| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| REPS2_chrX_16941658_17158272 | 17050141 | C | CCTTCCTT others(238): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0051 | 1 | 166 | 0.0060 | 245 | c.908 others(262): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RGPD3_chr2_106398406_106473413 | 106466993 | C | CGCCTCCA others(238): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0339 | 1 | 382 | 0.0026 | 245 | c.72+ others(260): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RGPD3_chr2_106398406_106473413 | 106466993 | C | CGCCTCCA others(238): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(57): Show |
a0002a0009a0016others(7): Show | a0002c0002a0002c0024a0002c0033others(11): Show | a0002c0002t0001a0002c0002t0032a0002c0002t0074others(15): Show | a0002c0002t0001g0289a0002c0002t0001g0290a0002c0002t0001g0292others(57): Show | 60 | 382 | 0.1571 | 245 | c.72+ others(260): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RGPD4_chr2_107821892_107897544 | 107828104 | C | CGGCTGCC others(238): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02486.hp1 HG04228.hp1 others(1): Show |
a0003 | a0003c0002 | a0003c0002t0003a0003c0002t0006 | a0003c0002t0003g0021a0003c0002t0003g0023a0003c0002t0003g0024others(1): Show | 4 | 374 | 0.0107 | 245 | c.72+ others(260): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RGPD4_chr2_107821892_107897544 | 107828723 | G | GGCCGCGA others(238): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0022 | a0022c0031 | a0022c0031t0014 | a0022c0031t0014g0010 | 1 | 374 | 0.0027 | 245 | c.72+ others(260): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RNASE10_chr14_20500537_20518884 | 20505261 | G | GCTCCCTC others(238): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 396 | 0.0025 | 245 | c.-76 others(254): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 275 | chr14 | TogoVar | ||||||
| RNASE10_chr14_20500537_20518884 | 20505306 | C | CCCTCTCC others(238): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0019 | 1 | 396 | 0.0025 | 245 | c.-71 others(254): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 230 | chr14 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679372 | T | TACATGTT others(238): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02135.hp1 HG04115.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0016 | a0001c0001t0001g0154a0001c0001t0001g0172a0001c0001t0001g0254others(2): Show | 5 | 308 | 0.0162 | 245 | c.-75 others(264): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPAP3_chr12_47656249_47711030 | 47670330 | C | CCTCGCCC others(238): Show |
frameshift_variant | HIGH | HG01515.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0152 | 1 | 414 | 0.0024 | 245 | c.130 others(254): Show |
p.Val others(5): Show |
RPAP3 | ENSG00000005175.10 | transcript | ENST00000005386.8 | protein_coding | 13/17 | 1387/4339 | 1302/1998 | 434/665 | chr12 | TogoVar | ||
| RTN1_chr14_59590983_59875776 | 59750591 | T | TATATCTA others(238): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | 172 | 0.0116 | 245 | c.242 others(262): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
| RTN4RL1_chr17_1929677_2030334 | 1946506 | C | CGTGGATC others(238): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0014a0001c0002t0004others(1): Show | a0001c0001t0002g0158a0001c0001t0002g0159a0001c0001t0002g0160others(5): Show | 9 | 384 | 0.0234 | 245 | c.14- others(260): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
| RUNX1_chr21_34782801_35054302 | 34849424 | G | GTATATAT others(238): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 170 | 0.0059 | 245 | c.613 others(264): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | ||||||
| RUSC2_chr9_35485111_35566895 | 35495073 | A | ATATATTA others(238): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01952.hp2 HG02257.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0112a0001c0001t0001g0192a0001c0001t0001g0194others(11): Show | 14 | 322 | 0.0435 | 245 | c.-93 others(262): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RXRA_chr9_134321455_134445585 | 134444377 | C | CCCTCCTT others(238): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0127 | 1 | 232 | 0.0043 | 245 | c.*77 others(256): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3793 | chr9 | TogoVar | ||||||
| RYR2_chr1_237037184_237838988 | 237281993 | A | ACAGAGTG others(238): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0035 | a0001c0001t0004a0002c0035t0021 | a0001c0001t0004g0036a0002c0035t0021g0010 | 2 | 100 | 0.0200 | 245 | c.168 others(264): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 2/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SEL1L2_chr20_13844247_13995614 | 13934390 | T | TATATATA others(238): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01993.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0185a0001c0001t0001g0196 | 3 | 324 | 0.0093 | 245 | c.115 others(262): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEMA3E_chr7_83358238_83654139 | 83617457 | A | ATAATATA others(238): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0034 | 1 | 226 | 0.0044 | 245 | c.115 others(264): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 411273 | G | GGGGGGTG others(238): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 242 | 0.0041 | 245 | c.-15 others(264): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 411273 | G | GGGGGGTG others(238): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0029 | 1 | 242 | 0.0041 | 245 | c.-15 others(264): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 411274 | G | GGGGGTGC others(238): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02897.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0105a0001c0006t0001g0109 | 2 | 242 | 0.0083 | 245 | c.-15 others(264): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 412377 | C | CCAGCTCT others(238): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 242 | 0.0041 | 245 | c.-15 others(264): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070182 | G | GAGCCCCC others(238): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0001 | 1 | 118 | 0.0085 | 245 | c.224 others(264): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC2A5_chr1_9030106_9074635 | 9053341 | C | CGATATAT others(238): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0265 | 1 | 336 | 0.0030 | 245 | c.293 others(262): Show |
SLC2A5 | ENSG00000142583.18 | transcript | ENST00000377424.9 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
| SLC35F3_chr1_233899676_234329511 | 234140002 | A | AATAAAAT others(238): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 158 | 0.0063 | 245 | c.284 others(264): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 495377 | G | GCTCCCCG others(238): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0031 | a0001c0031t0004 | a0001c0031t0004g0159 | 1 | 218 | 0.0046 | 245 | c.212 others(262): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SMAD2_chr18_47803957_47935659 | 47850548 | A | AATATATA others(238): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0199 | 1 | 310 | 0.0032 | 245 | c.784 others(260): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
| SPATC1L_chr21_46156160_46189459 | 46161025 | G | GTGGAGGG others(238): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0203 | 1 | 251 | 0.0040 | 245 | c.*35 others(254): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 134 | chr21 | TogoVar | ||||||
| SPATC1L_chr21_46156160_46189459 | 46161025 | G | GTGGAGGG others(238): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0058 | 1 | 251 | 0.0040 | 245 | c.*35 others(254): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 134 | chr21 | TogoVar | ||||||
| SPATC1L_chr21_46156160_46189459 | 46161025 | G | GTGGAGGG others(238): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0042 | 1 | 251 | 0.0040 | 245 | c.*35 others(254): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 134 | chr21 | TogoVar | ||||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCT others(238): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 245 | c.*54 others(256): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(238): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 260 | 0.0039 | 245 | c.138 others(264): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
| SPOCK1_chr5_136970298_137504326 | 137160551 | T | TATATATT others(238): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074a0001c0001t0002g0122 | 2 | 152 | 0.0132 | 245 | c.233 others(264): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
| SPOCK1_chr5_136970298_137504326 | 137160551 | T | TATATATT others(238): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 152 | 0.0066 | 245 | c.233 others(264): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
| SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATACTTA others(238): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 144 | 0.0069 | 245 | c.190 others(264): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
| SRBD1_chr2_45383680_45616267 | 45587038 | T | TATTTTAA others(238): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02129.hp2 NA19000.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0324a0002c0002t0001g0335a0002c0002t0001g0338others(1): Show | 4 | 358 | 0.0112 | 245 | c.649 others(262): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | ||||||
| STEAP4_chr7_88265892_88311894 | 88266114 | C | CCCCCCCA others(238): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG03209.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0039a0001c0001t0012g0246 | 3 | 318 | 0.0094 | 245 | c.*13 others(258): Show |
STEAP4 | ENSG00000127954.13 | transcript | ENST00000380079.9 | protein_coding | 4777 | chr7 | TogoVar | ||||||
| SUFU_chr10_102498972_102638535 | 102637701 | A | AATATAAT others(238): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221a0001c0001t0003g0222 | 2 | 268 | 0.0075 | 245 | c.*75 others(256): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4167 | chr10 | TogoVar | ||||||
| SYK_chr9_90796819_90903549 | 90884884 | T | TATATACA others(238): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0033 | 1 | 376 | 0.0027 | 245 | c.158 others(264): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SYNE2_chr14_63848004_64231433 | 64224413 | A | ATGCATGA others(238): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0070 | a0070c0039 | a0070c0039t0004 | a0070c0039t0004g0067 | 1 | 150 | 0.0067 | 245 | c.203 others(262): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 113/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| TCF12_chr15_56913644_57294853 | 57075863 | C | CTTTCTTT others(238): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0314 | 1 | 330 | 0.0030 | 245 | c.222 others(264): Show |
TCF12 | ENSG00000140262.18 | transcript | ENST00000333725.10 | protein_coding | 4/20 | chr15 | TogoVar | ||||||
| TECTA_chr11_121096243_121196490 | 121185326 | G | GTGAGTAG others(238): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03139.hp2 HG03579.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0133a0003c0004t0004g0138a0003c0004t0004g0139 | 3 | 348 | 0.0086 | 245 | c.600 others(264): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TECTA_chr11_121096243_121196490 | 121185326 | G | GTGAGTAG others(238): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(49): Show |
a0001a0002a0003others(7): Show | a0001c0005a0001c0011a0001c0014others(12): Show | a0001c0005t0002a0001c0011t0002a0001c0014t0002others(13): Show | a0001c0005t0002g0099a0001c0011t0002g0313a0001c0014t0002g0323others(48): Show | 52 | 348 | 0.1494 | 245 | c.600 others(264): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TECTA_chr11_121096243_121196490 | 121185380 | G | GTTGAATG others(238): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0140 | 1 | 348 | 0.0029 | 245 | c.600 others(264): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAGT others(238): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02886.hp1 |
a0003a0018 | a0003c0004a0018c0053 | a0003c0004t0002a0018c0053t0002 | a0003c0004t0002g0204a0018c0053t0002g0276 | 2 | 348 | 0.0058 | 245 | c.600 others(264): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TEX19_chr17_82354247_82368775 | 82360036 | C | CAGTTTCC others(238): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 380 | 0.0026 | 245 | c.-27 others(262): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TGM2_chr20_38122385_38170270 | 38124178 | T | TATATATT others(238): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01884.hp1 HG02615.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0005a0005c0013t0005 | a0001c0001t0005g0036a0001c0001t0005g0117a0001c0001t0005g0118others(6): Show | 10 | 360 | 0.0278 | 245 | c.*60 others(256): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3206 | chr20 | TogoVar | ||||||
| THNSL2_chr2_88165346_88191627 | 88181312 | C | CCTCTCTC others(238): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02523.hp1 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0003a0001c0012t0003 | a0001c0003t0003g0005a0001c0012t0003g0007 | 2 | 54 | 0.0370 | 245 | c.803 others(262): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TMCO3_chr13_113486021_113555229 | 113543413 | C | CCCCCACC others(238): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18975.hp2 NA18993.hp1 |
a0002a0003 | a0002c0003a0003c0002 | a0002c0003t0003a0003c0002t0002 | a0002c0003t0003g0265a0003c0002t0002g0068a0003c0002t0002g0077 | 3 | 368 | 0.0082 | 245 | c.169 others(264): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129858056 | G | GTAACGGA others(238): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0022 | 1 | 94 | 0.0106 | 245 | c.79+ others(262): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129858056 | G | GTAACGGA others(238): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0014 | a0001c0001t0002a0001c0004t0001a0001c0004t0008others(1): Show | a0001c0001t0002g0058a0001c0004t0001g0046a0001c0004t0008g0089others(1): Show | 4 | 94 | 0.0426 | 245 | c.79+ others(262): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar |