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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SETD1B_chr12_121799009_121837656 | 121835019 | CTTTCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(39): Show |
a0001a0004a0005others(2): Show | a0001c0002a0001c0003a0001c0012others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0003others(10): Show | a0001c0002t0001g0001a0001c0002t0003g0046a0001c0003t0003g0003others(30): Show | 42 | 262 | 0.1603 | -9 | c.*47 others(20): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 2364 | chr12 | TogoVar | ||||||
SETD2_chr3_47011436_47169113 | 47056012 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(48): Show |
a0002a0006a0008others(1): Show | a0002c0001a0002c0018a0006c0008others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0018t0001others(3): Show | a0002c0001t0001g0147a0002c0001t0001g0150a0002c0001t0001g0152others(48): Show | 51 | 308 | 0.1656 | -9 | c.696 others(26): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | ||||||
SETD2_chr3_47011436_47169113 | 47164012 | CGCGGCGG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(191): Show |
a0001a0002a0003others(13): Show | a0001c0005a0001c0006a0002c0001others(19): Show | a0001c0005t0001a0001c0005t0004a0001c0006t0001others(21): Show | a0001c0005t0001g0115a0001c0005t0001g0123a0001c0005t0001g0149others(191): Show | 194 | 308 | 0.6299 | -9 | c.-97 others(16): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 1/21 | 89 | chr3 | TogoVar | |||||
SETD3_chr14_99392748_99485859 | 99423588 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01928.hp1 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227a0001c0001t0001g0228a0001c0001t0001g0230others(3): Show | 6 | 290 | 0.0207 | -9 | c.676 others(26): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 6/12 | chr14 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9426212 | CCTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02615.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0029a0001c0003t0053 | a0001c0003t0010g0196a0001c0003t0010g0199a0001c0003t0029g0197others(1): Show | 4 | 240 | 0.0167 | -9 | c.-11 others(28): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 2/22 | chr3 | TogoVar | ||||||
SETD6_chr16_58510517_58528842 | 58522237 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01515.hp2 HG02040.hp2 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0033a0001c0001t0037others(3): Show | a0001c0001t0025g0002a0001c0001t0025g0006a0001c0001t0033g0007others(5): Show | 10 | 426 | 0.0235 | -9 | c.*32 others(20): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 8/8 | 3230 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SETDB2_chr13_49439274_49500003 | 49442787 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02132.hp2 HG02572.hp1 others(3): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0004a0003c0004t0005 | a0001c0002t0004g0363a0003c0004t0005g0201a0003c0004t0005g0205others(3): Show | 6 | 406 | 0.0148 | -9 | c.-24 others(20): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 1486 | chr13 | TogoVar | ||||||
SETDB2_chr13_49439274_49500003 | 49483609 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01074.hp1 others(64): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0029others(59): Show | 67 | 406 | 0.1650 | -9 | c.148 others(24): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SET_chr9_128684222_128701396 | 128698177 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp1 HG02258.hp2 HG02647.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0024others(2): Show | 9 | 396 | 0.0227 | -9 | c.*35 others(20): Show |
SET | ENSG00000119335.18 | transcript | ENST00000322030.13 | protein_coding | 1782 | chr9 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26284604 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02055.hp2 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002others(1): Show | a0001c0003t0007a0001c0006t0001a0002c0002t0003others(2): Show | a0001c0003t0007g0186a0001c0006t0001g0211a0002c0002t0003g0041others(2): Show | 5 | 240 | 0.0208 | -9 | c.95- others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SEZ6L_chr22_26164462_26388596 | 26313929 | TAATTTGG others(2): Show |
T | intron_variant | MODIFIER | HG02083.hp2 NA18950.hp2 NA18973.hp1 others(4): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0003a0002c0005t0005others(2): Show | a0002c0002t0001g0090a0002c0005t0003g0058a0002c0005t0003g0138others(4): Show | 7 | 240 | 0.0292 | -9 | c.201 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SEZ6L_chr22_26164462_26388596 | 26327345 | ACACACAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(53): Show | a0001c0001t0001g0013a0001c0001t0001g0155a0001c0001t0001g0156others(80): Show | 83 | 240 | 0.3458 | -9 | c.201 others(30): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SEZ6L_chr22_26164462_26388596 | 26356642 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01071.hp1 HG01167.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0129a0001c0001t0002g0034a0001c0001t0002g0056others(19): Show | 22 | 240 | 0.0917 | -9 | c.259 others(28): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SF3B1_chr2_197384784_197440028 | 197418234 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG02129.hp2 HG02523.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0277a0001c0002t0003g0001a0001c0002t0003g0076others(5): Show | 12 | 344 | 0.0349 | -9 | c.495 others(24): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31503906 | ATCATTAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0020a0001c0035others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0212others(87): Show | 90 | 322 | 0.2795 | -9 | c.-30 others(26): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SFI1_chr22_31491536_31623588 | 31568185 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03927.hp2 NA19011.hp2 others(2): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0005a0004c0004t0001 | a0002c0002t0001g0027a0002c0002t0001g0059a0002c0002t0001g0066others(2): Show | 5 | 322 | 0.0155 | -9 | c.766 others(26): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SFMBT1_chr3_52898572_53051073 | 53013615 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00738.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0198a0001c0001t0001g0320a0001c0001t0004g0290others(20): Show | 23 | 328 | 0.0701 | -9 | c.-13 others(30): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 53040968 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02738.hp2 HG03139.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0289others(5): Show | 8 | 328 | 0.0244 | -9 | c.-13 others(28): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 53041698 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00738.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0302a0001c0001t0001g0303a0001c0001t0004g0291others(23): Show | 26 | 328 | 0.0793 | -9 | c.-13 others(28): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
SFN_chr1_26858149_26869456 | 26868196 | TTACCAGG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01256.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0004 | a0001c0001t0002g0000a0001c0001t0004g0000a0001c0002t0004g0000 | 11 | 332 | 0.0331 | -9 | c.*42 others(20): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3741 | chr1 | TogoVar | ||||||
SFRP1_chr8_41256962_41314473 | 41288530 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0152a0001c0001t0001g0158a0001c0001t0001g0194others(50): Show | 54 | 384 | 0.1406 | -9 | c.622 others(28): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
SFTA2_chr6_30926353_30937170 | 30928031 | GTTTTTTT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0002t0001g0001 | 37 | 435 | 0.0851 | -9 | c.*34 others(20): Show |
SFTA2 | ENSG00000196260.5 | transcript | ENST00000359086.4 | protein_coding | 3321 | chr6 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175505537 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp2 NA18969.hp2 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0064 | a0001c0002t0002g0007a0001c0002t0064g0148 | 3 | 372 | 0.0081 | -9 | c.165 others(26): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SFXN4_chr10_119135767_119170714 | 119136245 | GGAGTGCA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(111): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0001a0001c0011t0001 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0016others(93): Show | 114 | 432 | 0.2639 | -9 | c.*49 others(20): Show |
SFXN4 | ENSG00000183605.17 | transcript | ENST00000355697.7 | protein_coding | 4521 | chr10 | TogoVar | ||||||
SFXN4_chr10_119135767_119170714 | 119150983 | AATCTCAA others(2): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03225.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027a0001c0002t0002g0028a0001c0002t0002g0029others(1): Show | 4 | 432 | 0.0093 | -9 | c.733 others(26): Show |
SFXN4 | ENSG00000183605.17 | transcript | ENST00000355697.7 | protein_coding | 11/13 | chr10 | TogoVar | ||||||
SFXN5_chr2_72937036_73076712 | 72984506 | GGGCCTGG others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00733.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0079a0001c0001t0002g0171a0001c0001t0003g0177others(4): Show | 7 | 250 | 0.0280 | -9 | c.625 others(26): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156351603 | GTCATCAT others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02717.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0116a0001c0001t0001g0117others(9): Show | 12 | 150 | 0.0800 | -9 | c.192 others(26): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCD_chr5_156322164_156772788 | 156487788 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02145.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0025a0001c0001t0001g0058others(17): Show | 20 | 150 | 0.1333 | -9 | c.193 others(28): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCD_chr5_156322164_156772788 | 156617852 | GCTTTTCC others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(7): Show | a0001c0001t0001g0147a0001c0001t0012g0059a0001c0001t0012g0060others(11): Show | 14 | 150 | 0.0933 | -9 | c.502 others(28): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 6/8 | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156622435 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01081.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0015a0001c0001t0001g0052a0001c0001t0001g0122others(29): Show | 32 | 150 | 0.2133 | -9 | c.503 others(28): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCG_chr13_23175979_23330162 | 23188480 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01168.hp1 HG01169.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0002t0001g0062others(9): Show | 13 | 354 | 0.0367 | -9 | c.-1+ others(24): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCG_chr13_23175979_23330162 | 23204580 | CTCTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(307): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(306): Show | 310 | 354 | 0.8757 | -9 | c.195 others(24): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCG_chr13_23175979_23330162 | 23247954 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00639.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0014a0001c0001t0001g0047a0001c0001t0001g0082others(75): Show | 78 | 354 | 0.2203 | -9 | c.298 others(26): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCG_chr13_23175979_23330162 | 23248034 | GAAGGCCA others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0282a0001c0001t0002g0008a0001c0001t0002g0028others(81): Show | 84 | 354 | 0.2373 | -9 | c.298 others(26): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23281341 | GTAATAAT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01109.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(9): Show | a0001c0001t0001g0192a0001c0001t0003g0127a0001c0001t0021g0351others(15): Show | 18 | 354 | 0.0509 | -9 | c.505 others(26): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCG_chr13_23175979_23330162 | 23299437 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02965.hp1 HG03453.hp1 |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0003a0001c0003t0006a0001c0004t0003 | a0001c0002t0003g0067a0001c0003t0006g0181a0001c0004t0003g0101 | 3 | 354 | 0.0085 | -9 | c.578 others(26): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14102095 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021a0001c0001t0064 | a0001c0001t0020g0025a0001c0001t0021g0015a0001c0001t0064g0069 | 3 | 102 | 0.0294 | -9 | c.744 others(24): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 7/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14117407 | TCTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01109.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0025others(20): Show | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0080others(22): Show | 25 | 102 | 0.2451 | -9 | c.548 others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 5/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14222792 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01109.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0002g0095a0001c0001t0003g0020a0001c0001t0003g0021others(18): Show | 21 | 102 | 0.2059 | -9 | c.424 others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14240327 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01081.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0034others(9): Show | a0001c0001t0001g0075a0001c0001t0001g0089a0001c0001t0002g0079others(11): Show | 14 | 102 | 0.1373 | -9 | c.337 others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 3/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14432914 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG02451.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0045a0001c0001t0048others(1): Show | a0001c0001t0019g0028a0001c0001t0045g0008a0001c0001t0048g0051others(1): Show | 4 | 102 | 0.0392 | -9 | c.235 others(30): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14437392 | TCTTCAAA others(2): Show |
T | intron_variant | MODIFIER | HG02630.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0053 | a0001c0001t0033g0003a0001c0001t0053g0056 | 2 | 102 | 0.0196 | -9 | c.235 others(30): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14525160 | ATAGATAG others(2): Show |
A | intron_variant | MODIFIER | HG01993.hp2 HG02895.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023a0001c0001t0074others(1): Show | a0001c0001t0005g0072a0001c0001t0023g0029a0001c0001t0074g0098others(1): Show | 4 | 102 | 0.0392 | -9 | c.234 others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14551551 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0025others(3): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0006g0083others(4): Show | 7 | 102 | 0.0686 | -9 | c.234 others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14846701 | TCCAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0076a0001c0001t0001g0080a0001c0001t0001g0089others(20): Show | 23 | 102 | 0.2255 | -9 | c.40- others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14847126 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0026others(3): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0021g0015others(4): Show | 7 | 102 | 0.0686 | -9 | c.40- others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15065415 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0027 | a0001c0001t0014g0024a0001c0001t0027g0010 | 2 | 102 | 0.0196 | -9 | c.39+ others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15137651 | AAGCCTTG others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01109.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0013a0001c0001t0017others(16): Show | a0001c0001t0011g0042a0001c0001t0013g0026a0001c0001t0017g0011others(16): Show | 19 | 102 | 0.1863 | -9 | c.39+ others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15159735 | CCCCCACC others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02132.hp1 HG02135.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0014a0001c0001t0018a0001c0001t0020others(7): Show | a0001c0001t0014g0024a0001c0001t0018g0037a0001c0001t0020g0025others(7): Show | 10 | 102 | 0.0980 | -9 | c.39+ others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66530952 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(57): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(21): Show | a0001c0001t0001g0263a0001c0001t0001g0270a0001c0001t0001g0271others(57): Show | 60 | 302 | 0.1987 | -9 | c.-34 others(20): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 3200 | chr1 | TogoVar |