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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNK7_chr11_65587836_65600800 | 65596816 | GGGAGTGC others(71): Show |
G | upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -78 | c.-11 others(89): Show |
KCNK7 | ENSG00000173338.13 | transcript | ENST00000340313.5 | protein_coding | 1017 | chr11 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2589584 | TACAGCAG others(71): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 208 | 0.0048 | -78 | c.139 others(95): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61955459 | CATATGTG others(71): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0029 others(74): Show |
77 | 244 | 0.3156 | -78 | c.483 others(97): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16501260 | CACCAAGA others(71): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00621.hp1 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0006a0001c0014others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0031 others(55): Show |
58 | 250 | 0.2320 | -78 | c.117 others(97): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 10/25 | chr20 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240779647 | CTTCCTCA others(71): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0026 | 1 | 330 | 0.0030 | -78 | c.882 others(95): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF4A_chrX_70285104_70425886 | 70373547 | TATATATA others(71): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG02074.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0002 | a0001c0001t0001g0053 a0001c0001t0002g0064 a0003c0005t0002g0054 others(5): Show |
8 | 259 | 0.0309 | -78 | c.167 others(95): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | chrX | TogoVar | |||||||
KIR2DL3_chr19_54733513_54758052 | 54738871 | AGTGGAGA others(71): Show |
A | intron_variant | MODIFIER | NA18952.hp1 NA19003.hp1 NA19066.hp1 |
a0012a0021 | a0012c0010a0021c0015 | a0012c0010t0006a0021c0015t0009 | a0012c0010t0006g0053 a0012c0010t0006g0055 a0021c0015t0009g0054 |
3 | 312 | 0.0096 | -78 | c.34+ others(91): Show |
KIR2DL3 | ENSG00000243772.8 | transcript | ENST00000342376.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KIR2DL3_chr19_54733513_54758052 | 54744884 | ATATATAT others(71): Show |
A | intron_variant | MODIFIER | NA19003.hp1 NA19066.hp1 |
a0012a0021 | a0012c0010a0021c0015 | a0012c0010t0006a0021c0015t0009 | a0012c0010t0006g0053 a0021c0015t0009g0054 |
2 | 312 | 0.0064 | -78 | c.664 others(93): Show |
KIR2DL3 | ENSG00000243772.8 | transcript | ENST00000342376.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KIR3DL3_chr19_54719442_54741632 | 54738871 | AGTGGAGA others(71): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00597.hp1 others(87): Show |
a0005a0006a0008others(11): Show | a0005c0013a0005c0014a0005c0065others(15): Show | a0005c0013t0002a0005c0014t0002a0005c0065t0002others(16): Show | a0005c0013t0002g0033 a0005c0013t0002g0050 a0005c0013t0002g0113 others(48): Show |
90 | 467 | 0.1927 | -78 | c.*27 others(89): Show |
KIR3DL3 | ENSG00000242019.2 | transcript | ENST00000291860.2 | protein_coding | 2240 | chr19 | TogoVar | |||||||
KIZ_chr20_21121082_21251622 | 21132542 | AAATGCTG others(71): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 314 | 0.0032 | -78 | c.152 others(93): Show |
KIZ | ENSG00000088970.16 | transcript | ENST00000619189.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KLK4_chr19_50901351_50916395 | 50913722 | GTCTCTCT others(71): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02622.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0003 a0001c0001t0003g0027 a0001c0001t0003g0037 others(5): Show |
13 | 414 | 0.0314 | -78 | c.-24 others(89): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2328 | chr19 | TogoVar | |||||||
KLK4_chr19_50901351_50916395 | 50914248 | GTCTCTCT others(71): Show |
G | upstream_gene_variant | MODIFIER | HG02723.hp1 HG03486.hp2 NA18906.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0002a0001c0001t0003a0002c0003t0004others(1): Show | a0001c0001t0002g0113 a0001c0001t0003g0127 a0002c0003t0004g0099 others(1): Show |
4 | 414 | 0.0097 | -78 | c.-29 others(89): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2854 | chr19 | TogoVar | |||||||
KRTAP5-11_chr11_71576855_71587875 | 71584800 | GAGTAAGA others(71): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01243.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0003g0000 others(1): Show |
12 | 464 | 0.0259 | -78 | c.-20 others(89): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 1926 | chr11 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129286775 | TAATATAT others(71): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG02723.hp2 |
a0012a0022 | a0012c0006a0022c0025 | a0012c0006t0002a0022c0025t0001 | a0012c0006t0002g0022 a0012c0006t0002g0037 a0022c0025t0001g0029 |
3 | 88 | 0.0341 | -78 | c.253 others(96): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 18/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214545 | TATATATA others(71): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 344 | 0.0029 | -78 | c.-21 others(95): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LBP_chr20_38341482_38382013 | 38379069 | CCTGCCCG others(71): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0024 | a0002c0024t0001 | a0002c0024t0001g0322 | 1 | 394 | 0.0025 | -78 | c.*24 others(89): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 2057 | chr20 | TogoVar | |||||||
LDHAL6A_chr11_18450856_18484601 | 18467980 | CGTATATA others(71): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0217 a0001c0001t0003g0059 a0001c0001t0003g0060 others(4): Show |
7 | 420 | 0.0167 | -78 | c.418 others(95): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36145271 | CGCCCGGC others(71): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0030 others(86): Show |
89 | 236 | 0.3771 | -78 | c.454 others(97): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LEFTY2_chr1_225931603_225946220 | 225943064 | GCATCCCC others(71): Show |
G | upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 454 | 0.0022 | -78 | c.-20 others(89): Show |
LEFTY2 | ENSG00000143768.13 | transcript | ENST00000366820.10 | protein_coding | 1845 | chr1 | TogoVar | |||||||
LEKR1_chr3_156821353_157051129 | 156899339 | TACACATA others(71): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 244 | 0.0041 | -78 | c.264 others(97): Show |
LEKR1 | ENSG00000197980.14 | transcript | ENST00000356539.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LGR5_chr12_71434798_71591310 | 71563926 | ATGTACAC others(71): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG03831.hp1 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0021 | a0001c0002t0002g0107 a0001c0002t0002g0134 a0001c0002t0021g0132 |
3 | 200 | 0.0150 | -78 | c.857 others(95): Show |
LGR5 | ENSG00000139292.13 | transcript | ENST00000266674.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LGR5_chr12_71434798_71591310 | 71563970 | CACACGCA others(71): Show |
C | intron_variant | MODIFIER | HG01943.hp1 NA21309.hp2 |
a0002a0006 | a0002c0003a0006c0011 | a0002c0003t0005a0006c0011t0003 | a0002c0003t0005g0195 a0006c0011t0003g0104 |
2 | 200 | 0.0100 | -78 | c.857 others(95): Show |
LGR5 | ENSG00000139292.13 | transcript | ENST00000266674.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LGR5_chr12_71434798_71591310 | 71563979 | TGTGTATA others(71): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 a0001c0002t0001g0176 |
2 | 200 | 0.0100 | -78 | c.857 others(95): Show |
LGR5 | ENSG00000139292.13 | transcript | ENST00000266674.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49579001 | GGGGAGAG others(71): Show |
G | intron_variant | MODIFIER | HG00733.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0237 a0001c0001t0020g0375 |
2 | 384 | 0.0052 | -78 | c.794 others(95): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LIPJ_chr10_88581762_88611976 | 88598962 | AATATATT others(71): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 410 | 0.0024 | -78 | c.723 others(95): Show |
LIPJ | ENSG00000204022.9 | transcript | ENST00000371939.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961412 | GACACAGA others(71): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0027 | a0004c0027t0001 | a0004c0027t0001g0127 | 1 | 294 | 0.0034 | -78 | c.194 others(95): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11493886 | GGGCAGTG others(71): Show |
G | intron_variant | MODIFIER | NA19060.hp1 | a0232 | a0232c0076 | a0232c0076t0002 | a0232c0076t0002g0135 | 1 | 310 | 0.0032 | -78 | c.143 others(94): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150660143 | CGCCCGGC others(71): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 180 | 0.0056 | -78 | c.592 others(99): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRRC28_chr15_99246481_99395729 | 99281419 | TTACTGTA others(71): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0148 | a0001c0001t0148g0165 | 1 | 332 | 0.0030 | -78 | c.209 others(95): Show |
LRRC28 | ENSG00000168904.15 | transcript | ENST00000301981.8 | protein_coding | 3/9 | chr15 | TogoVar | |||||||
LRRC4C_chr11_40109209_41464652 | 41286587 | AAGATCCT others(71): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG02055.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(15): Show |
18 | 48 | 0.3750 | -78 | c.-49 others(101): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
LRRC56_chr11_532527_559912 | 541871 | AGCACGCT others(71): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0019 | a0019c0024 | a0019c0024t0023 | a0019c0024t0023g0076 | 1 | 387 | 0.0026 | -78 | c.265 others(93): Show |
LRRC56 | ENSG00000161328.11 | transcript | ENST00000270115.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRRC74A_chr14_76821408_76875304 | 76821949 | ACGCCCCG others(71): Show |
A | upstream_gene_variant | MODIFIER | HG03704.hp2 NA18962.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0361 a0003c0003t0001g0379 |
2 | 408 | 0.0049 | -78 | c.-47 others(89): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 4458 | chr14 | TogoVar | |||||||
LRRK1_chr15_100914357_101083257 | 100982051 | TGGGGGCA others(71): Show |
T | intron_variant | MODIFIER | NA19068.hp2 NA19070.hp2 NA19077.hp2 |
a0009a0029 | a0009c0024a0029c0041 | a0009c0024t0148a0009c0024t0149a0029c0041t0020 | a0009c0024t0148g0330 a0009c0024t0149g0329 a0029c0041t0020g0328 |
3 | 338 | 0.0089 | -78 | c.262 others(95): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
LRRTM4_chr2_76742685_77527376 | 76807393 | TATATATG others(71): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0003g0090 others(2): Show |
5 | 128 | 0.0391 | -78 | c.155 others(99): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
LYL1_chr19_13094033_13107858 | 13103492 | GTGACCTT others(71): Show |
G | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -78 | c.-10 others(88): Show |
LYL1 | ENSG00000104903.5 | transcript | ENST00000264824.5 | protein_coding | 635 | chr19 | TogoVar | |||||||
MADCAM1_chr19_491486_510343 | 494785 | ACCCCTGG others(71): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG02015.hp2 HG02056.hp2 others(15): Show |
a0002a0004a0005others(1): Show | a0002c0043a0004c0015a0005c0003others(3): Show | a0002c0043t0001a0004c0015t0001a0005c0003t0001others(4): Show | a0002c0043t0001g0251 a0004c0015t0001g0246 a0005c0003t0001g0252 others(14): Show |
18 | 364 | 0.0495 | -78 | c.-17 others(89): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1700 | chr19 | TogoVar | |||||||
MAP3K13_chr3_185358136_185494094 | 185453958 | GATATATA others(71): Show |
G | intron_variant | MODIFIER | HG00558.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0009 | a0001c0001t0002g0035 a0001c0003t0009g0015 |
2 | 278 | 0.0072 | -78 | c.127 others(97): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAPK9_chr5_180228143_180297083 | 180296877 | ACACAAGG others(71): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00673.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0287 others(8): Show |
11 | 372 | 0.0296 | -78 | c.-51 others(89): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 4795 | chr5 | TogoVar | |||||||
MAPKAP1_chr9_125432394_125712208 | 125624224 | CGCCCGGC others(71): Show |
C | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0204 | 1 | 300 | 0.0033 | -78 | c.498 others(97): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7053530 | TTATATAT others(71): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0042 a0002c0002t0001g0003 |
2 | 258 | 0.0078 | -78 | c.*19 others(89): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 1796 | chr19 | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7054173 | AATATAAT others(71): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG03041.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0022 a0002c0004t0003g0041 a0002c0004t0003g0043 |
4 | 258 | 0.0155 | -78 | c.*25 others(89): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 2439 | chr19 | TogoVar | |||||||
MBD3L2_chr19_7044321_7056735 | 7054468 | ATATTATA others(71): Show |
A | downstream_gene_variant | MODIFIER | NA18983.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 258 | 0.0078 | -78 | c.*28 others(89): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 2734 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7053530 | TTATATAT others(71): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 288 | 0.0035 | -78 | c.*27 others(89): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2676 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7054173 | AATATAAT others(71): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0018 a0002c0002t0003g0043 |
3 | 288 | 0.0104 | -78 | c.*20 others(89): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2033 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7054468 | ATATTATA others(71): Show |
A | downstream_gene_variant | MODIFIER | NA18976.hp2 NA18983.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 288 | 0.0104 | -78 | c.*17 others(89): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1738 | chr19 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94243010 | CACGTGTA others(71): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 276 | 0.0036 | -78 | c.-66 others(97): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94244985 | CACCTGTT others(71): Show |
C | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0157 | 1 | 276 | 0.0036 | -78 | c.-66 others(97): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3572813 | TGTGTGCT others(71): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0012 | a0012c0103 | a0012c0103t0003 | a0012c0103t0003g0222 | 1 | 292 | 0.0034 | -78 | c.481 others(95): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 4/36 | chr1 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090407 | CCCCACAC others(71): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 HG03710.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0002 | a0001c0001t0008g0339 a0001c0003t0002g0009 a0001c0003t0002g0147 others(1): Show |
5 | 399 | 0.0125 | -78 | c.557 others(95): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
METTL27_chr7_73829590_73847516 | 73836551 | CGGCCAGC others(71): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(177): Show |
a0001a0005a0008others(3): Show | a0001c0001a0005c0005a0008c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0066 a0001c0001t0002g0002 a0001c0001t0002g0003 others(97): Show |
180 | 372 | 0.4839 | -78 | c.479 others(95): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar |