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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASH1L_chr1_155330268_155567803 | 155416126 | AATTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00621.hp1 others(61): Show |
a0001 | a0001c0001a0001c0010a0001c0017 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(61): Show |
64 | 180 | 0.3556 | -5 | c.582 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 5/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155466356 | AAAAAC | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02723.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 others(1): Show |
4 | 180 | 0.0222 | -5 | c.498 others(24): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 3/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155490968 | CAAAAA | C | intron_variant | MODIFIER | HG01975.hp2 HG02451.hp2 HG02717.hp2 others(3): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0006 | a0001c0001t0006a0002c0002t0001a0010c0006t0001 | a0001c0001t0006g0082 a0002c0002t0001g0084 a0002c0002t0001g0086 others(3): Show |
6 | 59 | 0.1017 | -5 | c.421 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33012650 | GGGGGT | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0009a0001c0001t0020a0001c0002t0005others(3): Show | a0001c0001t0009g0015 a0001c0001t0020g0023 a0001c0002t0005g0094 others(3): Show |
6 | 238 | 0.0252 | -5 | c.*13 others(16): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 436 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33068528 | TCAAAA | T | intron_variant | MODIFIER | HG01192.hp2 HG02572.hp2 HG02622.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0015 | a0001c0002t0005g0101 a0001c0002t0005g0103 a0001c0002t0015g0089 |
3 | 54 | 0.0556 | -5 | c.987 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33154995 | TTTCAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0007g0225 a0001c0002t0001g0110 a0001c0002t0002g0095 others(2): Show |
5 | 238 | 0.0210 | -5 | c.709 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33192384 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00544.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0077 others(18): Show |
21 | 45 | 0.4667 | -5 | c.709 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232446 | AATGGT | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0009a0001c0001t0022others(5): Show | a0001c0001t0004g0062 a0001c0001t0004g0078 a0001c0001t0009g0015 others(8): Show |
11 | 99 | 0.1111 | -5 | c.708 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232498 | CGGTAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(141): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(36): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(140): Show |
144 | 237 | 0.6076 | -5 | c.708 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155846710 | TTAAAA | T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0018 a0001c0001t0001g0086 a0001c0001t0007g0087 |
5 | 332 | 0.0151 | -5 | c.712 others(22): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34253436 | TTTTTA | T | intron_variant | MODIFIER | HG00544.hp1 HG01074.hp2 HG01081.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(54): Show |
62 | 304 | 0.2039 | -5 | c.-10 others(22): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34269946 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02723.hp1 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0012 others(6): Show |
10 | 41 | 0.2439 | -5 | c.*78 others(14): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 603 | chr20 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66074724 | CTTTCT | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01257.hp2 HG01358.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0003t0001a0001c0011t0001 | a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0042 others(7): Show |
13 | 290 | 0.0448 | -5 | c.-11 others(16): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1094 | chr7 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1431449 | ATATAT | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 NA18906.hp1 |
a0007a0012 | a0007c0016a0012c0025 | a0007c0016t0001a0012c0025t0001 | a0007c0016t0001g0170 a0007c0016t0001g0171 a0012c0025t0001g0164 |
3 | 183 | 0.0164 | -5 | c.509 others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1431620 | CAATAT | C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02451.hp2 others(1): Show |
a0002a0007a0012 | a0002c0003a0007c0016a0012c0025 | a0002c0003t0001a0007c0016t0001a0012c0025t0001 | a0002c0003t0001g0106 a0007c0016t0001g0170 a0007c0016t0001g0171 others(1): Show |
4 | 183 | 0.0219 | -5 | c.509 others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1627633 | CGAAAT | C | intron_variant | MODIFIER | HG01891.hp2 HG02293.hp1 HG02451.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0203 a0001c0001t0001g0212 others(3): Show |
6 | 88 | 0.0682 | -5 | c.375 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189669452 | TATAAC | T | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0010 a0001c0002t0001g0043 a0001c0008t0001g0010 |
9 | 338 | 0.0266 | -5 | c.164 others(22): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189672749 | GCTACT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(94): Show |
334 | 338 | 0.9882 | -5 | c.*20 others(16): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 1919 | chr2 | TogoVar | |||||||
ASNSD1_chr2_189656459_189675831 | 189675241 | TAAATC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(11): Show |
50 | 338 | 0.1479 | -5 | c.*45 others(16): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 4411 | chr2 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26435710 | TAAAAG | T | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01358.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0062 a0001c0001t0002g0005 a0001c0001t0002g0036 others(21): Show |
43 | 97 | 0.4433 | -5 | c.886 others(22): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61621331 | AAAAAG | A | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00621.hp1 others(100): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0019 a0001c0001t0001g0078 a0001c0001t0001g0079 others(99): Show |
103 | 254 | 0.4055 | -5 | c.935 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61628323 | CTTTTT | C | intron_variant | MODIFIER | HG01496.hp2 HG02145.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0116 a0001c0001t0005g0076 a0001c0001t0005g0089 others(2): Show |
5 | 60 | 0.0833 | -5 | c.934 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61667958 | TATAAC | T | intron_variant | MODIFIER | HG01074.hp1 HG01496.hp2 HG01928.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0084 a0001c0001t0002g0121 a0001c0001t0006g0127 others(2): Show |
5 | 256 | 0.0195 | -5 | c.322 others(24): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAAAA | C | intron_variant | MODIFIER | HG02015.hp2 HG02055.hp1 HG04184.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(1): Show | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 others(9): Show |
12 | 24 | 0.5000 | -5 | c.103 others(24): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61706425 | AAAAAG | A | intron_variant | MODIFIER | HG01192.hp2 HG02630.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0071 a0001c0001t0002g0015 others(3): Show |
6 | 253 | 0.0237 | -5 | c.103 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197089006 | AATAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00639.hp2 others(61): Show |
a0002a0014a0022others(3): Show | a0002c0002a0002c0040a0014c0023others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0040t0001others(5): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 others(39): Show |
64 | 294 | 0.2177 | -5 | c.998 others(22): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 25/27 | chr1 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197126463 | AAAAAG | A | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG02148.hp2 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(4): Show | a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0003t0001g0036 others(7): Show |
11 | 294 | 0.0374 | -5 | c.293 others(24): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 10/27 | chr1 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197136540 | GAAGTT | G | intron_variant | MODIFIER | HG02818.hp2 HG02976.hp1 HG03041.hp1 |
a0011 | a0011c0013 | a0011c0013t0004 | a0011c0013t0004g0046 a0011c0013t0004g0047 a0011c0013t0004g0048 |
3 | 294 | 0.0102 | -5 | c.202 others(24): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197137964 | TTTATC | T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02965.hp1 others(1): Show |
a0016a0017 | a0016c0025a0017c0024 | a0016c0025t0004a0017c0024t0004 | a0016c0025t0004g0024 a0017c0024t0004g0088 a0017c0024t0004g0089 |
4 | 294 | 0.0136 | -5 | c.202 others(24): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 81982790 | CTCTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0002 | a0001c0001t0001g0052 a0001c0008t0002g0009 a0001c0008t0002g0211 others(2): Show |
7 | 364 | 0.0192 | -5 | c.159 others(20): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62333423 | TTTTTG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(205): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(202): Show |
208 | 244 | 0.8525 | -5 | c.-42 others(16): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4024 | chr11 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62357224 | CTTTTG | C | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp2 HG03492.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0009a0002c0004t0035 | a0001c0001t0001g0069 a0001c0001t0009g0342 a0002c0004t0035g0182 |
3 | 20 | 0.1500 | -5 | c.491 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362709 | ATATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(90): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0203 a0001c0001t0002g0005 a0001c0001t0002g0006 others(89): Show |
93 | 368 | 0.2527 | -5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362730 | AAATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(83): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(9): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0003g0003 others(81): Show |
86 | 368 | 0.2337 | -5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01070.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0200 a0001c0001t0002g0211 a0001c0001t0002g0212 others(15): Show |
18 | 19 | 0.9474 | -5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62364420 | GATAAA | G | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 others(4): Show |
7 | 368 | 0.0190 | -5 | c.491 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130465049 | TATATA | T | intron_variant | MODIFIER | HG01433.hp1 HG02523.hp2 HG02922.hp1 others(3): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0053 a0001c0002t0001g0192 a0001c0002t0002g0179 others(3): Show |
6 | 366 | 0.0164 | -5 | c.420 others(20): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130465051 | TATATA | T | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02970.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0001a0003c0008t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(6): Show |
10 | 363 | 0.0275 | -5 | c.420 others(20): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | chr9 | TogoVar | |||||||
ASTE1_chr3_131008875_131031825 | 131017992 | AAAAAG | A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00741.hp1 others(22): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0002 | a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0041 others(1): Show |
25 | 402 | 0.0622 | -5 | c.151 others(22): Show |
ASTE1 | ENSG00000034533.12 | transcript | ENST00000264992.8 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176864687 | TGTCAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG02257.hp1 others(2): Show |
a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0030 a0003c0010t0006g0031 a0003c0010t0006g0038 others(2): Show |
5 | 110 | 0.0455 | -5 | c.364 others(22): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 22/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177078944 | CAATTT | C | intron_variant | MODIFIER | HG00140.hp1 NA20752.hp2 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0002a0003c0010t0006 | a0001c0001t0002g0041 a0003c0010t0006g0043 |
2 | 110 | 0.0182 | -5 | c.284 others(24): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177159066 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01070.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(16): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 others(31): Show |
34 | 95 | 0.3579 | -5 | c.283 others(22): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116423756 | CTTTGT | C | 3_prime_UTR_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0007 | a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0003t0007g0071 others(1): Show |
4 | 100 | 0.0400 | -5 | c.*20 others(16): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 23/23 | 2090 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116429339 | GAAAAA | G | intron_variant | MODIFIER | HG02698.hp2 HG03239.hp1 NA19065.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0008a0001c0002t0008a0001c0009t0008 | a0001c0001t0008g0008 a0001c0001t0008g0064 a0001c0002t0008g0024 others(1): Show |
4 | 14 | 0.2857 | -5 | c.378 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 22/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116477856 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0028 a0001c0001t0002g0040 a0001c0001t0002g0050 others(44): Show |
47 | 100 | 0.4700 | -5 | c.349 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116498424 | AAAAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0095 others(11): Show |
14 | 100 | 0.1400 | -5 | c.335 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116557456 | TAAATG | T | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0037 a0001c0001t0005g0035 |
2 | 100 | 0.0200 | -5 | c.335 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116577537 | AAAAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01109.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0095 others(18): Show |
21 | 100 | 0.2100 | -5 | c.335 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116659185 | TATTTG | T | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0100 others(10): Show |
13 | 100 | 0.1300 | -5 | c.280 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116704811 | TTAAAG | T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0099 others(12): Show |
15 | 100 | 0.1500 | -5 | c.280 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar |