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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SFI1_chr22_31491536_31623588 | 31525717 | CATAGATA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01346.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0006a0005c0005others(1): Show | a0001c0001t0001a0002c0006t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0130 a0002c0006t0001g0024 a0002c0006t0001g0149 others(11): Show |
14 | 35 | 0.4000 | -20 | c.93- others(35): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 53001925 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02970.hp2 HG03516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0313 others(3): Show |
6 | 79 | 0.0759 | -20 | c.-13 others(41): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53014472 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 307 | 0.0033 | -20 | c.-13 others(41): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53014476 | AAAAACAA others(13): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp1 others(90): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0040 a0001c0001t0001g0172 a0001c0001t0001g0173 others(90): Show |
93 | 124 | 0.7500 | -20 | c.-13 others(41): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53042765 | AGATTTTA others(13): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0308 others(4): Show |
7 | 326 | 0.0215 | -20 | c.-13 others(39): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7228672 | CTTCTTTC others(13): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0007 | a0001c0001t0003g0022 a0001c0002t0007g0038 |
2 | 38 | 0.0526 | -20 | c.112 others(37): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7315038 | GAGAAAGA others(13): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 30 | 0.0333 | -20 | c.437 others(39): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7392983 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0029 | 1 | 85 | 0.0118 | -20 | c.-51 others(39): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
SFN_chr1_26858149_26869456 | 26868248 | TTCTCTCT others(13): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 68 | 0.0294 | -20 | c.*42 others(31): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3793 | chr1 | TogoVar | |||||||
SFRP4_chr7_37900932_37921817 | 37905472 | CTATCTAT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03927.hp1 |
a0002a0003 | a0002c0006a0003c0002 | a0002c0006t0015a0003c0002t0002 | a0002c0006t0015g0026 a0003c0002t0002g0003 |
2 | 463 | 0.0043 | -20 | c.*19 others(31): Show |
SFRP4 | ENSG00000106483.12 | transcript | ENST00000436072.7 | protein_coding | 459 | chr7 | TogoVar | |||||||
SFRP4_chr7_37900932_37921817 | 37905476 | CTATCTAT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00733.hp2 others(27): Show |
a0002a0003 | a0002c0005a0003c0002a0003c0010 | a0002c0005t0007a0003c0002t0005a0003c0010t0014 | a0002c0005t0007g0006 a0003c0002t0005g0005 a0003c0010t0014g0024 |
30 | 451 | 0.0665 | -20 | c.*19 others(31): Show |
SFRP4 | ENSG00000106483.12 | transcript | ENST00000436072.7 | protein_coding | 455 | chr7 | TogoVar | |||||||
SFRP4_chr7_37900932_37921817 | 37921093 | CAGGTTAT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0062 | 1 | 470 | 0.0021 | -20 | c.-45 others(31): Show |
SFRP4 | ENSG00000106483.12 | transcript | ENST00000436072.7 | protein_coding | 4277 | chr7 | TogoVar | |||||||
SFTPA1_chr10_79605939_79620443 | 79613987 | CTACACCA others(13): Show |
C | frameshift_variant | HIGH | NA18963.hp2 | a0008 | a0008c0020 | a0008c0020t0032 | a0008c0020t0032g0001 | 1 | 470 | 0.0021 | -20 | c.622 others(27): Show |
p.Tyr others(5): Show |
SFTPA1 | ENSG00000122852.15 | transcript | ENST00000398636.8 | protein_coding | 6/6 | 760/2215 | 622/747 | 208/248 | chr10 | TogoVar | |||
SFXN1_chr5_175473560_175534742 | 175500403 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0172 | 1 | 68 | 0.0147 | -20 | c.164 others(37): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524121 | AAAAAATA others(13): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 a0001c0001t0003g0130 |
2 | 342 | 0.0058 | -20 | c.872 others(37): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524123 | AAAATATA others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01192.hp1 HG01192.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0003g0035 others(3): Show |
6 | 328 | 0.0183 | -20 | c.872 others(37): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524125 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01433.hp1 HG01884.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025a0001c0001t0050 | a0001c0001t0001g0101 a0001c0001t0025g0114 a0001c0001t0025g0133 others(1): Show |
4 | 327 | 0.0122 | -20 | c.872 others(37): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN3_chr10_101026234_101046241 | 101027679 | GATCACAT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 442 | 0.0023 | -20 | c.-40 others(31): Show |
SFXN3 | ENSG00000107819.15 | transcript | ENST00000393459.6 | protein_coding | 3554 | chr10 | TogoVar | |||||||
SFXN3_chr10_101026234_101046241 | 101044717 | CATATATA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(151): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(61): Show |
154 | 313 | 0.4920 | -20 | c.*51 others(31): Show |
SFXN3 | ENSG00000107819.15 | transcript | ENST00000393459.6 | protein_coding | 3477 | chr10 | TogoVar | |||||||
SFXN3_chr10_101026234_101046241 | 101044743 | TATATATA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0002g0005 others(16): Show |
42 | 442 | 0.0950 | -20 | c.*51 others(31): Show |
SFXN3 | ENSG00000107819.15 | transcript | ENST00000393459.6 | protein_coding | 3503 | chr10 | TogoVar | |||||||
SFXN4_chr10_119135767_119170714 | 119169937 | TGTGTTGG others(13): Show |
T | upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 430 | 0.0023 | -20 | c.-43 others(31): Show |
SFXN4 | ENSG00000183605.17 | transcript | ENST00000355697.7 | protein_coding | 4224 | chr10 | TogoVar | |||||||
SGCA_chr17_50161005_50180928 | 50166753 | ACACCCTC others(13): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02809.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0026 a0002c0003t0001g0076 |
4 | 413 | 0.0097 | -20 | c.38- others(33): Show |
SGCA | ENSG00000108823.17 | transcript | ENST00000262018.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGCB_chr4_52015706_52043299 | 52031392 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG02129.hp2 NA18951.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0051 a0001c0001t0002g0078 a0001c0001t0018g0065 |
3 | 239 | 0.0126 | -20 | c.244 others(37): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
SGCB_chr4_52015706_52043299 | 52031406 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(37): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0030 others(19): Show |
40 | 218 | 0.1835 | -20 | c.244 others(37): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
SGCB_chr4_52015706_52043299 | 52034331 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01517.hp2 HG02300.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0012 a0001c0001t0001g0110 a0001c0001t0003g0030 others(2): Show |
9 | 12 | 0.7500 | -20 | c.34- others(33): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156444097 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0029 | 1 | 148 | 0.0068 | -20 | c.193 others(39): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156504390 | GTGTATAT others(13): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(9): Show | a0001c0001t0001g0133 a0001c0001t0003g0125 a0001c0001t0030g0135 others(10): Show |
13 | 104 | 0.1250 | -20 | c.193 others(37): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156524094 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(5): Show | a0001c0001t0001g0025 a0001c0001t0009g0036 a0001c0001t0014g0132 others(6): Show |
9 | 16 | 0.5625 | -20 | c.294 others(39): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156558088 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01891.hp1 HG02083.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0122 a0001c0001t0005g0129 others(15): Show |
18 | 29 | 0.6207 | -20 | c.295 others(39): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156695491 | AGATAGAT others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02056.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(10): Show | a0001c0001t0006g0038 a0001c0001t0006g0066 a0001c0001t0007g0138 others(12): Show |
15 | 148 | 0.1014 | -20 | c.575 others(39): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156695511 | GGATAGAT others(13): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01169.hp1 HG01891.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0004a0001c0002t0044 | a0001c0001t0014g0055 a0001c0001t0014g0132 a0001c0002t0004g0106 others(1): Show |
4 | 60 | 0.0667 | -20 | c.575 others(39): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCE_chr7_94579980_94661133 | 94604806 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 52 | 0.0192 | -20 | c.663 others(37): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SGCE_chr7_94579980_94661133 | 94615365 | AATAGATA others(13): Show |
A | intron_variant | MODIFIER | HG03492.hp2 NA18948.hp1 NA18957.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0100 others(3): Show |
10 | 44 | 0.2273 | -20 | c.662 others(37): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14325743 | CACACATA others(13): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01346.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0002g0079 others(5): Show |
8 | 96 | 0.0833 | -20 | c.235 others(37): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14325747 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(9): Show | a0001c0001t0001g0075 a0001c0001t0005g0090 a0001c0001t0017g0011 others(9): Show |
12 | 41 | 0.2927 | -20 | c.235 others(37): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14375127 | CAGACAGA others(13): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0033a0001c0001t0088 | a0001c0001t0012g0004 a0001c0001t0033g0003 a0001c0001t0088g0054 |
3 | 102 | 0.0294 | -20 | c.235 others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14525143 | CATAGATA others(13): Show |
C | intron_variant | MODIFIER | HG01975.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0080a0001c0001t0084 | a0001c0001t0080g0089 a0001c0001t0084g0101 |
2 | 42 | 0.0476 | -20 | c.234 others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14525177 | TAGATAGA others(13): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0032a0001c0001t0035 | a0001c0001t0011g0042 a0001c0001t0032g0016 a0001c0001t0035g0014 |
3 | 102 | 0.0294 | -20 | c.234 others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14551541 | TAATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0032a0001c0001t0035others(8): Show | a0001c0001t0002g0079 a0001c0001t0032g0016 a0001c0001t0035g0014 others(8): Show |
11 | 96 | 0.1146 | -20 | c.234 others(37): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14594177 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0062 | 1 | 22 | 0.0455 | -20 | c.40- others(37): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14656531 | TTTTTTCT others(13): Show |
T | intron_variant | MODIFIER | HG03942.hp1 NA19000.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0080 | a0001c0001t0001g0092 a0001c0001t0017g0011 a0001c0001t0080g0089 |
3 | 102 | 0.0294 | -20 | c.40- others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14702813 | GTAGATAG others(13): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA19000.hp1 NA19000.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0029a0001c0001t0060a0001c0001t0062others(3): Show | a0001c0001t0029g0018 a0001c0001t0060g0071 a0001c0001t0062g0082 others(3): Show |
6 | 32 | 0.1875 | -20 | c.40- others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14862535 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0070 | 1 | 14 | 0.0714 | -20 | c.40- others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14885985 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp2 NA19043.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0053a0001c0001t0059 | a0001c0001t0021g0015 a0001c0001t0053g0055 a0001c0001t0059g0056 |
3 | 35 | 0.0857 | -20 | c.40- others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14946005 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0045 | 1 | 9 | 0.1111 | -20 | c.39+ others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 15097846 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(10): Show | a0001c0001t0001g0080 a0001c0001t0011g0042 a0001c0001t0015g0005 others(10): Show |
13 | 102 | 0.1275 | -20 | c.39+ others(39): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGF29_chr16_28548920_28596790 | 28564755 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0121 a0001c0001t0001g0132 others(3): Show |
7 | 324 | 0.0216 | -20 | c.-16 others(39): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SGF29_chr16_28548920_28596790 | 28570544 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00735.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0231 others(30): Show |
40 | 144 | 0.2778 | -20 | c.-15 others(39): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66549137 | GCCTTCCT others(13): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02258.hp1 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0007t0004a0002c0002t0001 | a0001c0001t0001g0004 a0001c0007t0004g0118 a0001c0007t0004g0119 others(2): Show |
5 | 56 | 0.0893 | -20 | c.10+ others(37): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66589163 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp2 HG01884.hp1 others(6): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0128 a0002c0002t0002g0139 a0002c0002t0003g0198 others(6): Show |
9 | 72 | 0.1250 | -20 | c.11- others(37): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |