regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP19_chr10_97217179_97297637 | 97251696 | G | GAGGGAGG others(954): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 242 | 0.0041 | 961 | c.927 others(978): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147569 | C | CCTCACCT others(954): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0031 | 1 | 150 | 0.0067 | 961 | c.276 others(980): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(954): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 391 | 0.0026 | 961 | c.*36 others(972): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(954): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0115 | 1 | 236 | 0.0042 | 961 | c.294 others(978): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(954): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0114 | 1 | 236 | 0.0042 | 961 | c.294 others(978): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACGTCCC others(954): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212a0001c0001t0003g0213 | 2 | 236 | 0.0085 | 961 | c.294 others(978): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88712912 | C | CCCTGAGA others(954): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0187 | 1 | 418 | 0.0024 | 961 | c.737 others(973): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(954): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG03041.hp2 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0156a0001c0004t0006g0158 | 2 | 244 | 0.0082 | 961 | c.*23 others(972): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(954): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0157 | 1 | 244 | 0.0041 | 961 | c.*23 others(972): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(954): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0092 | 1 | 204 | 0.0049 | 961 | c.240 others(980): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(954): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 | 2 | 308 | 0.0065 | 961 | c.-43 others(972): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(954): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 | 1 | 308 | 0.0033 | 961 | c.-43 others(972): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(954): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 294 | 0.0034 | 961 | c.153 others(980): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(954): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0272 | 1 | 294 | 0.0034 | 961 | c.153 others(980): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(954): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0007 | 1 | 294 | 0.0034 | 961 | c.153 others(980): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(954): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 294 | 0.0034 | 961 | c.153 others(980): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859153 | C | CAGTGGTG others(954): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0025 | a0004c0025t0007 | a0004c0025t0007g0294 | 1 | 294 | 0.0034 | 961 | c.153 others(980): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364601 | C | CACCCACA others(954): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0085 | 1 | 290 | 0.0035 | 961 | c.129 others(978): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351506 | C | CTCCTCTC others(954): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0054 | 1 | 318 | 0.0031 | 961 | c.-49 others(972): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4802 | chr11 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543634 | G | GGACAGTG others(954): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0018 | a0018c0021 | a0018c0021t0002 | a0018c0021t0002g0255 | 1 | 286 | 0.0035 | 961 | c.153 others(978): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(954): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0099 | 1 | 272 | 0.0037 | 961 | c.250 others(976): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(954): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 272 | 0.0037 | 961 | c.250 others(976): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767566 | T | TGCGTGGA others(954): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0038 | 1 | 388 | 0.0026 | 961 | c.159 others(978): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(954): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0194 | 1 | 324 | 0.0031 | 961 | c.141 others(978): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712912 | C | CCCTGAGA others(954): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0005 | a0003c0005t0010 | a0003c0005t0010g0002 | 1 | 282 | 0.0036 | 961 | c.*26 others(972): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2425 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(954): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 308 | 0.0033 | 961 | c.371 others(978): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(954): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0014 | a0014c0083 | a0014c0083t0001 | a0014c0083t0001g0289 | 1 | 308 | 0.0033 | 961 | c.371 others(978): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(954): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0115 | 1 | 308 | 0.0033 | 961 | c.371 others(978): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(954): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019 | 1 | 160 | 0.0063 | 961 | c.389 others(982): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(954): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 | 1 | 160 | 0.0063 | 961 | c.389 others(982): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(954): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0062 | a0001c0062t0053 | a0001c0062t0053g0042 | 1 | 116 | 0.0086 | 961 | c.199 others(980): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(954): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 | 1 | 370 | 0.0027 | 961 | c.284 others(980): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(954): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG02818.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0016 | a0002c0002t0003g0003a0002c0002t0003g0032a0002c0002t0003g0080others(5): Show | 8 | 370 | 0.0216 | 961 | c.284 others(980): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50679070 | A | ATGGGGAG others(954): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0059 | 1 | 316 | 0.0032 | 961 | c.257 others(980): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328681 | G | GTGTGTGT others(954): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0215 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(954): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(954): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(954): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(954): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(954): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(954): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(954): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0177 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(954): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(954): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 432 | 0.0023 | 961 | c.199 others(978): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82139976 | A | AGGGAGGT others(955): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03453.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0015 | a0002c0002t0004g0210a0002c0002t0015g0209 | 2 | 226 | 0.0089 | 962 | c.217 others(981): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138018896 | C | CCAGGTGC others(955): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0004 | a0004c0043 | a0004c0043t0009 | a0004c0043t0009g0078 | 1 | 248 | 0.0040 | 962 | c.226 others(981): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 420937 | A | ACACACAT others(955): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 432 | 0.0023 | 962 | c.413 others(979): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293103 | G | GGTCCACC others(955): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0007 | a0007c0040 | a0007c0040t0011 | a0007c0040t0011g0054 | 1 | 284 | 0.0035 | 962 | c.411 others(981): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATGTATA others(955): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0175 | 1 | 236 | 0.0042 | 962 | c.342 others(983): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(955): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 320 | 0.0031 | 962 | c.380 others(979): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |