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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC18B1_chr6_132764370_132803637 | 132795169 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp1 others(55): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0017others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0005t0003others(11): Show | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(55): Show |
58 | 304 | 0.1908 | -1 | c.183 others(9): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132796194 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp1 others(76): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0017others(10): Show | a0001c0001t0007a0001c0005t0003a0001c0017t0003others(20): Show | a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0051 others(76): Show |
79 | 304 | 0.2599 | -1 | c.183 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132796354 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01070.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0015 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(8): Show |
11 | 304 | 0.0362 | -1 | c.183 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132796532 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(93): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0016a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(18): Show | a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0100 others(93): Show |
96 | 304 | 0.3158 | -1 | c.183 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132799537 | CA | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02280.hp2 others(14): Show |
a0002a0008a0010others(1): Show | a0002c0003a0008c0012a0010c0018others(1): Show | a0002c0003t0003a0002c0003t0004a0002c0003t0010others(4): Show | a0002c0003t0003g0027 a0002c0003t0004g0071 a0002c0003t0004g0072 others(14): Show |
17 | 304 | 0.0559 | -1 | c.-10 others(6): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 901 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132800379 | CA | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01516.hp2 HG03130.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0012others(1): Show | a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0009g0246 others(4): Show |
7 | 304 | 0.0230 | -1 | c.-19 others(6): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 1743 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132800745 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01975.hp2 HG02055.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0016t0001others(3): Show | a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0123 others(15): Show |
18 | 304 | 0.0592 | -1 | c.-22 others(6): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2109 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132801049 | AT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG02015.hp1 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0011 | a0002c0004t0005g0003 a0002c0004t0005g0004 a0002c0004t0005g0006 others(7): Show |
10 | 304 | 0.0329 | -1 | c.-25 others(6): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2413 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132802296 | AT | A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(19): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0005t0003others(3): Show | a0001c0001t0001g0193 a0001c0001t0001g0216 a0001c0001t0001g0242 others(19): Show |
22 | 304 | 0.0724 | -1 | c.-38 others(6): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 3660 | chr6 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45509608 | GC | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(190): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(45): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(169): Show |
193 | 318 | 0.6069 | -1 | c.*60 others(6): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 2956 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45510932 | CA | C | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02630.hp1 others(4): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0005 | a0001c0004t0034a0002c0002t0019a0003c0005t0013others(1): Show | a0001c0004t0034g0239 a0002c0002t0019g0122 a0002c0002t0019g0240 others(4): Show |
7 | 318 | 0.0220 | -1 | c.*47 others(6): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 1632 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45510961 | AT | A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG03130.hp2 others(2): Show |
a0001a0008 | a0001c0004a0008c0009 | a0001c0004t0009a0001c0004t0022a0008c0009t0009 | a0001c0004t0009g0264 a0001c0004t0009g0265 a0001c0004t0009g0266 others(2): Show |
5 | 318 | 0.0157 | -1 | c.*46 others(6): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 1603 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45511002 | AC | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(82): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0004t0009a0001c0004t0022others(15): Show | a0001c0001t0001g0156 a0001c0004t0009g0264 a0001c0004t0009g0265 others(69): Show |
85 | 318 | 0.2673 | -1 | c.*46 others(6): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 1562 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45511045 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(206): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(43): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(179): Show |
209 | 318 | 0.6572 | -1 | c.*46 others(6): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 1519 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45515163 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(184): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(39): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(162): Show |
187 | 318 | 0.5881 | -1 | c.*49 others(5): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 6/6 | 494 | chr21 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45519570 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(165): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(38): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(144): Show |
168 | 318 | 0.5283 | -1 | c.129 others(10): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 5/5 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45521020 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(162): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(142): Show |
165 | 318 | 0.5189 | -1 | c.129 others(10): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 5/5 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45525829 | CG | C | frameshift_variant | HIGH | NA18978.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0131 | 1 | 318 | 0.0031 | -1 | c.128 others(5): Show |
p.Pro others(5): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 5/6 | 1402/4991 | 1280/1776 | 427/591 | chr21 | TogoVar | |||
SLC19A1_chr21_45507565_45547440 | 45526488 | TC | T | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02559.hp1 others(7): Show |
a0001a0002a0008 | a0001c0004a0002c0002a0008c0009 | a0001c0004t0009a0001c0004t0022a0001c0004t0023others(4): Show | a0001c0004t0009g0264 a0001c0004t0009g0265 a0001c0004t0009g0266 others(7): Show |
10 | 318 | 0.0315 | -1 | c.115 others(9): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 4/5 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45527184 | GT | G | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02486.hp2 others(9): Show |
a0001a0002a0008 | a0001c0004a0001c0007a0002c0002others(1): Show | a0001c0004t0009a0001c0004t0022a0001c0004t0023others(6): Show | a0001c0004t0009g0264 a0001c0004t0009g0265 a0001c0004t0009g0266 others(9): Show |
12 | 318 | 0.0377 | -1 | c.115 others(10): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 4/5 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45527518 | GC | G | intron_variant | MODIFIER | HG01243.hp2 HG02897.hp1 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 a0002c0002t0002g0138 a0002c0002t0002g0143 |
3 | 318 | 0.0094 | -1 | c.115 others(10): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 4/5 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45527940 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(32): Show | a0001c0001t0001g0030 a0001c0001t0001g0105 a0001c0001t0001g0110 others(119): Show |
148 | 318 | 0.4654 | -1 | c.115 others(10): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 4/5 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45530943 | GA | G | frameshift_variant | HIGH | HG02055.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0209 | 1 | 318 | 0.0031 | -1 | c.977 others(4): Show |
p.Phe others(5): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 4/6 | 1099/4991 | 977/1776 | 326/591 | chr21 | TogoVar | |||
SLC19A1_chr21_45507565_45547440 | 45531559 | TC | T | frameshift_variant | HIGH | NA18978.hp2 | a0010 | a0010c0010 | a0010c0010t0012 | a0010c0010t0012g0034 | 1 | 318 | 0.0031 | -1 | c.778 others(4): Show |
p.Asp others(5): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/6 | 900/4991 | 778/1776 | 260/591 | chr21 | TogoVar | |||
SLC19A1_chr21_45507565_45547440 | 45532622 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(149): Show |
a0001a0002a0003others(4): Show | a0001c0004a0002c0002a0002c0003others(6): Show | a0001c0004t0010a0001c0004t0034a0001c0004t0035others(28): Show | a0001c0004t0010g0241 a0001c0004t0034g0239 a0001c0004t0035g0228 others(123): Show |
152 | 318 | 0.4780 | -1 | c.190 others(8): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 2/5 | chr21 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169459905 | GA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0018 others(11): Show |
21 | 386 | 0.0544 | -1 | c.*59 others(6): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 4003 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169463663 | CA | C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01884.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(18): Show |
24 | 386 | 0.0622 | -1 | c.*21 others(6): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 245 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169466526 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0115 others(21): Show |
29 | 386 | 0.0751 | -1 | c.136 others(9): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 5/5 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169470552 | AC | A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01123.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0046 a0001c0001t0002g0067 a0001c0001t0004g0014 others(8): Show |
16 | 386 | 0.0415 | -1 | c.808 others(8): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169471060 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0149 others(12): Show |
20 | 386 | 0.0518 | -1 | c.808 others(8): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169473409 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(156): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0028 others(101): Show |
159 | 386 | 0.4119 | -1 | c.808 others(9): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169476144 | TA | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0007 a0001c0001t0003g0049 a0001c0001t0003g0050 others(21): Show |
36 | 386 | 0.0933 | -1 | c.807 others(9): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169478337 | CT | C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02056.hp2 others(16): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0180 others(11): Show |
19 | 386 | 0.0492 | -1 | c.205 others(8): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169478523 | AT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(170): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(103): Show |
173 | 386 | 0.4482 | -1 | c.205 others(8): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169484756 | GA | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(208): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(132): Show |
211 | 386 | 0.5466 | -1 | c.204 others(8): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SLC19A2_chr1_169458909_169490944 | 169490735 | CA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01069.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(30): Show |
47 | 386 | 0.1218 | -1 | c.-49 others(6): Show |
SLC19A2 | ENSG00000117479.15 | transcript | ENST00000236137.10 | protein_coding | 4792 | chr1 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227680055 | TA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01243.hp1 others(42): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0011others(1): Show | a0002c0002t0005a0002c0002t0054a0002c0002t0055others(7): Show | a0002c0002t0005g0004 a0002c0002t0005g0073 a0002c0002t0005g0163 others(40): Show |
45 | 392 | 0.1148 | -1 | c.*73 others(6): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 3707 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227681726 | TG | T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02257.hp1 others(27): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0011others(1): Show | a0002c0002t0005a0002c0002t0054a0002c0002t0055others(6): Show | a0002c0002t0005g0004 a0002c0002t0005g0073 a0002c0002t0005g0163 others(25): Show |
30 | 392 | 0.0765 | -1 | c.*56 others(6): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 2036 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227683214 | TG | T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01192.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0031 | a0001c0001t0008g0014 a0001c0001t0008g0072 a0001c0001t0008g0092 others(8): Show |
12 | 392 | 0.0306 | -1 | c.*41 others(6): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 548 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227693187 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 a0001c0001t0003g0291 a0001c0001t0003g0360 |
3 | 392 | 0.0077 | -1 | c.117 others(10): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227696084 | GA | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(366): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(346): Show |
369 | 392 | 0.9413 | -1 | c.980 others(6): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227697039 | TG | T | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02622.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0004 a0002c0002t0005g0073 a0002c0002t0005g0163 others(4): Show |
9 | 392 | 0.0230 | -1 | c.980 others(8): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227697175 | TC | T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02257.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0005others(3): Show | a0001c0001t0002g0134 a0002c0002t0001g0177 a0002c0002t0001g0228 others(16): Show |
21 | 392 | 0.0536 | -1 | c.980 others(9): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227698886 | GT | G | frameshift_variant | HIGH | NA18972.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0142 | 1 | 392 | 0.0026 | -1 | c.828 others(4): Show |
p.Lys others(5): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 3/6 | 916/5213 | 828/1491 | 276/496 | chr2 | TogoVar | |||
SLC19A3_chr2_227678763_227723028 | 227698988 | TC | T | frameshift_variant | HIGH | NA18972.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0142 | 1 | 392 | 0.0026 | -1 | c.726 others(4): Show |
p.Lys others(5): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 3/6 | 814/5213 | 726/1491 | 242/496 | chr2 | TogoVar | |||
SLC19A3_chr2_227678763_227723028 | 227699056 | GT | G | frameshift_variant | HIGH | NA18972.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0142 | 1 | 392 | 0.0026 | -1 | c.658 others(4): Show |
p.Thr others(5): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 3/6 | 746/5213 | 658/1491 | 220/496 | chr2 | TogoVar | |||
SLC19A3_chr2_227678763_227723028 | 227700371 | CA | C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01243.hp1 others(34): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0005a0002c0002t0006others(5): Show | a0002c0002t0001g0177 a0002c0002t0001g0228 a0002c0002t0005g0004 others(32): Show |
37 | 392 | 0.0944 | -1 | c.151 others(8): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227701633 | AT | A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01255.hp1 others(15): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0005a0002c0002t0006others(4): Show | a0002c0002t0001g0228 a0002c0002t0005g0226 a0002c0002t0006g0267 others(15): Show |
18 | 392 | 0.0459 | -1 | c.150 others(8): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227701635 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0002g0242 others(83): Show |
90 | 392 | 0.2296 | -1 | c.150 others(8): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SLC19A3_chr2_227678763_227723028 | 227702395 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(281): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
284 | 392 | 0.7245 | -1 | c.-2- others(6): Show |
SLC19A3 | ENSG00000135917.16 | transcript | ENST00000644224.2 | protein_coding | 1/5 | chr2 | TogoVar |