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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(984): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 83 | 0.0120 | 991 | c.392 others(1008): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATATATTT others(985): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0202 | 1 | 160 | 0.0063 | 992 | c.130 others(1011): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATATATTT others(985): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0290 | 1 | 160 | 0.0063 | 992 | c.130 others(1011): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(985): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0005 | a0002c0005t0095 | a0002c0005t0095g0254 | 1 | 204 | 0.0049 | 992 | c.106 others(1011): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 328 | 0.0030 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0277 | 1 | 328 | 0.0030 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp1 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0375 a0001c0001t0004g0264 a0001c0001t0006g0109 others(1): Show |
4 | 331 | 0.0121 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 328 | 0.0030 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0131 a0001c0001t0009g0366 |
2 | 329 | 0.0061 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 165 | 0.0061 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 165 | 0.0061 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 165 | 0.0061 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0026 others(1): Show |
4 | 168 | 0.0238 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 165 | 0.0061 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 165 | 0.0061 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(51): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0111 others(46): Show |
54 | 218 | 0.2477 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 165 | 0.0061 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 | 1 | 165 | 0.0061 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(985): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01975.hp2 HG02109.hp2 others(8): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0004a0001c0001t0006a0006c0012t0004 | a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0169 others(8): Show |
11 | 20 | 0.5500 | 992 | c.327 others(1009): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(985): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02818.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0157 others(3): Show |
6 | 15 | 0.4000 | 992 | c.327 others(1009): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331550 | G | GGAAGGGA others(985): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 a0001c0001t0002g0209 |
2 | 317 | 0.0063 | 992 | c.327 others(1009): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(985): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 235 | 0.0043 | 992 | c.-22 others(1003): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185766 | C | CATAGGGC others(985): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0035 | a0035c0101 | a0035c0101t0008 | a0035c0101t0008g0261 | 1 | 294 | 0.0034 | 992 | c.300 others(1009): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(985): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0130 | 1 | 211 | 0.0047 | 992 | c.342 others(1013): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(985): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0127 | 1 | 143 | 0.0070 | 992 | c.294 others(1009): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(985): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 a0001c0001t0001g0199 |
2 | 275 | 0.0073 | 992 | c.51+ others(1007): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(985): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 353 | 0.0028 | 992 | c.51+ others(1007): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516477 | A | AGGGGGTA others(985): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 86 | 0.0116 | 992 | c.86- others(1009): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(985): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0082 | a0082c0098 | a0082c0098t0001 | a0082c0098t0001g0104 | 1 | 214 | 0.0047 | 992 | c.118 others(1011): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(985): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 2 | 182 | 0.0110 | 992 | c.*14 others(1003): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(985): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0166 | 1 | 276 | 0.0036 | 992 | c.228 others(1009): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706323 | T | TAGATAGA others(985): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0235 | 1 | 286 | 0.0035 | 992 | c.228 others(1009): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(985): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0006 | a0006c0033 | a0006c0033t0005 | a0006c0033t0005g0199 | 1 | 353 | 0.0028 | 992 | c.-50 others(1003): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706323 | T | TAGATAGA others(985): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073 | 1 | 363 | 0.0028 | 992 | c.-50 others(1003): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4877 | chr4 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(985): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01515.hp2 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0168 a0001c0001t0001g0210 a0001c0001t0003g0208 others(1): Show |
4 | 99 | 0.0404 | 992 | c.119 others(1011): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(985): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 234 | 0.0043 | 992 | c.-42 others(1003): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(985): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 10 | 0.1000 | 992 | c.180 others(1011): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68892196 | T | TGGGGTCA others(985): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 12 | 0.0833 | 992 | c.553 others(1007): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(985): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0045 | a0045c0070 | a0045c0070t0001 | a0045c0070t0001g0282 | 1 | 24 | 0.0417 | 992 | c.371 others(1009): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(985): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0008 | a0001c0008t0057 | a0001c0008t0057g0116 | 1 | 42 | 0.0238 | 992 | c.916 others(1009): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(985): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0050 | 1 | 192 | 0.0052 | 992 | c.89- others(1005): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 224 | 0.0045 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 224 | 0.0045 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 224 | 0.0045 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01496.hp2 HG01943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0222 a0001c0001t0004g0002 a0001c0001t0004g0217 |
6 | 229 | 0.0262 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 224 | 0.0045 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02083.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0228 a0001c0001t0002g0303 a0001c0004t0002g0025 |
4 | 227 | 0.0176 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 | 1 | 224 | 0.0045 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0008 a0001c0001t0002g0063 a0002c0003t0002g0052 |
4 | 227 | 0.0176 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 224 | 0.0045 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar |