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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF18_chr19_7343937_7477478 | 7362119 | GAGAAGGA others(47): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00738.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0002a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0008g0253 others(5): Show |
8 | 298 | 0.0269 | -54 | c.-11 others(71): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7385887 | CCTCCCTC others(47): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02109.hp1 HG02572.hp2 others(3): Show |
a0002a0018a0027 | a0002c0007a0018c0038a0027c0037 | a0002c0007t0001a0018c0038t0001a0027c0037t0001 | a0002c0007t0001g0011 a0002c0007t0001g0016 a0002c0007t0001g0017 others(3): Show |
6 | 298 | 0.0201 | -54 | c.967 others(71): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73741375 | GTGTGTGT others(47): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02486.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0025a0002c0002a0002c0006others(4): Show | a0001c0025t0001a0002c0002t0002a0002c0006t0004others(6): Show | a0001c0025t0001g0156 a0002c0002t0002g0158 a0002c0006t0004g0114 others(6): Show |
9 | 188 | 0.0479 | -54 | c.34- others(69): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF28_chr5_73621196_73946990 | 73741377 | GTGTGTGT others(47): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0007 | a0007c0009 | a0007c0009t0009 | a0007c0009t0009g0164 | 1 | 188 | 0.0053 | -54 | c.34- others(69): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111221229 | ATATAGAT others(47): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0070 | 1 | 274 | 0.0037 | -54 | c.670 others(71): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45899657 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0107 | 1 | 318 | 0.0031 | -54 | c.536 others(73): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARMC8_chr3_138182301_138303373 | 138264770 | ATTTGTTT others(47): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 246 | 0.0041 | -54 | c.129 others(71): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 14/21 | chr3 | TogoVar | |||||||
ARRB1_chr11_75255122_75356661 | 75350456 | CTGCTGTG others(47): Show |
C | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 320 | 0.0031 | -54 | c.20+ others(69): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5647860 | TAAATGCT others(47): Show |
T | intron_variant | MODIFIER | NA19076.hp2 | a0011 | a0011c0009 | a0011c0009t0001 | a0011c0009t0001g0177 | 1 | 446 | 0.0022 | -54 | c.517 others(71): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219367 | ATATTTGT others(47): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01358.hp1 HG01934.hp2 others(21): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
24 | 410 | 0.0585 | -54 | c.670 others(71): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASCC2_chr22_29783611_29843274 | 29818403 | TACACACA others(47): Show |
T | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0309 | 1 | 372 | 0.0027 | -54 | c.542 others(71): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608481 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | NA18963.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0196 a0001c0001t0004g0197 |
2 | 314 | 0.0064 | -54 | c.478 others(73): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCL4_chr12_107769704_107781644 | 107780881 | GTATGAAA others(47): Show |
G | downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 462 | 0.0022 | -54 | c.*51 others(65): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 4238 | chr12 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1402810 | TCTTCCCC others(47): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0149 | 1 | 185 | 0.0054 | -54 | c.*40 others(63): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 328 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1448527 | GCCATCTT others(47): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0038 | 1 | 185 | 0.0054 | -54 | c.93+ others(69): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ASTL_chr2_96117818_96143502 | 96138570 | CCTCCACC others(47): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
2 | 396 | 0.0051 | -54 | c.-18 others(63): Show |
ASTL | ENSG00000188886.4 | transcript | ENST00000342380.3 | protein_coding | 69 | chr2 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016619 | TCTATCTA others(47): Show |
T | intron_variant | MODIFIER | HG01891.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0003t0007 | a0001c0001t0016g0075 a0001c0003t0007g0074 |
2 | 102 | 0.0196 | -54 | c.142 others(73): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ATAD3A_chr1_1507162_1539685 | 1525026 | GGTTTCCC others(47): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0321 a0011c0013t0001g0323 |
2 | 420 | 0.0048 | -54 | c.121 others(71): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1532885 | GGGGCCCC others(47): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0245 | 1 | 420 | 0.0024 | -54 | c.161 others(72): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161878489 | GGGTTCAG others(47): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0090 | 1 | 332 | 0.0030 | -54 | c.171 others(75): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308203 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG02896.hp2 others(4): Show |
a0006 | a0006c0007 | a0006c0007t0008 | a0006c0007t0008g0001 a0006c0007t0008g0080 a0006c0007t0008g0082 others(1): Show |
7 | 356 | 0.0197 | -54 | c.430 others(73): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG9B_chr7_151010151_151029494 | 151027374 | TTCTCCCC others(47): Show |
T | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0046 | 1 | 466 | 0.0022 | -54 | c.-30 others(65): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 2881 | chr7 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325609 | TACACACA others(47): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0095 | 1 | 236 | 0.0042 | -54 | c.364 others(71): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112772524 | TTCATCAC others(47): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(70): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(43): Show | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(70): Show |
73 | 254 | 0.2874 | -54 | c.40- others(71): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112862932 | CAGTGCAG others(47): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0045 | a0001c0045t0045 | a0001c0045t0045g0133 | 1 | 254 | 0.0039 | -54 | c.299 others(71): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112863516 | CGCAATAA others(47): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0218 | 1 | 254 | 0.0039 | -54 | c.299 others(71): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112863862 | ATGCAGCT others(47): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0010 | a0002c0010t0040 | a0002c0010t0040g0221 | 1 | 254 | 0.0039 | -54 | c.299 others(73): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112863985 | GGGGTCCA others(47): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01099.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0013a0001c0017others(3): Show | a0001c0002t0004a0001c0002t0007a0001c0002t0018others(7): Show | a0001c0002t0004g0041 a0001c0002t0007g0110 a0001c0002t0007g0237 others(12): Show |
15 | 254 | 0.0591 | -54 | c.299 others(73): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112864348 | ATGCAGCT others(47): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00642.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0021a0001c0001t0022others(24): Show | a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0085 others(49): Show |
52 | 254 | 0.2047 | -54 | c.299 others(73): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112864456 | ATGCAGCT others(47): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 254 | 0.0039 | -54 | c.299 others(73): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112864995 | CCGCGCAG others(47): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(4): Show |
a0001a0003a0006 | a0001c0001a0003c0048a0006c0036 | a0001c0001t0001a0001c0001t0010a0001c0001t0055others(3): Show | a0001c0001t0001g0225 a0001c0001t0010g0002 a0001c0001t0010g0004 others(4): Show |
7 | 254 | 0.0276 | -54 | c.299 others(73): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112865301 | CGCAGTAA others(47): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0094 | 1 | 254 | 0.0039 | -54 | c.299 others(73): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669338 | TTCCCCTA others(47): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 3 | 394 | 0.0076 | -54 | c.*31 others(65): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3097 | chr4 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123731563 | TCCTGGGC others(47): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0041 others(7): Show |
10 | 222 | 0.0451 | -54 | c.649 others(71): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145197 | AAGAAAGA others(47): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114 | 1 | 360 | 0.0028 | -54 | c.639 others(71): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145201 | AAGAAAGA others(47): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02129.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0002g0182 a0001c0001t0002g0304 |
3 | 360 | 0.0083 | -54 | c.639 others(71): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546465 | TATATATA others(47): Show |
T | upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 410 | 0.0024 | -54 | c.-46 others(65): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3889 | chr2 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79327873 | CATGGATA others(47): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01952.hp2 HG01981.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0010a0001c0004t0002a0002c0002t0004 | a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0004t0002g0095 others(3): Show |
6 | 298 | 0.0201 | -54 | c.177 others(73): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(47): Show |
G | intron_variant | MODIFIER | HG02300.hp2 HG02647.hp1 HG04199.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0066 a0002c0002t0001g0190 a0002c0002t0001g0238 others(3): Show |
6 | 446 | 0.0135 | -54 | c.287 others(69): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134417138 | GCAGACAT others(47): Show |
G | upstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 352 | 0.0028 | -54 | c.-56 others(65): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 4897 | chr11 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82962439 | TCTCACAC others(47): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 266 | 0.0038 | -54 | c.556 others(71): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82962466 | GTCCCGCG others(47): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG02273.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0009a0001c0006t0006 | a0001c0001t0009g0246 a0001c0006t0006g0047 |
2 | 266 | 0.0075 | -54 | c.556 others(71): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83032385 | GCTCGGGA others(47): Show |
G | intron_variant | MODIFIER | NA18951.hp2 NA18986.hp1 NA19000.hp2 |
a0001a0002a0007 | a0001c0003a0002c0010a0007c0018 | a0001c0003t0009a0002c0010t0007a0007c0018t0005 | a0001c0003t0009g0204 a0002c0010t0007g0205 a0007c0018t0005g0196 |
3 | 266 | 0.0113 | -54 | c.297 others(71): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119682510 | AGGAGAAG others(47): Show |
A | downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 420 | 0.0024 | -54 | c.*52 others(65): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 4692 | chr10 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 87948193 | CAGGCTCA others(47): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(32): Show | a0001c0001t0001g0106 a0001c0001t0001g0191 a0001c0001t0001g0192 others(155): Show |
161 | 352 | 0.4574 | -54 | c.-33 others(65): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 3240 | chr16 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467366 | GTGGTGAT others(47): Show |
G | intron_variant | MODIFIER | NA19065.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0052 | a0001c0001t0051g0159 a0001c0001t0052g0166 |
2 | 262 | 0.0076 | -54 | c.487 others(71): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467768 | GTGGAGAT others(47): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01243.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(9): Show | a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0010g0057 others(10): Show |
13 | 262 | 0.0496 | -54 | c.487 others(69): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60507325 | AAGGGAAG others(47): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0037 | a0001c0001t0010g0015 a0001c0001t0037g0068 |
2 | 262 | 0.0076 | -54 | c.386 others(73): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046522 | TTATATAT others(47): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0109 |
2 | 257 | 0.0078 | -54 | c.*55 others(65): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4728 | chrX | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(47): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02818.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0010 | a0001c0001t0004a0001c0001t0023a0001c0004t0048others(1): Show | a0001c0001t0004g0073 a0001c0001t0004g0231 a0001c0001t0023g0233 others(2): Show |
5 | 368 | 0.0136 | -54 | c.241 others(71): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar |