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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC9A3_chr5_465456_529449 | 505367 | GGGGGAGA others(72): Show |
G | intron_variant | MODIFIER | HG02148.hp1 HG03710.hp2 NA18957.hp1 |
a0001a0002a0008 | a0001c0027a0002c0002a0008c0023 | a0001c0027t0007a0002c0002t0002a0008c0023t0007 | a0001c0027t0007g0136 a0002c0002t0002g0075 a0008c0023t0007g0147 |
3 | 218 | 0.0138 | -79 | c.212 others(98): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLC9A8_chr20_49807828_49897242 | 49834390 | ATATATAT others(72): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02559.hp2 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 others(7): Show |
10 | 360 | 0.0278 | -79 | c.290 others(96): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92047217 | TATATACA others(72): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0011 | 1 | 190 | 0.0053 | -79 | c.647 others(98): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMARCAD1_chr4_94202865_94296292 | 94213536 | TACACATC others(72): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0147 | 1 | 322 | 0.0031 | -79 | c.190 others(96): Show |
SMARCAD1 | ENSG00000163104.18 | transcript | ENST00000354268.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMG1_chr16_18799860_18931408 | 18827628 | TTATATAT others(72): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0008a0001c0009t0008a0001c0009t0029 | a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0009t0008g0222 others(3): Show |
6 | 300 | 0.0200 | -79 | c.974 others(96): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 55/62 | chr16 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168272 | GAAAGAAA others(72): Show |
G | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01358.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024a0001c0001t0025 | a0001c0001t0004g0000 a0001c0001t0024g0000 a0001c0001t0025g0000 |
6 | 397 | 0.0151 | -79 | c.-30 others(90): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2921 | chr12 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1221624 | CGTGTCGG others(72): Show |
C | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 190 | 0.0053 | -79 | c.719 others(98): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
SNX25_chr4_185204598_185368966 | 185222030 | CACTGTAG others(72): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(189): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(187): Show |
192 | 276 | 0.6957 | -79 | c.429 others(98): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34631997 | GCCAACAT others(72): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02895.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 |
3 | 322 | 0.0093 | -79 | c.-19 others(90): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 1850 | chr14 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36858392 | AAACACAC others(72): Show |
A | intron_variant | MODIFIER | NA18747.hp1 NA19009.hp1 |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0001a0009c0015t0002 | a0001c0001t0001g0167 a0009c0015t0002g0168 |
2 | 282 | 0.0071 | -79 | c.687 others(96): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7482562 | CAGACCTG others(72): Show |
C | intron_variant | MODIFIER | HG02300.hp2 | a0005 | a0005c0018 | a0005c0018t0059 | a0005c0018t0059g0145 | 1 | 168 | 0.0060 | -79 | c.549 others(98): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46170770 | ACATCCTC others(72): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(56): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0016others(13): Show | a0001c0001t0006g0010 a0001c0001t0006g0064 a0001c0001t0006g0065 others(49): Show |
59 | 251 | 0.2351 | -79 | c.194 others(96): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47570559 | CACATCAT others(72): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 216 | 0.0046 | -79 | c.109 others(100): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63903571 | TTTGAGAC others(72): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0103a0001c0003t0089 | a0001c0001t0103g0159 a0001c0003t0089g0160 |
2 | 170 | 0.0118 | -79 | c.67+ others(96): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48564405 | GTCTTCTT others(72): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0006 | a0005c0006t0011 | a0005c0006t0011g0335 | 1 | 376 | 0.0027 | -79 | c.-47 others(98): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STOX2_chr4_183900307_184028526 | 183904370 | TTTCTATA others(72): Show |
T | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0013 | a0002c0013t0071 | a0002c0013t0071g0260 | 1 | 318 | 0.0031 | -79 | c.-24 others(90): Show |
STOX2 | ENSG00000173320.12 | transcript | ENST00000308497.9 | protein_coding | 936 | chr4 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76172309 | CCGCCCAG others(72): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03486.hp2 HG03540.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0083a0001c0002t0093a0001c0002t0114others(3): Show | a0001c0001t0083g0204 a0001c0002t0093g0205 a0001c0002t0114g0125 others(3): Show |
6 | 234 | 0.0256 | -79 | c.581 others(98): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
SYNGR4_chr19_48359367_48381377 | 48365332 | TCCACACA others(72): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 |
3 | 430 | 0.0070 | -79 | c.-10 others(96): Show |
SYNGR4 | ENSG00000105467.9 | transcript | ENST00000344846.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SYNGR4_chr19_48359367_48381377 | 48365345 | TTTCCTGG others(72): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03540.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0038 | 2 | 430 | 0.0047 | -79 | c.-10 others(96): Show |
SYNGR4 | ENSG00000105467.9 | transcript | ENST00000344846.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158713143 | CGTTCCAG others(72): Show |
C | intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0243 | 1 | 292 | 0.0034 | -79 | c.517 others(94): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TACR3_chr4_103581031_103724985 | 103650631 | TATAATAT others(72): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00741.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 others(23): Show |
26 | 280 | 0.0929 | -79 | c.888 others(96): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48507160 | CAAAGGGC others(72): Show |
C | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 258 | 0.0039 | -79 | c.112 others(98): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
TEX19_chr17_82354247_82368775 | 82360806 | AGGTTCCC others(72): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0052 | 1 | 380 | 0.0026 | -79 | c.-27 others(97): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169257115 | GTGGTTGC others(72): Show |
G | upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0296 | 1 | 396 | 0.0025 | -79 | c.-34 others(90): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 3270 | chr6 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377261 | TCTGTGCC others(72): Show |
T | upstream_gene_variant | MODIFIER | NA18959.hp2 NA19003.hp2 NA19086.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0004 | a0001c0001t0001g0351 a0004c0005t0004g0013 |
3 | 370 | 0.0081 | -79 | c.-13 others(90): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1236 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377449 | CCCCACCC others(72): Show |
C | upstream_gene_variant | MODIFIER | NA18943.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0264 | 1 | 370 | 0.0027 | -79 | c.-15 others(90): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1424 | chr19 | TogoVar | |||||||
TIAM2_chr6_154990315_155262723 | 155218850 | CGACCATC others(72): Show |
C | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0054 | 1 | 230 | 0.0044 | -79 | c.316 others(98): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TMEM120A_chr7_75981831_75999595 | 75988902 | GGGTGTGT others(72): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 368 | 0.0027 | -79 | c.377 others(94): Show |
TMEM120A | ENSG00000189077.11 | transcript | ENST00000493111.7 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
TMEM143_chr19_48327356_48368940 | 48365332 | TCCACACA others(72): Show |
T | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG03579.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0002 | a0001c0002t0004g0052 a0001c0003t0002g0311 a0001c0003t0002g0312 |
3 | 350 | 0.0086 | -79 | c.-14 others(90): Show |
TMEM143 | ENSG00000161558.11 | transcript | ENST00000293261.8 | protein_coding | 1393 | chr19 | TogoVar | |||||||
TMEM143_chr19_48327356_48368940 | 48365345 | TTTCCTGG others(72): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0211 |
2 | 350 | 0.0057 | -79 | c.-15 others(90): Show |
TMEM143 | ENSG00000161558.11 | transcript | ENST00000293261.8 | protein_coding | 1406 | chr19 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113811532 | AGTGGCCC others(72): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp1 others(31): Show |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0007a0001c0002t0008a0001c0002t0011others(23): Show | a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0171 others(30): Show |
34 | 260 | 0.1308 | -79 | c.814 others(94): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143307954 | GCGTGGCA others(72): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(116): Show |
a0001a0008a0013others(1): Show | a0001c0001a0001c0008a0008c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(104): Show |
119 | 430 | 0.2767 | -79 | c.*14 others(90): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 1369 | chr8 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930543 | GGGGTTAG others(72): Show |
G | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 466 | 0.0022 | -79 | c.*49 others(90): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4826 | chr11 | TogoVar | |||||||
TPCN2_chr11_69043932_69095597 | 69069427 | ACCGCAGT others(72): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0006 | a0004c0006t0009 | a0004c0006t0009g0192 | 1 | 404 | 0.0025 | -79 | c.830 others(95): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TPD52L2_chr20_63860270_63896538 | 63880257 | TTAGGGCA others(72): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0130 | 1 | 368 | 0.0027 | -79 | c.375 others(96): Show |
TPD52L2 | ENSG00000101150.18 | transcript | ENST00000346249.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TRERF1_chr6_42219931_42456926 | 42262434 | CAGAGAGA others(72): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 180 | 0.0056 | -79 | c.188 others(96): Show |
TRERF1 | ENSG00000124496.13 | transcript | ENST00000695948.1 | protein_coding | 8/17 | chr6 | TogoVar | |||||||
TSSK2_chr22_19126308_19137622 | 19136239 | GTAGTCCC others(72): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(406): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(12): Show |
409 | 440 | 0.9296 | -79 | c.*37 others(90): Show |
TSSK2 | ENSG00000206203.5 | transcript | ENST00000399635.4 | protein_coding | 3618 | chr22 | TogoVar | |||||||
TTR_chr18_31586877_31603821 | 31600525 | CAAGAATA others(72): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 410 | 0.0024 | -79 | c.*18 others(90): Show |
TTR | ENSG00000118271.12 | transcript | ENST00000237014.8 | protein_coding | 1705 | chr18 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23044112 | GTCATCAT others(72): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02615.hp2 HG02647.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 |
3 | 351 | 0.0086 | -79 | c.-46 others(90): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4544 | chr15 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667538 | TGGTGATG others(72): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG01993.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0009a0001c0005t0006 | a0001c0001t0009g0346 a0001c0001t0009g0347 a0001c0005t0006g0238 |
3 | 482 | 0.0062 | -79 | c.455 others(96): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
UBE2E1_chr3_23800955_23896640 | 23871300 | CAGAGGAG others(72): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 370 | 0.0027 | -79 | c.204 others(98): Show |
UBE2E1 | ENSG00000170142.12 | transcript | ENST00000306627.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6447470 | TCACACAC others(72): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0197 a0001c0001t0001g0252 others(9): Show |
12 | 340 | 0.0353 | -79 | c.-14 others(90): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 1388 | chr5 | TogoVar | |||||||
UBE2S_chr19_55394745_55412788 | 55396480 | CCCCTCCC others(72): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp1 NA20905.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 360 | 0.0083 | -79 | c.*48 others(90): Show |
UBE2S | ENSG00000108106.14 | transcript | ENST00000264552.14 | protein_coding | 3264 | chr19 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215836464 | TTATATAT others(72): Show |
T | intron_variant | MODIFIER | HG02896.hp1 NA18522.hp1 |
a0036a0060 | a0036c0053a0060c0014 | a0036c0053t0001a0060c0014t0003 | a0036c0053t0001g0062 a0060c0014t0003g0006 |
2 | 74 | 0.0270 | -79 | c.937 others(98): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 47/71 | chr1 | TogoVar | |||||||
USP40_chr2_233470526_233571782 | 233567010 | TCTTATAT others(72): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp1 HG02976.hp1 NA18989.hp1 |
a0001a0002 | a0001c0023a0002c0015 | a0001c0023t0005a0002c0015t0014 | a0001c0023t0005g0299 a0002c0015t0014g0134 a0002c0015t0014g0135 |
3 | 324 | 0.0093 | -79 | c.-42 others(88): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 229 | chr2 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573240 | AAATAGAG others(72): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0168 | 1 | 388 | 0.0026 | -79 | c.273 others(96): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61968632 | AACAATCA others(72): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0026 | a0026c0042 | a0026c0042t0009 | a0026c0042t0009g0345 | 1 | 352 | 0.0028 | -79 | c.291 others(96): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 28/84 | chr15 | TogoVar | |||||||
WWOX_chr16_78094654_79217667 | 78604759 | CCCCCCTC others(72): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 142 | 0.0070 | -79 | c.105 others(102): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
XXYLT1_chr3_195063284_195276159 | 195107555 | AGAGGGGG others(72): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0171 a0001c0001t0009g0093 a0001c0001t0009g0118 |
3 | 198 | 0.0152 | -79 | c.786 others(98): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
XXYLT1_chr3_195063284_195276159 | 195107557 | AGGGGGAG others(72): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0002g0038 a0001c0001t0006g0054 a0001c0001t0011g0094 others(3): Show |
6 | 198 | 0.0303 | -79 | c.786 others(98): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 3/3 | chr3 | TogoVar |