regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTC39C_chr18_24009754_24140600 | 24045927 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 328 | 0.0031 | 40 | c.168 others(59): Show |
TTC39C | ENSG00000168234.13 | transcript | ENST00000317571.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
TTC5_chr14_20281227_20310951 | 20300143 | G | GTGTGTAT others(33): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0093 | 1 | 416 | 0.0024 | 40 | c.396 others(55): Show |
TTC5 | ENSG00000136319.12 | transcript | ENST00000258821.8 | protein_coding | 3/9 | chr14 | TogoVar | ||||||
TTC5_chr14_20281227_20310951 | 20300143 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0146 | 1 | 416 | 0.0024 | 40 | c.396 others(55): Show |
TTC5 | ENSG00000136319.12 | transcript | ENST00000258821.8 | protein_coding | 3/9 | chr14 | TogoVar | ||||||
TTC6_chr14_37590629_37847717 | 37794542 | G | GAAACTGA others(33): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19030.hp2 |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0009 | a0003c0003t0005g0118a0003c0003t0009g0091 | 2 | 220 | 0.0091 | 40 | c.370 others(57): Show |
TTC6 | ENSG00000139865.17 | transcript | ENST00000553443.6 | protein_coding | 19/32 | chr14 | TogoVar | ||||||
TTC7B_chr14_90519564_90821430 | 90780470 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01123.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0069a0001c0001t0096a0001c0002t0017others(9): Show | a0001c0001t0069g0026a0001c0001t0096g0024a0001c0002t0017g0085others(10): Show | 13 | 200 | 0.0650 | 40 | c.445 others(55): Show |
TTC7B | ENSG00000165914.15 | transcript | ENST00000328459.11 | protein_coding | 3/19 | chr14 | TogoVar | ||||||
TTLL11_chr9_121810674_122098308 | 121838781 | A | AAAGCAAG others(33): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 174 | 0.0058 | 40 | c.184 others(61): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 8/8 | chr9 | TogoVar | ||||||
TTLL12_chr22_43161622_43192134 | 43187183 | C | CCTCCCCG others(33): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0031 | a0001c0031t0010 | a0001c0031t0010g0364 | 1 | 394 | 0.0025 | 40 | c.-11 others(49): Show |
TTLL12 | ENSG00000100304.13 | transcript | ENST00000216129.7 | protein_coding | 50 | chr22 | TogoVar | ||||||
TTLL5_chr14_75656246_75960079 | 75914033 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02976.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0113a0002c0003t0002g0197 | 2 | 198 | 0.0101 | 40 | c.382 others(61): Show |
TTLL5 | ENSG00000119685.20 | transcript | ENST00000298832.14 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TTLL5_chr14_75656246_75960079 | 75925499 | C | CGGGCAGA others(33): Show |
intron_variant | MODIFIER | NA18940.hp2 NA19003.hp2 NA19088.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0142a0002c0005t0001g0143a0002c0005t0001g0182 | 3 | 198 | 0.0152 | 40 | c.382 others(61): Show |
TTLL5 | ENSG00000119685.20 | transcript | ENST00000298832.14 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TTLL7_chr1_83860024_84004132 | 83892229 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03225.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182a0001c0001t0002g0205 | 2 | 302 | 0.0066 | 40 | c.220 others(59): Show |
TTLL7 | ENSG00000137941.17 | transcript | ENST00000260505.13 | protein_coding | 18/20 | chr1 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50061925 | C | CCTGGCTC others(33): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0215 | 1 | 224 | 0.0045 | 40 | c.-38 others(51): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 3628 | chr22 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50062188 | T | TCCACCCT others(33): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0028 | a0005c0028t0002 | a0005c0028t0002g0194 | 1 | 224 | 0.0045 | 40 | c.-40 others(51): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 3891 | chr22 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50062222 | C | CAGCCGCC others(33): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02004.hp1 HG03688.hp1 others(1): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0001 | a0002c0002t0002g0127a0004c0004t0001g0124a0004c0004t0001g0125others(1): Show | 4 | 224 | 0.0179 | 40 | c.-41 others(51): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 3925 | chr22 | TogoVar | ||||||
TTLL9_chr20_31865634_31950000 | 31887855 | C | CCTCTTCT others(33): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02970.hp2 HG03579.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0023others(1): Show | a0001c0001t0002g0183a0001c0001t0002g0259a0001c0001t0003g0034others(4): Show | 7 | 264 | 0.0265 | 40 | c.113 others(55): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTLL9_chr20_31865634_31950000 | 31890150 | C | CTTCTTTC others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0164a0001c0002t0001g0120 | 2 | 264 | 0.0076 | 40 | c.113 others(57): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTLL9_chr20_31865634_31950000 | 31890154 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0231 | 1 | 264 | 0.0038 | 40 | c.113 others(57): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTLL9_chr20_31865634_31950000 | 31890154 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02895.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054a0001c0002t0001g0197 | 2 | 264 | 0.0076 | 40 | c.113 others(57): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTLL9_chr20_31865634_31950000 | 31890154 | C | CTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0115a0001c0001t0002g0131a0001c0001t0003g0239others(1): Show | 4 | 264 | 0.0152 | 40 | c.113 others(57): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTLL9_chr20_31865634_31950000 | 31890154 | C | CTTCTTTC others(33): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01261.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0172a0001c0002t0001g0213a0001c0002t0001g0245 | 3 | 264 | 0.0114 | 40 | c.113 others(57): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTN_chr2_178520989_178812423 | 178677335 | C | CATATACA others(33): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0143 | a0143c0103 | a0143c0103t0001 | a0143c0103t0001g0171 | 1 | 242 | 0.0041 | 40 | c.342 others(57): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 146/362 | chr2 | TogoVar | ||||||
TTYH3_chr7_2626986_2669802 | 2627487 | T | TGGAGGGA others(33): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0191a0001c0001t0001g0339a0001c0001t0005g0192others(3): Show | 6 | 402 | 0.0149 | 40 | c.-46 others(51): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 4498 | chr7 | TogoVar | ||||||
TUBA1B_chr12_49122782_49136395 | 49123757 | A | ATTTTTTT others(33): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 NA19006.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0002a0001c0011t0001g0035 | 2 | 384 | 0.0052 | 40 | c.*42 others(51): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 4024 | chr12 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23016969 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 | 1 | 351 | 0.0029 | 40 | c.175 others(57): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 13/22 | chr15 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23016969 | G | GATATGTA others(33): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0260 | 1 | 351 | 0.0029 | 40 | c.175 others(57): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 13/22 | chr15 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23016986 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02056.hp1 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207a0001c0001t0001g0218a0001c0001t0001g0245 | 3 | 351 | 0.0086 | 40 | c.175 others(57): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 13/22 | chr15 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158453485 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0217 | 1 | 268 | 0.0037 | 40 | c.859 others(57): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TUSC3_chr8_15535263_15771638 | 15738827 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0235 | 1 | 372 | 0.0027 | 40 | c.863 others(57): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
TVP23A_chr16_10761675_10823794 | 10820478 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 410 | 0.0024 | 40 | c.-19 others(51): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1685 | chr16 | TogoVar | ||||||
TVP23A_chr16_10761675_10823794 | 10820478 | A | ATATATGT others(33): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01256.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0176a0001c0001t0002g0153a0001c0001t0003g0148others(3): Show | 6 | 410 | 0.0146 | 40 | c.-19 others(51): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1685 | chr16 | TogoVar | ||||||
TVP23A_chr16_10761675_10823794 | 10820478 | A | ATATGTAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00735.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0180a0001c0001t0001g0213a0001c0001t0001g0238others(21): Show | 24 | 410 | 0.0585 | 40 | c.-19 others(51): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1685 | chr16 | TogoVar | ||||||
TVP23A_chr16_10761675_10823794 | 10820478 | A | ATATGTAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02015.hp1 HG02129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0127a0001c0001t0002g0184a0001c0001t0002g0187others(1): Show | 4 | 410 | 0.0098 | 40 | c.-19 others(51): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1685 | chr16 | TogoVar | ||||||
TVP23A_chr16_10761675_10823794 | 10820480 | A | ATATGTAT others(33): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0291 | 1 | 410 | 0.0024 | 40 | c.-19 others(51): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1687 | chr16 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870299 | C | CCACACAC others(33): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0321 | 2 | 338 | 0.0059 | 40 | c.*35 others(59): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870487 | C | CCACACAC others(33): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 338 | 0.0030 | 40 | c.*35 others(59): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TXK_chr4_48061393_48139250 | 48084823 | A | AGAGAATG others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0002g0197a0001c0001t0002g0198a0001c0001t0002g0205others(51): Show | 60 | 362 | 0.1658 | 40 | c.956 others(57): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 10/14 | chr4 | TogoVar | ||||||
TXK_chr4_48061393_48139250 | 48084842 | T | TCGAGAAT others(33): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0255 | 1 | 362 | 0.0028 | 40 | c.956 others(57): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 10/14 | chr4 | TogoVar | ||||||
TXK_chr4_48061393_48139250 | 48084844 | G | GAGAATGG others(33): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02257.hp1 others(14): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0178a0001c0005t0001g0004a0001c0005t0001g0022others(12): Show | 17 | 362 | 0.0470 | 40 | c.956 others(57): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 10/14 | chr4 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0108 | 1 | 302 | 0.0033 | 40 | c.243 others(57): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TXNRD1_chr12_104210779_104355307 | 104267241 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0288 | 1 | 302 | 0.0033 | 40 | c.304 others(57): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TXNRD1_chr12_104210779_104355307 | 104267241 | C | CTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01952.hp2 HG02055.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0047a0001c0001t0001g0053a0001c0001t0001g0085others(10): Show | 13 | 302 | 0.0431 | 40 | c.304 others(57): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TXNRD1_chr12_104210779_104355307 | 104267283 | C | CTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0218 | 1 | 302 | 0.0033 | 40 | c.304 others(57): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104267649 | C | CTTTCCTT others(33): Show |
intron_variant | MODIFIER | HG03834.hp1 HG04184.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0089a0001c0004t0003g0279 | 2 | 302 | 0.0066 | 40 | c.304 others(57): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TYK2_chr19_10345533_10385572 | 10377536 | A | ATGGATGG others(33): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0055 | 1 | 376 | 0.0027 | 40 | c.193 others(55): Show |
TYK2 | ENSG00000105397.15 | transcript | ENST00000525621.6 | protein_coding | 3/24 | chr19 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67029413 | G | GTATATAC others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0363 | 1 | 364 | 0.0028 | 40 | c.984 others(57): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TYW1_chr7_66991833_67244514 | 67210764 | G | GTCCGTCC others(33): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0005 | 1 | 364 | 0.0028 | 40 | c.197 others(61): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UACA_chr15_70649554_70768558 | 70712051 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01361.hp1 HG02015.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0013 | a0001c0003t0002g0006a0001c0003t0002g0018a0001c0003t0002g0027others(3): Show | 6 | 310 | 0.0194 | 40 | c.79- others(57): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70735147 | T | TAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0297a0006c0010t0003g0298 | 2 | 310 | 0.0065 | 40 | c.78+ others(57): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99242799 | T | TGGCTGCC others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(356): Show | 360 | 380 | 0.9474 | 40 | c.160 others(57): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UBAP1_chr9_34174043_34257523 | 34202624 | C | CCTGTGTG others(33): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01361.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0005g0273 | 3 | 342 | 0.0088 | 40 | c.-7- others(57): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34226111 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0338 | 1 | 342 | 0.0029 | 40 | c.34+ others(55): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |