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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERINC5_chr5_80133727_80261048 | 80258215 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01346.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0018a0001c0002t0003others(1): Show | a0001c0001t0004g0195 a0001c0001t0018g0002 a0001c0001t0018g0003 others(3): Show |
6 | 47 | 0.1277 | -7 | c.-23 others(18): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 2168 | chr5 | TogoVar | |||||||
SERPINB4_chr18_63632259_63649256 | 63636537 | TCTTCTAA | T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02258.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 8 | 422 | 0.0190 | -7 | c.*11 others(18): Show |
SERPINB4 | ENSG00000206073.11 | transcript | ENST00000341074.10 | protein_coding | 721 | chr18 | TogoVar | |||||||
SERPINB9_chr6_2882270_2908309 | 2892105 | TAAAAAAA | T | intron_variant | MODIFIER | HG01167.hp1 HG01934.hp2 HG01993.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0001g0126 a0001c0001t0001g0261 a0001c0001t0005g0182 others(6): Show |
9 | 126 | 0.0714 | -7 | c.568 others(22): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101143530 | AAAGAAAG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG01168.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0002a0001c0001t0003a0002c0003t0003others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 others(14): Show |
17 | 433 | 0.0393 | -7 | c.*60 others(18): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4284 | chr7 | TogoVar | |||||||
SERPINE2_chr2_223970045_224044286 | 223992481 | CTGTATGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0034 others(65): Show |
71 | 372 | 0.1909 | -7 | c.488 others(22): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
SERPINI2_chr3_167436933_167479042 | 167470550 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(87): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0005t0001 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0007 others(57): Show |
90 | 177 | 0.5085 | -7 | c.247 others(24): Show |
SERPINI2 | ENSG00000114204.16 | transcript | ENST00000264677.9 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SERTAD3_chr19_40435844_40449335 | 40438485 | AGGCCCTG | A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0005 a0001c0001t0006g0019 |
20 | 376 | 0.0532 | -7 | c.*29 others(18): Show |
SERTAD3 | ENSG00000167565.13 | transcript | ENST00000322354.4 | protein_coding | 2358 | chr19 | TogoVar | |||||||
SESN1_chr6_108979309_109099846 | 109044311 | CAAAAAAA | C | intron_variant | MODIFIER | HG02027.hp2 HG02572.hp2 HG03471.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 others(4): Show |
7 | 47 | 0.1489 | -7 | c.280 others(26): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
SESN2_chr1_28254518_28287491 | 28276129 | AGAGCAAG | A | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0011 a0001c0001t0003g0043 a0001c0001t0003g0109 others(21): Show |
29 | 338 | 0.0858 | -7 | c.121 others(26): Show |
SESN2 | ENSG00000130766.5 | transcript | ENST00000253063.4 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179149059 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01361.hp1 HG02055.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0005 | a0001c0001t0006a0001c0001t0008a0001c0001t0012others(7): Show | a0001c0001t0006g0010 a0001c0001t0006g0012 a0001c0001t0006g0013 others(19): Show |
22 | 48 | 0.4583 | -7 | c.581 others(22): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 7/17 | chr2 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44778928 | TCGAGCTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 others(90): Show |
93 | 138 | 0.6739 | -7 | c.486 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44989901 | AAAAAAAT | A | intron_variant | MODIFIER | HG01192.hp1 HG02080.hp1 HG02083.hp2 others(5): Show |
a0001a0009 | a0001c0001a0001c0016a0009c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0077 others(5): Show |
8 | 138 | 0.0580 | -7 | c.400 others(28): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SETD1A_chr16_30952754_30989664 | 30960708 | GTGTACAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0061 others(14): Show |
23 | 270 | 0.0852 | -7 | c.247 others(22): Show |
SETD1A | ENSG00000099381.20 | transcript | ENST00000262519.14 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SETD2_chr3_47011436_47169113 | 47044344 | CAAAAAAA | C | intron_variant | MODIFIER | HG03453.hp2 HG03654.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0004 | a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0028 others(4): Show |
7 | 27 | 0.2593 | -7 | c.709 others(26): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 16/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47056012 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG01891.hp2 others(35): Show |
a0001a0002a0004others(4): Show | a0001c0005a0002c0001a0004c0004others(5): Show | a0001c0005t0001a0001c0005t0005a0002c0001t0001others(7): Show | a0001c0005t0001g0128 a0001c0005t0001g0273 a0001c0005t0001g0306 others(35): Show |
38 | 69 | 0.5507 | -7 | c.696 others(24): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47106493 | TAAAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(88): Show |
a0002a0006a0008others(4): Show | a0002c0001a0002c0016a0002c0018others(6): Show | a0002c0001t0001a0002c0016t0001a0002c0018t0001others(6): Show | a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 others(88): Show |
91 | 129 | 0.7054 | -7 | c.471 others(24): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 5/20 | chr3 | TogoVar | |||||||
SETD6_chr16_58510517_58528842 | 58522237 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00738.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0011a0001c0001t0013a0001c0001t0017others(11): Show | a0001c0001t0011g0008 a0001c0001t0011g0009 a0001c0001t0013g0002 others(17): Show |
36 | 56 | 0.6429 | -7 | c.*32 others(18): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 8/8 | 3232 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SETDB2_chr13_49439274_49500003 | 49471927 | TATATATA | T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(6): Show |
a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0024 a0004c0005t0006g0065 a0004c0005t0006g0066 others(6): Show |
9 | 404 | 0.0223 | -7 | c.305 others(24): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 5/13 | chr13 | TogoVar | |||||||
SETDB2_chr13_49439274_49500003 | 49483609 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01069.hp2 others(56): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0024others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 others(54): Show |
59 | 73 | 0.8082 | -7 | c.148 others(22): Show |
SETDB2 | ENSG00000136169.17 | transcript | ENST00000611815.2 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SETX_chr9_132256356_132359986 | 132260017 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02717.hp2 HG03516.hp1 others(4): Show |
a0006a0020a0025others(1): Show | a0006c0007a0006c0013a0020c0018others(2): Show | a0006c0007t0005a0006c0013t0009a0020c0018t0012others(2): Show | a0006c0007t0005g0183 a0006c0013t0009g0062 a0006c0013t0009g0063 others(4): Show |
7 | 137 | 0.0511 | -7 | c.*42 others(18): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 1338 | chr9 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132277789 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01074.hp1 others(31): Show |
a0004a0006a0027 | a0004c0005a0004c0009a0004c0020others(2): Show | a0004c0005t0004a0004c0009t0004a0004c0009t0010others(3): Show | a0004c0005t0004g0075 a0004c0005t0004g0076 a0004c0005t0004g0077 others(31): Show |
34 | 226 | 0.1504 | -7 | c.684 others(24): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 21/25 | chr9 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132278437 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01167.hp1 others(10): Show |
a0004a0006a0012 | a0004c0005a0004c0009a0006c0012others(1): Show | a0004c0005t0004a0004c0009t0004a0004c0009t0010others(2): Show | a0004c0005t0004g0110 a0004c0005t0004g0111 a0004c0005t0004g0113 others(10): Show |
13 | 26 | 0.5000 | -7 | c.665 others(24): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 20/25 | chr9 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132325356 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(56): Show |
a0002a0006a0012others(5): Show | a0002c0002a0006c0013a0012c0027others(6): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0014others(10): Show | a0002c0002t0003g0006 a0002c0002t0003g0007 a0002c0002t0003g0008 others(56): Show |
59 | 360 | 0.1639 | -7 | c.527 others(24): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 10/25 | chr9 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29874550 | GTTTTTTT | G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(5): Show | a0001c0001t0006g0008 a0001c0001t0006g0053 a0001c0001t0009g0027 others(13): Show |
20 | 68 | 0.2941 | -7 | c.210 others(24): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 12/17 | chr16 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29881620 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01070.hp1 others(18): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0023 others(14): Show |
21 | 221 | 0.0950 | -7 | c.137 others(26): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 8/17 | chr16 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26379320 | TCCTAGCA | T | intron_variant | MODIFIER | HG02257.hp2 HG02886.hp2 HG03041.hp1 others(1): Show |
a0001a0003a0005 | a0001c0006a0003c0004a0005c0011 | a0001c0006t0012a0003c0004t0012a0003c0004t0031others(1): Show | a0001c0006t0012g0091 a0003c0004t0012g0018 a0003c0004t0031g0023 others(1): Show |
4 | 238 | 0.0168 | -7 | c.304 others(24): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SF3A3_chr1_37951975_37995022 | 37962285 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp2 others(142): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 others(135): Show |
145 | 174 | 0.8333 | -7 | c.137 others(26): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197418234 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(2): Show | a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0262 others(15): Show |
20 | 31 | 0.6452 | -7 | c.495 others(22): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | |||||||
SF3B3_chr16_70518816_70582668 | 70542216 | TTTATGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(152): Show |
a0001a0002 | a0001c0002a0001c0011a0002c0005 | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(28): Show | a0001c0002t0003g0002 a0001c0002t0003g0005 a0001c0002t0003g0025 others(138): Show |
155 | 340 | 0.4559 | -7 | c.123 others(24): Show |
SF3B3 | ENSG00000189091.13 | transcript | ENST00000302516.10 | protein_coding | 9/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SF3B6_chr2_24062586_24081326 | 24075352 | TCTTTCTG | T | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(9): Show |
38 | 345 | 0.1101 | -7 | c.30+ others(20): Show |
SF3B6 | ENSG00000115128.7 | transcript | ENST00000233468.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31494143 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01993.hp1 HG02717.hp2 others(3): Show |
a0002a0003a0006 | a0002c0025a0003c0003a0006c0008 | a0002c0025t0001a0003c0003t0001a0006c0008t0001 | a0002c0025t0001g0321 a0003c0003t0001g0023 a0006c0008t0001g0317 others(3): Show |
6 | 320 | 0.0188 | -7 | c.-25 others(18): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 2392 | chr22 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31553838 | GTTTTTTT | G | intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG02071.hp2 others(8): Show |
a0002a0004a0006others(1): Show | a0002c0002a0002c0006a0004c0004others(2): Show | a0002c0002t0001a0002c0006t0001a0004c0004t0001others(2): Show | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0083 others(8): Show |
11 | 57 | 0.1930 | -7 | c.545 others(24): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 6/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31568187 | GTGTGTGT | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00673.hp2 others(36): Show |
a0002a0012a0015others(1): Show | a0002c0002a0012c0037a0015c0022others(1): Show | a0002c0002t0001a0012c0037t0001a0015c0022t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(36): Show |
39 | 320 | 0.1219 | -7 | c.766 others(24): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31571125 | GGTCTAGA | G | intron_variant | MODIFIER | HG00738.hp2 HG02683.hp2 HG03688.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0317 |
3 | 320 | 0.0094 | -7 | c.766 others(24): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582236 | ATTTTTTT | A | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp1 HG01993.hp1 others(4): Show |
a0006 | a0006c0008a0006c0013 | a0006c0008t0001a0006c0013t0001 | a0006c0008t0001g0016 a0006c0008t0001g0316 a0006c0008t0001g0317 others(4): Show |
7 | 83 | 0.0843 | -7 | c.124 others(26): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52920515 | TAACCCAG | T | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02630.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(11): Show |
14 | 326 | 0.0429 | -7 | c.137 others(22): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 12/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52991048 | TACCTAGC | T | intron_variant | MODIFIER | HG00673.hp2 HG01943.hp2 HG01993.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0154 a0001c0001t0002g0272 a0001c0001t0002g0273 others(15): Show |
18 | 326 | 0.0552 | -7 | c.-13 others(28): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53030683 | CAAAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02258.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0007t0002others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0026 others(13): Show |
16 | 103 | 0.1553 | -7 | c.-13 others(28): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53040968 | ATTTTTTT | A | intron_variant | MODIFIER | HG01168.hp1 HG01516.hp1 HG01517.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0132 a0001c0001t0003g0058 a0001c0001t0003g0094 others(13): Show |
16 | 66 | 0.2424 | -7 | c.-13 others(26): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53041698 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01943.hp2 HG01993.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0172 a0001c0001t0002g0154 a0001c0001t0002g0272 others(15): Show |
18 | 64 | 0.2813 | -7 | c.-13 others(26): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7155482 | CATTTTTT | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0008g0102 |
3 | 129 | 0.0233 | -7 | c.*82 others(18): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 3141 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7377168 | CAAAAAAA | C | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0072 a0001c0001t0005g0092 a0001c0001t0009g0117 others(2): Show |
5 | 8 | 0.6250 | -7 | c.100 others(24): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7393028 | TATATATA | T | intron_variant | MODIFIER | HG03017.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0113 a0001c0002t0002g0099 |
2 | 142 | 0.0141 | -7 | c.-51 others(26): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
SFPQ_chr1_35177936_35198145 | 35194444 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp2 others(40): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0018 others(6): Show |
43 | 155 | 0.2774 | -7 | c.-14 others(18): Show |
SFPQ | ENSG00000116560.12 | transcript | ENST00000357214.6 | protein_coding | 1300 | chr1 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41290876 | TCTTCCTC | T | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01169.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0047 a0001c0001t0002g0130 a0001c0001t0002g0223 others(5): Show |
8 | 382 | 0.0209 | -7 | c.622 others(26): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131740966 | CTTTTTTT | C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01517.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0175 a0001c0001t0001g0234 others(5): Show |
8 | 112 | 0.0714 | -7 | c.108 others(28): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175524120 | AAAAAAAT | A | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01256.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0049 | a0001c0001t0003g0011 a0001c0001t0003g0255 a0001c0001t0003g0263 others(3): Show |
7 | 354 | 0.0198 | -7 | c.872 others(24): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN5_chr2_72937036_73076712 | 73067073 | TGATTTTA | T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0009others(5): Show | a0001c0002t0002g0022 a0001c0002t0003g0020 a0001c0002t0003g0025 others(9): Show |
12 | 248 | 0.0484 | -7 | c.102 others(24): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156333783 | ATTTTTTT | A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0001t0012others(15): Show | a0001c0001t0006g0066 a0001c0001t0009g0067 a0001c0001t0012g0010 others(34): Show |
37 | 47 | 0.7872 | -7 | c.3+4 others(20): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156647644 | TAAATTGA | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(127): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(57): Show | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0023 others(127): Show |
130 | 148 | 0.8784 | -7 | c.575 others(22): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |