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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(673): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 680 | c.-26 others(691): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(673): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 680 | c.-26 others(691): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(673): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 360 | 0.0028 | 680 | c.*35 others(691): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | ||||||
POLR2C_chr16_57457679_57477009 | 57458501 | G | GCCAAAGT others(673): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | 680 | c.-42 others(691): Show |
POLR2C | ENSG00000102978.13 | transcript | ENST00000219252.10 | protein_coding | 4177 | chr16 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3181307 | C | CGGCCTTA others(673): Show |
intron_variant | MODIFIER | HG02698.hp2 HG02738.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0075 | a0001c0001t0001g0096a0002c0003t0075g0084 | 2 | 210 | 0.0095 | 680 | c.38- others(695): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3181307 | C | CGGCCTTA others(673): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0199 | 1 | 210 | 0.0048 | 680 | c.38- others(695): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3181307 | C | CGGCCTTA others(673): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0186 | 1 | 210 | 0.0048 | 680 | c.38- others(695): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24109274 | C | CGGGCGGG others(673): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0102 | 1 | 148 | 0.0068 | 680 | c.822 others(697): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(673): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 295 | 0.0034 | 680 | c.126 others(699): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(673): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146a0001c0002t0002g0152 | 2 | 295 | 0.0068 | 680 | c.126 others(699): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(673): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0042 | 1 | 330 | 0.0030 | 680 | c.-50 others(691): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114080987 | T | TCGGCAGA others(673): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0001a0002c0004t0004g0029 | 2 | 67 | 0.0299 | 680 | c.56- others(695): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348440 | A | AAAAAAAG others(673): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 276 | 0.0036 | 680 | c.132 others(697): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AAGCTGAG others(673): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0251 | 1 | 384 | 0.0026 | 680 | c.157 others(699): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934373 | C | CATATATA others(673): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 324 | 0.0031 | 680 | c.115 others(697): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934373 | C | CATATATA others(673): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 324 | 0.0031 | 680 | c.115 others(697): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SESN1_chr6_108979309_109099846 | 109047041 | T | TGGGGGGT others(673): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 184 | 0.0054 | 680 | c.280 others(699): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44302613 | T | TAGCAGGG others(673): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0251 | a0001c0251t0002 | a0001c0251t0002g0224 | 1 | 380 | 0.0026 | 680 | c.-32 others(697): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608743 | T | TAGCATAG others(673): Show |
intron_variant | MODIFIER | HG04228.hp1 NA19068.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0010a0003c0003t0001 | a0002c0002t0010g0215a0003c0003t0001g0085 | 2 | 218 | 0.0092 | 680 | c.323 others(699): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMYD3_chr1_245744347_246512279 | 246072180 | T | TTAGTTCT others(673): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 150 | 0.0067 | 680 | c.532 others(701): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89535939 | G | GTGTGGCC others(673): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02129.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0194a0001c0001t0001g0211 | 3 | 358 | 0.0084 | 680 | c.132 others(699): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852655 | G | GATCCCAT others(673): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0009 | a0009c0025 | a0009c0025t0002 | a0009c0025t0002g0039 | 1 | 356 | 0.0028 | 680 | c.646 others(697): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852655 | G | GATCCCAT others(673): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035 | 1 | 356 | 0.0028 | 680 | c.646 others(697): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(673): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 268 | 0.0037 | 680 | c.*73 others(691): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89908710 | C | CCTCCCTC others(673): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 300 | 0.0033 | 680 | c.179 others(699): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TCF25_chr16_89868592_89916379 | 89908710 | C | CCTCCCTC others(673): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 300 | 0.0033 | 680 | c.179 others(699): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(673): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0025 | 1 | 256 | 0.0039 | 680 | c.924 others(697): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129539007 | C | CGTTGGCT others(673): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG01975.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0083a0001c0001t0002g0068others(2): Show | 5 | 94 | 0.0532 | 680 | c.969 others(697): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157310962 | G | GGCCTAAT others(673): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0319a0001c0001t0003g0320 | 2 | 344 | 0.0058 | 680 | c.327 others(697): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157310962 | G | GGCCTAAT others(673): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0100a0001c0001t0006g0101 | 2 | 344 | 0.0058 | 680 | c.327 others(697): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311153 | C | CCTGGCCT others(673): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 344 | 0.0029 | 680 | c.327 others(697): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311612 | G | GTCCCAGT others(673): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 344 | 0.0029 | 680 | c.327 others(697): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311715 | C | CCCCAGTG others(673): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02922.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183a0001c0001t0003g0324a0001c0001t0003g0325 | 3 | 344 | 0.0087 | 680 | c.327 others(697): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311715 | C | CCCCAGTG others(673): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 344 | 0.0029 | 680 | c.327 others(697): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157313167 | A | AGTGCCCC others(673): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0273 | 1 | 344 | 0.0029 | 680 | c.327 others(697): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(673): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0166 | 1 | 260 | 0.0039 | 680 | c.*54 others(691): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(673): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0016 | a0016c0016 | a0016c0016t0001 | a0016c0016t0001g0111 | 1 | 114 | 0.0088 | 680 | c.-25 others(699): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TOP1MT_chr8_143304324_143339880 | 143321834 | A | ACACGCCA others(673): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 430 | 0.0023 | 680 | c.961 others(695): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507246 | C | CATACATA others(673): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0224 | 1 | 388 | 0.0026 | 680 | c.-23 others(697): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(673): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 680 | c.*29 others(691): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(673): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 680 | c.*29 others(691): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(673): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0003 | a0002c0003t0044 | a0002c0003t0044g0101 | 1 | 174 | 0.0058 | 680 | c.41- others(697): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(673): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0021 | a0001c0001t0002g0056a0001c0002t0021g0049 | 2 | 174 | 0.0115 | 680 | c.41- others(697): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TXNDC16_chr14_52425596_52557505 | 52530408 | T | TATATATT others(673): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 238 | 0.0042 | 680 | c.392 others(697): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(673): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 338 | 0.0030 | 680 | c.246 others(699): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(673): Show |
intron_variant | MODIFIER | HG02080.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0238 | 2 | 338 | 0.0059 | 680 | c.246 others(699): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(673): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0325 | 1 | 338 | 0.0030 | 680 | c.246 others(699): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(673): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 338 | 0.0030 | 680 | c.246 others(699): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(673): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 338 | 0.0030 | 680 | c.246 others(699): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(673): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 338 | 0.0030 | 680 | c.246 others(699): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |