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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2319): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0014 | a0014c0055 | a0014c0055t0001 | a0014c0055t0001g0091 | 1 | 104 | 0.0096 | 2326 | c.354 others(2345): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2319): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0007 | 1 | 104 | 0.0096 | 2326 | c.354 others(2345): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2319): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 104 | 0.0096 | 2326 | c.354 others(2345): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647427 | A | ACACCCCT others(2319): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0013 | a0003c0013t0005 | a0003c0013t0005g0014 | 1 | 276 | 0.0036 | 2326 | c.*52 others(2337): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2083 | chr15 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2319): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0258 | 1 | 369 | 0.0027 | 2326 | c.-50 others(2337): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2319): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0048 | a0048c0046 | a0048c0046t0001 | a0048c0046t0001g0091 | 1 | 186 | 0.0054 | 2326 | c.956 others(2343): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2319): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 116 | 0.0086 | 2326 | c.522 others(2343): 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(2319): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 | 1 | 116 | 0.0086 | 2326 | c.522 others(2343): 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(2319): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0115 | 1 | 116 | 0.0086 | 2326 | c.522 others(2343): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150365 | C | CACCACAC others(2319): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 294 | 0.0034 | 2326 | c.902 others(2341): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2319): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0048 | a0048c0039 | a0048c0039t0001 | a0048c0039t0001g0183 | 1 | 216 | 0.0046 | 2326 | c.801 others(2343): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2319): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0096 | a0002c0096t0001 | a0002c0096t0001g0076 | 1 | 216 | 0.0046 | 2326 | c.801 others(2343): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2319): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0003 | 1 | 420 | 0.0024 | 2326 | c.*32 others(2337): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23042996 | G | GGGGACTT others(2319): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 351 | 0.0029 | 2326 | c.-34 others(2337): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3428 | chr15 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2319): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0077 | 2 | 356 | 0.0056 | 2326 | c.114 others(2343): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2320): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0088 | 1 | 104 | 0.0096 | 2327 | c.354 others(2346): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469984 | A | AGGGGAGG others(2320): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0070 | 1 | 104 | 0.0096 | 2327 | c.354 others(2346): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(2320): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 40 | 0.0250 | 2327 | c.347 others(2348): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(2320): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0009 | a0001c0009t0019 | a0001c0009t0019g0027 | 1 | 40 | 0.0250 | 2327 | c.347 others(2348): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2320): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 301 | 0.0033 | 2327 | c.-11 others(2338): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868121 | T | TGTAATGT others(2320): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 301 | 0.0033 | 2327 | c.-11 others(2338): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 826 | chr11 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(2320): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0161 | 1 | 178 | 0.0056 | 2327 | c.773 others(2342): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2320): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0004 | a0004c0002 | a0004c0002t0026 | a0004c0002t0026g0028 | 1 | 216 | 0.0046 | 2327 | c.801 others(2344): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2320): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01993.hp2 |
a0001a0037 | a0001c0027a0037c0116 | a0001c0027t0003a0037c0116t0003 | a0001c0027t0003g0109a0037c0116t0003g0125 | 2 | 216 | 0.0093 | 2327 | c.801 others(2344): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PLEC_chr8_143910153_143978529 | 143967352 | G | GACTCCAT others(2320): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 302 | 0.0033 | 2327 | c.70+ others(2342): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 1/31 | chr8 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2320): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2327 | c.*44 others(2338): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2320): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 356 | 0.0028 | 2327 | c.114 others(2344): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2321): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0047 | a0047c0046 | a0047c0046t0004 | a0047c0046t0004g0273 | 1 | 332 | 0.0030 | 2328 | c.179 others(2343): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2321): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0051 | a0051c0117 | a0051c0117t0001 | a0051c0117t0001g0072 | 1 | 186 | 0.0054 | 2328 | c.723 others(2345): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2321): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0003 | a0003c0115 | a0003c0115t0003 | a0003c0115t0003g0110 | 1 | 216 | 0.0046 | 2328 | c.801 others(2345): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2321): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0027 | a0027c0045 | a0027c0045t0002 | a0027c0045t0002g0207 | 1 | 216 | 0.0046 | 2328 | c.801 others(2345): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2321): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0223 | 1 | 276 | 0.0036 | 2328 | c.58- others(2345): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252911 | C | CCACCACC others(2322): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 366 | 0.0027 | 2329 | c.666 others(2346): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399534 | A | ACCACCAT others(2322): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 314 | 0.0032 | 2329 | c.-25 others(2346): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1372052 | A | ACTCCAGC others(2322): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0095 | 1 | 115 | 0.0087 | 2329 | c.875 others(2346): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2322): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0090 | 1 | 186 | 0.0054 | 2329 | c.723 others(2346): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2323): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2330 | c.*44 others(2341): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2323): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 186 | 0.0054 | 2330 | c.-50 others(2341): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2323): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 356 | 0.0028 | 2330 | c.114 others(2347): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2324): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 334 | 0.0030 | 2331 | c.147 others(2348): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2324): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0098 | 1 | 298 | 0.0034 | 2331 | c.126 others(2348): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FRA10AC1_chr10_93662883_93707592 | 93702516 | A | ACCGCCGC others(2324): Show |
5_prime_UTR_variant | MODIFIER | HG02300.hp1 | a0004 | a0004c0004 | a0004c0004t0022 | a0004c0004t0022g0063 | 1 | 364 | 0.0028 | 2331 | c.-14 others(2340): Show |
FRA10AC1 | ENSG00000148690.12 | transcript | ENST00000359204.5 | protein_coding | 1/14 | 2411 | chr10 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399457 | C | CCACCATC others(2324): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0143 | 1 | 314 | 0.0032 | 2331 | c.-25 others(2348): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120443 | T | TGGAAATG others(2324): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0346 | 1 | 368 | 0.0027 | 2331 | c.353 others(2346): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120443 | T | TGGAAATG others(2324): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0230 | 1 | 368 | 0.0027 | 2331 | c.353 others(2346): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120443 | T | TGGAAATG others(2324): Show |
intron_variant | MODIFIER | HG03017.hp2 NA19088.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0203a0002c0003t0003g0225 | 2 | 368 | 0.0054 | 2331 | c.353 others(2346): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507256 | G | GGGGGGGT others(2324): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 260 | 0.0039 | 2331 | c.624 others(2348): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876946 | T | TGGAGGTT others(2324): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 274 | 0.0037 | 2331 | c.224 others(2350): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877171 | G | GGGAAGTT others(2324): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0188 | 1 | 274 | 0.0037 | 2331 | c.224 others(2350): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0007 | a0007c0023 | a0007c0023t0013 | a0007c0023t0013g0023 | 1 | 216 | 0.0046 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |