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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRC_chr20_37341140_37411050 | 37374571 | CTTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG01358.hp2 HG02109.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0081 a0001c0001t0002g0006 a0001c0001t0002g0025 others(18): Show |
21 | 282 | 0.0745 | -6 | c.-17 others(25): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRD5A2_chr2_31517480_31585938 | 31532361 | TCACACA | T | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG03209.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0005 | a0001c0001t0006a0001c0007t0016a0004c0005t0011others(1): Show | a0001c0001t0006g0015 a0001c0001t0006g0162 a0001c0007t0016g0023 others(3): Show |
7 | 386 | 0.0181 | -6 | c.446 others(21): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31549081 | AATTATT | A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0141 a0001c0001t0001g0142 others(14): Show |
18 | 386 | 0.0466 | -6 | c.282 others(25): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31554924 | CGTGTGT | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01106.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0246 others(11): Show |
18 | 386 | 0.0466 | -6 | c.282 others(25): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31559836 | CCACACA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(83): Show |
97 | 386 | 0.2513 | -6 | c.281 others(25): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17839097 | TTTGTTG | T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(43): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0037others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 others(37): Show |
46 | 352 | 0.1307 | -6 | c.-22 others(17): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 2112 | chr17 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41850750 | CTTTTTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(79): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0007a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0162 a0001c0001t0001g0253 a0001c0001t0001g0254 others(79): Show |
82 | 336 | 0.2441 | -6 | c.89- others(23): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41864257 | TATATAC | T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01099.hp1 others(26): Show |
a0002 | a0002c0002a0002c0015a0002c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0037 a0002c0002t0002g0025 a0002c0002t0002g0027 others(26): Show |
29 | 336 | 0.0863 | -6 | c.89- others(21): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41864259 | TATACAC | T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03669.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0004 | a0002c0002t0002g0096 a0002c0002t0002g0098 a0003c0003t0004g0097 |
3 | 336 | 0.0089 | -6 | c.89- others(21): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREK1IP1_chr5_64713148_64773691 | 64735011 | TTTATCA | T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(20): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0008a0001c0003t0010a0001c0003t0013others(4): Show | a0001c0003t0008g0065 a0001c0003t0008g0066 a0001c0003t0008g0067 others(20): Show |
23 | 342 | 0.0673 | -6 | c.205 others(23): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64749059 | CATAATA | C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00741.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(7): Show | a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 others(27): Show |
34 | 342 | 0.0994 | -6 | c.61+ others(21): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64771674 | TTATAAG | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(82): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0021others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0020 others(63): Show |
85 | 342 | 0.2485 | -6 | c.-31 others(17): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 2984 | chr5 | TogoVar | |||||||
SRFBP1_chr5_121956975_122033633 | 121961698 | AACACAC | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02559.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0004a0004c0006t0001 | a0001c0001t0004g0176 a0001c0001t0004g0181 a0001c0001t0004g0182 others(5): Show |
8 | 228 | 0.0351 | -6 | c.-33 others(15): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 276 | chr5 | TogoVar | |||||||
SRFBP1_chr5_121956975_122033633 | 122025006 | AACGTGC | A | intron_variant | MODIFIER | HG01433.hp1 HG01928.hp1 HG02132.hp1 others(14): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0002 a0002c0003t0002g0027 a0002c0003t0002g0028 others(11): Show |
17 | 228 | 0.0746 | -6 | c.110 others(25): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRF_chr6_43166269_43186506 | 43169986 | GTTTTTT | G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02965.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0010g0021 a0001c0001t0010g0039 others(1): Show |
6 | 356 | 0.0169 | -6 | c.-16 others(17): Show |
SRF | ENSG00000112658.8 | transcript | ENST00000265354.6 | protein_coding | 1282 | chr6 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63842221 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01361.hp1 HG02056.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0072a0001c0001t0086a0001c0001t0095others(16): Show | a0001c0001t0072g0011 a0001c0001t0086g0102 a0001c0001t0095g0010 others(16): Show |
19 | 170 | 0.1118 | -6 | c.-25 others(17): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 2478 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63882678 | ATATAAG | A | intron_variant | MODIFIER | HG03486.hp1 NA19240.hp2 |
a0001 | a0001c0010a0001c0011 | a0001c0010t0019a0001c0011t0015 | a0001c0010t0019g0168 a0001c0011t0015g0083 |
2 | 170 | 0.0118 | -6 | c.67+ others(23): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63894951 | TAGCAGC | T | intron_variant | MODIFIER | HG01243.hp1 HG01978.hp1 HG02056.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0007a0001c0001t0069a0001c0001t0075others(25): Show | a0001c0001t0007g0077 a0001c0001t0069g0163 a0001c0001t0075g0072 others(25): Show |
28 | 170 | 0.1647 | -6 | c.67+ others(23): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63949396 | TTTATTA | T | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01243.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0006a0001c0001t0094a0001c0001t0095others(24): Show | a0001c0001t0006g0112 a0001c0001t0006g0154 a0001c0001t0094g0052 others(27): Show |
30 | 170 | 0.1765 | -6 | c.68- others(23): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63983797 | AATATAT | A | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03654.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0027a0001c0002t0032a0001c0002t0041others(3): Show | a0001c0002t0027g0046 a0001c0002t0032g0147 a0001c0002t0041g0034 others(3): Show |
6 | 170 | 0.0353 | -6 | c.68- others(17): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63992660 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG01261.hp2 HG01496.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0006a0001c0001t0009a0001c0001t0011others(10): Show | a0001c0001t0006g0154 a0001c0001t0009g0143 a0001c0001t0011g0149 others(10): Show |
13 | 170 | 0.0765 | -6 | c.426 others(23): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64008364 | GTTTTTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00639.hp1 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(58): Show | a0001c0001t0003g0098 a0001c0001t0007g0077 a0001c0001t0010g0157 others(62): Show |
65 | 170 | 0.3824 | -6 | c.427 others(23): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64014758 | TTTGTTG | T | intron_variant | MODIFIER | HG02486.hp1 HG02809.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0086a0001c0001t0140a0001c0001t0146others(3): Show | a0001c0001t0086g0102 a0001c0001t0140g0092 a0001c0001t0146g0013 others(4): Show |
7 | 170 | 0.0412 | -6 | c.427 others(23): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64034198 | ATCCTGC | A | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp1 HG02055.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0071a0001c0001t0072a0001c0001t0082others(31): Show | a0001c0001t0071g0006 a0001c0001t0072g0011 a0001c0001t0082g0085 others(38): Show |
41 | 170 | 0.2412 | -6 | c.490 others(23): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64041875 | ATATTAT | A | intron_variant | MODIFIER | HG02056.hp2 HG02486.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0078a0001c0001t0128a0001c0001t0140others(2): Show | a0001c0001t0078g0128 a0001c0001t0128g0031 a0001c0001t0140g0092 others(2): Show |
5 | 170 | 0.0294 | -6 | c.490 others(21): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64072108 | CTGTGTG | C | intron_variant | MODIFIER | HG01261.hp1 HG02895.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0111a0001c0002t0052a0001c0006t0150 | a0001c0001t0111g0055 a0001c0002t0052g0101 a0001c0006t0150g0167 |
3 | 170 | 0.0177 | -6 | c.112 others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64101308 | GGTGTGT | G | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02922.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0136a0003c0005t0137a0003c0005t0138others(1): Show | a0003c0005t0136g0016 a0003c0005t0137g0038 a0003c0005t0138g0047 others(1): Show |
4 | 170 | 0.0235 | -6 | c.181 others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2B_chr1_144882288_145100328 | 144883994 | CACGGCG | C | downstream_gene_variant | MODIFIER | HG01346.hp2 HG02615.hp2 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0013a0007c0007t0018 | a0001c0001t0013g0025 a0007c0007t0018g0001 |
2 | 56 | 0.0357 | -6 | c.*81 others(17): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3293 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145030721 | AATATAT | A | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG03490.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0004 | a0001c0001t0001a0008c0004t0005 | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0030 others(1): Show |
4 | 56 | 0.0714 | -6 | c.68- others(23): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145056952 | AACACAC | A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0054 a0003c0003t0004g0055 |
2 | 56 | 0.0357 | -6 | c.67+ others(23): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145068893 | ATGTGTG | A | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01099.hp2 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0018 others(19): Show |
22 | 56 | 0.3929 | -6 | c.67+ others(23): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121223351 | TTGTGTG | T | intron_variant | MODIFIER | HG00621.hp1 HG01358.hp2 HG03654.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0039 | a0001c0001t0001g0111 a0001c0001t0001g0143 a0001c0001t0001g0160 others(3): Show |
6 | 274 | 0.0219 | -6 | c.67+ others(23): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121239178 | CTATATA | C | intron_variant | MODIFIER | HG01071.hp1 HG01074.hp2 HG01361.hp2 others(7): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0002a0002c0002t0005others(2): Show | a0001c0003t0004g0260 a0002c0002t0002g0014 a0002c0002t0002g0017 others(7): Show |
10 | 274 | 0.0365 | -6 | c.68- others(23): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121372879 | GCACACA | G | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG03579.hp1 others(1): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0055a0003c0004t0018a0003c0004t0022 | a0001c0003t0055g0265 a0003c0004t0018g0001 a0003c0004t0018g0002 others(1): Show |
4 | 274 | 0.0146 | -6 | c.487 others(23): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121372900 | CACACAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(141): Show |
a0001a0008 | a0001c0001a0001c0008a0008c0013 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(22): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(141): Show |
144 | 274 | 0.5256 | -6 | c.487 others(23): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206241911 | CGTGTGT | C | intron_variant | MODIFIER | HG01884.hp1 HG03041.hp2 NA18522.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0007a0001c0006t0009 | a0001c0003t0007g0125 a0001c0003t0007g0144 a0001c0006t0009g0130 |
3 | 182 | 0.0165 | -6 | c.67+ others(23): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206303888 | TCACACA | T | intron_variant | MODIFIER | HG00735.hp2 HG02004.hp1 NA19009.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0003 | a0001c0001t0001g0083 a0001c0008t0003g0100 a0001c0008t0003g0106 |
3 | 182 | 0.0165 | -6 | c.260 others(21): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206372958 | TTCTTTC | T | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01261.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0090 others(19): Show |
22 | 182 | 0.1209 | -6 | c.424 others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206373099 | CTTTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 HG02922.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0007 | a0001c0001t0001g0053 a0001c0001t0001g0145 a0001c0001t0001g0167 others(6): Show |
9 | 182 | 0.0495 | -6 | c.424 others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206418886 | CTCTGTG | C | intron_variant | MODIFIER | HG03669.hp1 NA19012.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0035 | a0001c0003t0002g0060 a0001c0003t0035g0122 |
2 | 182 | 0.0110 | -6 | c.144 others(23): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206418888 | CTGTGTG | C | intron_variant | MODIFIER | HG00621.hp1 HG02109.hp2 HG02451.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0031a0001c0003t0004a0001c0003t0006others(4): Show | a0001c0001t0031g0126 a0001c0003t0004g0074 a0001c0003t0004g0079 others(15): Show |
18 | 182 | 0.0989 | -6 | c.144 others(23): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206461900 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(52): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0031others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0014 others(52): Show |
55 | 182 | 0.3022 | -6 | c.*50 others(15): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 23/23 | 504 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SRGAP3_chr3_8975591_9254646 | 9096937 | GTATATA | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01255.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0012 a0001c0001t0001g0095 a0001c0001t0001g0117 others(20): Show |
23 | 228 | 0.1009 | -6 | c.423 others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9096976 | TATATAC | T | intron_variant | MODIFIER | HG02683.hp1 HG03041.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0034a0001c0006t0006 | a0001c0001t0001g0112 a0001c0001t0034g0065 a0001c0006t0006g0151 |
3 | 228 | 0.0132 | -6 | c.423 others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9141551 | GGGGTGT | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0023a0001c0002t0010a0001c0003t0014others(1): Show | a0001c0001t0023g0071 a0001c0002t0010g0001 a0001c0002t0010g0002 others(3): Show |
6 | 228 | 0.0263 | -6 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9141553 | GGTGTGT | G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0072 others(8): Show |
11 | 228 | 0.0483 | -6 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9183767 | AACACAC | A | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0160 |
3 | 228 | 0.0132 | -6 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4199364 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02280.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0280 a0001c0001t0006g0017 others(22): Show |
25 | 358 | 0.0698 | -6 | c.260 others(23): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 3/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4210948 | TGAATCA | T | intron_variant | MODIFIER | NA18952.hp1 NA19085.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0002g0035 |
3 | 358 | 0.0084 | -6 | c.62- others(21): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRP19_chr5_112856287_112874788 | 112866034 | CTTTTAT | C | intron_variant | MODIFIER | HG03471.hp1 HG06807.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0026 a0001c0002t0007g0033 |
4 | 408 | 0.0098 | -6 | c.301 others(23): Show |
SRP19 | ENSG00000153037.15 | transcript | ENST00000505459.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |