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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTFR1L_chr1_25814954_25837938 | 25819429 | T | TGTGTGAG others(27): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 38 | 0.0263 | 34 | c.-68 others(43): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 524 | chr1 | TogoVar | |||||||
MTFR1L_chr1_25814954_25837938 | 25819429 | T | TGTGTGTG others(27): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 38 | 0.0263 | 34 | c.-68 others(43): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 524 | chr1 | TogoVar | |||||||
MTHFD1_chr14_64383353_64465025 | 64429261 | A | AACATATA others(27): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0006a0006c0005others(1): Show | a0001c0001t0002a0005c0006t0001a0006c0005t0001others(1): Show | a0001c0001t0002g0222 a0005c0006t0001g0227 a0006c0005t0001g0034 others(4): Show |
7 | 119 | 0.0588 | 34 | c.126 others(51): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTHFD2L_chr4_74153118_74308099 | 74188682 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 197 | 0.0051 | 34 | c.452 others(53): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTHFD2L_chr4_74153118_74308099 | 74188698 | G | GCATATGT others(27): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(103): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0024 others(102): Show |
106 | 195 | 0.5436 | 34 | c.452 others(53): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTHFD2L_chr4_74153118_74308099 | 74188742 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02572.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0002g0008 others(15): Show |
18 | 137 | 0.1314 | 34 | c.452 others(53): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTM1_chrX_150563621_150678143 | 150583353 | A | AAATATAT others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 190 | 0.0053 | 34 | c.-10 others(51): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MTMR12_chr5_32222007_32317939 | 32228607 | T | TATATATC others(27): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02055.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0096 a0001c0001t0001g0097 others(1): Show |
4 | 223 | 0.0179 | 34 | c.*11 others(45): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 16/16 | 1170 | chr5 | TogoVar | ||||||
MTMR3_chr22_29878174_30035868 | 29896869 | T | TCACACAC others(27): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0298 | 1 | 64 | 0.0156 | 34 | c.-13 others(55): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MTMR7_chr8_17291794_17418351 | 17408395 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 241 | 0.0041 | 34 | c.24+ others(49): Show |
MTMR7 | ENSG00000003987.14 | transcript | ENST00000180173.10 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
MTOR_chr1_11101535_11267551 | 11221706 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 254 | 0.0039 | 34 | c.303 others(53): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 19/57 | chr1 | TogoVar | |||||||
MTPN_chr7_135921760_135982359 | 135941380 | A | ACAATGGG others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(116): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(74): Show |
119 | 378 | 0.3148 | 34 | c.270 others(51): Show |
MTPN | ENSG00000105887.11 | transcript | ENST00000393085.4 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03471.hp2 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0109 a0002c0003t0005g0112 |
2 | 239 | 0.0084 | 34 | c.371 others(51): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(27): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0028 | 1 | 238 | 0.0042 | 34 | c.371 others(51): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(27): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0051 | 1 | 238 | 0.0042 | 34 | c.371 others(51): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(27): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0052 | 1 | 238 | 0.0042 | 34 | c.371 others(51): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(27): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0047 | 1 | 238 | 0.0042 | 34 | c.371 others(51): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897308 | A | ATGCGCGC others(27): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0085 | 1 | 330 | 0.0030 | 34 | c.371 others(51): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | chr1 | TogoVar | |||||||
MTSS1_chr8_124545784_124733473 | 124602188 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02280.hp1 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0001a0002c0002t0007others(1): Show | a0001c0001t0002g0013 a0001c0003t0001g0011 a0001c0003t0001g0016 others(6): Show |
9 | 179 | 0.0503 | 34 | c.209 others(53): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99588984 | T | TATGTTCA others(27): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 others(3): Show |
6 | 359 | 0.0167 | 34 | c.394 others(49): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTURN_chr7_30129986_30167762 | 30140415 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0024 | a0001c0001t0017g0265 a0001c0001t0024g0254 a0001c0001t0024g0255 |
3 | 98 | 0.0306 | 34 | c.162 others(51): Show |
MTURN | ENSG00000180354.16 | transcript | ENST00000324453.13 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MTURN_chr7_30129986_30167762 | 30140415 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 96 | 0.0104 | 34 | c.162 others(51): Show |
MTURN | ENSG00000180354.16 | transcript | ENST00000324453.13 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(27): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0025 | a0001c0025t0006 | a0001c0025t0006g0196 | 1 | 33 | 0.0303 | 34 | c.*40 others(45): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(27): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0025 | a0001c0025t0020 | a0001c0025t0020g0244 | 1 | 33 | 0.0303 | 34 | c.*40 others(45): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | |||||||
MTUS1_chr8_17638802_17806094 | 17767700 | T | TAAGAAAA others(27): Show |
intron_variant | MODIFIER | HG02630.hp1 NA20300.hp1 |
a0006 | a0006c0019a0006c0089 | a0006c0019t0002a0006c0089t0006 | a0006c0019t0002g0185 a0006c0089t0006g0186 |
2 | 205 | 0.0098 | 34 | c.-15 others(55): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 29350960 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 25 | 0.0400 | 34 | c.290 others(53): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29383244 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0017 | 1 | 80 | 0.0125 | 34 | c.311 others(55): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29383250 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | NA19043.hp2 NA20300.hp1 |
a0002a0003 | a0002c0002a0003c0009 | a0002c0002t0004a0003c0009t0029 | a0002c0002t0004g0058 a0003c0009t0029g0005 |
2 | 57 | 0.0351 | 34 | c.311 others(55): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195816500 | C | CTTCTCCT others(27): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG03540.hp2 |
a0016a0070 | a0016c0152a0016c0153a0070c0155 | a0016c0152t0004a0016c0153t0005a0070c0155t0004 | a0016c0152t0004g0241 a0016c0153t0005g0242 a0070c0155t0004g0243 |
3 | 248 | 0.0121 | 34 | c.-46 others(45): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4572 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195816644 | C | CTTCTCCT others(27): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(7): Show |
a0014a0025a0027others(7): Show | a0014c0012a0025c0069a0027c0033others(7): Show | a0014c0012t0002a0025c0069t0001a0027c0033t0002others(7): Show | a0014c0012t0002g0190 a0025c0069t0001g0059 a0027c0033t0002g0189 others(7): Show |
10 | 248 | 0.0403 | 34 | c.-48 others(45): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4716 | chr3 | TogoVar | |||||||
MUC5AC_chr11_1152953_1206138 | 1166590 | C | CTCCCACG others(27): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0029 | a0029c0039 | a0029c0039t0002 | a0029c0039t0002g0045 | 1 | 290 | 0.0034 | 34 | c.138 others(51): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 11/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690128 | G | GTATAAAT others(27): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(38): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0004a0004c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0037 others(38): Show |
41 | 319 | 0.1285 | 34 | c.358 others(51): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690139 | G | GAAATATA others(27): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp2 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0014others(6): Show | a0001c0001t0030a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0030g0092 a0001c0002t0001g0098 a0001c0002t0001g0123 others(53): Show |
57 | 254 | 0.2244 | 34 | c.358 others(51): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110694651 | G | GAAATTAA others(27): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 324 | 0.0031 | 34 | c.359 others(49): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
MUSTN1_chr3_52828121_52840019 | 52832637 | G | GAGGGAGA others(27): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01891.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0006 a0001c0001t0002g0047 a0002c0002t0002g0011 |
7 | 38 | 0.1842 | 34 | c.*68 others(43): Show |
MUSTN1 | ENSG00000272573.6 | transcript | ENST00000446157.3 | protein_coding | 483 | chr3 | TogoVar | |||||||
MVK_chr12_109568794_109603125 | 109600916 | T | TACACACA others(27): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01255.hp2 HG03654.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0017 | a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0031 others(3): Show |
6 | 123 | 0.0488 | 34 | c.*43 others(45): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 2792 | chr12 | TogoVar | |||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 5 | 0.2000 | 34 | c.274 others(51): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3326127 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0126 | 1 | 282 | 0.0035 | 34 | c.710 others(51): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101687208 | T | TGCTATCC others(27): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0018 | 1 | 358 | 0.0028 | 34 | c.*16 others(45): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 1181 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101688636 | T | TGTAATGG others(27): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00621.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0285 a0001c0001t0003g0260 a0001c0001t0007g0112 others(10): Show |
13 | 358 | 0.0363 | 34 | c.*30 others(45): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 2609 | chr12 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01516.hp2 HG01943.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0139 a0001c0001t0001g0159 others(12): Show |
16 | 33 | 0.4848 | 34 | c.655 others(49): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348926 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0075 | 1 | 372 | 0.0027 | 34 | c.655 others(49): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATACA others(27): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 217 | 0.0046 | 34 | c.378 others(51): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01516.hp2 HG03492.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 others(3): Show |
6 | 222 | 0.0270 | 34 | c.378 others(51): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 217 | 0.0046 | 34 | c.378 others(51): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0093 | 1 | 86 | 0.0116 | 34 | c.125 others(51): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBP_chr1_38857493_38878348 | 38866044 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 | 2 | 81 | 0.0247 | 34 | c.267 others(49): Show |
MYCBP | ENSG00000214114.9 | transcript | ENST00000397572.5 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4670512 | T | TGCCGAGG others(27): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG02273.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0142 a0001c0001t0001g0143 others(2): Show |
6 | 382 | 0.0157 | 34 | c.-17 others(43): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 171 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672082 | T | TGTGAATA others(27): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01069.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(18): Show |
27 | 346 | 0.0780 | 34 | c.-17 others(45): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1741 | chr19 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8511071 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 143 | 0.0070 | 34 | c.295 others(53): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 24/42 | chr17 | TogoVar |