 248 | 0.0040 | 25 | c.100 others(42): Show |
MIER1 | ENSG00000198160.15 | transcript | ENST00000401041.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MINAR1_chr15_79427336_79477304 | 79470476 | C | CAAATCCA others(18): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02630.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0145a0001c0006t0010g0224a0001c0006t0010g0240others(1): Show | 4 | 390 | 0.0103 | 25 | c.*20 others(36): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 4/4 | 2119 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
| MINDY2_chr15_58766302_58866900 | 58852287 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0267 | 1 | 384 | 0.0026 | 25 | c.173 others(42): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| MIX23_chr3_122354591_122388231 | 122356134 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02717.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0016 | a0001c0001t0010g0007a0001c0001t0011g0019a0001c0001t0016g0150 | 3 | 420 | 0.0071 | 25 | c.*37 others(36): Show |
MIX23 | ENSG00000160124.9 | transcript | ENST00000291458.9 | protein_coding | 3456 | chr3 | TogoVar | ||||||
| MKKS_chr20_10396009_10439222 | 10427021 | A | ACTGACAC others(18): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03486.hp2 NA18953.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0030a0002c0002t0005g0313a0002c0002t0005g0331others(1): Show | 5 | 390 | 0.0128 | 25 | c.-64 others(44): Show |
MKKS | ENSG00000125863.20 | transcript | ENST00000347364.7 | protein_coding | 1/5 | chr20 | TogoVar | ||||||
| MKLN1_chr7_131322876_131501632 | 131411906 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0272a0001c0001t0020g0227 | 2 | 320 | 0.0063 | 25 | c.781 others(40): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MKLN1_chr7_131322876_131501632 | 131422460 | A | AGGAGGAT others(18): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 320 | 0.0031 | 25 | c.848 others(42): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MKNK1_chr1_46552407_46609268 | 46564044 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01515.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035a0001c0001t0002g0068a0001c0001t0002g0093others(1): Show | 4 | 346 | 0.0116 | 25 | c.609 others(40): Show |
MKNK1 | ENSG00000079277.22 | transcript | ENST00000371945.10 | protein_coding | 9/12 | chr1 | TogoVar | ||||||
| MLC1_chr22_50054391_50090426 | 50081009 | A | AAAGAGAA others(18): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 212 | 0.0047 | 25 | c.268 others(40): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 3/11 | chr22 | TogoVar | ||||||
| MLEC_chr12_120682149_120706859 | 120684030 | T | TAAATAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0015a0001c0001t0008g0006 | 2 | 408 | 0.0049 | 25 | c.-32 others(36): Show |
MLEC | ENSG00000110917.8 | transcript | ENST00000228506.8 | protein_coding | 3118 | chr12 | TogoVar | ||||||
| MLEC_chr12_120682149_120706859 | 120684030 | T | TAAATAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 408 | 0.0025 | 25 | c.-32 others(36): Show |
MLEC | ENSG00000110917.8 | transcript | ENST00000228506.8 | protein_coding | 3118 | chr12 | TogoVar | ||||||
| MLF1_chr3_158566194_158611456 | 158607230 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01261.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003a0002c0002t0002g0026a0002c0002t0002g0029others(5): Show | 10 | 380 | 0.0263 | 25 | c.*20 others(36): Show |
MLF1 | ENSG00000178053.21 | transcript | ENST00000466246.7 | protein_coding | 775 | chr3 | TogoVar | ||||||
| MLIP_chr6_54106443_54271280 | 54251651 | T | TATATAAT others(18): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0089 | 2 | 248 | 0.0081 | 25 | c.292 others(44): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MLIP_chr6_54106443_54271280 | 54251686 | A | ATGATATT others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0124 | 1 | 248 | 0.0040 | 25 | c.292 others(44): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237556209 | C | CACAAGTT others(18): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 286 | 0.0035 | 25 | c.*26 others(36): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 888 | chr2 | TogoVar | ||||||
| MLXIPL_chr7_73588202_73629522 | 73589196 | A | AATATAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 276 | 0.0036 | 25 | c.*46 others(36): Show |
MLXIPL | ENSG00000009950.16 | transcript | ENST00000313375.8 | protein_coding | 4005 | chr7 | TogoVar | ||||||
| MLXIP_chr12_122073756_122152344 | 122121010 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01167.hp1 HG02027.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010 | a0002c0002t0002g0197a0002c0002t0002g0223a0002c0002t0002g0226others(10): Show | 13 | 354 | 0.0367 | 25 | c.414 others(42): Show |
MLXIP | ENSG00000175727.15 | transcript | ENST00000319080.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MMD_chr17_55387622_55426835 | 55426141 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0026 | 1 | 408 | 0.0025 | 25 | c.-44 others(36): Show |
MMD | ENSG00000108960.9 | transcript | ENST00000262065.8 | protein_coding | 4307 | chr17 | TogoVar | ||||||
| MME_chr3_155075319_155188704 | 155133060 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0061a0001c0001t0003g0298 | 2 | 336 | 0.0060 | 25 | c.721 others(42): Show |
MME | ENSG00000196549.13 | transcript | ENST00000360490.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
| MME_chr3_155075319_155188704 | 155133062 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0165 | 1 | 336 | 0.0030 | 25 | c.721 others(42): Show |
MME | ENSG00000196549.13 | transcript | ENST00000360490.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MME_chr3_155075319_155188704 | 155133062 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019a0001c0001t0037others(1): Show | a0001c0001t0005g0295a0001c0001t0019g0198a0001c0001t0019g0201others(2): Show | 5 | 336 | 0.0149 | 25 | c.721 others(42): Show |
MME | ENSG00000196549.13 | transcript | ENST00000360490.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MME_chr3_155075319_155188704 | 155133062 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 336 | 0.0030 | 25 | c.721 others(42): Show |
MME | ENSG00000196549.13 | transcript | ENST00000360490.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MME_chr3_155075319_155188704 | 155133062 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 336 | 0.0030 | 25 | c.721 others(42): Show |
MME | ENSG00000196549.13 | transcript | ENST00000360490.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MMP16_chr8_88027011_88332483 | 88184746 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 186 | 0.0054 | 25 | c.404 others(42): Show |
MMP16 | ENSG00000156103.16 | transcript | ENST00000286614.11 | protein_coding | 3/9 | chr8 | TogoVar | ||||||
| MMP17_chr12_131823393_131856771 | 131827362 | G | GGGGGGGG others(18): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0253 | 1 | 398 | 0.0025 | 25 | c.-11 others(36): Show |
MMP17 | ENSG00000198598.7 | transcript | ENST00000360564.5 | protein_coding | 1030 | chr12 | TogoVar | ||||||
| MMP17_chr12_131823393_131856771 | 131827363 | G | GGGGGGGG others(18): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0280 | 1 | 398 | 0.0025 | 25 | c.-11 others(36): Show |
MMP17 | ENSG00000198598.7 | transcript | ENST00000360564.5 | protein_coding | 1029 | chr12 | TogoVar | ||||||
| MMP20_chr11_102571832_102630332 | 102601125 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG03710.hp1 others(7): Show |
a0002a0008 | a0002c0002a0008c0012 | a0002c0002t0001a0008c0012t0001 | a0002c0002t0001g0083a0002c0002t0001g0085a0002c0002t0001g0101others(7): Show | 10 | 446 | 0.0224 | 25 | c.953 others(42): Show |
MMP20 | ENSG00000137674.4 | transcript | ENST00000260228.3 | protein_coding | 6/9 | chr11 | TogoVar |