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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF26B_chr1_245149985_245714432 | 245614857 | TTCGGATA others(61): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG01243.hp1 others(19): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0006a0001c0001t0016a0001c0001t0024others(18): Show | a0001c0001t0006g0104a0001c0001t0016g0097a0001c0001t0024g0070others(19): Show | 22 | 160 | 0.1375 | -68 | c.209 others(87): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KLHDC4_chr16_87702812_87770986 | 87725207 | GCACGGCA others(61): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 380 | 0.0026 | -68 | c.759 others(85): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | ||||||
KLHL38_chr8_123639442_123658801 | 123656170 | AGCAAGCC others(61): Show |
A | upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 446 | 0.0022 | -68 | c.-26 others(79): Show |
KLHL38 | ENSG00000175946.9 | transcript | ENST00000684634.1 | protein_coding | 2370 | chr8 | TogoVar | ||||||
KMT5B_chr11_68149863_68218296 | 68217780 | CTTTCTTT others(61): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 328 | 0.0031 | -68 | c.-47 others(79): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 4485 | chr11 | TogoVar | ||||||
LHFPL6_chr13_39337892_39608193 | 39352843 | ATATATAA others(61): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02683.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0010 | a0001c0001t0008g0164a0001c0002t0010g0022 | 2 | 242 | 0.0083 | -68 | c.485 others(85): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
LIAT1_chr17_405325_419666 | 417814 | GATGCAGT others(61): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00621.hp2 others(171): Show |
a0002a0004a0005others(17): Show | a0002c0002a0004c0004a0005c0005others(18): Show | a0002c0002t0001a0002c0002t0004a0004c0004t0001others(20): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0010others(35): Show | 174 | 434 | 0.4009 | -68 | c.*37 others(79): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 3149 | chr17 | TogoVar | ||||||
LIMS1_chr2_108529470_108692246 | 108552302 | GTAGTATA others(61): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0215a0001c0002t0007g0216 | 2 | 246 | 0.0081 | -68 | c.32+ others(85): Show |
LIMS1 | ENSG00000169756.17 | transcript | ENST00000544547.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LMF1_chr16_848634_975984 | 858169 | CGTGGTGT others(61): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0235 | 1 | 294 | 0.0034 | -68 | c.153 others(87): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 886545 | ATTCCCCA others(61): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 NA18943.hp2 |
a0001a0007 | a0001c0001a0001c0002a0007c0028 | a0001c0001t0001a0001c0002t0001a0007c0028t0004 | a0001c0001t0001g0267a0001c0002t0001g0027a0007c0028t0004g0265 | 3 | 294 | 0.0102 | -68 | c.729 others(85): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 5/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953534 | TATCCACA others(61): Show |
T | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 294 | 0.0034 | -68 | c.503 others(83): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953583 | CCCAAACC others(61): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01517.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253a0001c0001t0001g0254a0001c0001t0001g0255others(1): Show | 4 | 294 | 0.0136 | -68 | c.503 others(83): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LMOD1_chr1_201891456_201951548 | 201901560 | ATATGTAT others(61): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0025others(54): Show | 57 | 400 | 0.1425 | -68 | c.262 others(83): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
LOC400499_chr16_11367015_11532247 | 11499120 | AAGGGGGG others(61): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00673.hp1 others(17): Show |
a0001a0003a0014others(13): Show | a0001c0001a0003c0096a0014c0011others(13): Show | a0001c0001t0003a0003c0096t0001a0014c0011t0001others(13): Show | a0001c0001t0003g0201a0001c0001t0003g0202a0001c0001t0003g0256others(17): Show | 20 | 310 | 0.0645 | -68 | c.124 others(87): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 10/66 | chr16 | TogoVar | ||||||
LPAR3_chr1_84806602_84898206 | 84877400 | CGGCAGAT others(61): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0183 | 1 | 382 | 0.0026 | -68 | c.-18 others(87): Show |
LPAR3 | ENSG00000171517.6 | transcript | ENST00000370611.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
LPCAT1_chr5_1456427_1528960 | 1475733 | CCCGAGTG others(61): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0002g0041a0001c0001t0002g0125a0001c0001t0002g0241others(56): Show | 63 | 386 | 0.1632 | -68 | c.900 others(85): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
LPCAT1_chr5_1456427_1528960 | 1477717 | ACCTGCTG others(61): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01496.hp1 HG01891.hp1 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0007t0007others(3): Show | a0001c0001t0004g0077a0001c0001t0007g0003a0001c0001t0007g0034others(11): Show | 15 | 386 | 0.0389 | -68 | c.817 others(83): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 8/13 | chr5 | TogoVar | ||||||
LPCAT1_chr5_1456427_1528960 | 1477921 | GCCTGCTG others(61): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0248 | 1 | 386 | 0.0026 | -68 | c.817 others(83): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 8/13 | chr5 | TogoVar | ||||||
LPIN3_chr20_41335821_41365582 | 41360393 | GAAGGAAG others(61): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0001 | 1 | 404 | 0.0025 | -68 | c.*15 others(79): Show |
LPIN3 | ENSG00000132793.12 | transcript | ENST00000373257.8 | protein_coding | 20/20 | 1530 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
LPP_chr3_188149157_188895671 | 188785212 | TATATATA others(61): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0009 | a0003c0009t0015 | a0003c0009t0015g0066 | 1 | 76 | 0.0132 | -68 | c.141 others(89): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRCOL1_chr12_132598151_132615582 | 132602134 | CGATTCTG others(61): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00733.hp2 others(50): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0089others(11): Show | 53 | 390 | 0.1359 | -68 | c.*12 others(79): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 1016 | chr12 | TogoVar | ||||||
LRPAP1_chr4_3498612_3537422 | 3522590 | TCGGACGC others(61): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02809.hp1 |
a0001 | a0001c0007 | a0001c0007t0049a0001c0007t0119 | a0001c0007t0049g0059a0001c0007t0119g0305 | 3 | 420 | 0.0071 | -68 | c.349 others(85): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
LRRC4C_chr11_40109209_41464652 | 40860373 | GTCTGAAA others(61): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 48 | 0.0208 | -68 | c.-40 others(89): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 2/6 | chr11 | TogoVar | ||||||
LRRK1_chr15_100914357_101083257 | 101052363 | AGAGCTCC others(61): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp2 others(41): Show |
a0001a0003a0004others(3): Show | a0001c0006a0001c0007a0001c0008others(14): Show | a0001c0006t0159a0001c0006t0193a0001c0006t0194others(38): Show | a0001c0006t0159g0140a0001c0006t0193g0100a0001c0006t0194g0024others(41): Show | 44 | 338 | 0.1302 | -68 | c.368 others(85): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
LRRK1_chr15_100914357_101083257 | 101052383 | TGTTTACC others(61): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02630.hp2 others(8): Show |
a0001a0006a0027 | a0001c0008a0001c0010a0001c0079others(3): Show | a0001c0008t0051a0001c0010t0204a0001c0010t0207others(7): Show | a0001c0008t0051g0271a0001c0010t0204g0011a0001c0010t0207g0115others(8): Show | 11 | 338 | 0.0325 | -68 | c.368 others(85): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
LRRTM4_chr2_76742685_77527376 | 77251147 | GTGTGTAT others(61): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01074.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0057others(40): Show | 43 | 128 | 0.3359 | -68 | c.155 others(91): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
LSAMP_chr3_115797374_116450487 | 115861091 | CTCTCTCC others(61): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01175.hp1 HG01175.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001a0001c0002t0009others(6): Show | a0001c0001t0012g0037a0001c0002t0001g0083a0001c0002t0001g0084others(7): Show | 10 | 104 | 0.0962 | -68 | c.515 others(85): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
LSG1_chr3_194635791_194677191 | 194645507 | CACACACA others(61): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0293 | 1 | 408 | 0.0025 | -68 | c.162 others(85): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24926261 | GTATATAT others(61): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03453.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0040a0001c0001t0006g0035a0001c0001t0006g0047others(1): Show | 4 | 116 | 0.0345 | -68 | c.522 others(87): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 25019855 | CATACTTT others(61): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0016others(1): Show | a0001c0001t0003g0036a0001c0001t0003g0095a0001c0001t0006g0035others(4): Show | 7 | 116 | 0.0603 | -68 | c.766 others(87): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LYPD8_chr1_248734415_248760759 | 248746908 | CCAGCACC others(61): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0006g0047 | 3 | 374 | 0.0080 | -68 | c.337 others(85): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
MAGEA8_chrX_149876183_149890825 | 149877703 | CCAATGGC others(61): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02258.hp1 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0001a0002c0004t0001g0002a0002c0004t0001g0007 | 10 | 287 | 0.0348 | -68 | c.-37 others(79): Show |
MAGEA8 | ENSG00000156009.10 | transcript | ENST00000286482.6 | protein_coding | 3479 | chrX | TogoVar | ||||||
MAGEB2_chrX_30210563_30225089 | 30211598 | AAAAAATG others(61): Show |
A | upstream_gene_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 320 | 0.0031 | -68 | c.-40 others(79): Show |
MAGEB2 | ENSG00000099399.6 | transcript | ENST00000378988.5 | protein_coding | 3964 | chrX | TogoVar | ||||||
MAGI2_chr7_78012055_79458667 | 78085826 | GGTGTTGT others(61): Show |
G | intron_variant | MODIFIER | NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001 | a0001c0003t0002g0012a0001c0004t0001g0016 | 2 | 40 | 0.0500 | -68 | c.356 others(87): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 20/21 | chr7 | TogoVar | ||||||
MAGI2_chr7_78012055_79458667 | 79028250 | TATATATA others(61): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 1 | 40 | 0.0250 | -68 | c.302 others(87): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19171976 | TATATCAT others(61): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0024 | a0024c0113 | a0024c0113t0001 | a0024c0113t0001g0038 | 1 | 152 | 0.0066 | -68 | c.183 others(87): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 13/39 | chr10 | TogoVar | ||||||
MAPK8IP3_chr16_1701195_1775351 | 1740133 | TGTCCGTG others(61): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG04228.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0171a0002c0002t0001g0185 | 2 | 330 | 0.0061 | -68 | c.603 others(85): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MBP_chr18_76973833_77137783 | 77036854 | GGACTGAG others(61): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(54): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0039a0001c0001t0001g0060a0001c0001t0001g0064others(54): Show | 57 | 396 | 0.1439 | -68 | c.140 others(87): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94390049 | CATATATA others(61): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(69): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0013a0001c0001t0001g0047a0001c0001t0001g0069others(69): Show | 72 | 276 | 0.2609 | -68 | c.178 others(87): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MEGF11_chr15_65890299_66258750 | 66039746 | TCTGAGCC others(61): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0017a0001c0001t0001g0036a0002c0002t0001g0005others(3): Show | 6 | 176 | 0.0341 | -68 | c.394 others(87): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 5/25 | chr15 | TogoVar | ||||||
METAP1D_chr2_171994953_172087430 | 172042198 | CATATACA others(61): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02004.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004a0001c0001t0004g0011a0001c0001t0004g0031others(2): Show | 5 | 356 | 0.0140 | -68 | c.41- others(85): Show |
METAP1D | ENSG00000172878.14 | transcript | ENST00000315796.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MFSD14B_chr9_94369569_94466042 | 94452679 | ATATATTC others(61): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01358.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(1): Show | 4 | 350 | 0.0114 | -68 | c.915 others(85): Show |
MFSD14B | ENSG00000148110.17 | transcript | ENST00000375344.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MIA2_chr14_39228915_39355694 | 39277680 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01168.hp2 others(34): Show |
a0001a0003a0005others(3): Show | a0001c0003a0003c0004a0003c0012others(4): Show | a0001c0003t0001a0003c0004t0001a0003c0012t0001others(4): Show | a0001c0003t0001g0209a0001c0003t0001g0210a0001c0003t0001g0261others(34): Show | 37 | 368 | 0.1005 | -68 | c.201 others(85): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MIOX_chr22_50481859_50495648 | 50488815 | ATCCCTCC others(61): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(107): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0002a0001c0001t0002g0002a0001c0001t0002g0058others(23): Show | 110 | 436 | 0.2523 | -68 | c.409 others(83): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MIOX_chr22_50481859_50495648 | 50488855 | TCTTCCCC others(61): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0045 | 1 | 436 | 0.0023 | -68 | c.409 others(82): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MIOX_chr22_50481859_50495648 | 50488918 | TGACACCT others(61): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 436 | 0.0023 | -68 | c.409 others(81): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MIS18BP1_chr14_45198190_45258202 | 45218855 | TTAGTTCT others(61): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp1 others(40): Show |
a0002a0014 | a0002c0002a0014c0014 | a0002c0002t0001a0002c0002t0007a0002c0002t0011others(1): Show | a0002c0002t0001g0012a0002c0002t0001g0013a0002c0002t0001g0014others(37): Show | 43 | 246 | 0.1748 | -68 | c.267 others(85): Show |
MIS18BP1 | ENSG00000129534.14 | transcript | ENST00000310806.9 | protein_coding | 11/16 | chr14 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543561 | GGGCACGG others(61): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0089 | 1 | 286 | 0.0035 | -68 | c.153 others(85): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543854 | GGGGGACA others(61): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205a0001c0001t0001g0258 | 2 | 286 | 0.0070 | -68 | c.153 others(87): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237545042 | TGGGGACA others(61): Show |
T | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0064 | 1 | 286 | 0.0035 | -68 | c.154 others(87): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MMGT1_chrX_135955588_135978988 | 135974168 | GTGGGTGG others(61): Show |
G | upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 265 | 0.0038 | -68 | c.-56 others(77): Show |
MMGT1 | ENSG00000169446.6 | transcript | ENST00000305963.3 | protein_coding | 181 | chrX | TogoVar |