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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NCAPG2_chr7_158626169_158709804 | 158668100 | T | TCCTTACC others(608): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 161 | 0.0062 | 615 | c.148 others(634): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807573 | C | CCCCCTCA others(608): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 316 | 0.0032 | 615 | c.-17 others(626): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1619 | chr2 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535823 | G | GGGTGGGT others(608): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18990.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011 | a0001c0001t0002g0132 a0001c0001t0003g0215 a0001c0001t0011g0131 |
3 | 280 | 0.0107 | 615 | c.140 others(632): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NWD2_chr4_37239743_37454463 | 37330953 | G | GTACAATA others(608): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 216 | 0.0046 | 615 | c.240 others(632): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37331127 | A | ACCAGAAT others(608): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03579.hp2 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0002a0001c0015t0003 | a0001c0002t0002g0179 a0001c0015t0003g0064 |
2 | 291 | 0.0069 | 615 | c.240 others(632): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841591 | A | AGCAGGTC others(608): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 205 | 0.0049 | 615 | c.361 others(634): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981912 | A | ATGGTGGT others(608): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 287 | 0.0035 | 615 | c.255 others(634): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291608 | A | AGGAGGGG others(608): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 262 | 0.0038 | 615 | c.-27 others(624): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 206 | chr19 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(608): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0092 | 1 | 62 | 0.0161 | 615 | c.439 others(634): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122581 | G | GTCACGGT others(608): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0141 | 1 | 229 | 0.0044 | 615 | c.335 others(634): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRSS33_chr16_2778953_2792560 | 2787233 | C | CCCCTGTC others(608): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02486.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 a0002c0002t0001g0037 |
7 | 337 | 0.0208 | 615 | c.-58 others(630): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099675 | G | GCACCCCC others(608): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 52 | 0.0192 | 615 | c.56- others(632): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122866857 | T | TGGCCGCC others(608): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0142 | 1 | 245 | 0.0041 | 615 | c.132 others(634): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339728 | A | ATCCCCCC others(608): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0021 | a0001c0021t0004 | a0001c0021t0004g0073 | 1 | 247 | 0.0040 | 615 | c.89- others(628): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(608): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0065 | 1 | 192 | 0.0052 | 615 | c.89- others(628): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(608): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0018 | a0001c0018t0008 | a0001c0018t0008g0028 | 1 | 122 | 0.0082 | 615 | c.89- others(628): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339972 | A | AAAGCATA others(608): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0012 | a0001c0012t0090 | a0001c0012t0090g0277 | 1 | 276 | 0.0036 | 615 | c.89- others(628): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(608): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 230 | 0.0043 | 615 | c.115 others(632): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(608): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0015 a0001c0001t0013g0016 |
2 | 41 | 0.0488 | 615 | c.77- others(632): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(608): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0078 a0001c0001t0010g0079 |
2 | 46 | 0.0435 | 615 | c.22+ others(632): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(608): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 6 | 0.1667 | 615 | c.949 others(630): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | |||||||
SLC45A1_chr1_8313114_8349165 | 8322284 | A | ATGGATGG others(608): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0010a0001c0025 | a0001c0010t0001a0001c0010t0003a0001c0025t0001 | a0001c0010t0001g0032 a0001c0010t0001g0166 a0001c0010t0001g0167 others(3): Show |
8 | 380 | 0.0211 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322284 | A | ATGGGCGG others(608): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200 | 1 | 373 | 0.0027 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322288 | A | ATGGATGG others(608): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02602.hp1 HG02895.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0026a0002c0004others(1): Show | a0001c0001t0001a0001c0026t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0026t0001g0164 others(6): Show |
9 | 353 | 0.0255 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322288 | A | ATGGATGG others(608): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 345 | 0.0029 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322288 | A | ATGGATGG others(608): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 345 | 0.0029 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGATGG others(608): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0257 | 1 | 327 | 0.0031 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGGCGG others(608): Show |
intron_variant | MODIFIER | NA18939.hp2 NA20752.hp2 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0001a0002c0004t0001 | a0001c0005t0001g0284 a0002c0004t0001g0283 |
2 | 328 | 0.0061 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGGCGG others(608): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0159 a0001c0003t0001g0160 |
2 | 328 | 0.0061 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322296 | A | ATGGGCGG others(608): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03041.hp1 HG03471.hp1 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0001a0001c0017t0001 | a0001c0003t0001g0031 a0001c0017t0001g0161 |
3 | 317 | 0.0095 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322296 | A | ATGGGCGG others(608): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0003t0003a0001c0008t0005 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0003g0014 others(4): Show |
9 | 323 | 0.0279 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322296 | A | ATGGGCGG others(608): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00673.hp2 others(48): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0034 a0001c0001t0001g0235 a0001c0001t0001g0251 others(36): Show |
51 | 365 | 0.1397 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322300 | A | ATGGGCGG others(608): Show |
intron_variant | MODIFIER | HG03688.hp1 NA18988.hp2 NA19043.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001 | a0001c0002t0001g0194 a0001c0002t0002g0220 a0001c0003t0001g0219 |
3 | 386 | 0.0078 | 615 | c.-24 others(632): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168653588 | A | AATGTTAG others(608): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 178 | 0.0056 | 615 | c.128 others(632): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168653817 | T | TACCTGAG others(608): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0005 | 1 | 90 | 0.0111 | 615 | c.128 others(632): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPACA5B_chrX_48125626_48137620 | 48134939 | C | CTTTGGGA others(608): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 312 | 0.0032 | 615 | c.*24 others(626): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2320 | chrX | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48736491 | C | CCCCCCAG others(608): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 235 | 0.0043 | 615 | c.391 others(634): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1627878 | G | GGGGGTGA others(608): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0084 | a0001c0003t0084g0298 | 1 | 305 | 0.0033 | 615 | c.299 others(630): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629080 | G | GGTGGGAA others(608): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0004 | a0001c0004t0097 | a0001c0004t0097g0341 | 1 | 337 | 0.0030 | 615 | c.299 others(632): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242951 | C | CCCACCGC others(608): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 204 | 0.0049 | 615 | c.695 others(630): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(608): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 8 | 0.1250 | 615 | c.424 others(632): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GTTAGGGA others(608): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 166 | 0.0060 | 615 | c.*49 others(626): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507168 | C | CATACGTA others(608): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 329 | 0.0030 | 615 | c.-23 others(632): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(608): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 298 | 0.0034 | 615 | c.-23 others(632): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273422 | A | AAAAATAT others(608): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 270 | 0.0037 | 615 | c.*29 others(626): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2309 | chr11 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028600 | C | CCCCCATC others(608): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03139.hp2 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0198 a0005c0005t0002g0199 |
2 | 217 | 0.0092 | 615 | c.225 others(634): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19919230 | T | TTGTCACC others(608): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03041.hp1 HG03225.hp2 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0007 a0003c0006t0002g0096 |
3 | 370 | 0.0081 | 615 | c.230 others(630): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(608): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00738.hp1 others(22): Show |
a0003a0004a0005others(1): Show | a0003c0003a0003c0006a0004c0008others(2): Show | a0003c0003t0001a0003c0006t0002a0003c0006t0003others(3): Show | a0003c0003t0001g0162 a0003c0003t0001g0306 a0003c0003t0001g0307 others(22): Show |
25 | 291 | 0.0859 | 615 | c.230 others(630): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(608): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01952.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0153 a0001c0001t0001g0261 a0001c0001t0001g0287 others(6): Show |
9 | 275 | 0.0327 | 615 | c.230 others(630): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(608): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0026 | 1 | 267 | 0.0037 | 615 | c.230 others(630): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar |