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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLEKHG4B_chr5_87168_194966 | 166013 | G | AGCTCACA others(277): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0011 | a0011c0021 | a0011c0021t0057 | a0011c0021t0057g0197 | 1 | 210 | 0.0048 | 284 | c.347 others(303): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | chr5 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977787 | C | CCACCAAC others(277): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 | 1 | 422 | 0.0024 | 284 | c.*32 others(295): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1923 | chr1 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 282387 | G | GTGCACCT others(277): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 354 | 0.0028 | 284 | c.541 others(297): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 282449 | C | CGCTCCCC others(277): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 | 1 | 354 | 0.0028 | 284 | c.541 others(299): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291551 | A | AGGGGAGG others(277): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0045 | 2 | 354 | 0.0057 | 284 | c.-21 others(293): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 149 | chr19 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325249 | A | AGTGAGTG others(277): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0189 | 1 | 398 | 0.0025 | 284 | c.194 others(301): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
PPP1R12C_chr19_55085918_55122637 | 55096807 | A | ACCCCTTC others(277): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 390 | 0.0026 | 284 | c.952 others(299): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | |||||||
PPP1R9A_chr7_94902594_95301400 | 95248186 | T | TTAAAAAT others(277): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0062 | 1 | 290 | 0.0035 | 284 | c.216 others(301): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPP1R9A_chr7_94902594_95301400 | 95248186 | T | TTAAAAAT others(277): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01169.hp1 others(12): Show |
a0002a0006a0008 | a0002c0001a0006c0007a0008c0011 | a0002c0001t0004a0002c0001t0007a0002c0001t0010others(5): Show | a0002c0001t0004g0121 a0002c0001t0004g0140 a0002c0001t0004g0152 others(12): Show |
15 | 290 | 0.0517 | 284 | c.216 others(301): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPP1R9A_chr7_94902594_95301400 | 95248186 | T | TTAAAAAT others(277): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01106.hp1 others(39): Show |
a0001a0002a0006others(3): Show | a0001c0002a0002c0001a0002c0017others(4): Show | a0001c0002t0017a0002c0001t0001a0002c0001t0003others(17): Show | a0001c0002t0017g0003 a0002c0001t0001g0070 a0002c0001t0003g0069 others(39): Show |
42 | 290 | 0.1448 | 284 | c.216 others(301): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPP1R9A_chr7_94902594_95301400 | 95248186 | T | TTAAAAAT others(277): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0007 | a0006c0007t0011 | a0006c0007t0011g0191 | 1 | 290 | 0.0035 | 284 | c.216 others(301): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397569 | C | CTGTCATC others(277): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19084.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0187 a0001c0003t0002g0196 |
2 | 340 | 0.0059 | 284 | c.227 others(301): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163225 | G | GCGCAGAA others(277): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0170 | 1 | 210 | 0.0048 | 284 | c.38- others(301): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163225 | G | GCGCAGAA others(277): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0183 others(39): Show |
42 | 210 | 0.2000 | 284 | c.38- others(301): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163225 | G | GCGCAGAA others(277): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0081 | a0001c0004t0081g0031 | 1 | 210 | 0.0048 | 284 | c.38- others(301): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163322 | C | CGCAGAAG others(277): Show |
intron_variant | MODIFIER | HG02132.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0184 a0001c0001t0023g0112 |
2 | 210 | 0.0095 | 284 | c.38- others(301): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154196 | G | GAGGAGGG others(277): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0254 |
2 | 378 | 0.0053 | 284 | c.-44 others(295): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4451 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154196 | G | GAGGCGGG others(277): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 HG02080.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0236 a0001c0001t0002g0245 others(3): Show |
6 | 378 | 0.0159 | 284 | c.-44 others(295): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4451 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154196 | G | GAGGCGGG others(277): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 HG04228.hp1 NA18946.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0002a0006c0010t0002 | a0001c0001t0002g0235 a0001c0001t0002g0250 a0006c0010t0002g0243 |
3 | 378 | 0.0079 | 284 | c.-44 others(295): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4451 | chr13 | TogoVar | |||||||
RAI14_chr5_34651328_34837612 | 34665041 | A | ATATGTGT others(277): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03139.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0009 | a0001c0001t0007g0029 a0001c0003t0009g0028 |
2 | 254 | 0.0079 | 284 | c.-49 others(301): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114044176 | C | CCCCCCCC others(277): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0052 | 1 | 67 | 0.0149 | 284 | c.278 others(301): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RBCK1_chr20_403299_437139 | 420665 | G | GCCCACCC others(277): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0217 | 1 | 452 | 0.0022 | 284 | c.757 others(299): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RBM33_chr7_155639661_155786480 | 155673533 | T | TATACATA others(277): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0098 | a0001c0003t0098g0264 | 1 | 306 | 0.0033 | 284 | c.171 others(299): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RER1_chr1_2386841_2410436 | 2401350 | T | TCCCTCCC others(277): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 354 | 0.0028 | 284 | c.365 others(299): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759494 | T | TGTATGTA others(277): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 452 | 0.0022 | 284 | c.-23 others(295): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759512 | T | TGCATACA others(277): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 2 | 452 | 0.0044 | 284 | c.-23 others(295): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2103 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759523 | G | GTATGTGT others(277): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 284 | c.-23 others(295): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2114 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759586 | C | CATACGTA others(277): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 284 | c.-24 others(295): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2177 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759610 | C | CATACGTA others(277): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 284 | c.-24 others(295): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2201 | chr3 | TogoVar | |||||||
RGPD5_chr2_109789305_109862705 | 109794573 | A | ACCCGGCC others(277): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 40 | 0.0250 | 284 | c.72+ others(295): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RIPOR3_chr20_50581108_50696542 | 50666223 | T | TTTTCTTT others(277): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01433.hp2 |
a0001a0002 | a0001c0001a0001c0021a0002c0002 | a0001c0001t0001a0001c0021t0002a0002c0002t0002 | a0001c0001t0001g0068 a0001c0021t0002g0047 a0002c0002t0002g0062 |
3 | 280 | 0.0107 | 284 | c.3+2 others(299): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(277): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0323 | 1 | 396 | 0.0025 | 284 | c.807 others(301): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76800144 | T | TATACATG others(277): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02132.hp1 NA18939.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0109 others(1): Show |
4 | 312 | 0.0128 | 284 | c.611 others(299): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 7/31 | chr15 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGTTGGG others(277): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 290 | 0.0035 | 284 | c.464 others(297): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339728 | A | ATCCCCCC others(277): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0007 | a0007c0022 | a0007c0022t0082 | a0007c0022t0082g0073 | 1 | 280 | 0.0036 | 284 | c.89- others(297): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339728 | A | ATCCCCCC others(277): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0078 | 1 | 280 | 0.0036 | 284 | c.89- others(297): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACG others(277): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0010 | a0001c0010t0092 | a0001c0010t0092g0274 | 1 | 280 | 0.0036 | 284 | c.89- others(297): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACG others(277): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02886.hp2 others(2): Show |
a0001a0002a0004 | a0001c0006a0001c0023a0002c0009others(1): Show | a0001c0006t0086a0001c0023t0094a0002c0009t0089others(2): Show | a0001c0006t0086g0272 a0001c0023t0094g0271 a0002c0009t0089g0269 others(2): Show |
5 | 280 | 0.0179 | 284 | c.89- others(297): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48486242 | A | ATATTATA others(277): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 290 | 0.0035 | 284 | c.234 others(301): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48486344 | G | GTATTATA others(277): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19057.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 |
3 | 290 | 0.0103 | 284 | c.234 others(301): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402041 | G | GCCCCGCT others(277): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 242 | 0.0041 | 284 | c.*38 others(295): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3674 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 411273 | G | GGAGGGGT others(277): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 242 | 0.0041 | 284 | c.-15 others(303): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 411273 | G | GGGGCGGG others(277): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 242 | 0.0041 | 284 | c.-15 others(303): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGLEC14_chr19_51634478_51651825 | 51636051 | C | CTAATTTT others(277): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0077a0001c0002t0012a0001c0002t0063 | a0001c0001t0077g0141 a0001c0002t0012g0015 a0001c0002t0063g0106 |
3 | 300 | 0.0100 | 284 | c.*73 others(295): Show |
SIGLEC14 | ENSG00000254415.4 | transcript | ENST00000360844.7 | protein_coding | 3426 | chr19 | TogoVar | |||||||
SIGLEC14_chr19_51634478_51651825 | 51636051 | C | CTAATTTT others(277): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02155.hp1 HG02886.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0009a0001c0001t0021a0001c0001t0075others(8): Show | a0001c0001t0009g0007 a0001c0001t0009g0071 a0001c0001t0021g0011 others(9): Show |
14 | 300 | 0.0467 | 284 | c.*73 others(295): Show |
SIGLEC14 | ENSG00000254415.4 | transcript | ENST00000360844.7 | protein_coding | 3426 | chr19 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073218 | C | CCCCAGTG others(277): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0074 | 1 | 118 | 0.0085 | 284 | c.224 others(301): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 502907 | C | CGCCGTAA others(277): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104 |
3 | 218 | 0.0138 | 284 | c.212 others(303): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLCO5A1_chr8_69662046_69839978 | 69762118 | T | TTTTCTTT others(277): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0060 | 1 | 280 | 0.0036 | 284 | c.908 others(299): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168817997 | T | TAAAACCA others(277): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0050 | a0001c0050t0004 | a0001c0050t0004g0064 | 1 | 132 | 0.0076 | 284 | c.630 others(299): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 7/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168817997 | T | TAAAACCA others(277): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02486.hp1 HG02559.hp2 others(9): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0004a0001c0007others(7): Show | a0001c0003t0016a0001c0004t0006a0001c0004t0010others(9): Show | a0001c0003t0016g0007 a0001c0004t0006g0060 a0001c0004t0010g0131 others(9): Show |
12 | 132 | 0.0909 | 284 | c.630 others(299): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 7/35 | chr5 | TogoVar |