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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MITF_chr3_69734464_69973332 | 69757996 | CATGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0135 | 2 | 178 | 0.0112 | -18 | c.104 others(37): Show |
MITF | ENSG00000187098.18 | transcript | ENST00000352241.9 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
MITF_chr3_69734464_69973332 | 69757997 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00733.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(43): Show | 46 | 178 | 0.2584 | -18 | c.104 others(37): Show |
MITF | ENSG00000187098.18 | transcript | ENST00000352241.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MKLN1_chr7_131322876_131501632 | 131439865 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(120): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0053a0001c0001t0001g0054others(118): Show | 123 | 320 | 0.3844 | -18 | c.117 others(37): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MKLN1_chr7_131322876_131501632 | 131444742 | TAGTAGTA others(11): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022a0001c0001t0034 | a0001c0001t0010g0164a0001c0001t0010g0171a0001c0001t0022g0165others(2): Show | 5 | 320 | 0.0156 | -18 | c.139 others(37): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MKLN1_chr7_131322876_131501632 | 131444745 | TAGTAGTA others(11): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01884.hp2 HG02056.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0013a0001c0001t0046others(2): Show | a0001c0001t0002g0254a0001c0001t0002g0271a0001c0001t0002g0275others(9): Show | 12 | 320 | 0.0375 | -18 | c.139 others(36): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MKLN1_chr7_131322876_131501632 | 131464215 | ATGCAGTT others(11): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp2 HG02615.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0022a0001c0001t0034others(2): Show | a0001c0001t0010g0164a0001c0001t0010g0167a0001c0001t0010g0168others(7): Show | 10 | 320 | 0.0313 | -18 | c.167 others(33): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MKNK1_chr1_46552407_46609268 | 46585249 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA18954.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140a0001c0001t0002g0141 | 2 | 346 | 0.0058 | -18 | c.-2- others(33): Show |
MKNK1 | ENSG00000079277.22 | transcript | ENST00000371945.10 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
MKRN2OS_chr3_12534776_12550499 | 12548465 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | -18 | c.-30 others(29): Show |
MKRN2OS | ENSG00000225526.6 | transcript | ENST00000564146.4 | protein_coding | 2967 | chr3 | TogoVar | ||||||
MKX_chr10_27667874_27750819 | 27711445 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG00673.hp1 NA18943.hp1 NA19068.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0036a0001c0001t0005g0059a0001c0001t0005g0060others(1): Show | 4 | 354 | 0.0113 | -18 | c.838 others(37): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
MKX_chr10_27667874_27750819 | 27711459 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 354 | 0.0028 | -18 | c.838 others(37): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
MKX_chr10_27667874_27750819 | 27711463 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0166a0001c0001t0001g0184a0001c0001t0001g0193others(16): Show | 19 | 354 | 0.0537 | -18 | c.838 others(37): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
MKX_chr10_27667874_27750819 | 27743942 | GTTGGATG others(11): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0335 | 3 | 354 | 0.0085 | -18 | c.-82 others(33): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
MLH1_chr3_36988518_37055846 | 37014740 | GCTGGTTG others(11): Show |
G | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 282 | 0.0036 | -18 | c.790 others(33): Show |
MLH1 | ENSG00000076242.17 | transcript | ENST00000231790.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MLLT10_chr10_21529232_21748630 | 21676720 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0052 | 2 | 192 | 0.0104 | -18 | c.162 others(37): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MLLT3_chr9_20336669_20627499 | 20343183 | CAAAAAAA others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0104 | 1 | 186 | 0.0054 | -18 | c.*32 others(29): Show |
MLLT3 | ENSG00000171843.17 | transcript | ENST00000380338.9 | protein_coding | 11/11 | 3242 | chr9 | TogoVar | |||||
MLLT3_chr9_20336669_20627499 | 20417183 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 186 | 0.0054 | -18 | c.421 others(35): Show |
MLLT3 | ENSG00000171843.17 | transcript | ENST00000380338.9 | protein_coding | 4/10 | chr9 | TogoVar | ||||||
MLLT3_chr9_20336669_20627499 | 20498227 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03041.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0044a0001c0002t0002 | a0001c0001t0002g0023a0001c0001t0044g0075a0001c0002t0002g0022 | 3 | 186 | 0.0161 | -18 | c.194 others(37): Show |
MLLT3 | ENSG00000171843.17 | transcript | ENST00000380338.9 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
MLLT6_chr17_38700273_38734795 | 38706350 | CTCCCGCC others(11): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 311 | 0.0032 | -18 | c.110 others(33): Show |
MLLT6 | ENSG00000275023.5 | transcript | ENST00000621332.5 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237542735 | GGGGACAG others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG02300.hp1 HG03491.hp1 others(7): Show |
a0007a0017a0026 | a0007c0007a0017c0020a0026c0040 | a0007c0007t0002a0017c0020t0002a0017c0020t0009others(1): Show | a0007c0007t0002g0029a0007c0007t0002g0030a0007c0007t0002g0031others(7): Show | 10 | 286 | 0.0350 | -18 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237542992 | GGGCACAG others(11): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG06807.hp2 |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0002a0005c0004t0001 | a0001c0001t0002g0171a0005c0004t0001g0019 | 2 | 286 | 0.0070 | -18 | c.153 others(35): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543097 | GACAGTGG others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 286 | 0.0035 | -18 | c.153 others(35): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543183 | GACAGTGG others(11): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG03098.hp1 others(1): Show |
a0006a0032 | a0006c0006a0032c0047 | a0006c0006t0003a0006c0006t0005a0032c0047t0005 | a0006c0006t0003g0120a0006c0006t0005g0020a0006c0006t0005g0139others(1): Show | 4 | 286 | 0.0140 | -18 | c.153 others(35): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543352 | TGGGCACG others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 |
a0002a0031 | a0002c0002a0031c0028 | a0002c0002t0002a0031c0028t0001 | a0002c0002t0002g0095a0031c0028t0001g0128 | 2 | 286 | 0.0070 | -18 | c.153 others(35): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543477 | GCACGGTA others(11): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG03225.hp2 NA18522.hp1 |
a0009a0034 | a0009c0011a0034c0032 | a0009c0011t0001a0009c0011t0002a0034c0032t0002 | a0009c0011t0001g0089a0009c0011t0002g0271a0034c0032t0002g0049 | 3 | 286 | 0.0105 | -18 | c.153 others(35): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543560 | TGGGCACG others(11): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 286 | 0.0035 | -18 | c.153 others(35): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543674 | AGTGACTG others(11): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02451.hp1 HG02622.hp1 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0003 | a0003c0003t0001g0106a0003c0003t0001g0107a0003c0003t0001g0108others(7): Show | 10 | 286 | 0.0350 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543750 | TGGGCACG others(11): Show |
T | intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0022 | 1 | 286 | 0.0035 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543770 | GGGACAGT others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG02630.hp2 HG03516.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0037a0003c0003 | a0001c0001t0004a0001c0037t0001a0003c0003t0002 | a0001c0001t0004g0149a0001c0037t0001g0222a0003c0003t0002g0238others(1): Show | 4 | 286 | 0.0140 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543836 | TGGGCACG others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02300.hp1 HG02965.hp1 others(5): Show |
a0002a0003a0004others(3): Show | a0002c0002a0003c0003a0004c0014others(3): Show | a0002c0002t0002a0003c0003t0002a0004c0014t0001others(3): Show | a0002c0002t0002g0062a0003c0003t0002g0256a0004c0014t0001g0230others(5): Show | 8 | 286 | 0.0280 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543843 | GGTAGTGA others(11): Show |
G | intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0065 | 1 | 286 | 0.0035 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543856 | GGGACAGT others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02896.hp1 others(3): Show |
a0003a0005 | a0003c0003a0005c0004 | a0003c0003t0001a0003c0003t0005a0005c0004t0001 | a0003c0003t0001g0264a0003c0003t0001g0267a0003c0003t0005g0265others(3): Show | 6 | 286 | 0.0210 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543956 | TGGGGGAC others(11): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0271 | 1 | 286 | 0.0035 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543990 | TGGGCACG others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG03491.hp1 others(1): Show |
a0001a0007a0017 | a0001c0001a0007c0007a0017c0020 | a0001c0001t0001a0007c0007t0002a0017c0020t0009 | a0001c0001t0001g0144a0007c0007t0002g0227a0007c0007t0002g0228others(1): Show | 4 | 286 | 0.0140 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543997 | GGTAGTGA others(11): Show |
G | intron_variant | MODIFIER | HG03710.hp2 NA19091.hp2 |
a0007a0021 | a0007c0007a0021c0026 | a0007c0007t0002a0021c0026t0002 | a0007c0007t0002g0029a0021c0026t0002g0038 | 2 | 286 | 0.0070 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544010 | GGGACAGT others(11): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 286 | 0.0035 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544076 | TGGGCACG others(11): Show |
T | intron_variant | MODIFIER | HG02280.hp2 NA18969.hp2 |
a0004a0028 | a0004c0005a0028c0034 | a0004c0005t0002a0028c0034t0017 | a0004c0005t0002g0283a0028c0034t0017g0129 | 2 | 286 | 0.0070 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544111 | GGGCACGG others(11): Show |
G | intron_variant | MODIFIER | NA18939.hp1 NA18939.hp2 |
a0001a0002 | a0001c0022a0002c0002 | a0001c0022t0001a0002c0002t0002 | a0001c0022t0001g0244a0002c0002t0002g0072 | 2 | 286 | 0.0070 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544145 | TGGGGACA others(11): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0237 | 1 | 286 | 0.0035 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544400 | TGGGGACA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG02300.hp1 |
a0017 | a0017c0020 | a0017c0020t0002a0017c0020t0009 | a0017c0020t0002g0173a0017c0020t0009g0172 | 2 | 286 | 0.0070 | -18 | c.153 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544636 | CACTGTAG others(11): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0142a0002c0002t0001g0143 | 2 | 286 | 0.0070 | -18 | c.154 others(37): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLXIP_chr12_122073756_122152344 | 122084144 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01981.hp2 | a0014 | a0014c0023 | a0014c0023t0002 | a0014c0023t0002g0345 | 1 | 354 | 0.0028 | -18 | c.413 others(35): Show |
MLXIP | ENSG00000175727.15 | transcript | ENST00000319080.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MLYCD_chr16_83894115_83932031 | 83918564 | GGTGCACA others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01358.hp2 HG01433.hp2 others(8): Show |
a0001a0012 | a0001c0001a0001c0004a0012c0017 | a0001c0001t0031a0001c0001t0059a0001c0001t0060others(6): Show | a0001c0001t0031g0041a0001c0001t0059g0050a0001c0001t0060g0050others(7): Show | 11 | 432 | 0.0255 | -18 | c.*30 others(29): Show |
MLYCD | ENSG00000103150.7 | transcript | ENST00000262430.6 | protein_coding | 5/5 | 3084 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
MMEL1_chr1_2585639_2638016 | 2609034 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 |
a0002a0011 | a0002c0012a0011c0020 | a0002c0012t0001a0011c0020t0001 | a0002c0012t0001g0126a0011c0020t0001g0266 | 2 | 343 | 0.0058 | -18 | c.535 others(33): Show |
MMEL1 | ENSG00000142606.16 | transcript | ENST00000378412.8 | protein_coding | 6/23 | chr1 | TogoVar | ||||||
MME_chr3_155075319_155188704 | 155174325 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 336 | 0.0030 | -18 | c.215 others(37): Show |
MME | ENSG00000196549.13 | transcript | ENST00000360490.7 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MMP20_chr11_102571832_102630332 | 102624401 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137a0002c0002t0001g0138 | 2 | 446 | 0.0045 | -18 | c.126 others(33): Show |
MMP20 | ENSG00000137674.4 | transcript | ENST00000260228.3 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
MMP23B_chr1_1627173_1639654 | 1630225 | CGCAGCTC others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01109.hp1 HG01123.hp2 others(43): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0006c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(10): Show | 46 | 432 | 0.1065 | -18 | c.-19 others(29): Show |
MMP23B | ENSG00000189409.14 | transcript | ENST00000356026.10 | protein_coding | 1947 | chr1 | TogoVar | ||||||
MMP26_chr11_4699784_4997429 | 4781553 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0024others(17): Show | 20 | 206 | 0.0971 | -18 | c.-14 others(39): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MMP26_chr11_4699784_4997429 | 4838315 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0141 | 2 | 206 | 0.0097 | -18 | c.-14 others(39): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MMP26_chr11_4699784_4997429 | 4890979 | GAATAATA others(11): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 206 | 0.0049 | -18 | c.-14 others(39): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MMP28_chr17_35760865_35800641 | 35771696 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03195.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0113a0001c0001t0001g0136others(1): Show | 4 | 309 | 0.0129 | -18 | c.605 others(35): Show |
MMP28 | ENSG00000271447.6 | transcript | ENST00000605424.6 | protein_coding | 4/7 | chr17 | TogoVar |