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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MALRD1_chr10_19043801_19739478 | 19175463 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0012 | a0012c0062 | a0012c0062t0001 | a0012c0062t0001g0111 | 1 | 152 | 0.0066 | 30 | c.195 others(47): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19176366 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG03139.hp1 others(3): Show |
a0031a0048a0075others(3): Show | a0031c0085a0048c0042a0075c0084others(3): Show | a0031c0085t0001a0048c0042t0001a0075c0084t0001others(3): Show | a0031c0085t0001g0052 a0048c0042t0001g0023 a0075c0084t0001g0044 others(3): Show |
6 | 152 | 0.0395 | 30 | c.195 others(49): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 14/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238208 | T | TATGTAAT others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0060 | a0060c0055 | a0060c0055t0001 | a0060c0055t0001g0108 | 1 | 152 | 0.0066 | 30 | c.299 others(51): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238522 | A | ATATAATA others(23): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0072 | a0072c0088 | a0072c0088t0001 | a0072c0088t0001g0013 | 1 | 152 | 0.0066 | 30 | c.299 others(51): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19341442 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0091 | a0091c0100 | a0091c0100t0001 | a0091c0100t0001g0143 | 1 | 152 | 0.0066 | 30 | c.390 others(49): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 24/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19530382 | T | TATAATAT others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01109.hp1 others(23): Show |
a0003a0007a0010others(14): Show | a0003c0020a0003c0027a0003c0039others(19): Show | a0003c0020t0001a0003c0020t0002a0003c0027t0001others(21): Show | a0003c0020t0001g0053 a0003c0020t0002g0086 a0003c0027t0001g0060 others(23): Show |
26 | 152 | 0.1711 | 30 | c.532 others(47): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 31/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19692867 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03098.hp2 |
a0017a0073 | a0017c0017a0073c0044 | a0017c0017t0001a0073c0044t0002 | a0017c0017t0001g0137 a0073c0044t0002g0084 |
2 | 152 | 0.0132 | 30 | c.631 others(47): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALT1_chr18_58666465_58759477 | 58749124 | C | CTAATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0003 | 1 | 406 | 0.0025 | 30 | c.*12 others(41): Show |
MALT1 | ENSG00000172175.16 | transcript | ENST00000649217.2 | protein_coding | 17/17 | 1317 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MAMDC2_chr9_70038848_70231972 | 70158806 | C | CTACACAC others(23): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0148 | 1 | 340 | 0.0029 | 30 | c.140 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | chr9 | TogoVar | |||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02083.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0105 others(1): Show |
4 | 340 | 0.0118 | 30 | c.191 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18946.hp2 NA18961.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0257 a0001c0001t0001g0326 others(1): Show |
4 | 340 | 0.0118 | 30 | c.191 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 340 | 0.0029 | 30 | c.191 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0232 |
2 | 340 | 0.0059 | 30 | c.191 others(49): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96121780 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01169.hp2 HG01257.hp1 |
a0001a0007a0008 | a0001c0002a0007c0014a0008c0015 | a0001c0002t0001a0007c0014t0010a0008c0015t0002 | a0001c0002t0001g0147 a0007c0014t0010g0030 a0008c0015t0002g0047 |
3 | 230 | 0.0130 | 30 | c.514 others(49): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96299060 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0186 | 1 | 230 | 0.0044 | 30 | c.513 others(49): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139781508 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG04199.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0052 a0001c0001t0039g0116 |
2 | 152 | 0.0132 | 30 | c.208 others(51): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
MAMLD1_chrX_150358317_150519173 | 150403960 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 a0001c0001t0002g0160 |
2 | 226 | 0.0089 | 30 | c.-64 others(49): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150403964 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 226 | 0.0044 | 30 | c.-64 others(49): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150403968 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0109 a0002c0002t0002g0022 |
2 | 226 | 0.0089 | 30 | c.-64 others(49): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117386725 | T | TCCCTGTC others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(130): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0012a0001c0001t0016a0001c0001t0017others(100): Show | a0001c0001t0012g0047 a0001c0001t0012g0049 a0001c0001t0012g0050 others(130): Show |
133 | 370 | 0.3595 | 30 | c.303 others(49): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117417534 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00741.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0137 | a0001c0001t0050g0092 a0001c0001t0137g0103 |
2 | 370 | 0.0054 | 30 | c.774 others(47): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117431194 | A | AGGGAGGG others(23): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0118 | 1 | 370 | 0.0027 | 30 | c.855 others(49): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117526880 | C | CTCTCTCT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0168 | a0001c0001t0168g0243 | 1 | 370 | 0.0027 | 30 | c.*39 others(41): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 13/13 | 3925 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117526880 | C | CTCTCTCT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0176 | a0001c0004t0176g0228 | 1 | 370 | 0.0027 | 30 | c.*39 others(41): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 13/13 | 3925 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1C1_chr1_25611791_25789450 | 25644518 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0231 | 1 | 250 | 0.0040 | 30 | c.540 others(49): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1C1_chr1_25611791_25789450 | 25644518 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 250 | 0.0040 | 30 | c.540 others(49): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1C1_chr1_25611791_25789450 | 25656095 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0229 | 1 | 250 | 0.0040 | 30 | c.541 others(49): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN2A1_chr5_109684927_109874625 | 109708509 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01981.hp1 HG02074.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009 | a0002c0002t0002g0178 a0002c0002t0002g0229 a0002c0002t0002g0241 others(5): Show |
8 | 296 | 0.0270 | 30 | c.136 others(47): Show |
MAN2A1 | ENSG00000112893.10 | transcript | ENST00000261483.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAN2A1_chr5_109684927_109874625 | 109817172 | A | ATATATGT others(23): Show |
intron_variant | MODIFIER | HG01192.hp1 HG04228.hp2 |
a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0214 a0001c0004t0013g0282 |
2 | 296 | 0.0068 | 30 | c.194 others(45): Show |
MAN2A1 | ENSG00000112893.10 | transcript | ENST00000261483.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579289 | T | TCACCACC others(23): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0033 | a0002c0033t0013 | a0002c0033t0013g0136 | 1 | 362 | 0.0028 | 30 | c.391 others(45): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579307 | C | CCACCACC others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0025 | 1 | 362 | 0.0028 | 30 | c.391 others(45): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MANBA_chr4_102625770_102765968 | 102625838 | A | AATTTTAT others(23): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 HG03516.hp1 |
a0003 | a0003c0005 | a0003c0005t0021 | a0003c0005t0021g0251 a0003c0005t0021g0252 |
2 | 280 | 0.0071 | 30 | c.*62 others(41): Show |
MANBA | ENSG00000109323.11 | transcript | ENST00000647097.2 | protein_coding | 4931 | chr4 | TogoVar | |||||||
MANBA_chr4_102625770_102765968 | 102747158 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG03471.hp1 |
a0001a0009 | a0001c0004a0001c0009a0009c0011 | a0001c0004t0012a0001c0009t0034a0009c0011t0029 | a0001c0004t0012g0253 a0001c0009t0034g0016 a0009c0011t0029g0018 |
3 | 280 | 0.0107 | 30 | c.177 others(49): Show |
MANBA | ENSG00000109323.11 | transcript | ENST00000647097.2 | protein_coding | 1/16 | chr4 | TogoVar | |||||||
MAOA_chrX_43651299_43751817 | 43655100 | C | CACCGGCA others(23): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(8): Show | a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0247 others(102): Show |
109 | 283 | 0.3852 | 30 | c.-12 others(41): Show |
MAOA | ENSG00000189221.11 | transcript | ENST00000338702.4 | protein_coding | 1198 | chrX | TogoVar | |||||||
MAOA_chrX_43651299_43751817 | 43655140 | G | GGCACCAG others(23): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 HG03704.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0168 a0001c0002t0002g0172 a0001c0002t0006g0165 |
3 | 283 | 0.0106 | 30 | c.-12 others(41): Show |
MAOA | ENSG00000189221.11 | transcript | ENST00000338702.4 | protein_coding | 1158 | chrX | TogoVar | |||||||
MAOA_chrX_43651299_43751817 | 43655177 | G | GTACCCGC others(23): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0243 a0001c0003t0002g0238 |
2 | 283 | 0.0071 | 30 | c.-11 others(41): Show |
MAOA | ENSG00000189221.11 | transcript | ENST00000338702.4 | protein_coding | 1121 | chrX | TogoVar | |||||||
MAP1LC3B2_chr12_116554381_116581606 | 116560228 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0037 a0002c0002t0016g0038 |
2 | 446 | 0.0045 | 30 | c.-10 others(47): Show |
MAP1LC3B2 | ENSG00000258102.5 | transcript | ENST00000556529.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66416181 | T | TAGGGAGT others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 372 | 0.0027 | 30 | c.81- others(47): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66420721 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 372 | 0.0027 | 30 | c.81- others(47): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66420721 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0359 | 1 | 372 | 0.0027 | 30 | c.81- others(47): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66420721 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 a0001c0001t0001g0370 |
2 | 372 | 0.0054 | 30 | c.81- others(47): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66420721 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 372 | 0.0027 | 30 | c.81- others(47): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66420779 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 372 | 0.0027 | 30 | c.81- others(47): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66469693 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02258.hp1 NA18941.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0133 others(1): Show |
4 | 372 | 0.0108 | 30 | c.569 others(49): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66469723 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0060 a0001c0001t0005g0158 |
2 | 372 | 0.0054 | 30 | c.569 others(49): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K2_chr19_4085321_4129122 | 4085812 | A | ATAATGGC others(23): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0080 | 1 | 330 | 0.0030 | 30 | c.*47 others(41): Show |
MAP2K2 | ENSG00000126934.15 | transcript | ENST00000262948.10 | protein_coding | 4508 | chr19 | TogoVar | |||||||
MAP2K2_chr19_4085321_4129122 | 4085812 | A | ATATTGGC others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(257): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0044 others(244): Show |
260 | 330 | 0.7879 | 30 | c.*47 others(41): Show |
MAP2K2 | ENSG00000126934.15 | transcript | ENST00000262948.10 | protein_coding | 4508 | chr19 | TogoVar | |||||||
MAP2K2_chr19_4085321_4129122 | 4085833 | C | CGTCTCCT others(23): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 330 | 0.0030 | 30 | c.*47 others(41): Show |
MAP2K2 | ENSG00000126934.15 | transcript | ENST00000262948.10 | protein_coding | 4487 | chr19 | TogoVar | |||||||
MAP2K2_chr19_4085321_4129122 | 4122277 | G | GACCCTCC others(23): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02165.hp2 NA18943.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0002t0001a0002c0008t0001 | a0001c0001t0002g0223 a0001c0002t0001g0195 a0001c0002t0001g0205 others(5): Show |
8 | 330 | 0.0242 | 30 | c.92+ others(45): Show |
MAP2K2 | ENSG00000126934.15 | transcript | ENST00000262948.10 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
MAP2K2_chr19_4085321_4129122 | 4122333 | T | TAGGGACC others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01070.hp1 others(14): Show |
a0001a0005 | a0001c0005a0001c0006a0001c0018others(1): Show | a0001c0005t0001a0001c0005t0003a0001c0006t0001others(2): Show | a0001c0005t0001g0146 a0001c0005t0003g0001 a0001c0005t0003g0075 others(11): Show |
17 | 330 | 0.0515 | 30 | c.92+ others(45): Show |
MAP2K2 | ENSG00000126934.15 | transcript | ENST00000262948.10 | protein_coding | 1/10 | chr19 | TogoVar |