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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LINGO1_chr15_77608027_77637912 | 77610944 | AGTCTCTC others(47): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0173 a0001c0003t0006g0174 |
2 | 386 | 0.0052 | -54 | c.*30 others(65): Show |
LINGO1 | ENSG00000169783.13 | transcript | ENST00000355300.7 | protein_coding | 2082 | chr15 | TogoVar | |||||||
LOC101059915_chrX_71662546_71676527 | 71667567 | GCCACGCG others(47): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18968.hp2 | a0009 | a0009c0021 | a0009c0021t0004 | a0009c0021t0004g0013 | 1 | 340 | 0.0029 | -54 | c.-23 others(63): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
LOC112694756_chr16_30048151_30075414 | 30048239 | ATAAATAC others(47): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 332 | 0.0030 | -54 | c.-50 others(65): Show |
LOC112694756 | ENSG00000285043.3 | transcript | ENST00000338110.11 | protein_coding | 4911 | chr16 | TogoVar | |||||||
LOC127933115_chrX_23778278_23788367 | 23780106 | TATATACG others(47): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 334 | 0.0060 | -54 | c.-31 others(65): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3171 | chrX | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1513648 | GTTTCCTC others(47): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0007a0001c0003t0009 | a0001c0001t0004g0105 a0001c0001t0007g0270 a0001c0003t0009g0238 others(1): Show |
4 | 386 | 0.0104 | -54 | c.135 others(73): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188784466 | CATATATA others(47): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0015 | a0002c0015t0037 | a0002c0015t0037g0051 | 1 | 76 | 0.0132 | -54 | c.141 others(75): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150639753 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | NA18939.hp2 NA18950.hp1 NA21309.hp2 |
a0001a0024 | a0001c0001a0001c0005a0024c0030 | a0001c0001t0004a0001c0005t0001a0024c0030t0001 | a0001c0001t0004g0025 a0001c0005t0001g0158 a0024c0030t0001g0017 |
3 | 180 | 0.0167 | -54 | c.592 others(75): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRFN5_chr14_41601876_41909549 | 41764786 | GTGCAGAA others(47): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0276 a0001c0001t0006g0278 a0001c0001t0013g0279 |
3 | 280 | 0.0107 | -54 | c.-19 others(73): Show |
LRFN5 | ENSG00000165379.14 | transcript | ENST00000298119.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRP1B_chr2_140226423_142136016 | 141381938 | TGGAAATT others(47): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02922.hp2 |
a0001 | a0001c0008a0001c0026 | a0001c0008t0001a0001c0026t0001 | a0001c0008t0001g0008 a0001c0026t0001g0025 |
2 | 28 | 0.0714 | -54 | c.343 others(73): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 3/90 | chr2 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132352412 | CGAGGCCT others(47): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01070.hp2 others(8): Show |
a0002 | a0002c0004 | a0002c0004t0010a0002c0004t0011a0002c0004t0016others(1): Show | a0002c0004t0010g0011 a0002c0004t0010g0013 a0002c0004t0010g0014 others(8): Show |
11 | 290 | 0.0379 | -54 | c.107 others(71): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132356351 | GCCAAGAT others(47): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 others(5): Show |
8 | 290 | 0.0276 | -54 | c.117 others(71): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132356401 | ATCCCCCA others(47): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00735.hp2 others(70): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0023others(20): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(69): Show |
73 | 290 | 0.2517 | -54 | c.117 others(71): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69717824 | AAGAAAGA others(47): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0017 | a0001c0017t0052 | a0001c0017t0052g0017 | 1 | 108 | 0.0093 | -54 | c.100 others(73): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC9_chr14_59915144_60071817 | 59975097 | ATATACAT others(47): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00639.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(15): Show |
18 | 322 | 0.0559 | -54 | c.163 others(71): Show |
LRRC9 | ENSG00000131951.12 | transcript | ENST00000570145.2 | protein_coding | 13/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LSG1_chr3_194635791_194677191 | 194645535 | GACACACA others(47): Show |
G | intron_variant | MODIFIER | NA18969.hp2 NA18995.hp1 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0320 a0002c0002t0009g0324 a0002c0002t0009g0325 |
3 | 408 | 0.0074 | -54 | c.162 others(71): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
LTBP2_chr14_74493183_74617237 | 74564189 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0012 | a0012c0057 | a0012c0057t0003 | a0012c0057t0003g0272 | 1 | 282 | 0.0036 | -54 | c.831 others(71): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24566901 | TGTTATAT others(47): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00621.hp1 others(111): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0016 others(111): Show |
114 | 116 | 0.9828 | -54 | c.62+ others(71): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24741910 | TAATATAT others(47): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0033 | 1 | 116 | 0.0086 | -54 | c.333 others(71): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MAB21L4_chr2_240881048_240901156 | 240892569 | GCCGTTTC others(47): Show |
G | intron_variant | MODIFIER | HG02132.hp2 NA18971.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0033 | 2 | 446 | 0.0045 | -54 | c.515 others(69): Show |
MAB21L4 | ENSG00000172478.18 | transcript | ENST00000388934.5 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
MAFA_chr8_143423064_143435732 | 143425124 | GCAGGAGA others(47): Show |
G | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | -54 | c.*41 others(65): Show |
MAFA | ENSG00000182759.4 | transcript | ENST00000333480.3 | protein_coding | 2939 | chr8 | TogoVar | |||||||
MAGEB10_chrX_27802990_27828014 | 27809476 | CCCGCCGG others(47): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 | 1 | 250 | 0.0040 | -54 | c.-19 others(73): Show |
MAGEB10 | ENSG00000177689.10 | transcript | ENST00000356790.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAGI1_chr3_65348526_66043918 | 65538953 | TAACTACC others(47): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02040.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0042 others(4): Show |
7 | 104 | 0.0673 | -54 | c.431 others(73): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79324619 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0006t0001others(2): Show | a0001c0002t0001g0009 a0001c0004t0001g0018 a0001c0006t0001g0038 others(2): Show |
5 | 40 | 0.1250 | -54 | c.301 others(75): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79324643 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0037 | 1 | 40 | 0.0250 | -54 | c.301 others(75): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19171994 | TATATATC others(47): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01256.hp2 HG02055.hp1 |
a0001a0039a0041 | a0001c0052a0039c0109a0041c0053 | a0001c0052t0001a0039c0109t0002a0041c0053t0001 | a0001c0052t0001g0116 a0039c0109t0002g0077 a0041c0053t0001g0117 |
3 | 152 | 0.0197 | -54 | c.183 others(73): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAP3K12_chr12_53474669_53504458 | 53498908 | CTGTGTGT others(47): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0030 others(33): Show |
39 | 328 | 0.1189 | -54 | c.-38 others(69): Show |
MAP3K12 | ENSG00000139625.13 | transcript | ENST00000547488.6 | protein_coding | 1/13 | chr12 | TogoVar | |||||||
MAP3K13_chr3_185358136_185494094 | 185453982 | GATATATA others(47): Show |
G | intron_variant | MODIFIER | HG02132.hp2 HG03540.hp1 NA18991.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0003t0009 | a0001c0001t0002g0025 a0001c0001t0005g0027 a0001c0003t0009g0261 |
3 | 278 | 0.0108 | -54 | c.127 others(73): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185454584 | TGATATAT others(47): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0016 | a0001c0016t0059 | a0001c0016t0059g0052 | 1 | 278 | 0.0036 | -54 | c.127 others(73): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAPKAP1_chr9_125432394_125712208 | 125693676 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0144 |
2 | 300 | 0.0067 | -54 | c.-70 others(73): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
MARCHF6_chr5_10348695_10445388 | 10435623 | CTATATAA others(47): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0153 | a0001c0001t0153g0227 | 1 | 284 | 0.0035 | -54 | c.*19 others(65): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1946 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MBTD1_chr17_51172425_51265049 | 51197041 | GATATATA others(47): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(56): Show | a0001c0001t0006g0002 a0001c0001t0006g0070 a0001c0001t0006g0072 others(103): Show |
108 | 340 | 0.3177 | -54 | c.122 others(73): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 12/16 | chr17 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113025098 | GGGTCCCT others(47): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01993.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0006t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0030 others(7): Show |
10 | 116 | 0.0862 | -54 | c.278 others(69): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113025359 | GTCATGGT others(47): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 116 | 0.0086 | -54 | c.278 others(69): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113026070 | CGGTCCCC others(47): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 116 | 0.0086 | -54 | c.278 others(71): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113033345 | TAGTGGAC others(47): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0072 | 1 | 116 | 0.0086 | -54 | c.278 others(71): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2_chrX_139576770_139713167 | 139709428 | CATAGTAT others(47): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01109.hp1 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 others(59): Show |
65 | 249 | 0.2610 | -54 | c.-14 others(65): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 1262 | chrX | TogoVar | |||||||
MCRS1_chr12_49553299_49573142 | 49564156 | CCCGCCCA others(47): Show |
C | intron_variant | MODIFIER | NA19056.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 2 | 308 | 0.0065 | -54 | c.557 others(69): Show |
MCRS1 | ENSG00000187778.14 | transcript | ENST00000343810.9 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37698156 | TTCTCTTT others(47): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 HG03225.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0068a0001c0006t0069 | a0001c0003t0068g0077 a0001c0006t0069g0078 |
2 | 402 | 0.0050 | -54 | c.-13 others(65): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 274 | chr6 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169191700 | AAAAGAAA others(47): Show |
A | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096 | 1 | 160 | 0.0063 | -54 | c.376 others(73): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169485933 | GTATATAT others(47): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0016 | 1 | 160 | 0.0063 | -54 | c.38- others(73): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151293584 | CACACACA others(47): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02735.hp1 HG03669.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0022a0002c0003 | a0001c0001t0004a0001c0001t0013a0001c0022t0003others(3): Show | a0001c0001t0004g0172 a0001c0001t0013g0121 a0001c0022t0003g0208 others(3): Show |
6 | 280 | 0.0214 | -54 | c.225 others(75): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED16_chr19_862963_898187 | 872931 | AGGAGGGC others(47): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 56 | 0.0179 | -54 | c.190 others(71): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | TogoVar | |||||||
MED16_chr19_862963_898187 | 873077 | GAGGGCTC others(47): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0048 | 1 | 56 | 0.0179 | -54 | c.190 others(71): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583288 | ACAGCCAC others(47): Show |
A | intron_variant | MODIFIER | HG03471.hp1 HG03540.hp2 |
a0030a0086 | a0030c0024a0086c0099 | a0030c0024t0063a0086c0099t0007 | a0030c0024t0063g0266 a0086c0099t0007g0229 |
2 | 292 | 0.0069 | -54 | c.377 others(71): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3585948 | AGGACGCA others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 HG03225.hp2 others(4): Show |
a0009a0015a0021others(4): Show | a0009c0114a0015c0013a0021c0026others(4): Show | a0009c0114t0023a0015c0013t0020a0021c0026t0030others(4): Show | a0009c0114t0023g0003 a0015c0013t0020g0289 a0021c0026t0030g0267 others(4): Show |
7 | 292 | 0.0240 | -54 | c.377 others(71): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEIKIN_chr5_131801990_131950663 | 131849356 | GAACCTCT others(47): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0054 others(65): Show |
69 | 346 | 0.1994 | -54 | c.975 others(71): Show |
MEIKIN | ENSG00000239642.6 | transcript | ENST00000442687.6 | protein_coding | 11/12 | chr5 | TogoVar | |||||||
MESP1_chr15_89744875_89756249 | 89746347 | ACATCCAC others(47): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
a0002 | a0002c0011a0002c0012 | a0002c0011t0002a0002c0012t0002 | a0002c0011t0002g0024 a0002c0012t0002g0014 |
6 | 428 | 0.0140 | -54 | c.*37 others(65): Show |
MESP1 | ENSG00000166823.6 | transcript | ENST00000300057.5 | protein_coding | 3527 | chr15 | TogoVar | |||||||
MFGE8_chr15_88893683_88918379 | 88915872 | GTGTATAT others(47): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0103 | 1 | 436 | 0.0023 | -54 | c.-26 others(65): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 2494 | chr15 | TogoVar | |||||||
MGAM_chr7_141990879_142111747 | 142042566 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00609.hp1 others(101): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0005others(41): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(41): Show | a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0130 others(100): Show |
104 | 316 | 0.3291 | -54 | c.249 others(73): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MIB2_chr1_1610500_1635605 | 1628107 | ACATCGAT others(47): Show |
A | conservative_inframe_deletion | MODERATE | HG01255.hp2 | a0006 | a0006c0041 | a0006c0041t0002 | a0006c0041t0002g0121 | 1 | 412 | 0.0024 | -54 | c.177 others(63): Show |
p.Ile others(13): Show |
MIB2 | ENSG00000197530.13 | transcript | ENST00000355826.10 | protein_coding | 14/20 | 2034/3206 | 1771/2868 | 591/955 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |