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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2B2_chr3_10319023_10510586 | 10365830 | T | TATGTGCA others(1012): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0174 | 1 | 124 | 0.0081 | 1019 | c.166 others(1038): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 12/22 | chr3 | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197517781 | T | TCAGTCAC others(1012): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019 | a0001c0001t0018g0212 a0001c0001t0019g0213 |
2 | 285 | 0.0070 | 1019 | c.410 others(1036): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(1012): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 266 | 0.0038 | 1019 | c.300 others(1036): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882522 | G | GGGGAGAA others(1012): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0102 | 1 | 230 | 0.0043 | 1019 | c.303 others(1038): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1012): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01168.hp2 HG01169.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0019 a0002c0001t0001g0120 a0002c0001t0001g0137 |
4 | 179 | 0.0223 | 1019 | c.373 others(1036): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114199743 | G | GTGCTTAC others(1012): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 394 | 0.0025 | 1019 | c.172 others(1034): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500995 | G | GGTGTGTT others(1012): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03225.hp2 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0016 | a0001c0003t0001g0041 a0001c0003t0001g0179 a0001c0003t0016g0185 |
3 | 239 | 0.0126 | 1019 | c.268 others(1038): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501001 | T | TTGGGTGT others(1012): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0192 | 1 | 290 | 0.0034 | 1019 | c.268 others(1038): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647263 | C | CCCTCCTC others(1012): Show |
downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 254 | 0.0039 | 1019 | c.*51 others(1030): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1919 | chr15 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478090 | A | AAGAGAGG others(1012): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 86 | 0.0116 | 1019 | c.158 others(1036): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1012): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0142 | 1 | 108 | 0.0093 | 1019 | c.441 others(1038): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1012): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0139 | 1 | 120 | 0.0083 | 1019 | c.446 others(1038): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1012): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0032 | 1 | 289 | 0.0035 | 1019 | c.-49 others(1030): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1012): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 137 | 0.0073 | 1019 | c.-14 others(1038): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586196 | C | CAAAGGTG others(1012): Show |
splice_region_variant others(1): Show |
LOW | HG02572.hp2 | a0012 | a0012c0014 | a0012c0014t0005 | a0012c0014t0005g0234 | 1 | 303 | 0.0033 | 1019 | c.157 others(1032): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1012): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01168.hp2 HG01169.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 a0002c0002t0001g0022 |
4 | 212 | 0.0189 | 1019 | c.*50 others(1030): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 309871 | T | TGAAATGA others(1012): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0070 | 1 | 120 | 0.0083 | 1019 | c.112 others(1038): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1012): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0182 | 1 | 132 | 0.0076 | 1019 | c.94- others(1032): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1012): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 132 | 0.0076 | 1019 | c.94- others(1032): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1012): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 132 | 0.0076 | 1019 | c.94- others(1032): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294662 | A | ACTTATCC others(1012): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 374 | 0.0027 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294662 | A | ACTTATCC others(1012): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0164 |
2 | 375 | 0.0053 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294662 | A | ACTTATCC others(1012): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 374 | 0.0027 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1012): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 283 | 0.0035 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1012): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00642.hp1 others(37): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(34): Show |
40 | 322 | 0.1242 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1012): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0171 |
2 | 284 | 0.0070 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1012): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 283 | 0.0035 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1012): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(70): Show |
a0001a0007a0009 | a0001c0001a0007c0013a0009c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(63): Show |
73 | 135 | 0.5407 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1012): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 |
3 | 65 | 0.0462 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1012): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18953.hp1 NA18960.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0017 | a0001c0001t0001g0028 a0001c0001t0001g0125 a0001c0001t0001g0276 others(6): Show |
10 | 72 | 0.1389 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1012): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0097 a0001c0001t0001g0158 others(5): Show |
8 | 70 | 0.1143 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294670 | A | ACTTATCC others(1012): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02647.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0147 a0001c0001t0001g0162 |
3 | 385 | 0.0078 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294671 | T | TCCACTTA others(1012): Show |
intron_variant | MODIFIER | HG02451.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0188 a0002c0002t0001g0069 |
2 | 379 | 0.0053 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294678 | A | ACTTATCC others(1012): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0061 | 1 | 386 | 0.0026 | 1019 | c.105 others(1036): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1012): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0259 | 1 | 5 | 0.2000 | 1019 | c.-41 others(1034): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(1012): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0057 | 1 | 283 | 0.0035 | 1019 | c.141 others(1036): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949221 | G | GCGGCCTC others(1012): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 93 | 0.0108 | 1019 | c.360 others(1038): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(1012): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0013 | 1 | 16 | 0.0625 | 1019 | c.234 others(1034): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(1012): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 118 | 0.0085 | 1019 | c.*35 others(1030): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1012): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0148 | 1 | 67 | 0.0149 | 1019 | c.306 others(1038): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGA others(1012): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0251 | 1 | 235 | 0.0043 | 1019 | c.126 others(1038): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(1012): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0014 | 1 | 283 | 0.0035 | 1019 | c.115 others(1036): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(1012): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0168 | 1 | 94 | 0.0106 | 1019 | c.206 others(1038): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SPATA3_chr2_230991121_231013040 | 231005580 | T | TCATCACC others(1012): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0070 | 1 | 271 | 0.0037 | 1019 | c.*11 others(1038): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1012): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 1019 | c.*64 others(1030): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GATGGTGG others(1012): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0016 | a0016c0099 | a0016c0099t0188 | a0016c0099t0188g0005 | 1 | 90 | 0.0111 | 1019 | c.272 others(1038): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377340 | C | CCCCTGTG others(1012): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 168 | 0.0060 | 1019 | c.-13 others(1030): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1315 | chr19 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311890 | G | GTGTGCAG others(1012): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 310 | 0.0032 | 1019 | c.327 others(1036): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311890 | G | GTGTGCAG others(1012): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 310 | 0.0032 | 1019 | c.327 others(1036): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311890 | G | GTGTGCAG others(1012): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02055.hp2 HG02129.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0022 others(19): Show |
24 | 333 | 0.0721 | 1019 | c.327 others(1036): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar |