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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC4A10_chr2_161619416_161990270 | 161945182 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01261.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0032 others(11): Show |
14 | 118 | 0.1186 | -8 | c.210 others(27): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A11_chr20_3222422_3244190 | 3235305 | TCTCTCAC others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01168.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0166 |
6 | 446 | 0.0135 | -8 | c.89- others(21): Show |
SLC4A11 | ENSG00000088836.14 | transcript | ENST00000642402.1 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC4A11_chr20_3222422_3244190 | 3235309 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 HG02132.hp2 others(9): Show |
a0001 | a0001c0002a0001c0004a0001c0017 | a0001c0002t0001a0001c0004t0001a0001c0017t0001 | a0001c0002t0001g0046 a0001c0002t0001g0115 a0001c0002t0001g0123 others(6): Show |
12 | 446 | 0.0269 | -8 | c.89- others(21): Show |
SLC4A11 | ENSG00000088836.14 | transcript | ENST00000642402.1 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC4A1AP_chr2_27658889_27699969 | 27673400 | TTCCCTCC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(103): Show |
160 | 334 | 0.4790 | -8 | c.118 others(27): Show |
SLC4A1AP | ENSG00000163798.14 | transcript | ENST00000326019.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A1AP_chr2_27658889_27699969 | 27673438 | CCCTCCCT others(1): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02922.hp1 NA18960.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0001 | a0001c0001t0001g0121 a0001c0003t0002g0043 a0002c0002t0001g0249 |
3 | 334 | 0.0090 | -8 | c.118 others(27): Show |
SLC4A1AP | ENSG00000163798.14 | transcript | ENST00000326019.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A1AP_chr2_27658889_27699969 | 27673990 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0064 a0001c0001t0001g0170 a0001c0007t0001g0038 others(1): Show |
4 | 334 | 0.0120 | -8 | c.118 others(27): Show |
SLC4A1AP | ENSG00000163798.14 | transcript | ENST00000326019.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A1_chr17_44243390_44273135 | 44246663 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp1 HG03195.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0012a0001c0025 | a0001c0001t0005a0001c0012t0045a0001c0012t0046others(1): Show | a0001c0001t0005g0260 a0001c0012t0045g0226 a0001c0012t0046g0125 others(1): Show |
4 | 406 | 0.0099 | -8 | c.*37 others(19): Show |
SLC4A1 | ENSG00000004939.16 | transcript | ENST00000262418.12 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SLC4A1_chr17_44243390_44273135 | 44263707 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02717.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0001c0025others(3): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0020others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0299 a0001c0001t0016g0212 others(9): Show |
13 | 406 | 0.0320 | -8 | c.-68 others(23): Show |
SLC4A1 | ENSG00000004939.16 | transcript | ENST00000262418.12 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
SLC4A1_chr17_44243390_44273135 | 44271484 | TTTTCTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(192): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0007others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 others(147): Show |
195 | 406 | 0.4803 | -8 | c.-35 others(19): Show |
SLC4A1 | ENSG00000004939.16 | transcript | ENST00000262418.12 | protein_coding | 3350 | chr17 | TogoVar | |||||||
SLC4A3_chr2_219622630_219646971 | 219637203 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 5 | 360 | 0.0139 | -8 | c.253 others(25): Show |
SLC4A3 | ENSG00000114923.17 | transcript | ENST00000358055.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71182714 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0022 |
2 | 152 | 0.0132 | -8 | c.-46 others(19): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 4544 | chr4 | TogoVar | |||||||
SLC4A4_chr4_71182259_71577083 | 71190385 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG04115.hp2 HG04199.hp2 NA18977.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0028a0001c0002t0003 | a0001c0001t0002g0125 a0001c0001t0028g0123 a0001c0002t0003g0122 others(1): Show |
4 | 152 | 0.0263 | -8 | c.-2+ others(23): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71196834 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01934.hp2 HG02129.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0092 a0001c0001t0002g0093 a0001c0001t0003g0073 others(19): Show |
22 | 152 | 0.1447 | -8 | c.-2+ others(23): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71277600 | CTCTCTCC others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02056.hp2 HG02129.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0057 a0001c0001t0001g0126 a0001c0001t0005g0087 others(8): Show |
11 | 152 | 0.0724 | -8 | c.253 others(27): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71297509 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG03710.hp2 HG04199.hp1 NA19002.hp2 |
a0001 | a0001c0002a0001c0005a0001c0011 | a0001c0002t0003a0001c0005t0001a0001c0011t0012 | a0001c0002t0003g0063 a0001c0005t0001g0074 a0001c0011t0012g0139 |
3 | 152 | 0.0197 | -8 | c.254 others(27): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71311888 | TGTGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0145 a0001c0001t0022g0053 |
2 | 152 | 0.0132 | -8 | c.254 others(27): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71348313 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02523.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0081 a0001c0001t0002g0083 a0001c0001t0003g0107 others(1): Show |
4 | 152 | 0.0263 | -8 | c.390 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71439435 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02630.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0006g0095 others(4): Show |
7 | 152 | 0.0461 | -8 | c.808 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71531754 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0059 a0001c0001t0001g0092 a0001c0001t0001g0142 others(10): Show |
13 | 152 | 0.0855 | -8 | c.216 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71536440 | GCATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 a0001c0001t0002g0093 |
2 | 152 | 0.0132 | -8 | c.244 others(27): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71348313 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG02523.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0209 others(2): Show |
5 | 234 | 0.0214 | -8 | c.258 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71366315 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0209 a0001c0001t0004g0206 |
2 | 234 | 0.0086 | -8 | c.598 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71439435 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02129.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0010 others(5): Show |
8 | 234 | 0.0342 | -8 | c.676 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71466931 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0002g0031 |
2 | 234 | 0.0086 | -8 | c.149 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71466966 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG02027.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003 | a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0004g0052 others(1): Show |
4 | 234 | 0.0171 | -8 | c.149 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71531754 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG01243.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0134 others(16): Show |
19 | 234 | 0.0812 | -8 | c.203 others(25): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71536440 | GCATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102 a0001c0001t0002g0112 a0001c0001t0002g0113 |
3 | 234 | 0.0128 | -8 | c.231 others(27): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A5_chr2_74211242_74348416 | 74219213 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01192.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0003g0184 others(24): Show |
27 | 282 | 0.0957 | -8 | c.*34 others(23): Show |
SLC4A5 | ENSG00000188687.18 | transcript | ENST00000394019.7 | protein_coding | 30/30 | chr2 | TogoVar | |||||||
SLC4A7_chr3_27367723_27489384 | 27446867 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01109.hp1 others(7): Show |
a0002 | a0002c0003a0002c0012 | a0002c0003t0001a0002c0003t0002a0002c0003t0027others(1): Show | a0002c0003t0001g0162 a0002c0003t0002g0161 a0002c0003t0002g0163 others(7): Show |
10 | 302 | 0.0331 | -8 | c.289 others(25): Show |
SLC4A7 | ENSG00000033867.18 | transcript | ENST00000454389.6 | protein_coding | 3/25 | chr3 | TogoVar | |||||||
SLC4A8_chr12_51419831_51520763 | 51424046 | AAAAAAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01099.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0016others(7): Show | a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0024 others(39): Show |
42 | 358 | 0.1173 | -8 | c.-94 others(17): Show |
SLC4A8 | ENSG00000050438.17 | transcript | ENST00000453097.7 | protein_coding | 784 | chr12 | TogoVar | |||||||
SLC50A1_chr1_155130852_155143853 | 155143114 | AGTGTGTG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02735.hp1 HG02818.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 354 | 0.0085 | -8 | c.*48 others(19): Show |
SLC50A1 | ENSG00000169241.19 | transcript | ENST00000368404.9 | protein_coding | 4262 | chr1 | TogoVar | |||||||
SLC51A_chr3_196211534_196238427 | 196217564 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(123): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(92): Show |
126 | 428 | 0.2944 | -8 | c.39- others(21): Show |
SLC51A | ENSG00000163959.10 | transcript | ENST00000296327.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC51A_chr3_196211534_196238427 | 196224705 | GGAGGAGA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0025 others(41): Show |
53 | 428 | 0.1238 | -8 | c.134 others(25): Show |
SLC51A | ENSG00000163959.10 | transcript | ENST00000296327.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC51B_chr15_65040387_65058397 | 65047795 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(141): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(37): Show |
144 | 338 | 0.4260 | -8 | c.-10 others(27): Show |
SLC51B | ENSG00000186198.4 | transcript | ENST00000334287.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC52A1_chr17_5027602_5040426 | 5036040 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02148.hp1 HG02572.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 13 | 424 | 0.0307 | -8 | c.-12 others(19): Show |
SLC52A1 | ENSG00000132517.15 | transcript | ENST00000254853.10 | protein_coding | 615 | chr17 | TogoVar | |||||||
SLC52A3_chr20_755080_773500 | 758972 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(268): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(60): Show | a0001c0001t0002g0032 a0001c0001t0002g0079 a0001c0001t0002g0100 others(132): Show |
271 | 466 | 0.5816 | -8 | c.*20 others(19): Show |
SLC52A3 | ENSG00000101276.18 | transcript | ENST00000645534.1 | protein_coding | 1107 | chr20 | TogoVar | |||||||
SLC5A10_chr17_18947165_19027565 | 18955085 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0014a0001c0004t0001others(28): Show | a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0210 others(93): Show |
97 | 354 | 0.2740 | -8 | c.111 others(25): Show |
SLC5A10 | ENSG00000154025.16 | transcript | ENST00000395645.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC5A10_chr17_18947165_19027565 | 18956196 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01099.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0009others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0009t0002others(1): Show | a0001c0001t0001g0003 a0001c0006t0001g0003 a0002c0009t0002g0193 others(7): Show |
10 | 354 | 0.0283 | -8 | c.112 others(25): Show |
SLC5A10 | ENSG00000154025.16 | transcript | ENST00000395645.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC5A10_chr17_18947165_19027565 | 18973884 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0115 a0001c0001t0001g0125 others(34): Show |
38 | 354 | 0.1073 | -8 | c.846 others(25): Show |
SLC5A10 | ENSG00000154025.16 | transcript | ENST00000395645.4 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24849587 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(12): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 others(12): Show |
15 | 378 | 0.0397 | -8 | c.-25 others(25): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24856597 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01346.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0004others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0242 a0001c0001t0001g0247 others(15): Show |
18 | 378 | 0.0476 | -8 | c.-24 others(25): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24873247 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02055.hp2 others(14): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0004a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(5): Show | a0001c0001t0001g0053 a0001c0001t0001g0090 a0001c0001t0001g0267 others(14): Show |
17 | 378 | 0.0450 | -8 | c.372 others(25): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24901950 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG03225.hp2 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0003a0002c0005a0002c0012 | a0002c0003t0001a0002c0005t0001a0002c0012t0001 | a0002c0003t0001g0127 a0002c0005t0001g0163 a0002c0012t0001g0048 |
3 | 378 | 0.0079 | -8 | c.100 others(27): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24905640 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01496.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0002others(3): Show | a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0074 others(12): Show |
15 | 378 | 0.0397 | -8 | c.100 others(25): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A12_chr11_26662020_26727060 | 26676359 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(33): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0007others(12): Show | a0001c0002t0077a0001c0003t0106a0001c0007t0060others(19): Show | a0001c0002t0077g0084 a0001c0003t0106g0100 a0001c0007t0060g0325 others(30): Show |
36 | 412 | 0.0874 | -8 | c.157 others(27): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 13/14 | chr11 | TogoVar | |||||||
SLC5A12_chr11_26662020_26727060 | 26691022 | AAAGCTGG others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01255.hp1 others(21): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0010a0001c0002t0077a0001c0003t0001others(9): Show | a0001c0002t0010g0087 a0001c0002t0077g0084 a0001c0003t0001g0082 others(17): Show |
24 | 412 | 0.0583 | -8 | c.115 others(27): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 9/14 | chr11 | TogoVar | |||||||
SLC5A12_chr11_26662020_26727060 | 26705925 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp2 others(78): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(45): Show | a0001c0001t0002g0228 a0001c0001t0002g0277 a0001c0001t0002g0279 others(70): Show |
81 | 412 | 0.1966 | -8 | c.526 others(25): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 4/14 | chr11 | TogoVar | |||||||
SLC5A12_chr11_26662020_26727060 | 26726154 | CTTCTTCC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00735.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(19): Show | a0001c0001t0002g0217 a0001c0001t0002g0241 a0001c0001t0002g0277 others(34): Show |
39 | 412 | 0.0947 | -8 | c.-44 others(19): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 4095 | chr11 | TogoVar | |||||||
SLC5A12_chr11_26662020_26727060 | 26726156 | TCTTCCTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0006a0001c0002t0004a0001c0002t0007others(56): Show | a0001c0001t0006g0004 a0001c0002t0004g0111 a0001c0002t0007g0163 others(72): Show |
79 | 412 | 0.1918 | -8 | c.-44 others(19): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 4097 | chr11 | TogoVar | |||||||
SLC5A1_chr22_32038261_32118029 | 32054665 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0209 a0001c0001t0012g0210 a0001c0001t0012g0211 |
3 | 252 | 0.0119 | -8 | c.207 others(25): Show |
SLC5A1 | ENSG00000100170.10 | transcript | ENST00000266088.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |