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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MFSD6_chr2_190403355_190507314 | 190454975 | TATGTATA others(18): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01074.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0071 a0001c0001t0002g0072 others(17): Show |
20 | 342 | 0.0585 | -25 | c.153 others(46): Show |
MFSD6 | ENSG00000151690.15 | transcript | ENST00000392328.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142041984 | TATAATAT others(18): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG03942.hp2 |
a0002a0031 | a0002c0016a0031c0036 | a0002c0016t0001a0031c0036t0001 | a0002c0016t0001g0207 a0031c0036t0001g0183 |
2 | 301 | 0.0066 | -25 | c.249 others(44): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142042070 | ATAACATA others(18): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 314 | 0.0032 | -25 | c.249 others(44): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | chr7 | TogoVar | |||||||
MGAM_chr7_141990879_142111747 | 142042182 | TATTATAT others(18): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0025 | a0025c0049 | a0025c0049t0002 | a0025c0049t0002g0237 | 1 | 314 | 0.0032 | -25 | c.249 others(44): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142045185 | ATGATATA others(18): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0013 | a0013c0041 | a0013c0041t0001 | a0013c0041t0001g0308 | 1 | 314 | 0.0032 | -25 | c.249 others(44): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | chr7 | TogoVar | |||||||
MGAT1_chr5_180779780_180807806 | 180804136 | CACGGGCC others(18): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00735.hp1 others(80): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0012a0001c0001t0053a0001c0001t0071others(40): Show | a0001c0001t0012g0005 a0001c0001t0012g0274 a0001c0001t0012g0281 others(61): Show |
83 | 434 | 0.1912 | -25 | c.-16 others(36): Show |
MGAT1 | ENSG00000131446.17 | transcript | ENST00000307826.5 | protein_coding | 1331 | chr5 | TogoVar | |||||||
MIA2_chr14_39228915_39355694 | 39288444 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0307 | 1 | 364 | 0.0027 | -25 | c.213 others(44): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 9/28 | chr14 | TogoVar | |||||||
MIB1_chr18_21735792_21875953 | 21738806 | CAAAAAAA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01081.hp2 HG02074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0153 a0001c0001t0002g0270 a0001c0001t0007g0051 others(3): Show |
6 | 8 | 0.7500 | -25 | c.-27 others(36): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 1985 | chr18 | TogoVar | |||||||
MICB_chr6_31493145_31516124 | 31498446 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0072 | 1 | 82 | 0.0122 | -25 | c.70+ others(38): Show |
MICB | ENSG00000204516.10 | transcript | ENST00000252229.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MICU1_chr10_72362340_72631079 | 72500275 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 206 | 0.0049 | -25 | c.652 others(42): Show |
MICU1 | ENSG00000107745.20 | transcript | ENST00000361114.10 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79438639 | GTAGTGAG others(18): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0174 | 1 | 372 | 0.0027 | -25 | c.-51 others(42): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MINDY1_chr1_150991835_151011902 | 151004731 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02074.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0050 |
3 | 17 | 0.1765 | -25 | c.-90 others(42): Show |
MINDY1 | ENSG00000143409.18 | transcript | ENST00000683666.2 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
MINDY2_chr15_58766302_58866900 | 58852947 | TTTTTTTT others(18): Show |
T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0342 | 1 | 284 | 0.0035 | -25 | c.173 others(43): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
MIS18BP1_chr14_45198190_45258202 | 45254314 | GAACCCTG others(18): Show |
G | upstream_gene_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 244 | 0.0041 | -25 | c.-13 others(36): Show |
MIS18BP1 | ENSG00000129534.14 | transcript | ENST00000310806.9 | protein_coding | 1113 | chr14 | TogoVar | |||||||
MISP_chr19_746112_769318 | 754826 | AGGTTTGG others(18): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01884.hp2 others(4): Show |
a0002a0003a0004others(1): Show | a0002c0024a0003c0007a0004c0009others(2): Show | a0002c0024t0001a0003c0007t0001a0003c0007t0006others(3): Show | a0002c0024t0001g0128 a0003c0007t0001g0255 a0003c0007t0006g0083 others(4): Show |
7 | 430 | 0.0163 | -25 | c.-57 others(42): Show |
MISP | ENSG00000099812.9 | transcript | ENST00000215582.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MISP_chr19_746112_769318 | 754991 | AGAGGGCC others(18): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0262 | 1 | 430 | 0.0023 | -25 | c.-57 others(42): Show |
MISP | ENSG00000099812.9 | transcript | ENST00000215582.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MKKS_chr20_10396009_10439222 | 10431527 | AAAACCAA others(18): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 a0001c0001t0004g0057 |
2 | 194 | 0.0103 | -25 | c.-64 others(44): Show |
MKKS | ENSG00000125863.20 | transcript | ENST00000347364.7 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
MKNK1_chr1_46552407_46609268 | 46585249 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(1): Show |
4 | 10 | 0.4000 | -25 | c.-2- others(40): Show |
MKNK1 | ENSG00000079277.22 | transcript | ENST00000371945.10 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
MKRN1_chr7_140448033_140484505 | 140474004 | AAAAAGAA others(18): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01123.hp1 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0066 others(2): Show |
9 | 364 | 0.0247 | -25 | c.186 others(42): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
MKX_chr10_27667874_27750819 | 27686389 | AAGGGAAA others(18): Show |
A | intron_variant | MODIFIER | HG00597.hp2 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0058 a0001c0001t0029g0061 |
2 | 202 | 0.0099 | -25 | c.839 others(44): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544524 | GGGGGGAC others(18): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02559.hp1 |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0008c0011t0015 | a0002c0002t0001g0145 a0002c0002t0001g0146 a0008c0011t0015g0251 |
3 | 267 | 0.0112 | -25 | c.153 others(44): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MMD_chr17_55387622_55426835 | 55406103 | TTCAAAAA others(18): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02451.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0003g0098 a0001c0001t0007g0025 a0001c0001t0007g0030 others(12): Show |
20 | 406 | 0.0493 | -25 | c.344 others(42): Show |
MMD | ENSG00000108960.9 | transcript | ENST00000262065.8 | protein_coding | 4/6 | chr17 | TogoVar | |||||||
MMEL1_chr1_2585639_2638016 | 2634692 | GTCCCCCC others(18): Show |
G | upstream_gene_variant | MODIFIER | HG03831.hp2 HG04199.hp1 NA19065.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 a0002c0002t0003g0111 |
3 | 342 | 0.0088 | -25 | c.-18 others(36): Show |
MMEL1 | ENSG00000142606.16 | transcript | ENST00000378412.8 | protein_coding | 1677 | chr1 | TogoVar | |||||||
MME_chr3_155075319_155188704 | 155092090 | CTTGTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0038 | 1 | 334 | 0.0030 | -25 | c.196 others(42): Show |
MME | ENSG00000196549.13 | transcript | ENST00000360490.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MMGT1_chrX_135955588_135978988 | 135974269 | GCCGAGGG others(18): Show |
G | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 263 | 0.0038 | -25 | c.-61 others(34): Show |
MMGT1 | ENSG00000169446.6 | transcript | ENST00000305963.3 | protein_coding | 282 | chrX | TogoVar | |||||||
MMP27_chr11_102686487_102710769 | 102689982 | TTTTTCTT others(18): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 | 1 | 187 | 0.0053 | -25 | c.*17 others(36): Show |
MMP27 | ENSG00000137675.5 | transcript | ENST00000260229.5 | protein_coding | 1504 | chr11 | TogoVar | |||||||
MMRN1_chr4_89889854_89959614 | 89891678 | TTCAATAT others(18): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02818.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0004a0005c0006t0001a0005c0006t0004 | a0001c0001t0004g0154 a0001c0001t0004g0157 a0001c0001t0004g0162 others(2): Show |
5 | 366 | 0.0137 | -25 | c.-32 others(36): Show |
MMRN1 | ENSG00000138722.10 | transcript | ENST00000264790.7 | protein_coding | 3175 | chr4 | TogoVar | |||||||
MND1_chr4_153339688_153420118 | 153344682 | TCCCGCCC others(18): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 a0001c0003t0004g0100 a0001c0003t0004g0101 |
4 | 340 | 0.0118 | -25 | c.-53 others(32): Show |
MND1 | ENSG00000121211.8 | transcript | ENST00000240488.8 | protein_coding | 1/8 | 29 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MOBP_chr3_39462680_39508027 | 39468912 | AGTGTGTA others(18): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02148.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
3 | 395 | 0.0076 | -25 | c.-89 others(42): Show |
MOBP | ENSG00000168314.19 | transcript | ENST00000684792.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MORC2_chr22_30920130_30973774 | 30960916 | GTGCAAGC others(18): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00639.hp1 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0011a0001c0002t0012others(2): Show | a0001c0002t0008g0010 a0001c0002t0008g0018 a0001c0002t0008g0096 others(18): Show |
24 | 368 | 0.0652 | -25 | c.69- others(40): Show |
MORC2 | ENSG00000133422.14 | transcript | ENST00000397641.8 | protein_coding | 1/25 | chr22 | TogoVar | |||||||
MORF4L1_chr15_78867890_78903139 | 78890155 | GGTTGCAG others(18): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 410 | 0.0024 | -25 | c.324 others(40): Show |
MORF4L1 | ENSG00000185787.15 | transcript | ENST00000426013.7 | protein_coding | 5/11 | chr15 | TogoVar | |||||||
MPHOSPH6_chr16_82143162_82175224 | 82170964 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0001 a0001c0001t0003g0069 a0001c0001t0005g0002 others(3): Show |
6 | 408 | 0.0147 | -25 | c.-81 others(34): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 741 | chr16 | TogoVar | |||||||
MPHOSPH6_chr16_82143162_82175224 | 82170966 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(71): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0004c0010others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0030 others(28): Show |
74 | 356 | 0.2079 | -25 | c.-81 others(34): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 743 | chr16 | TogoVar | |||||||
MPHOSPH6_chr16_82143162_82175224 | 82170968 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG03041.hp1 HG03486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0001 a0001c0001t0005g0002 a0001c0001t0005g0165 others(2): Show |
8 | 425 | 0.0188 | -25 | c.-81 others(34): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 745 | chr16 | TogoVar | |||||||
MPHOSPH6_chr16_82143162_82175224 | 82170970 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 430 | 0.0023 | -25 | c.-82 others(34): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 747 | chr16 | TogoVar | |||||||
MPI_chr15_74885042_74907219 | 74894069 | TGTGTGTG others(18): Show |
T | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 420 | 0.0024 | -25 | c.670 others(40): Show |
MPI | ENSG00000178802.18 | transcript | ENST00000352410.9 | protein_coding | 5/7 | chr15 | TogoVar | |||||||
MPRIP_chr17_17037457_17197643 | 17066723 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA19007.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0025 | a0001c0001t0002g0080 a0001c0010t0025g0201 a0001c0010t0025g0202 |
3 | 7 | 0.4286 | -25 | c.124 others(42): Show |
MPRIP | ENSG00000133030.22 | transcript | ENST00000651222.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MRI1_chr19_13759522_13779282 | 13767025 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02897.hp2 NA20129.hp1 |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0026 a0009c0011t0001g0123 |
2 | 453 | 0.0044 | -25 | c.547 others(40): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MRI1_chr19_13759522_13779282 | 13767027 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 425 | 0.0024 | -25 | c.547 others(40): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MRI1_chr19_13759522_13779282 | 13767029 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0007 | a0001c0001t0002g0122 a0001c0001t0002g0136 a0002c0002t0007g0023 others(1): Show |
7 | 333 | 0.0210 | -25 | c.547 others(40): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MROH9_chr1_170930534_171069765 | 171044972 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0211 | 1 | 24 | 0.0417 | -25 | c.228 others(46): Show |
MROH9 | ENSG00000117501.15 | transcript | ENST00000367759.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MRPL3_chr3_131457212_131507971 | 131475953 | AACATGTT others(18): Show |
A | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 388 | 0.0026 | -25 | c.630 others(42): Show |
MRPL3 | ENSG00000114686.9 | transcript | ENST00000264995.8 | protein_coding | 6/9 | chr3 | TogoVar | |||||||
MRPL46_chr15_88454478_88472388 | 88460182 | CTGCTGGC others(18): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 290 | 0.0138 | -25 | c.590 others(40): Show |
MRPL46 | ENSG00000259494.2 | transcript | ENST00000312475.5 | protein_coding | 3/3 | chr15 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73788021 | CGGGGAGA others(18): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01081.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0311 a0001c0001t0003g0312 others(19): Show |
23 | 282 | 0.0816 | -25 | c.21+ others(36): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL51_chr12_6486886_6498262 | 6498111 | GTTGCCCA others(18): Show |
G | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | -25 | c.-50 others(36): Show |
MRPL51 | ENSG00000111639.8 | transcript | ENST00000229238.5 | protein_coding | 4850 | chr12 | TogoVar | |||||||
MRTFA_chr22_40405289_40641719 | 40501439 | AGTAGGGG others(18): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02293.hp1 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0080 a0001c0001t0002g0175 a0001c0001t0003g0072 |
3 | 150 | 0.0200 | -25 | c.242 others(44): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFB_chr16_14066319_14271773 | 14127911 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 180 | 0.0056 | -25 | c.-63 others(44): Show |
MRTFB | ENSG00000186260.17 | transcript | ENST00000571589.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MS4A14_chr11_60391459_60422756 | 60419045 | ATATATAG others(18): Show |
A | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 426 | 0.0023 | -25 | c.*20 others(36): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1290 | chr11 | TogoVar | |||||||
MS4A6E_chr11_60322255_60346341 | 60342282 | CCTTCCGC others(18): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 448 | 0.0022 | -25 | c.*15 others(36): Show |
MS4A6E | ENSG00000166926.9 | transcript | ENST00000684409.1 | protein_coding | 942 | chr11 | TogoVar | |||||||
MSH2_chr2_47398156_47488223 | 47415794 | GACGTGGC others(18): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 others(4): Show |
7 | 368 | 0.0190 | -25 | c.943 others(40): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 5/15 | chr2 | TogoVar |