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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NT5DC3_chr12_103767310_103846234 | 103768644 | A | AGGGAGGG others(389): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 383 | 0.0026 | 396 | c.*91 others(407): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3665 | chr12 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948876 | T | TCCCCCCT others(389): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0238 | 1 | 72 | 0.0139 | 396 | c.360 others(415): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 27930644 | A | AGCTTGCC others(389): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01255.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0008a0001c0035others(5): Show | a0001c0006t0001a0001c0008t0001a0001c0035t0001others(5): Show | a0001c0006t0001g0003 a0001c0006t0001g0004 a0001c0006t0001g0039 others(16): Show |
19 | 106 | 0.1792 | 396 | c.195 others(415): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 18/23 | chr15 | TogoVar | |||||||
OR1F1_chr16_3183204_3211556 | 3198013 | G | GGGAGAAG others(389): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 143 | 0.0070 | 396 | c.-12 others(413): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(389): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0167 | 1 | 148 | 0.0068 | 396 | c.292 others(411): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(389): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 148 | 0.0068 | 396 | c.292 others(411): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(389): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0096 | a0096c0081 | a0096c0081t0001 | a0096c0081t0001g0010 | 1 | 148 | 0.0068 | 396 | c.292 others(411): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(389): Show |
intron_variant | MODIFIER | NA19057.hp2 NA19063.hp1 |
a0001a0034 | a0001c0001a0034c0089 | a0001c0001t0001a0034c0089t0001 | a0001c0001t0001g0231 a0034c0089t0001g0232 |
2 | 149 | 0.0134 | 396 | c.292 others(411): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(389): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02735.hp2 HG03654.hp2 |
a0001a0004 | a0001c0001a0004c0050 | a0001c0001t0001a0004c0050t0001 | a0001c0001t0001g0153 a0001c0001t0001g0235 a0004c0050t0001g0110 |
3 | 150 | 0.0200 | 396 | c.292 others(411): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344665 | A | AGGGGATT others(389): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 337 | 0.0030 | 396 | c.4-1 others(409): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909791 | C | CCCCCCCC others(389): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 250 | 0.0040 | 396 | c.471 others(411): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923788 | A | ATAGAAAC others(389): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0284 | 1 | 281 | 0.0036 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923820 | C | CGAGGAGA others(389): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 a0001c0001t0003g0057 |
2 | 256 | 0.0078 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923952 | C | CGAGGAGA others(389): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 255 | 0.0039 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924018 | C | CGAGGAGA others(389): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0016a0001c0002t0004others(1): Show | a0001c0001t0012g0031 a0001c0001t0016g0011 a0001c0002t0004g0004 others(7): Show |
10 | 177 | 0.0565 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924094 | T | TGAACACT others(389): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 186 | 0.0054 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924245 | C | CGTGGATA others(389): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 262 | 0.0038 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924299 | C | CGGGAACA others(389): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 273 | 0.0037 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924358 | C | CGAACACT others(389): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 | 1 | 224 | 0.0045 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924480 | T | TGAGGAGA others(389): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 219 | 0.0046 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924688 | C | CGAACACC others(389): Show |
intron_variant | MODIFIER | NA18941.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 a0001c0001t0002g0271 |
2 | 238 | 0.0084 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924844 | G | GTAGAAAC others(389): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02735.hp2 NA18942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 a0001c0001t0003g0082 a0001c0001t0003g0083 others(3): Show |
6 | 175 | 0.0343 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924844 | G | GTAGAAAC others(389): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 170 | 0.0059 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925140 | T | TGAGGAGA others(389): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0290 | 1 | 115 | 0.0087 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925140 | T | TGAGGAGA others(389): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02698.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0269 |
3 | 117 | 0.0256 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925150 | C | CGAACACC others(389): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113 | 1 | 256 | 0.0039 | 396 | c.718 others(413): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(389): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 321 | 0.0031 | 396 | c.-26 others(407): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(389): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0323 | 1 | 118 | 0.0085 | 396 | c.*35 others(407): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20612651 | A | ATATATAA others(389): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0148 | a0001c0001t0148g0048 | 1 | 174 | 0.0057 | 396 | c.101 others(413): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132718575 | G | GGTCCTGG others(389): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0180 | 1 | 135 | 0.0074 | 396 | c.719 others(411): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLIN4_chr19_4497192_4523486 | 4511211 | C | CGCCGGTC others(389): Show |
conservative_inframe_insertion | MODERATE | HG02559.hp2 | a0002 | a0002c0055 | a0002c0055t0004 | a0002c0055t0004g0080 | 1 | 398 | 0.0025 | 396 | c.274 others(405): Show |
p.Gly others(409): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2867/6502 | 2748/4116 | 916/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511211 | C | CGCCGGTC others(389): Show |
conservative_inframe_insertion | MODERATE | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(6): Show |
a0002a0013a0047 | a0002c0010a0002c0054a0013c0053others(1): Show | a0002c0010t0001a0002c0010t0007a0002c0010t0014others(3): Show | a0002c0010t0001g0088 a0002c0010t0007g0091 a0002c0010t0007g0092 others(6): Show |
9 | 406 | 0.0222 | 396 | c.274 others(405): Show |
p.Gly others(409): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2867/6502 | 2748/4116 | 916/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511211 | C | CGCCGGTC others(389): Show |
conservative_inframe_insertion | MODERATE | HG03098.hp2 HG03209.hp1 |
a0018 | a0018c0038 | a0018c0038t0013 | a0018c0038t0013g0265 a0018c0038t0013g0266 |
2 | 399 | 0.0050 | 396 | c.274 others(405): Show |
p.Gly others(409): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2867/6502 | 2748/4116 | 916/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511211 | C | CGCCGGTC others(389): Show |
conservative_inframe_insertion | MODERATE | HG06807.hp2 | a0040 | a0040c0105 | a0040c0105t0030 | a0040c0105t0030g0267 | 1 | 398 | 0.0025 | 396 | c.274 others(405): Show |
p.Gly others(409): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2867/6502 | 2748/4116 | 916/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511338 | T | TTTCGCAG others(389): Show |
disruptive_inframe_insertion | MODERATE | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(5): Show |
a0002a0003a0013others(4): Show | a0002c0005a0002c0049a0003c0075others(5): Show | a0002c0005t0004a0002c0049t0033a0003c0075t0004others(5): Show | a0002c0005t0004g0062 a0002c0049t0033g0273 a0003c0075t0004g0079 others(5): Show |
8 | 173 | 0.0462 | 396 | c.262 others(405): Show |
p.Ala others(409): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2740/6502 | 2621/4116 | 874/1371 | chr19 | TogoVar | |||
PLPP2_chr19_276043_296403 | 291604 | G | GGGGAGGA others(389): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 273 | 0.0037 | 396 | c.-26 others(405): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 202 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(389): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 113 | 0.0088 | 396 | c.-27 others(405): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(389): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG02083.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0034 others(2): Show |
5 | 117 | 0.0427 | 396 | c.-27 others(405): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(389): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 113 | 0.0088 | 396 | c.-27 others(405): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(389): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 113 | 0.0088 | 396 | c.-27 others(405): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(389): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 113 | 0.0088 | 396 | c.-27 others(405): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(389): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 113 | 0.0088 | 396 | c.-27 others(405): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGG others(389): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02129.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0002g0008 a0001c0001t0002g0018 others(2): Show |
5 | 117 | 0.0427 | 396 | c.-27 others(405): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2122498 | C | CAGCGATA others(389): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0273 | 1 | 166 | 0.0060 | 396 | c.335 others(415): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2124353 | C | CTGTAGTT others(389): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 62 | 0.0161 | 396 | c.335 others(415): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42509471 | A | ATAATTTA others(389): Show |
intron_variant | MODIFIER | HG00738.hp2 NA21309.hp2 |
a0001 | a0001c0018a0001c0025 | a0001c0018t0003a0001c0025t0015 | a0001c0018t0003g0030 a0001c0025t0015g0028 |
2 | 61 | 0.0328 | 396 | c.115 others(417): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PTTG1IP_chr21_44844598_44878690 | 44863127 | G | GACACAGC others(389): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0091 | 1 | 442 | 0.0023 | 396 | c.169 others(413): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132392570 | A | ATGGTGAT others(389): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 328 | 0.0030 | 396 | c.-46 others(407): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4629 | chr10 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 467960 | T | TGGGGCCT others(389): Show |
intron_variant | MODIFIER | NA18984.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0052 | a0001c0001t0008g0064 a0001c0001t0052g0063 |
2 | 247 | 0.0081 | 396 | c.809 others(413): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114073517 | A | AGGAAAAT others(389): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03471.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0011t0001g0045 |
3 | 17 | 0.1765 | 396 | c.173 others(411): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar |