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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRTC3_chr15_90524923_90650345 | 90647405 | T | TCCTCCTC others(4358): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0008 | a0008c0012 | a0008c0012t0021 | a0008c0012t0021g0029 | 1 | 276 | 0.0036 | 4365 | c.*52 others(4376): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2061 | chr15 | TogoVar | |||||||
PRKCI_chr3_170217424_170310977 | 170233220 | T | TTTGGGGG others(4358): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 342 | 0.0029 | 4365 | c.102 others(4382): Show |
PRKCI | ENSG00000163558.13 | transcript | ENST00000295797.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586452 | G | GAGGGGAA others(4360): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0139 | 1 | 308 | 0.0033 | 4367 | c.157 others(4384): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(4361): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 290 | 0.0035 | 4368 | c.129 others(4387): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(4362): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 | 1 | 40 | 0.0250 | 4369 | c.169 others(4386): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948596 | G | GGGCGTGT others(4363): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 356 | 0.0028 | 4370 | c.114 others(4387): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
FAM240C_chr2_241888988_241905464 | 241896502 | A | AGGGGGTG others(4367): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 37 | 0.0270 | 4374 | c.161 others(4389): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4369): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 370 | 0.0027 | 4376 | c.891 others(4391): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4369): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0232 | 1 | 282 | 0.0036 | 4376 | c.299 others(4391): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(4369): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0096 | 1 | 214 | 0.0047 | 4376 | c.206 others(4395): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(4371): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0052 | 1 | 188 | 0.0053 | 4378 | c.147 others(4395): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502701 | C | CGAGGGGG others(4373): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0071 | 1 | 188 | 0.0053 | 4380 | c.147 others(4397): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
FBF1_chr17_75904574_75946042 | 75916639 | T | TAAAACCT others(4376): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 318 | 0.0031 | 4383 | c.250 others(4402): Show |
FBF1 | ENSG00000188878.20 | transcript | ENST00000636174.2 | protein_coding | 23/29 | chr17 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(4376): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0100 | a0001c0100t0001 | a0001c0100t0001g0092 | 1 | 186 | 0.0054 | 4383 | c.723 others(4400): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(4376): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 290 | 0.0035 | 4383 | c.129 others(4402): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(4378): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0187 | 1 | 312 | 0.0032 | 4385 | c.306 others(4404): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105237109 | T | TGTGGCAC others(4379): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 72 | 0.0139 | 4386 | c.694 others(4403): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105239047 | C | CGTGGCAC others(4379): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 72 | 0.0139 | 4386 | c.694 others(4403): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105240067 | T | TGTGGCAC others(4379): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 72 | 0.0139 | 4386 | c.694 others(4403): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492487 | T | TTCCCGGG others(4379): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0027 | 1 | 295 | 0.0034 | 4386 | c.126 others(4405): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCTC others(4379): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0008 | 1 | 60 | 0.0167 | 4386 | c.299 others(4403): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4381): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 337 | 0.0030 | 4388 | c.118 others(4407): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4381): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 336 | 0.0030 | 4388 | c.112 others(4405): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4382): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 337 | 0.0030 | 4389 | c.118 others(4408): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4384): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 336 | 0.0030 | 4391 | c.112 others(4408): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3437768 | T | TCACCCCA others(4384): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0030 | 1 | 344 | 0.0029 | 4391 | c.141 others(4410): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4385): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 251 | 0.0040 | 4392 | c.-45 others(4401): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4385): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0213 | 1 | 282 | 0.0036 | 4392 | c.299 others(4407): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841610 | A | AGCGCATC others(4386): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 242 | 0.0041 | 4393 | c.361 others(4412): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4387): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 251 | 0.0040 | 4394 | c.-45 others(4403): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 241163777 | G | GTTAAAAA others(4389): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 112 | 0.0089 | 4396 | c.79- others(4413): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 241163777 | G | GTTAAAAA others(4389): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 112 | 0.0089 | 4396 | c.79- others(4413): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
GABRB1_chr4_47026567_47431447 | 47346479 | T | TGGCATTA others(4391): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0059 | 1 | 158 | 0.0063 | 4398 | c.544 others(4417): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAL_chr15_43325672_43359569 | 43334153 | G | GTCACTGC others(4392): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0198 | 1 | 386 | 0.0026 | 4399 | c.-16 others(4416): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
LCMT2_chr15_43318649_43335573 | 43334153 | G | GTCACTGC others(4392): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0000 | 1 | 410 | 0.0024 | 4399 | c.-36 others(4410): Show |
LCMT2 | ENSG00000168806.8 | transcript | ENST00000305641.7 | protein_coding | 3581 | chr15 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501188 | C | CATCCCGC others(4392): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0000 | a0000c0031 | a0000c0031t0007 | a0000c0031t0007g0104 | 1 | 318 | 0.0031 | 4399 | c.268 others(4418): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
ADAL_chr15_43325672_43359569 | 43334153 | G | GTCACTGC others(4393): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0199 | 1 | 386 | 0.0026 | 4400 | c.-16 others(4417): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344764 | T | TGTGTGTG others(4393): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0004 | a0003c0004t0028 | a0003c0004t0028g0006 | 1 | 268 | 0.0037 | 4400 | c.62+ others(4413): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LCMT2_chr15_43318649_43335573 | 43334153 | G | GTCACTGC others(4393): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0000 | 1 | 410 | 0.0024 | 4400 | c.-36 others(4411): Show |
LCMT2 | ENSG00000168806.8 | transcript | ENST00000305641.7 | protein_coding | 3581 | chr15 | TogoVar | |||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(4395): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0123 | 1 | 423 | 0.0024 | 4402 | c.*19 others(4413): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
OTUD6B_chr8_91065344_91092093 | 91066603 | T | TGGGTATT others(4396): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 372 | 0.0027 | 4403 | c.-37 others(4414): Show |
OTUD6B | ENSG00000155100.11 | transcript | ENST00000404789.8 | protein_coding | 3740 | chr8 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(4397): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02630.hp1 HG03225.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0105 a0001c0003t0001g0121 a0001c0003t0001g0130 |
3 | 170 | 0.0177 | 4404 | c.642 others(4421): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(4397): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0130 | 1 | 423 | 0.0024 | 4404 | c.*19 others(4415): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4398): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0231 | 1 | 282 | 0.0036 | 4405 | c.299 others(4420): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863960 | T | TTCCCACC others(4400): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0174 | 1 | 318 | 0.0031 | 4407 | c.225 others(4424): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4401): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0006 | a0006c0021 | a0006c0021t0001 | a0006c0021t0001g0239 | 1 | 282 | 0.0036 | 4408 | c.299 others(4423): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(4401): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 44 | 0.0227 | 4408 | c.296 others(4425): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(4402): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 168 | 0.0060 | 4409 | c.206 others(4430): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364346 | A | ACATCTAC others(4402): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0228 | 1 | 290 | 0.0035 | 4409 | c.129 others(4428): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(4402): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG03225.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 others(1): Show |
4 | 282 | 0.0142 | 4409 | c.286 others(4426): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |