| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(670): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0111 a0004c0009t0005g0112 |
2 | 65 | 0.0308 | 677 | c.166 others(696): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(670): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0156 | 1 | 118 | 0.0085 | 677 | c.-75 others(696): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136528441 | A | AGGGGGGG others(670): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0025 | a0001c0025t0016 | a0001c0025t0016g0170 | 1 | 242 | 0.0041 | 677 | c.141 others(694): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| PCBP3_chr21_45638725_45947450 | 45797870 | A | ATCAACAG others(670): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0265 | 1 | 290 | 0.0034 | 677 | c.-12 others(698): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45909737 | T | TGGCCCAC others(670): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0162 | 1 | 287 | 0.0035 | 677 | c.471 others(692): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(670): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19001.hp1 NA19054.hp1 |
a0001a0002a0046 | a0001c0002a0002c0080a0046c0081 | a0001c0002t0001a0002c0080t0002a0046c0081t0001 | a0001c0002t0001g0107 a0002c0080t0002g0121 a0046c0081t0001g0124 |
3 | 95 | 0.0316 | 677 | c.575 others(698): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
| RAB11FIP3_chr16_420649_528011 | 492360 | T | TCTTCCCG others(670): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0007 | a0004c0007t0022 | a0004c0007t0022g0185 | 1 | 234 | 0.0043 | 677 | c.126 others(696): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 492360 | T | TCTTCCCG others(670): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 234 | 0.0043 | 677 | c.126 others(696): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 492425 | C | CCCCGGGG others(670): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0273 | 1 | 248 | 0.0040 | 677 | c.126 others(696): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136803085 | C | CCCCCCAG others(670): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0002 | 2 | 328 | 0.0061 | 677 | c.-51 others(688): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4862 | chr9 | TogoVar | |||||||
| RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(670): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 187 | 0.0053 | 677 | c.-50 others(688): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | |||||||
| RBBP8_chr18_22928328_23031486 | 23022651 | T | TAAAATAA others(670): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0287 | 1 | 209 | 0.0048 | 677 | c.259 others(694): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| RND2_chr17_43020231_43037041 | 43024257 | A | AATCTCGG others(670): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 155 | 0.0065 | 677 | c.-10 others(688): Show |
RND2 | ENSG00000108830.11 | transcript | ENST00000587250.4 | protein_coding | 973 | chr17 | TogoVar | |||||||
| RND2_chr17_43020231_43037041 | 43024257 | A | AATCTCGG others(670): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0009 a0001c0001t0012g0007 |
2 | 156 | 0.0128 | 677 | c.-10 others(688): Show |
RND2 | ENSG00000108830.11 | transcript | ENST00000587250.4 | protein_coding | 973 | chr17 | TogoVar | |||||||
| RND2_chr17_43020231_43037041 | 43024257 | A | AATCTCGG others(670): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(23): Show |
47 | 201 | 0.2338 | 677 | c.-10 others(688): Show |
RND2 | ENSG00000108830.11 | transcript | ENST00000587250.4 | protein_coding | 973 | chr17 | TogoVar | |||||||
| RND2_chr17_43020231_43037041 | 43024257 | A | AATCTCGG others(670): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02622.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0003g0001 others(1): Show |
4 | 158 | 0.0253 | 677 | c.-10 others(688): Show |
RND2 | ENSG00000108830.11 | transcript | ENST00000587250.4 | protein_coding | 973 | chr17 | TogoVar | |||||||
| SEL1L2_chr20_13844247_13995614 | 13934330 | T | TATATATA others(670): Show |
intron_variant | MODIFIER | NA18998.hp1 NA19001.hp2 NA19002.hp1 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0085 a0004c0006t0001g0086 a0004c0006t0001g0088 others(1): Show |
4 | 322 | 0.0124 | 677 | c.115 others(694): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(670): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 230 | 0.0043 | 677 | c.115 others(694): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(670): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 230 | 0.0043 | 677 | c.115 others(694): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(670): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 40 | 0.0250 | 677 | c.77- others(694): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77356681 | C | CCCCCTCC others(670): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 117 | 0.0085 | 677 | c.77- others(694): 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(670): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 45 | 0.0222 | 677 | c.22+ others(694): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 | 1 | 38 | 0.0263 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01361.hp1 HG02083.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 others(8): Show |
11 | 48 | 0.2292 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 a0001c0001t0003g0162 |
2 | 39 | 0.0513 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 38 | 0.0263 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02109.hp1 HG02258.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0054 others(12): Show |
15 | 52 | 0.2885 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 38 | 0.0263 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0163 | 1 | 38 | 0.0263 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | 39 | 0.0513 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0122 a0001c0001t0006g0070 a0001c0001t0006g0091 others(1): Show |
4 | 41 | 0.0976 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 38 | 0.0263 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0113 |
2 | 39 | 0.0513 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 38 | 0.0263 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(670): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(83): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(82): Show |
86 | 123 | 0.6992 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SESN1_chr6_108979309_109099846 | 109047042 | G | GGGGGGTC others(670): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02818.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0005 | a0001c0001t0013g0015 a0001c0004t0005g0022 a0001c0004t0005g0023 |
3 | 180 | 0.0167 | 677 | c.280 others(696): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
| SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(670): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 4 | 0.5000 | 677 | c.*12 others(688): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
| SPATA6_chr1_48290373_48477204 | 48384417 | A | AGGGAGAG others(670): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 320 | 0.0031 | 677 | c.909 others(692): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
| STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(670): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0216 | 1 | 3 | 0.3333 | 677 | c.597 others(694): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
| TBC1D22A_chr22_46757650_47180693 | 47128216 | C | CCATCCTC others(670): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 7 | 0.1429 | 677 | c.142 others(698): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAACTC others(670): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0214 | 1 | 174 | 0.0057 | 677 | c.299 others(694): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| TERT_chr5_1248167_1300068 | 1273104 | G | GCCATCCA others(670): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0345 | 1 | 356 | 0.0028 | 677 | c.228 others(694): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
| TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(670): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0112 | a0002c0003t0112g0156 | 1 | 126 | 0.0079 | 677 | c.*54 others(688): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | |||||||
| TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(670): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0112 | 1 | 10 | 0.1000 | 677 | c.-25 others(696): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| TRPM2_chr21_44348621_44447644 | 44410055 | G | GCACTGTC others(670): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0008 | a0008c0009 | a0008c0009t0008 | a0008c0009t0008g0043 | 1 | 42 | 0.0238 | 677 | c.296 others(696): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204100 | T | TATACTAT others(670): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0003 | a0002c0003t0038 | a0002c0003t0038g0031 | 1 | 141 | 0.0071 | 677 | c.41- others(694): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238870196 | A | ATACACAC others(670): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 121 | 0.0083 | 677 | c.*35 others(696): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
| TXNDC16_chr14_52425596_52557505 | 52530406 | A | ATTATATA others(670): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 229 | 0.0044 | 677 | c.392 others(694): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
| TXNDC16_chr14_52425596_52557505 | 52530408 | T | TATATATT others(670): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 223 | 0.0045 | 677 | c.392 others(694): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
| UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(670): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 115 | 0.0087 | 677 | c.246 others(696): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |