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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC44A1_chr9_105239651_105402346 | 105320639 | TTTATTGG others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0051 | a0001c0001t0001g0082 a0001c0001t0051g0081 |
2 | 142 | 0.0141 | -12 | c.269 others(31): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC44A1_chr9_105239651_105402346 | 105323992 | CTTTTTGT others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02257.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0021a0002c0002t0022others(4): Show | a0002c0002t0004g0122 a0002c0002t0004g0130 a0002c0002t0004g0137 others(7): Show |
10 | 142 | 0.0704 | -12 | c.270 others(31): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC44A1_chr9_105239651_105402346 | 105351620 | AAGAGAGA others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 HG02818.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0071a0001c0001t0085a0002c0002t0004others(9): Show | a0001c0001t0071g0142 a0001c0001t0085g0053 a0002c0002t0004g0005 others(11): Show |
14 | 142 | 0.0986 | -12 | c.500 others(29): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC44A1_chr9_105239651_105402346 | 105351632 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0046 | 1 | 142 | 0.0070 | -12 | c.500 others(29): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC44A4_chr6_31858192_31883997 | 31862981 | TGGCCCTC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 433 | 0.0023 | -12 | c.*63 others(21): Show |
SLC44A4 | ENSG00000204385.13 | transcript | ENST00000229729.11 | protein_coding | 210 | chr6 | TogoVar | |||||||
SLC44A4_chr6_31858192_31883997 | 31868796 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 433 | 0.0023 | -12 | c.123 others(29): Show |
SLC44A4 | ENSG00000204385.13 | transcript | ENST00000229729.11 | protein_coding | 13/20 | chr6 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75238385 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG00738.hp2 others(21): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0001a0001c0003t0001a0001c0003t0010others(2): Show | a0001c0002t0001g0076 a0001c0003t0001g0060 a0001c0003t0001g0061 others(21): Show |
24 | 156 | 0.1539 | -12 | c.656 others(27): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 10/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75318370 | TGAAAGAA others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0110 others(12): Show |
15 | 156 | 0.0962 | -12 | c.102 others(31): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75351846 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02896.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 a0001c0003t0001g0151 |
2 | 156 | 0.0128 | -12 | c.53- others(29): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 3/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75476424 | TGCACGAG others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0004t0001 | a0001c0001t0012g0011 a0001c0004t0001g0023 |
2 | 156 | 0.0128 | -12 | c.13+ others(29): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75562887 | TGAAACAA others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00738.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0079 others(18): Show |
21 | 156 | 0.1346 | -12 | c.-69 others(31): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 1/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75615436 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01099.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0010others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0046 others(23): Show |
26 | 156 | 0.1667 | -12 | c.-44 others(23): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4323 | chr1 | TogoVar | |||||||
SLC45A2_chr5_33939623_33989693 | 33958768 | GTTGTATT others(5): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0070 |
4 | 440 | 0.0091 | -12 | c.889 others(29): Show |
SLC45A2 | ENSG00000164175.15 | transcript | ENST00000296589.9 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SLC45A2_chr5_33939623_33989693 | 33967783 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(95): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(83): Show |
98 | 440 | 0.2227 | -12 | c.563 others(29): Show |
SLC45A2 | ENSG00000164175.15 | transcript | ENST00000296589.9 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
SLC45A3_chr1_205652851_205685509 | 205656190 | AAAATAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(38): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0118 others(31): Show |
41 | 404 | 0.1015 | -12 | c.*30 others(23): Show |
SLC45A3 | ENSG00000158715.6 | transcript | ENST00000367145.4 | protein_coding | 1660 | chr1 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141307797 | CCCGGGGT others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0005 | a0002c0005t0012 | a0002c0005t0012g0126 | 1 | 188 | 0.0053 | -12 | c.-40 others(29): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141312333 | TTGAATGA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02922.hp2 |
a0001a0002 | a0001c0028a0002c0001 | a0001c0028t0033a0002c0001t0001 | a0001c0028t0033g0021 a0002c0001t0001g0022 |
2 | 188 | 0.0106 | -12 | c.-46 others(23): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 4046 | chr8 | TogoVar | |||||||
SLC47A1_chr17_19528854_19584034 | 19543442 | TTCCCACT others(5): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG03540.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0023a0001c0001t0029a0001c0009t0003 | a0001c0001t0023g0112 a0001c0001t0029g0111 a0001c0009t0003g0028 |
3 | 338 | 0.0089 | -12 | c.237 others(27): Show |
SLC47A1 | ENSG00000142494.13 | transcript | ENST00000270570.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC48A1_chr12_47768238_47787751 | 47782841 | ACTCACAC others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00741.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0040 | a0001c0001t0006g0006 a0001c0001t0014g0006 a0001c0001t0040g0006 |
19 | 436 | 0.0436 | -12 | c.*25 others(23): Show |
SLC48A1 | ENSG00000211584.14 | transcript | ENST00000442218.3 | protein_coding | 91 | chr12 | TogoVar | |||||||
SLC4A10_chr2_161619416_161990270 | 161640593 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02615.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0078 others(1): Show |
4 | 118 | 0.0339 | -12 | c.48+ others(29): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161660556 | ATTTCTTT others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01243.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0115 a0001c0001t0001g0116 others(3): Show |
6 | 118 | 0.0509 | -12 | c.48+ others(29): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161660615 | TCTTTCTT others(5): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 118 | 0.0085 | -12 | c.48+ others(29): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161753855 | GTTATTTA others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0067 others(1): Show |
4 | 118 | 0.0339 | -12 | c.49- others(29): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161767094 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02897.hp1 HG02922.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0087 others(5): Show |
8 | 118 | 0.0678 | -12 | c.49- others(27): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161828767 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01109.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0103 a0001c0002t0001g0002 others(11): Show |
14 | 118 | 0.1186 | -12 | c.278 others(31): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161834660 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01081.hp2 others(18): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0006 | a0001c0002t0001a0001c0002t0004a0001c0003t0002others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0008 others(18): Show |
21 | 118 | 0.1780 | -12 | c.278 others(29): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161836530 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0052 others(5): Show |
8 | 118 | 0.0678 | -12 | c.278 others(29): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161873530 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 118 | 0.0085 | -12 | c.859 others(27): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161933183 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG02055.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0061 others(7): Show |
10 | 118 | 0.0848 | -12 | c.199 others(31): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161945182 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0058 |
2 | 118 | 0.0170 | -12 | c.210 others(31): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161960363 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0116 |
3 | 118 | 0.0254 | -12 | c.286 others(31): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A10_chr2_161619416_161990270 | 161987696 | TTATATAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03516.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0115 a0001c0001t0002g0033 a0001c0001t0007g0113 |
3 | 118 | 0.0254 | -12 | c.*45 others(23): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 2427 | chr2 | TogoVar | |||||||
SLC4A11_chr20_3222422_3244190 | 3235303 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 a0001c0002t0001g0071 |
2 | 446 | 0.0045 | -12 | c.89- others(25): Show |
SLC4A11 | ENSG00000088836.14 | transcript | ENST00000642402.1 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC4A11_chr20_3222422_3244190 | 3235309 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(101): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0025 a0001c0001t0001g0159 a0001c0002t0001g0001 others(41): Show |
104 | 446 | 0.2332 | -12 | c.89- others(25): Show |
SLC4A11 | ENSG00000088836.14 | transcript | ENST00000642402.1 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC4A1AP_chr2_27658889_27699969 | 27673400 | TTCCCTCC others(5): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG01516.hp2 HG01891.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0001g0176 others(7): Show |
11 | 334 | 0.0329 | -12 | c.118 others(31): Show |
SLC4A1AP | ENSG00000163798.14 | transcript | ENST00000326019.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A1AP_chr2_27658889_27699969 | 27673434 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01346.hp1 HG02738.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 a0002c0002t0001g0072 a0002c0002t0001g0137 others(1): Show |
4 | 334 | 0.0120 | -12 | c.118 others(31): Show |
SLC4A1AP | ENSG00000163798.14 | transcript | ENST00000326019.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A1AP_chr2_27658889_27699969 | 27673990 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG01358.hp1 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0019 a0001c0003t0001g0020 a0002c0002t0001g0241 |
5 | 334 | 0.0150 | -12 | c.118 others(31): Show |
SLC4A1AP | ENSG00000163798.14 | transcript | ENST00000326019.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC4A1_chr17_44243390_44273135 | 44263700 | CCCTTCCC others(5): Show |
C | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 406 | 0.0025 | -12 | c.-68 others(27): Show |
SLC4A1 | ENSG00000004939.16 | transcript | ENST00000262418.12 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
SLC4A1_chr17_44243390_44273135 | 44271484 | TTTTCTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00673.hp2 others(58): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0008 a0001c0001t0001g0195 a0001c0001t0001g0229 others(51): Show |
61 | 406 | 0.1503 | -12 | c.-35 others(23): Show |
SLC4A1 | ENSG00000004939.16 | transcript | ENST00000262418.12 | protein_coding | 3350 | chr17 | TogoVar | |||||||
SLC4A3_chr2_219622630_219646971 | 219625557 | ACCAGGAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0100 |
2 | 360 | 0.0056 | -12 | c.-22 others(23): Show |
SLC4A3 | ENSG00000114923.17 | transcript | ENST00000358055.8 | protein_coding | 2072 | chr2 | TogoVar | |||||||
SLC4A3_chr2_219622630_219646971 | 219627549 | CGGCGGCG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0010 | a0010c0028 | a0010c0028t0001 | a0010c0028t0001g0057 | 1 | 360 | 0.0028 | -12 | c.-28 others(21): Show |
SLC4A3 | ENSG00000114923.17 | transcript | ENST00000358055.8 | protein_coding | 80 | chr2 | TogoVar | |||||||
SLC4A4_chr4_71182259_71577083 | 71190385 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0015a0001c0001t0016others(4): Show | a0001c0001t0005g0020 a0001c0001t0015g0017 a0001c0001t0016g0001 others(14): Show |
17 | 152 | 0.1118 | -12 | c.-2+ others(27): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71196834 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0059 a0001c0001t0005g0045 |
2 | 152 | 0.0132 | -12 | c.-2+ others(27): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71443116 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0121 | 1 | 152 | 0.0066 | -12 | c.965 others(29): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71466954 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG02129.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0126 a0001c0001t0002g0021 a0001c0001t0002g0022 others(5): Show |
8 | 152 | 0.0526 | -12 | c.163 others(29): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71531754 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0077 others(65): Show |
68 | 152 | 0.4474 | -12 | c.216 others(29): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71182259_71577083 | 71531821 | AGAGAGAA others(5): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 152 | 0.0066 | -12 | c.216 others(29): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71443116 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0063 | 1 | 234 | 0.0043 | -12 | c.833 others(29): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71466954 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02129.hp1 HG02280.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0227 a0001c0001t0002g0003 a0001c0001t0002g0004 others(8): Show |
11 | 234 | 0.0470 | -12 | c.149 others(29): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71531754 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0041 others(112): Show |
115 | 234 | 0.4915 | -12 | c.203 others(29): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |