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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SFMBT1_chr3_52898572_53051073 | 53014477 | AAAACAAA others(12): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 328 | 0.0031 | -19 | c.-13 others(40): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 53040968 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 328 | 0.0031 | -19 | c.-13 others(38): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 53046904 | TGGGCGGT others(12): Show |
T | upstream_gene_variant | MODIFIER | NA18949.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125a0001c0001t0003g0127 | 2 | 328 | 0.0061 | -19 | c.-12 others(30): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 832 | chr3 | TogoVar | ||||||
SFMBT2_chr10_7153624_7416034 | 7393015 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG02602.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0016others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0061a0001c0001t0011g0120others(3): Show | 6 | 144 | 0.0417 | -19 | c.-51 others(38): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
SFN_chr1_26858149_26869456 | 26868247 | TTTCTCTC others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 332 | 0.0030 | -19 | c.*42 others(30): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3792 | chr1 | TogoVar | ||||||
SFRP1_chr8_41256962_41314473 | 41290886 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp2 NA19062.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0366a0002c0002t0001g0377 | 2 | 384 | 0.0052 | -19 | c.622 others(38): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524120 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | NA18968.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0028 | 2 | 372 | 0.0054 | -19 | c.872 others(36): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SFXN1_chr5_175473560_175534742 | 175524122 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01978.hp2 HG01981.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0102a0001c0001t0001g0107a0001c0001t0001g0112others(7): Show | 10 | 372 | 0.0269 | -19 | c.872 others(36): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SFXN1_chr5_175473560_175534742 | 175524124 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0001g0105a0001c0001t0001g0227a0001c0001t0001g0296others(4): Show | 7 | 372 | 0.0188 | -19 | c.872 others(36): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SFXN3_chr10_101026234_101046241 | 101044726 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 444 | 0.0023 | -19 | c.*51 others(30): Show |
SFXN3 | ENSG00000107819.15 | transcript | ENST00000393459.6 | protein_coding | 3486 | chr10 | TogoVar | ||||||
SFXN3_chr10_101026234_101046241 | 101044733 | TATATATA others(12): Show |
T | downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 444 | 0.0023 | -19 | c.*51 others(30): Show |
SFXN3 | ENSG00000107819.15 | transcript | ENST00000393459.6 | protein_coding | 3493 | chr10 | TogoVar | ||||||
SGCB_chr4_52015706_52043299 | 52034331 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0139a0001c0001t0003g0002a0001c0001t0003g0015others(15): Show | 36 | 368 | 0.0978 | -19 | c.34- others(32): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156444094 | CTCTCTCT others(12): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0139 | 1 | 150 | 0.0067 | -19 | c.193 others(38): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156584624 | CTGCTTCT others(12): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(102): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(56): Show | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0045others(102): Show | 105 | 150 | 0.7000 | -19 | c.295 others(36): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SGCE_chr7_94579980_94661133 | 94601443 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00735.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0189others(69): Show | 72 | 390 | 0.1846 | -19 | c.826 others(34): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 6/10 | chr7 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23299433 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129 | 1 | 354 | 0.0028 | -19 | c.578 others(36): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14244136 | TTCTTCCT others(12): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(99): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0080others(99): Show | 102 | 102 | 1.0000 | -19 | c.337 others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 3/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14702729 | AATGATAG others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0009 | 1 | 102 | 0.0098 | -19 | c.40- others(38): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15186262 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0078 | 1 | 102 | 0.0098 | -19 | c.39+ others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15209475 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(64): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(58): Show | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0089others(64): Show | 67 | 102 | 0.6569 | -19 | c.39+ others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66631666 | TTTCTCTC others(12): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 302 | 0.0033 | -19 | c.75- others(34): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66631680 | TTTCTCTC others(12): Show |
T | intron_variant | MODIFIER | HG00597.hp2 NA19030.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0003a0002c0006t0007 | a0002c0002t0003g0260a0002c0006t0007g0209 | 2 | 302 | 0.0066 | -19 | c.75- others(34): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66660126 | AAGAAAGA others(12): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0012a0001c0001t0028others(2): Show | a0001c0001t0001g0085a0001c0001t0001g0282a0001c0001t0012g0102others(4): Show | 7 | 302 | 0.0232 | -19 | c.460 others(34): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGK1_chr6_134164256_134323112 | 134241040 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(99): Show | 102 | 250 | 0.4080 | -19 | c.285 others(38): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134265503 | CACATATA others(12): Show |
C | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 250 | 0.0040 | -19 | c.70- others(34): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66723117 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03195.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0014a0001c0002t0004g0015a0001c0002t0004g0016others(1): Show | 4 | 142 | 0.0282 | -19 | c.-12 others(40): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS1_chr10_50300600_50628956 | 50430514 | CATGCAAA others(12): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01884.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0002 | a0001c0001t0001g0189a0001c0001t0009g0133a0001c0002t0002g0018others(2): Show | 5 | 312 | 0.0160 | -19 | c.-23 others(38): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200524454 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 384 | 0.0026 | -19 | c.-18 others(30): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 1752 | chr2 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63718995 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 288 | 0.0035 | -19 | c.684 others(36): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63718998 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02886.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0002a0001c0002t0004g0051a0001c0002t0004g0053others(2): Show | 6 | 288 | 0.0208 | -19 | c.684 others(36): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63719000 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0057 | 1 | 288 | 0.0035 | -19 | c.684 others(36): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222467950 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0006a0001c0001t0017a0001c0003t0022others(1): Show | a0001c0001t0006g0073a0001c0001t0017g0188a0001c0003t0022g0190others(1): Show | 4 | 272 | 0.0147 | -19 | c.220 others(36): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGSM1_chr22_24801211_24932578 | 24865889 | TCTTGCAG others(12): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA19043.hp2 |
a0003a0009 | a0003c0031a0009c0032 | a0003c0031t0031a0009c0032t0022 | a0003c0031t0031g0290a0009c0032t0022g0309 | 2 | 338 | 0.0059 | -19 | c.927 others(36): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SGSM3_chr22_40365594_40415289 | 40388480 | TGAGGCTG others(12): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0065a0001c0001t0001g0232others(1): Show | 4 | 292 | 0.0137 | -19 | c.-11 others(40): Show |
SGSM3 | ENSG00000100359.21 | transcript | ENST00000248929.14 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SH2B2_chr7_102281868_102326711 | 102290329 | TCCGCTCC others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(197): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(189): Show | 200 | 406 | 0.4926 | -19 | c.-30 others(36): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SH2D1B_chr1_162390268_162417136 | 162403502 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 424 | 0.0024 | -19 | c.135 others(34): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572970 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0002a0005c0005t0003others(1): Show | a0005c0005t0001g0079a0005c0005t0002g0113a0005c0005t0003g0112others(1): Show | 4 | 322 | 0.0124 | -19 | c.495 others(36): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80572972 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01891.hp2 HG02647.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0003a0005c0005t0001 | a0001c0001t0001g0214a0001c0001t0003g0080a0005c0005t0001g0053others(5): Show | 8 | 322 | 0.0248 | -19 | c.495 others(36): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80572974 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00544.hp1 NA18954.hp1 NA18963.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0003g0217a0002c0002t0001g0063a0003c0003t0001g0076others(3): Show | 6 | 322 | 0.0186 | -19 | c.495 others(36): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80572976 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0105 | 1 | 322 | 0.0031 | -19 | c.495 others(36): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80587132 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG02818.hp1 HG03209.hp1 |
a0007a0014a0015 | a0007c0015a0014c0026a0015c0025 | a0007c0015t0001a0014c0026t0006a0015c0025t0009 | a0007c0015t0001g0306a0014c0026t0006g0203a0015c0025t0009g0202 | 3 | 322 | 0.0093 | -19 | c.496 others(36): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH3BP5L_chr1_248805446_248830915 | 248829784 | GTCTCCCT others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011 | a0001c0001t0002g0113a0001c0001t0006g0117a0001c0001t0011g0043 | 4 | 412 | 0.0097 | -19 | c.-44 others(30): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 3870 | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4381327 | GTCTCTCT others(12): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 358 | 0.0028 | -19 | c.46- others(36): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4400572 | GCCGGCCC others(12): Show |
G | upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 358 | 0.0028 | -19 | c.-22 others(28): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 26 | chr19 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83541312 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03098.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0128a0001c0001t0001g0288a0001c0001t0002g0135others(2): Show | 5 | 324 | 0.0154 | -19 | c.46- others(36): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SH3KBP1_chrX_19528977_19892600 | 19554224 | CATATTAA others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(4): Show | 7 | 204 | 0.0343 | -19 | c.138 others(38): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19567518 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062 | 3 | 204 | 0.0147 | -19 | c.138 others(38): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19760022 | TCCTCTCT others(12): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0192a0001c0001t0001g0196 | 3 | 204 | 0.0147 | -19 | c.163 others(38): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19852928 | AAGTGGAT others(12): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0002a0001c0006t0001 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0038others(6): Show | 9 | 204 | 0.0441 | -19 | c.5-1 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19887601 | GAAAAAAA others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 204 | 0.0049 | -19 | c.-31 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2 | chrX | TogoVar |