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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NFATC1_chr18_79390930_79534323 | 79532188 | T | TCGGCAGA others(953): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0090 | 1 | 235 | 0.0043 | 960 | c.*46 others(971): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2866 | chr18 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535729 | G | GGAGCACT others(953): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0194 | 1 | 317 | 0.0032 | 960 | c.140 others(977): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(953): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0139 | 1 | 4 | 0.2500 | 960 | c.279 others(975): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 79257457 | G | GTGGTGAT others(953): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0011 | 1 | 21 | 0.0476 | 960 | c.326 others(983): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841603 | C | CGACCACG others(953): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0156 | 1 | 151 | 0.0066 | 960 | c.361 others(979): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841610 | A | AGCGCATC others(953): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 64 | 0.0156 | 960 | c.361 others(979): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(953): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0283 | 1 | 24 | 0.0417 | 960 | c.371 others(977): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(953): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0125 | 1 | 24 | 0.0417 | 960 | c.371 others(977): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502691 | A | ATGTGGGA others(953): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0173 | 1 | 170 | 0.0059 | 960 | c.147 others(977): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114080898 | T | TAGTGCCC others(953): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 |
2 | 57 | 0.0351 | 960 | c.56- others(975): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646443 | C | CCACCTCC others(953): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0012 | a0012c0052 | a0012c0052t0001 | a0012c0052t0001g0123 | 1 | 143 | 0.0070 | 960 | c.-35 others(981): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(953): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 119 | 0.0084 | 960 | c.389 others(981): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(953): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 10 | 0.1000 | 960 | c.-48 others(971): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(953): Show |
upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 10 | 0.1000 | 960 | c.-48 others(971): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(953): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0341 | 1 | 201 | 0.0050 | 960 | c.107 others(977): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(953): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 224 | 0.0045 | 960 | c.107 others(977): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(953): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02738.hp2 HG03017.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0020 a0002c0003t0001g0334 |
3 | 226 | 0.0133 | 960 | c.107 others(977): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852705 | T | TCCATCTT others(953): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0335 | 1 | 82 | 0.0122 | 960 | c.646 others(977): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(953): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0265 | 1 | 264 | 0.0038 | 960 | c.189 others(977): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(953): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0029 | 1 | 126 | 0.0079 | 960 | c.*54 others(971): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGAGGCT others(953): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0249 | 1 | 74 | 0.0135 | 960 | c.218 others(977): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(953): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0267 | 1 | 74 | 0.0135 | 960 | c.218 others(977): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(953): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 113 | 0.0088 | 960 | c.*53 others(971): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827898 | T | TGCCCACT others(953): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0153 | 1 | 183 | 0.0055 | 960 | c.449 others(977): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
XG_chrX_2747040_2821500 | 2773486 | G | GGAAGGAA others(953): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 290 | 0.0034 | 960 | c.104 others(977): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292556 | G | GCAAGTTA others(953): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 197 | 0.0051 | 960 | c.339 others(977): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(953): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 198 | 0.0051 | 960 | c.340 others(977): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(953): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 198 | 0.0051 | 960 | c.340 others(977): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119143 | C | CCTCCCAG others(954): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0136 | 1 | 332 | 0.0030 | 961 | c.246 others(978): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288569 | C | CCCCGTGT others(954): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0190 | 1 | 268 | 0.0037 | 961 | c.*49 others(972): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3821 | chr1 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251696 | G | GAGGGAGG others(954): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 233 | 0.0043 | 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 | a0001c0002t0005g0025 | 1 | 144 | 0.0069 | 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 | 223 | 0.0045 | 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 | 143 | 0.0070 | 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 | 143 | 0.0070 | 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 | a0001c0001t0003g0212 a0001c0001t0003g0213 |
2 | 144 | 0.0139 | 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 | a0003c0004t0001g0156 | 1 | 409 | 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 | a0001c0004t0006g0171 a0001c0004t0006g0172 |
2 | 89 | 0.0225 | 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 | a0001c0004t0006g0170 | 1 | 88 | 0.0114 | 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 | a0001c0001t0012g0119 | 1 | 130 | 0.0077 | 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 | a0001c0002t0003g0011 | 2 | 129 | 0.0155 | 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 | a0001c0002t0003g0011 | 1 | 128 | 0.0078 | 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 | a0001c0001t0001g0172 | 1 | 185 | 0.0054 | 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 | 185 | 0.0054 | 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 | a0003c0009t0001g0005 | 1 | 185 | 0.0054 | 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 | a0001c0001t0001g0160 | 1 | 185 | 0.0054 | 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 | a0005 | a0005c0025 | a0005c0025t0007 | a0005c0025t0007g0294 | 1 | 282 | 0.0035 | 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 | a0001c0003t0007g0097 | 1 | 269 | 0.0037 | 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 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 307 | 0.0033 | 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 | a0017 | a0017c0021 | a0017c0021t0002 | a0017c0021t0002g0252 | 1 | 263 | 0.0038 | 961 | c.153 others(978): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar |