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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2262): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 4 | 301 | 0.0133 | 2269 | c.-11 others(2280): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2262): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0156 | 1 | 186 | 0.0054 | 2269 | c.723 others(2286): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2262): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0164 | 1 | 186 | 0.0054 | 2269 | c.723 others(2286): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2262): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0053 | a0053c0119 | a0053c0119t0001 | a0053c0119t0001g0071 | 1 | 186 | 0.0054 | 2269 | c.723 others(2286): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(2262): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 178 | 0.0056 | 2269 | c.773 others(2284): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2262): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 367 | 0.0027 | 2269 | c.4-1 others(2282): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2262): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 367 | 0.0027 | 2269 | c.4-1 others(2282): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2262): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03669.hp1 HG04228.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0233a0001c0001t0002g0053 | 4 | 367 | 0.0109 | 2269 | c.4-1 others(2282): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2262): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 367 | 0.0027 | 2269 | c.4-1 others(2282): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2262): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 367 | 0.0027 | 2269 | c.4-1 others(2282): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2262): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0311 | 1 | 358 | 0.0028 | 2269 | c.257 others(2286): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917306 | G | GTTCGGCT others(2262): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 344 | 0.0029 | 2269 | c.218 others(2286): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2263): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 466 | 0.0022 | 2270 | c.-22 others(2287): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ERICH1_chr8_659200_736224 | 659547 | T | TGTGCACT others(2263): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 378 | 0.0027 | 2270 | c.*50 others(2281): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4652 | chr8 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2263): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0009 | a0009c0022 | a0009c0022t0001 | a0009c0022t0001g0265 | 1 | 369 | 0.0027 | 2270 | c.-50 others(2281): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2263): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0067 | a0067c0108 | a0067c0108t0002 | a0067c0108t0002g0043 | 1 | 216 | 0.0046 | 2270 | c.801 others(2287): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2263): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0015 | a0015c0047 | a0015c0047t0009 | a0015c0047t0009g0017 | 1 | 216 | 0.0046 | 2270 | c.801 others(2287): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2263): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0126 | 1 | 272 | 0.0037 | 2270 | c.-12 others(2291): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2263): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02723.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0004c0009t0002 | a0001c0001t0002g0054a0004c0009t0002g0211a0004c0009t0002g0212 | 3 | 272 | 0.0110 | 2270 | c.-12 others(2291): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2264): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0257 | 1 | 298 | 0.0034 | 2271 | c.955 others(2288): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2264): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0180 | 1 | 322 | 0.0031 | 2271 | c.439 others(2288): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2264): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02818.hp2 HG02896.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0009a0001c0006t0002a0002c0002t0015others(6): Show | a0001c0001t0009g0202a0001c0006t0002g0028a0002c0002t0015g0004others(8): Show | 11 | 322 | 0.0342 | 2271 | c.439 others(2288): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2264): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02895.hp1 HG03041.hp1 others(1): Show |
a0004a0005 | a0004c0011a0004c0015a0005c0012 | a0004c0011t0005a0004c0011t0009a0004c0015t0008others(1): Show | a0004c0011t0005g0197a0004c0011t0009g0195a0004c0015t0008g0196others(1): Show | 4 | 322 | 0.0124 | 2271 | c.439 others(2288): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24424994 | T | TTAAATTC others(2264): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0045 | a0045c0060 | a0045c0060t0001 | a0045c0060t0001g0023 | 1 | 362 | 0.0028 | 2271 | c.497 others(2290): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 33/33 | chr13 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2264): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0068 | a0068c0107 | a0068c0107t0029 | a0068c0107t0029g0214 | 1 | 216 | 0.0046 | 2271 | c.801 others(2288): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2264): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 216 | 0.0046 | 2271 | c.801 others(2288): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358768 | T | TCCGTGTG others(2265): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 |
a0001 | a0001c0014 | a0001c0014t0006 | a0001c0014t0006g0017a0001c0014t0006g0093 | 2 | 298 | 0.0067 | 2272 | c.290 others(2289): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2265): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0120 | 1 | 276 | 0.0036 | 2272 | c.*52 others(2283): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2265): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0284 | 1 | 322 | 0.0031 | 2272 | c.439 others(2289): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2265): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0060 | a0060c0050 | a0060c0050t0002 | a0060c0050t0002g0006 | 1 | 216 | 0.0046 | 2272 | c.801 others(2289): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2265): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 272 | 0.0037 | 2272 | c.-12 others(2293): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(2266): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0033 | a0002c0033t0002 | a0002c0033t0002g0214 | 1 | 298 | 0.0034 | 2273 | c.955 others(2290): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2266): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 466 | 0.0022 | 2273 | c.-22 others(2290): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2266): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0284 | 1 | 298 | 0.0034 | 2273 | c.126 others(2290): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586251 | G | GGCCGGGG others(2266): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0293 | 1 | 308 | 0.0033 | 2273 | c.157 others(2288): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2266): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0003 | a0003c0008 | a0003c0008t0012 | a0003c0008t0012g0281 | 1 | 322 | 0.0031 | 2273 | c.439 others(2290): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2266): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02074.hp2 NA18747.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0039a0001c0001t0004g0213a0001c0001t0004g0217others(5): Show | 8 | 322 | 0.0248 | 2273 | c.439 others(2290): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2266): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0214 | 1 | 322 | 0.0031 | 2273 | c.439 others(2290): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2266): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19074.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0002 | a0001c0001t0006g0146a0002c0002t0002g0147 | 2 | 322 | 0.0062 | 2273 | c.439 others(2290): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2266): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03041.hp1 |
a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0046a0001c0003t0012g0052 | 2 | 116 | 0.0172 | 2273 | c.522 others(2290): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132149696 | G | GGCCGCCT others(2266): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0192 | 1 | 294 | 0.0034 | 2273 | c.901 others(2288): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM218_chr11_125089389_125116626 | 125090791 | T | TGGGGGGG others(2266): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 438 | 0.0023 | 2273 | c.*68 others(2284): Show |
TMEM218 | ENSG00000150433.10 | transcript | ENST00000682305.1 | protein_coding | 3597 | chr11 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2267): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0033 | a0002c0033t0001 | a0002c0033t0001g0117 | 1 | 342 | 0.0029 | 2274 | c.578 others(2287): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2267): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0031 | a0002c0031t0005 | a0002c0031t0005g0081 | 1 | 342 | 0.0029 | 2274 | c.578 others(2287): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2267): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0180 | 1 | 298 | 0.0034 | 2274 | c.955 others(2291): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2267): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0133 | 1 | 466 | 0.0022 | 2274 | c.-22 others(2291): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2267): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0130 | 1 | 466 | 0.0022 | 2274 | c.-22 others(2291): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185638 | C | CGAGTAGA others(2267): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0037 | a0037c0081 | a0037c0081t0001 | a0037c0081t0001g0088 | 1 | 338 | 0.0030 | 2274 | c.300 others(2291): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2267): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0034 | 1 | 104 | 0.0096 | 2274 | c.354 others(2293): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(2267): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0006 | a0006c0026 | a0006c0026t0001 | a0006c0026t0001g0083 | 1 | 292 | 0.0034 | 2274 | c.268 others(2293): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |