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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2402): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 301 | 0.0033 | 2409 | c.-11 others(2420): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(2402): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0276 | 1 | 312 | 0.0032 | 2409 | c.*82 others(2420): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2403): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0151 | 1 | 170 | 0.0059 | 2410 | c.642 others(2427): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2403): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0024 | a0024c0040 | a0024c0040t0001 | a0024c0040t0001g0059 | 1 | 292 | 0.0034 | 2410 | c.228 others(2427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2403): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0019 | a0019c0033 | a0019c0033t0002 | a0019c0033t0002g0062 | 1 | 292 | 0.0034 | 2410 | c.228 others(2427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2403): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 292 | 0.0034 | 2410 | c.228 others(2427): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2403): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0069 | a0002c0069t0002 | a0002c0069t0002g0341 | 1 | 369 | 0.0027 | 2410 | c.-50 others(2421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2403): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0103 | 1 | 369 | 0.0027 | 2410 | c.-50 others(2421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2403): Show |
upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0334 | 1 | 369 | 0.0027 | 2410 | c.-50 others(2421): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2403): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2410 | c.-17 others(2421): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2403): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2410 | c.-17 others(2421): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2403): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 301 | 0.0033 | 2410 | c.-11 others(2421): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2403): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0041 | 1 | 216 | 0.0046 | 2410 | c.801 others(2427): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312100 | C | CCTCACCT others(2403): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 344 | 0.0029 | 2410 | c.327 others(2427): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312100 | C | CCTCACCT others(2403): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 344 | 0.0029 | 2410 | c.327 others(2427): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2404): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0048 | 1 | 364 | 0.0028 | 2411 | c.445 others(2426): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2404): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0075 | 1 | 364 | 0.0028 | 2411 | c.445 others(2426): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(2404): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0004 | 1 | 40 | 0.0250 | 2411 | c.169 others(2428): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2404): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 301 | 0.0033 | 2411 | c.-11 others(2422): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2404): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 301 | 0.0033 | 2411 | c.-11 others(2422): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2404): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01168.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 others(1): Show |
5 | 301 | 0.0166 | 2411 | c.-11 others(2422): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2404): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 301 | 0.0033 | 2411 | c.-11 others(2422): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2404): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG02071.hp1 NA18942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0014g0160 |
4 | 301 | 0.0133 | 2411 | c.-11 others(2422): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2404): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 301 | 0.0033 | 2411 | c.-11 others(2422): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2404): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 301 | 0.0033 | 2411 | c.-11 others(2422): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2404): Show |
upstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 301 | 0.0033 | 2411 | c.-11 others(2422): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
NEURL3_chr2_96492646_96510357 | 96499868 | T | TAACAAAT others(2404): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 394 | 0.0025 | 2411 | c.515 others(2426): Show |
NEURL3 | ENSG00000163121.10 | transcript | ENST00000451794.6 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(2404): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 295 | 0.0034 | 2411 | c.126 others(2430): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2404): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 362 | 0.0028 | 2411 | c.-18 others(2432): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181046065 | C | CCCCCAAC others(2405): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0015 | a0015c0026 | a0015c0026t0005 | a0015c0026t0005g0263 | 1 | 390 | 0.0026 | 2412 | c.109 others(2427): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152671 | T | TCTCCTTC others(2405): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 274 | 0.0037 | 2412 | c.804 others(2429): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2405): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 301 | 0.0033 | 2412 | c.-11 others(2423): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2405): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 NA18962.hp2 NA18963.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0083 others(1): Show |
7 | 301 | 0.0233 | 2412 | c.-11 others(2423): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2405): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 301 | 0.0033 | 2412 | c.-11 others(2423): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189669 | G | GAGGGAGG others(2405): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0042 | 1 | 62 | 0.0161 | 2412 | c.-36 others(2433): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2405): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 | 1 | 116 | 0.0086 | 2412 | c.522 others(2429): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2405): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0000 | 1 | 375 | 0.0027 | 2412 | c.*44 others(2423): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431769 | G | GAGGGTGG others(2405): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0239 | 1 | 376 | 0.0027 | 2412 | c.101 others(2431): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432021 | C | CAGGGTGG others(2405): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 376 | 0.0027 | 2412 | c.101 others(2429): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(2406): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0181 | 1 | 292 | 0.0034 | 2413 | c.268 others(2432): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2406): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0203 | 1 | 316 | 0.0032 | 2413 | c.44- others(2426): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635019 | T | TCTTTCCC others(2406): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 250 | 0.0040 | 2413 | c.105 others(2428): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2406): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0023 | a0001c0023t0002 | a0001c0023t0002g0001 | 2 | 292 | 0.0069 | 2413 | c.228 others(2430): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2406): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0027 | a0027c0101 | a0027c0101t0040 | a0027c0101t0040g0344 | 1 | 369 | 0.0027 | 2413 | c.-50 others(2424): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2406): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 395 | 0.0025 | 2413 | c.*69 others(2424): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2406): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 116 | 0.0086 | 2413 | c.522 others(2430): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2406): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0077 | 1 | 116 | 0.0086 | 2413 | c.522 others(2430): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950850 | T | TACTGGCA others(2406): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005 | 1 | 350 | 0.0029 | 2413 | c.-25 others(2424): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2389 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2406): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 367 | 0.0027 | 2413 | c.4-1 others(2426): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2406): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0077 | a0001c0077t0001 | a0001c0077t0001g0061 | 1 | 216 | 0.0046 | 2413 | c.801 others(2430): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |