| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(618): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 323 | 0.0031 | 625 | c.-36 others(636): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(618): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015 | 1 | 386 | 0.0026 | 625 | c.-46 others(636): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 894220 | T | TATCCGCC others(618): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01258.hp1 |
a0001a0003 | a0001c0001a0001c0010a0003c0009 | a0001c0001t0001a0001c0010t0001a0003c0009t0001 | a0001c0001t0001g0177a0001c0010t0001g0272a0003c0009t0001g0005 | 3 | 294 | 0.0102 | 625 | c.664 others(642): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 894220 | T | TATCCGCC others(618): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0002a0003c0009t0001g0003 | 2 | 294 | 0.0068 | 625 | c.664 others(642): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
| LRRC36_chr16_67321815_67390204 | 67341007 | G | GTATTCTA others(618): Show |
intron_variant | MODIFIER | HG00280.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0141 | 2 | 194 | 0.0103 | 625 | c.71- others(638): Show |
LRRC36 | ENSG00000159708.18 | transcript | ENST00000329956.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| LRRC36_chr16_67321815_67390204 | 67341007 | G | GTATTCTA others(618): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 194 | 0.0052 | 625 | c.71- others(638): Show |
LRRC36 | ENSG00000159708.18 | transcript | ENST00000329956.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1929778 | T | TCCCCACT others(618): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129a0001c0001t0002g0130 | 2 | 264 | 0.0076 | 625 | c.180 others(644): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(618): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 288 | 0.0035 | 625 | c.-32 others(636): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | ||||||
| MED16_chr19_862963_898187 | 871898 | A | AGGGGGGA others(618): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010 | 1 | 56 | 0.0179 | 625 | c.209 others(640): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
| MYO7A_chr11_77123246_77220241 | 77192891 | A | AGTGATGG others(618): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03516.hp2 HG06807.hp2 |
a0005a0019a0039 | a0005c0040a0019c0064a0039c0043 | a0005c0040t0004a0019c0064t0004a0039c0043t0004 | a0005c0040t0004g0330a0019c0064t0004g0245a0039c0043t0004g0331 | 3 | 356 | 0.0084 | 625 | c.415 others(642): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MYO7A_chr11_77123246_77220241 | 77192891 | A | AGTGATGG others(618): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02486.hp2 others(7): Show |
a0003a0005a0008others(4): Show | a0003c0001a0005c0008a0005c0052others(5): Show | a0003c0001t0001a0005c0008t0001a0005c0052t0001others(5): Show | a0003c0001t0001g0123a0003c0001t0001g0323a0005c0008t0001g0322others(7): Show | 10 | 356 | 0.0281 | 625 | c.415 others(642): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAT others(618): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0007 | 1 | 66 | 0.0152 | 625 | c.474 others(644): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(618): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0053 | a0001c0053t0004 | a0001c0053t0004g0176 | 1 | 324 | 0.0031 | 625 | c.140 others(642): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(618): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0040 | a0001c0040t0026 | a0001c0040t0026g0058 | 1 | 324 | 0.0031 | 625 | c.140 others(642): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| OPHN1_chrX_68037344_68438495 | 68326722 | A | AGGGAGGT others(618): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18945.hp1 NA18960.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0011a0001c0001t0029others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0049a0001c0001t0001g0092others(3): Show | 6 | 155 | 0.0387 | 625 | c.155 others(644): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
| PAK2_chr3_196734857_196837647 | 196811297 | C | CTTCCTTC others(618): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0127 | 1 | 178 | 0.0056 | 625 | c.773 others(640): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PERM1_chr1_970198_987093 | 976708 | A | ACCCCCAC others(618): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 408 | 0.0025 | 625 | c.215 others(640): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 976843 | C | CAACCCCG others(618): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 408 | 0.0049 | 625 | c.215 others(642): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PITPNM3_chr17_6446263_6561555 | 6561376 | C | CCTCTCCT others(618): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 218 | 0.0046 | 625 | c.-49 others(636): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4822 | chr17 | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48834567 | C | CCTGGACT others(618): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0233 | 1 | 300 | 0.0033 | 625 | c.*27 others(636): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2529 | chr19 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 976843 | C | CAACCCCG others(618): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 422 | 0.0024 | 625 | c.*22 others(636): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 979 | chr1 | TogoVar | ||||||
| POU2F3_chr11_120235140_120324945 | 120267745 | A | AAAAAAAA others(618): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0082a0002c0002t0002g0189 | 2 | 320 | 0.0063 | 625 | c.98- others(640): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3165939 | A | ACTCACCA others(618): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0100 | 1 | 210 | 0.0048 | 625 | c.38- others(642): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3165939 | A | ACTCACCA others(618): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 210 | 0.0048 | 625 | c.38- others(642): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PTPRH_chr19_55176247_55214501 | 55207819 | A | AGGGAGGA others(618): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 378 | 0.0027 | 625 | c.52- others(638): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(618): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0225 | 1 | 295 | 0.0034 | 625 | c.809 others(642): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(618): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 295 | 0.0034 | 625 | c.809 others(642): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(618): Show |
intron_variant | MODIFIER | HG03516.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0268a0001c0001t0008g0265 | 2 | 295 | 0.0068 | 625 | c.809 others(642): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(618): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0018 | a0001c0001t0001g0182a0002c0003t0018g0101 | 2 | 295 | 0.0068 | 625 | c.809 others(642): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(618): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(89): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0117a0001c0001t0001g0118others(89): Show | 92 | 295 | 0.3119 | 625 | c.809 others(642): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(618): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0006 | a0001c0006t0032 | a0001c0006t0032g0270 | 1 | 295 | 0.0034 | 625 | c.809 others(642): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(618): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0086a0001c0001t0021g0001 | 3 | 295 | 0.0102 | 625 | c.809 others(642): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(618): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03453.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0002 | a0001c0001t0005g0105a0002c0003t0002g0293 | 2 | 295 | 0.0068 | 625 | c.809 others(642): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(618): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 276 | 0.0036 | 625 | c.132 others(642): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
| SART1_chr11_65956734_65985137 | 65971059 | A | AGCTGAGG others(618): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18967.hp2 NA19057.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0137a0002c0001t0001g0138a0002c0001t0001g0139 | 3 | 384 | 0.0078 | 625 | c.157 others(644): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SGPP2_chr2_222419543_222567621 | 222556795 | T | TCCCCATC others(618): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0050 | a0001c0001t0011g0078a0001c0001t0011g0083a0001c0001t0050g0081 | 3 | 272 | 0.0110 | 625 | c.649 others(642): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2281863 | C | CGAGAAGA others(618): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 330 | 0.0030 | 625 | c.970 others(644): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2281964 | T | TGGCGGAG others(618): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0189 | 1 | 330 | 0.0030 | 625 | c.970 others(644): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLC25A37_chr8_23523956_23580463 | 23556483 | T | TCCAAAGT others(618): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0341 | 1 | 406 | 0.0025 | 625 | c.211 others(642): Show |
SLC25A37 | ENSG00000147454.14 | transcript | ENST00000519973.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(618): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 625 | c.*12 others(636): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 246325049 | A | AGGAAGGA others(618): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0022 | 1 | 150 | 0.0067 | 625 | c.531 others(642): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1222577 | C | CGTCTCCC others(618): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0053 | 1 | 190 | 0.0053 | 625 | c.719 others(644): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1223187 | A | ACCGGCGC others(618): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0153 | 1 | 190 | 0.0053 | 625 | c.719 others(644): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
| SPIRE2_chr16_89823475_89876319 | 89852377 | C | CCCATATT others(618): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 356 | 0.0028 | 625 | c.645 others(642): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(618): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 364 | 0.0028 | 625 | c.157 others(644): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | ||||||
| SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(618): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG01261.hp1 others(22): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0059a0001c0001t0001g0101a0001c0001t0001g0160others(22): Show | 25 | 364 | 0.0687 | 625 | c.157 others(644): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | ||||||
| SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(618): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0298 | 1 | 364 | 0.0028 | 625 | c.157 others(644): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96415743 | C | CTCTCTCT others(618): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 256 | 0.0039 | 625 | c.924 others(642): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2377593 | T | TCTCCCCT others(618): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0098 | 1 | 114 | 0.0088 | 625 | c.-25 others(644): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(618): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0002 | 1 | 114 | 0.0088 | 625 | c.-25 others(644): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |