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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NLRP13_chr19_55890945_55937336 | 55930882 | A | ATATATAT others(171): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02155.hp1 HG04115.hp2 others(2): Show |
a0003a0018 | a0003c0006a0018c0051 | a0003c0006t0001a0018c0051t0001 | a0003c0006t0001g0192 a0003c0006t0001g0193 a0003c0006t0001g0226 others(2): Show |
5 | 440 | 0.0114 | 178 | c.319 others(195): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(171): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0069 | 1 | 440 | 0.0023 | 178 | c.319 others(193): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993492 | C | CCCCCCTC others(171): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0014 | a0014c0019 | a0014c0019t0011 | a0014c0019t0011g0164 | 1 | 350 | 0.0029 | 178 | c.*55 others(189): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4864 | chr19 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150541 | C | CACCACAC others(171): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0179 | 1 | 294 | 0.0034 | 178 | c.902 others(193): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162261473 | A | AGAGAGAG others(171): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0091 | 1 | 182 | 0.0055 | 178 | c.178 others(197): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18341405 | G | GGGGGAGC others(171): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0010 | 1 | 40 | 0.0250 | 178 | c.-50 others(189): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4670 | chr16 | TogoVar | |||||||
NT5C2_chr10_103083038_103198272 | 103129541 | C | CGCCCGGC others(171): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0184 | 1 | 340 | 0.0029 | 178 | c.175 others(195): Show |
NT5C2 | ENSG00000076685.19 | transcript | ENST00000404739.8 | protein_coding | 4/18 | chr10 | TogoVar | |||||||
NT5C2_chr10_103083038_103198272 | 103129541 | C | CGCCCGGC others(171): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0086 | 1 | 340 | 0.0029 | 178 | c.175 others(195): Show |
NT5C2 | ENSG00000076685.19 | transcript | ENST00000404739.8 | protein_coding | 4/18 | chr10 | TogoVar | |||||||
NT5C2_chr10_103083038_103198272 | 103129541 | C | CGCCCGGC others(171): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp2 others(78): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0002t0004a0001c0002t0005others(4): Show | a0001c0001t0005g0317 a0001c0001t0005g0323 a0001c0002t0004g0011 others(76): Show |
81 | 340 | 0.2382 | 178 | c.175 others(195): Show |
NT5C2 | ENSG00000076685.19 | transcript | ENST00000404739.8 | protein_coding | 4/18 | chr10 | TogoVar | |||||||
NT5C2_chr10_103083038_103198272 | 103129541 | C | CGCCCGGC others(171): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02683.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0187 a0001c0002t0006g0189 a0001c0002t0006g0190 |
3 | 340 | 0.0088 | 178 | c.175 others(195): Show |
NT5C2 | ENSG00000076685.19 | transcript | ENST00000404739.8 | protein_coding | 4/18 | chr10 | TogoVar | |||||||
NTSR1_chr20_62703836_62767771 | 62755465 | C | CCTCCATC others(171): Show |
intron_variant | MODIFIER | HG02155.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0140 a0001c0001t0009g0177 |
2 | 316 | 0.0063 | 178 | c.916 others(193): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739504 | C | CGGCTGGC others(171): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0196 | 1 | 378 | 0.0027 | 178 | c.-14 others(195): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739504 | C | CGGCTGGC others(171): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03834.hp1 HG04184.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0128 |
3 | 378 | 0.0079 | 178 | c.-14 others(195): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739662 | C | CGGGCAGG others(171): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0035 | 1 | 378 | 0.0027 | 178 | c.-14 others(195): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUSAP1_chr15_41327881_41386046 | 41383298 | T | TGCCCCTA others(171): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 292 | 0.0034 | 178 | c.*31 others(189): Show |
NUSAP1 | ENSG00000137804.14 | transcript | ENST00000559596.6 | protein_coding | 2253 | chr15 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78659304 | A | AAGAAAGA others(171): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 296 | 0.0034 | 178 | c.-18 others(187): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 150 | chr13 | TogoVar | |||||||
ODAD3_chr19_11415605_11440121 | 11425022 | C | CCTATGTG others(171): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 398 | 0.0025 | 178 | c.964 others(193): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | |||||||
ODAD3_chr19_11415605_11440121 | 11425022 | C | CCTATGTG others(171): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 398 | 0.0025 | 178 | c.964 others(193): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | |||||||
OPTN_chr10_13095163_13143308 | 13115253 | T | TTATATCT others(171): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 418 | 0.0024 | 178 | c.553 others(193): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OR4E1_chr14_21662886_21678818 | 21668334 | T | TCTTAAAT others(171): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00733.hp2 others(70): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0011a0005c0005others(3): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0034others(11): Show | a0002c0002t0004g0005 a0002c0002t0004g0034 a0002c0002t0005g0004 others(14): Show |
73 | 454 | 0.1608 | 178 | c.*16 others(189): Show |
OR4E1 | ENSG00000276240.4 | transcript | ENST00000641792.2 | protein_coding | 2/2 | 1653 | chr14 | TogoVar | ||||||
OR4E2_chr14_21648835_21672642 | 21668334 | T | TCTTAAAT others(171): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp1 others(68): Show |
a0001a0003 | a0001c0002a0003c0004a0003c0010 | a0001c0002t0001a0001c0002t0005a0001c0002t0008others(5): Show | a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 others(52): Show |
71 | 458 | 0.1550 | 178 | c.*23 others(189): Show |
OR4E2 | ENSG00000221977.3 | transcript | ENST00000641524.1 | protein_coding | 693 | chr14 | TogoVar | |||||||
OR4K2_chr14_19870142_19888932 | 19872471 | A | ATATATAC others(171): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0004 | 1 | 254 | 0.0039 | 178 | c.-36 others(189): Show |
OR4K2 | ENSG00000165762.3 | transcript | ENST00000641885.1 | protein_coding | 2670 | chr14 | TogoVar | |||||||
OR4K2_chr14_19870142_19888932 | 19872471 | A | ATATATAT others(171): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 NA18941.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0064 | a0001c0001t0003g0001 a0001c0001t0064g0001 |
3 | 254 | 0.0118 | 178 | c.-36 others(189): Show |
OR4K2 | ENSG00000165762.3 | transcript | ENST00000641885.1 | protein_coding | 2670 | chr14 | TogoVar | |||||||
OR52N2_chr11_5803924_5826483 | 5812330 | T | TAAAAATA others(171): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG02886.hp1 others(2): Show |
a0004a0009 | a0004c0005a0009c0009 | a0004c0005t0006a0009c0009t0001 | a0004c0005t0006g0019 a0004c0005t0006g0045 a0009c0009t0001g0042 |
5 | 402 | 0.0124 | 178 | c.-55 others(195): Show |
OR52N2 | ENSG00000180988.3 | transcript | ENST00000317037.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22637460 | C | CGCCTCTG others(171): Show |
intron_variant | MODIFIER | HG01433.hp1 HG04115.hp1 HG04184.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0037 | a0002c0002t0002g0039 a0002c0002t0002g0187 a0002c0002t0002g0200 others(1): Show |
4 | 362 | 0.0111 | 178 | c.-27 others(195): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637460 | C | CGCCTCTG others(171): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0235 | 1 | 362 | 0.0028 | 178 | c.-27 others(195): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637460 | C | CGCCTCTG others(171): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0079 | 1 | 362 | 0.0028 | 178 | c.-27 others(195): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637460 | C | CGCCTCTG others(171): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 | 1 | 362 | 0.0028 | 178 | c.-27 others(195): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637504 | G | GCCCGGCC others(171): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0167 | 1 | 362 | 0.0028 | 178 | c.-27 others(195): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637516 | G | GCCCCCGT others(171): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 362 | 0.0028 | 178 | c.-27 others(195): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637528 | A | AGGGGGGA others(171): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0229 | 1 | 362 | 0.0028 | 178 | c.-27 others(195): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22637535 | A | AGGGGGGG others(171): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 NA19074.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0147 a0002c0002t0002g0150 a0002c0002t0002g0158 |
3 | 362 | 0.0083 | 178 | c.-27 others(195): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(171): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0011 | 1 | 186 | 0.0054 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(171): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 186 | 0.0054 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(171): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG02027.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0002others(1): Show | a0001c0001t0001g0079 a0001c0002t0001g0123 a0001c0006t0002g0112 others(1): Show |
4 | 186 | 0.0215 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(171): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02698.hp1 HG04204.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0002c0003t0001 | a0001c0001t0002g0084 a0001c0002t0001g0051 a0002c0003t0001g0067 others(1): Show |
4 | 186 | 0.0215 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(171): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01516.hp2 HG02135.hp1 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0002others(3): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 others(10): Show |
13 | 186 | 0.0699 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(171): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0176 | 1 | 186 | 0.0054 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(171): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03130.hp2 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0141 a0001c0001t0001g0144 a0002c0003t0001g0126 |
3 | 186 | 0.0161 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(171): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0185 | 1 | 186 | 0.0054 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(171): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 186 | 0.0054 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(171): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0169 | 1 | 186 | 0.0054 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(171): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0172 | 1 | 186 | 0.0054 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(171): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0182 | 1 | 186 | 0.0054 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(171): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 186 | 0.0054 | 178 | c.537 others(197): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
PAX8_chr2_113210997_113283921 | 113236006 | A | ACCGGAGG others(171): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 300 | 0.0033 | 178 | c.899 others(193): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
PAX8_chr2_113210997_113283921 | 113236308 | G | GGCCTAGG others(171): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02071.hp1 HG02074.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0016 others(21): Show |
30 | 300 | 0.1000 | 178 | c.898 others(193): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
PAX8_chr2_113210997_113283921 | 113236378 | G | GGGCCCAC others(171): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0098 | 1 | 300 | 0.0033 | 178 | c.898 others(193): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54725550 | A | ATAATTAT others(171): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0011 | 1 | 102 | 0.0098 | 178 | c.-28 others(197): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54725550 | A | ATAATTAT others(171): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0011 | 1 | 94 | 0.0106 | 178 | c.-28 others(197): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar |