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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMT_chrX_1610059_1648081 | 1614372 | ACAC | A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01081.hp2 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(42): Show |
45 | 223 | 0.2018 | -3 | c.-82 others(12): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 686 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1619549 | TATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0049 others(38): Show |
42 | 223 | 0.1883 | -3 | c.70- others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1625954 | CAAA | C | intron_variant | MODIFIER | HG02559.hp2 NA18988.hp1 |
a0007a0011 | a0007c0011a0011c0018 | a0007c0011t0001a0011c0018t0001 | a0007c0011t0001g0139 a0011c0018t0001g0060 |
2 | 223 | 0.0090 | -3 | c.374 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1638527 | TGGC | T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 223 | 0.0045 | -3 | c.910 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1644219 | TTTA | T | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0017 others(9): Show |
12 | 223 | 0.0538 | -3 | c.*12 others(14): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1644446 | ATGT | A | downstream_gene_variant | MODIFIER | HG02922.hp1 NA19030.hp1 |
a0003a0012 | a0003c0005a0012c0016 | a0003c0005t0001a0012c0016t0001 | a0003c0005t0001g0202 a0012c0016t0001g0045 |
2 | 223 | 0.0090 | -3 | c.*14 others(14): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1366 | chrX | TogoVar | |||||||
ASNS_chr7_97846677_97877408 | 97847356 | GAAA | G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02630.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0021 a0001c0001t0005g0057 a0001c0001t0005g0073 others(8): Show |
14 | 436 | 0.0321 | -3 | c.*49 others(14): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4320 | chr7 | TogoVar | |||||||
ASPA_chr17_3470997_3508405 | 3501952 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG02040.hp1 HG02056.hp2 NA18944.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0022a0001c0001t0044 | a0001c0001t0009g0180 a0001c0001t0009g0204 a0001c0001t0009g0205 others(7): Show |
10 | 450 | 0.0222 | -3 | c.*28 others(14): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 6/6 | 2884 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPA_chr17_3470997_3508405 | 3502065 | CTTG | C | 3_prime_UTR_variant | MODIFIER | NA18960.hp1 NA18988.hp2 NA19010.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0005 a0001c0001t0010g0008 a0001c0001t0010g0209 others(2): Show |
5 | 450 | 0.0111 | -3 | c.*29 others(14): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 6/6 | 2983 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPG_chr14_104080700_104120582 | 104087225 | TCTC | T | intron_variant | MODIFIER | HG01168.hp1 HG02818.hp1 NA18971.hp2 |
a0002a0006a0010 | a0002c0003a0006c0012a0010c0011 | a0002c0003t0007a0006c0012t0023a0010c0011t0023 | a0002c0003t0007g0236 a0006c0012t0023g0237 a0010c0011t0023g0154 |
3 | 368 | 0.0082 | -3 | c.82+ others(18): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104089947 | CAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01884.hp2 HG02622.hp2 others(3): Show |
a0002a0009 | a0002c0003a0009c0022 | a0002c0003t0005a0009c0022t0003 | a0002c0003t0005g0022 a0002c0003t0005g0056 a0002c0003t0005g0057 others(2): Show |
6 | 368 | 0.0163 | -3 | c.83- others(18): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29899110 | GTTT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(95): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(22): Show |
98 | 394 | 0.2487 | -3 | c.-18 others(14): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1377 | chr16 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26436813 | CTTG | C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0059 a0001c0001t0005g0171 |
3 | 428 | 0.0070 | -3 | c.886 others(20): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26444858 | CTTG | C | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0020 | 4 | 428 | 0.0094 | -3 | c.*16 others(14): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 4/4 | 1655 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26446248 | TAGA | T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0029 | a0001c0001t0007g0013 a0001c0001t0007g0135 a0001c0001t0029g0013 |
7 | 428 | 0.0164 | -3 | c.*30 others(14): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 1234 | chr22 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26448749 | GAGA | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 a0001c0001t0005g0065 a0001c0001t0005g0157 others(7): Show |
11 | 428 | 0.0257 | -3 | c.*55 others(14): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 3735 | chr22 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61505493 | CAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(122): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0035 others(122): Show |
125 | 258 | 0.4845 | -3 | c.212 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61509004 | ACTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01099.hp2 others(16): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0006a0001c0001t0008a0007c0010t0006 | a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0029 others(16): Show |
19 | 258 | 0.0736 | -3 | c.212 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61523317 | TTTC | T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01099.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0029 others(15): Show |
18 | 258 | 0.0698 | -3 | c.190 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 22/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61583250 | GTTA | G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(201): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(200): Show |
204 | 258 | 0.7907 | -3 | c.106 others(20): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 15/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61621333 | AAAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02148.hp1 NA18940.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018 | a0001c0001t0001g0023 a0001c0001t0001g0071 a0001c0001t0001g0087 others(3): Show |
6 | 258 | 0.0233 | -3 | c.935 others(20): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61628323 | CTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG01256.hp2 HG02015.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0057 a0001c0001t0001g0112 a0001c0001t0001g0116 others(9): Show |
12 | 258 | 0.0465 | -3 | c.934 others(20): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61634422 | ATTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(184): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(184): Show |
187 | 258 | 0.7248 | -3 | c.890 others(18): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 12/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61654436 | ACTC | A | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp2 HG02976.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0015a0001c0001t0018a0002c0003t0002 | a0001c0001t0015g0009 a0001c0001t0018g0010 a0002c0003t0002g0073 others(2): Show |
5 | 258 | 0.0194 | -3 | c.323 others(18): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61667047 | TAGG | T | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01074.hp2 others(62): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 others(62): Show |
65 | 258 | 0.2519 | -3 | c.323 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01123.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0092 a0001c0001t0002g0134 a0001c0001t0003g0204 others(10): Show |
13 | 258 | 0.0504 | -3 | c.103 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61706404 | CAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(83): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 others(83): Show |
86 | 258 | 0.3333 | -3 | c.103 others(20): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61706479 | GAAA | G | intron_variant | MODIFIER | HG01192.hp2 HG02630.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0018 a0001c0001t0002g0015 a0001c0001t0005g0017 others(5): Show |
8 | 258 | 0.0310 | -3 | c.103 others(20): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197084463 | GTTC | G | intron_variant | MODIFIER | HG02055.hp1 HG02970.hp1 HG06807.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0073 a0001c0004t0002g0075 a0001c0004t0002g0085 |
3 | 296 | 0.0101 | -3 | c.103 others(20): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 27/27 | chr1 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197126465 | AAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG02145.hp1 HG02155.hp1 others(5): Show |
a0001a0002 | a0001c0008a0001c0040a0002c0003 | a0001c0008t0001a0001c0040t0001a0002c0003t0001 | a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0040t0001g0173 others(5): Show |
8 | 296 | 0.0270 | -3 | c.293 others(22): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 10/27 | chr1 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197142071 | TAGG | T | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 NA19030.hp1 |
a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0009 | 3 | 296 | 0.0101 | -3 | c.192 others(20): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 3/27 | chr1 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197142110 | TTTG | T | intron_variant | MODIFIER | HG02523.hp2 NA18612.hp2 NA18945.hp1 others(4): Show |
a0004a0036 | a0004c0005a0036c0027 | a0004c0005t0003a0036c0027t0003 | a0004c0005t0003g0015 a0004c0005t0003g0037 a0004c0005t0003g0038 others(3): Show |
7 | 296 | 0.0237 | -3 | c.192 others(20): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 3/27 | chr1 | TogoVar | |||||||
ASPRV1_chr2_69955089_69966631 | 69956451 | GGAA | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00642.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show |
35 | 464 | 0.0754 | -3 | c.*42 others(14): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 3637 | chr2 | TogoVar | |||||||
ASPRV1_chr2_69955089_69966631 | 69957190 | CTTG | C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 8 | 464 | 0.0172 | -3 | c.*34 others(14): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 2898 | chr2 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 81973121 | CAAA | C | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01516.hp1 HG01517.hp1 others(10): Show |
a0001 | a0001c0004a0001c0014 | a0001c0004t0001a0001c0014t0001 | a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0177 others(8): Show |
13 | 366 | 0.0355 | -3 | c.-45 others(14): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 4507 | chr17 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 82002003 | CTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0008 a0001c0007t0001g0047 a0001c0007t0001g0133 others(2): Show |
7 | 366 | 0.0191 | -3 | c.933 others(20): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82021584 | CGTG | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00735.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0062 a0001c0001t0001g0067 a0002c0005t0001g0196 others(2): Show |
5 | 366 | 0.0137 | -3 | c.*42 others(14): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 4179 | chr17 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62335597 | CTTG | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(149): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0204 a0001c0001t0002g0002 a0001c0001t0002g0003 others(148): Show |
152 | 370 | 0.4108 | -3 | c.-20 others(14): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 1850 | chr11 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62371275 | GGCA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(107): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(106): Show |
110 | 370 | 0.2973 | -3 | 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 | 62371953 | CAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0316 a0001c0001t0007g0317 a0001c0001t0007g0320 others(14): Show |
17 | 370 | 0.0460 | -3 | 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 | 62374552 | ATTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(100): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(14): Show | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0007 others(100): Show |
103 | 370 | 0.2784 | -3 | c.492 others(22): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62384915 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(96): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(13): Show | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0007 others(96): Show |
99 | 370 | 0.2676 | -3 | c.492 others(20): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62394217 | ATAT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp2 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0044 a0001c0001t0001g0095 a0001c0001t0001g0120 others(47): Show |
50 | 370 | 0.1351 | -3 | c.*19 others(14): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 806 | chr11 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62397680 | AAAC | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02056.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(6): Show | a0001c0001t0003g0008 a0001c0001t0003g0133 a0001c0001t0004g0023 others(20): Show |
23 | 370 | 0.0622 | -3 | c.*53 others(14): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4269 | chr11 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130441970 | TACA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(268): Show |
282 | 374 | 0.7540 | -3 | c.-30 others(14): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 2990 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130446282 | TGTG | T | intron_variant | MODIFIER | HG00597.hp2 NA18945.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 |
3 | 374 | 0.0080 | -3 | c.-6+ others(18): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130465049 | TATA | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0003t0001g0293 others(3): Show |
6 | 374 | 0.0160 | -3 | c.420 others(18): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130465051 | TATA | T | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02895.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0165 a0001c0001t0001g0168 others(5): Show |
8 | 374 | 0.0214 | -3 | c.420 others(18): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130465053 | TATA | T | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0206 others(2): Show |
5 | 374 | 0.0134 | -3 | c.420 others(18): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130470112 | ATCT | A | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG02818.hp2 others(5): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0018 a0001c0001t0001g0139 a0001c0001t0001g0149 others(5): Show |
8 | 374 | 0.0214 | -3 | c.496 others(18): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |