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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDHB_chr1_17013722_17059032 | 17017027 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0107 a0001c0001t0001g0124 others(6): Show |
10 | 368 | 0.0272 | 5 | c.*18 others(16): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 1694 | chr1 | TogoVar | |||||||
SDHB_chr1_17013722_17059032 | 17029093 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp2 others(65): Show |
a0001a0005a0006 | a0001c0001a0005c0009a0006c0005 | a0001c0001t0001a0005c0009t0001a0006c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(55): Show |
68 | 368 | 0.1848 | 5 | c.287 others(20): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
SDHB_chr1_17013722_17059032 | 17042954 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(43): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0010 | a0001c0001t0001a0002c0003t0001a0002c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(36): Show |
46 | 368 | 0.1250 | 5 | c.200 others(22): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SDHB_chr1_17013722_17059032 | 17049647 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(66): Show |
a0001a0005a0006 | a0001c0001a0005c0009a0006c0005 | a0001c0001t0001a0005c0009t0001a0006c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(53): Show |
69 | 368 | 0.1875 | 5 | c.72+ others(20): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161317023 | T | TTTTTC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(84): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 others(79): Show |
87 | 330 | 0.2636 | 5 | c.20+ others(20): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDHC_chr1_161309381_161368206 | 161320828 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00673.hp2 others(92): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0045 others(83): Show |
95 | 330 | 0.2879 | 5 | c.21- others(20): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDHC_chr1_161309381_161368206 | 161340349 | T | TTTTGC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(87): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 others(82): Show |
90 | 330 | 0.2727 | 5 | c.180 others(20): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDHC_chr1_161309381_161368206 | 161361842 | C | CAAAAA | intron_variant | MODIFIER | HG01928.hp2 HG02040.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0273 others(9): Show |
12 | 330 | 0.0364 | 5 | c.406 others(20): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3299468 | T | TTTTTC | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00738.hp2 others(74): Show |
a0001a0002a0004others(20): Show | a0001c0002a0001c0004a0001c0005others(64): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0040others(71): Show | a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0002t0040g0084 others(74): Show |
77 | 116 | 0.6638 | 5 | c.-21 others(16): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1783 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3343723 | G | GTTTAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00639.hp1 others(60): Show |
a0001a0002a0003others(21): Show | a0001c0002a0001c0004a0001c0007others(53): Show | a0001c0002t0002a0001c0002t0004a0001c0004t0005others(57): Show | a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0004t0005g0102 others(60): Show |
63 | 116 | 0.5431 | 5 | c.298 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3357328 | G | GTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00738.hp1 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0054a0002c0055others(1): Show | a0001c0002t0002a0002c0054t0067a0002c0055t0002others(2): Show | a0001c0002t0002g0095 a0002c0054t0067g0034 a0002c0055t0002g0101 others(2): Show |
5 | 116 | 0.0431 | 5 | c.298 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3389754 | T | TAAAAC | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp1 others(95): Show |
a0001a0002a0003others(28): Show | a0001c0002a0001c0004a0001c0005others(80): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0040others(91): Show | a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0002t0040g0084 others(95): Show |
98 | 116 | 0.8448 | 5 | c.298 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3403834 | T | TATATA | intron_variant | MODIFIER | HG01167.hp1 HG02886.hp1 HG03139.hp2 others(2): Show |
a0009a0011a0030 | a0009c0019a0009c0020a0011c0021others(2): Show | a0009c0019t0074a0009c0020t0070a0011c0021t0073others(2): Show | a0009c0019t0074g0009 a0009c0020t0070g0008 a0011c0021t0073g0006 others(2): Show |
5 | 116 | 0.0431 | 5 | c.298 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3418145 | G | GCAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02809.hp1 others(5): Show |
a0001a0007a0009others(4): Show | a0001c0008a0001c0061a0007c0006others(5): Show | a0001c0008t0007a0001c0061t0041a0007c0006t0012others(5): Show | a0001c0008t0007g0067 a0001c0061t0041g0080 a0007c0006t0012g0115 others(5): Show |
8 | 116 | 0.0690 | 5 | c.298 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3474091 | G | GTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01109.hp1 others(6): Show |
a0001a0007a0012others(1): Show | a0001c0002a0001c0007a0001c0014others(4): Show | a0001c0002t0040a0001c0007t0021a0001c0014t0018others(4): Show | a0001c0002t0040g0084 a0001c0007t0021g0110 a0001c0014t0018g0060 others(6): Show |
9 | 116 | 0.0776 | 5 | c.299 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3487754 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01167.hp2 others(9): Show |
a0001a0003a0004others(3): Show | a0001c0005a0001c0010a0001c0011others(7): Show | a0001c0005t0001a0001c0005t0051a0001c0010t0002others(9): Show | a0001c0005t0001g0023 a0001c0005t0051g0030 a0001c0010t0002g0085 others(9): Show |
12 | 116 | 0.1035 | 5 | c.299 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3644773 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00738.hp2 others(1): Show |
a0001a0004 | a0001c0007a0001c0008a0004c0001 | a0001c0007t0003a0001c0007t0021a0001c0008t0004others(1): Show | a0001c0007t0003g0033 a0001c0007t0021g0110 a0001c0008t0004g0096 others(1): Show |
4 | 116 | 0.0345 | 5 | c.713 others(22): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3705425 | G | GATTTT | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01175.hp1 others(7): Show |
a0001a0003a0004others(4): Show | a0001c0005a0001c0008a0001c0039others(6): Show | a0001c0005t0001a0001c0005t0051a0001c0008t0004others(7): Show | a0001c0005t0001g0023 a0001c0005t0051g0030 a0001c0008t0004g0096 others(7): Show |
10 | 116 | 0.0862 | 5 | c.713 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3754523 | A | AAAGTT | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02145.hp2 others(26): Show |
a0001a0002a0003others(10): Show | a0001c0011a0001c0017a0001c0026others(25): Show | a0001c0011t0039a0001c0017t0011a0001c0026t0024others(25): Show | a0001c0011t0039g0061 a0001c0017t0011g0051 a0001c0017t0011g0052 others(26): Show |
29 | 116 | 0.2500 | 5 | c.714 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3880436 | A | AGCCCG | intron_variant | MODIFIER | HG02809.hp2 HG03688.hp1 |
a0001a0032 | a0001c0011a0032c0087 | a0001c0011t0008a0032c0087t0046 | a0001c0011t0008g0028 a0032c0087t0046g0012 |
2 | 116 | 0.0172 | 5 | c.847 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3945899 | T | TAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01123.hp2 others(9): Show |
a0001a0002a0005others(3): Show | a0001c0004a0001c0007a0001c0011others(9): Show | a0001c0004t0005a0001c0007t0003a0001c0011t0039others(9): Show | a0001c0004t0005g0102 a0001c0007t0003g0033 a0001c0011t0039g0061 others(9): Show |
12 | 116 | 0.1035 | 5 | c.848 others(22): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3954384 | A | ACCCTC | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00735.hp1 others(31): Show |
a0001a0002a0004others(14): Show | a0001c0002a0001c0007a0001c0008others(27): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0040others(31): Show | a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0002t0040g0084 others(31): Show |
34 | 116 | 0.2931 | 5 | c.115 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 7/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3983495 | T | TTTAAA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(51): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0004a0001c0005others(46): Show | a0001c0002t0002a0001c0002t0004a0001c0004t0005others(50): Show | a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0004t0005g0102 others(51): Show |
54 | 116 | 0.4655 | 5 | c.199 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4005039 | C | CTTTTT | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG02922.hp1 others(2): Show |
a0001a0020a0024others(1): Show | a0001c0027a0001c0094a0020c0028others(2): Show | a0001c0027t0002a0001c0094t0006a0020c0028t0020others(2): Show | a0001c0027t0002g0086 a0001c0094t0006g0053 a0020c0028t0020g0087 others(2): Show |
5 | 116 | 0.0431 | 5 | c.213 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 14/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4005054 | T | TTTTTC | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp1 HG02922.hp2 others(2): Show |
a0001a0011a0026 | a0001c0017a0001c0050a0011c0021others(1): Show | a0001c0017t0011a0001c0050t0036a0011c0021t0073others(1): Show | a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0050t0036g0109 others(2): Show |
5 | 116 | 0.0431 | 5 | c.213 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 14/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4012549 | C | CTTTTT | intron_variant | MODIFIER | HG01978.hp1 HG02559.hp2 HG02886.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0041a0001c0061a0002c0012others(2): Show | a0001c0041t0001a0001c0061t0041a0002c0012t0016others(2): Show | a0001c0041t0001g0040 a0001c0061t0041g0080 a0002c0012t0016g0003 others(2): Show |
5 | 116 | 0.0431 | 5 | c.242 others(22): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4031550 | G | GAAGAT | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG01934.hp2 others(12): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0008a0001c0010others(11): Show | a0001c0002t0040a0001c0008t0007a0001c0010t0060others(11): Show | a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0010t0060g0017 others(12): Show |
15 | 116 | 0.1293 | 5 | c.260 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4041288 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG03139.hp1 others(1): Show |
a0001a0014 | a0001c0011a0001c0068a0001c0088others(1): Show | a0001c0011t0039a0001c0068t0068a0001c0088t0009others(1): Show | a0001c0011t0039g0061 a0001c0068t0068g0001 a0001c0088t0009g0054 others(1): Show |
4 | 116 | 0.0345 | 5 | c.260 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4084675 | C | CGTTAT | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01123.hp1 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0005a0001c0014others(4): Show | a0001c0002t0002a0001c0005t0051a0001c0014t0018others(4): Show | a0001c0002t0002g0095 a0001c0005t0051g0030 a0001c0014t0018g0060 others(5): Show |
8 | 116 | 0.0690 | 5 | c.332 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4149055 | A | AAAAAC | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02451.hp2 others(4): Show |
a0001a0009a0019 | a0001c0017a0001c0050a0001c0072others(3): Show | a0001c0017t0011a0001c0050t0036a0001c0072t0057others(3): Show | a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0050t0036g0109 others(4): Show |
7 | 116 | 0.0603 | 5 | c.442 others(22): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 29/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4232407 | C | CTTTTT | intron_variant | MODIFIER | HG01516.hp1 HG01516.hp2 HG02615.hp1 others(1): Show |
a0001a0004a0021 | a0001c0008a0001c0060a0004c0001others(1): Show | a0001c0008t0004a0001c0060t0027a0004c0001t0059others(1): Show | a0001c0008t0004g0096 a0001c0060t0027g0090 a0004c0001t0059g0024 others(1): Show |
4 | 116 | 0.0345 | 5 | c.582 others(22): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 40/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4262892 | T | TCCTCC | intron_variant | MODIFIER | HG03195.hp1 HG03453.hp2 |
a0005 | a0005c0058a0005c0059 | a0005c0058t0013a0005c0059t0012 | a0005c0058t0013g0045 a0005c0059t0012g0063 |
2 | 116 | 0.0172 | 5 | c.638 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73340734 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(33): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0096others(33): Show | a0001c0001t0002g0027 a0001c0002t0001g0047 a0001c0002t0096g0123 others(33): Show |
36 | 204 | 0.1765 | 5 | c.616 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 44/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73375311 | G | GGCTCA | intron_variant | MODIFIER | HG00639.hp1 HG02647.hp1 HG02965.hp1 others(1): Show |
a0007 | a0007c0019a0007c0049a0007c0083 | a0007c0019t0027a0007c0019t0075a0007c0049t0027others(1): Show | a0007c0019t0027g0004 a0007c0019t0075g0017 a0007c0049t0027g0172 others(1): Show |
4 | 204 | 0.0196 | 5 | c.498 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 36/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73392643 | T | TATTTA | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 HG01346.hp1 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0005a0001c0009a0001c0032others(10): Show | a0001c0005t0024a0001c0009t0043a0001c0032t0052others(14): Show | a0001c0005t0024g0191 a0001c0009t0043g0069 a0001c0032t0052g0002 others(14): Show |
17 | 204 | 0.0833 | 5 | c.389 others(22): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 27/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73408046 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(58): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(53): Show | a0001c0001t0001g0063 a0001c0001t0001g0128 a0001c0001t0001g0192 others(58): Show |
61 | 204 | 0.2990 | 5 | c.248 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73418010 | G | GTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG01981.hp1 others(5): Show |
a0001a0018 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0065a0001c0004t0082others(5): Show | a0001c0001t0001g0128 a0001c0002t0065g0177 a0001c0004t0082g0168 others(5): Show |
8 | 204 | 0.0392 | 5 | c.218 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 16/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73426208 | C | CTTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp2 HG03041.hp1 others(5): Show |
a0001a0005 | a0001c0003a0001c0025a0001c0032others(3): Show | a0001c0003t0090a0001c0025t0016a0001c0032t0052others(5): Show | a0001c0003t0090g0132 a0001c0025t0016g0055 a0001c0032t0052g0002 others(5): Show |
8 | 204 | 0.0392 | 5 | c.158 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 12/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73427642 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00642.hp1 others(29): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0007a0001c0089others(23): Show | a0001c0001t0009a0001c0007t0005a0001c0089t0055others(28): Show | a0001c0001t0009g0120 a0001c0007t0005g0134 a0001c0089t0055g0175 others(29): Show |
32 | 204 | 0.1569 | 5 | c.158 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 12/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73502675 | C | CTAACA | intron_variant | MODIFIER | HG02129.hp2 HG02735.hp1 NA18942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0082 | a0001c0001t0009a0001c0001t0015a0001c0003t0051others(1): Show | a0001c0001t0009g0120 a0001c0001t0015g0072 a0001c0003t0051g0046 others(1): Show |
4 | 204 | 0.0196 | 5 | c.224 others(22): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73559604 | C | CCCCCT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01169.hp1 others(23): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0003a0001c0006others(22): Show | a0001c0002t0010a0001c0003t0011a0001c0006t0003others(23): Show | a0001c0002t0010g0181 a0001c0003t0011g0067 a0001c0006t0003g0026 others(23): Show |
26 | 204 | 0.1275 | 5 | c.65- others(22): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73586603 | G | GGGGGC | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01106.hp2 others(13): Show |
a0001a0004a0006others(2): Show | a0001c0003a0001c0005a0001c0007others(9): Show | a0001c0003t0020a0001c0003t0090a0001c0005t0048others(12): Show | a0001c0003t0020g0155 a0001c0003t0090g0132 a0001c0005t0048g0145 others(13): Show |
16 | 204 | 0.0784 | 5 | c.64+ others(22): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84666936 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(171): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(168): Show |
174 | 320 | 0.5438 | 5 | c.*30 others(16): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 2607 | chr15 | TogoVar | |||||||
SEC14L1_chr17_77135969_77222101 | 77169007 | C | CTTTTT | intron_variant | MODIFIER | NA18946.hp1 NA18970.hp1 NA18990.hp1 others(5): Show |
a0001a0013 | a0001c0001a0013c0010 | a0001c0001t0008a0001c0001t0050a0013c0010t0039 | a0001c0001t0008g0402 a0001c0001t0008g0407 a0001c0001t0008g0408 others(5): Show |
8 | 430 | 0.0186 | 5 | c.64- others(22): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77180046 | T | TTGTTA | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp1 HG01257.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0045others(8): Show | a0001c0001t0003g0110 a0001c0001t0003g0136 a0001c0001t0003g0149 others(19): Show |
22 | 430 | 0.0512 | 5 | c.64- others(22): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77189626 | G | GGTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG01168.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0069others(2): Show | a0001c0001t0006g0001 a0001c0001t0006g0010 a0001c0001t0006g0026 others(33): Show |
39 | 430 | 0.0907 | 5 | c.64- others(20): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77218243 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00733.hp2 others(54): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0031 a0001c0001t0001g0232 a0001c0001t0001g0254 others(54): Show |
57 | 430 | 0.1326 | 5 | c.*42 others(16): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 1143 | chr17 | TogoVar | |||||||
SEC14L4_chr22_30483902_30510695 | 30500754 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01081.hp1 others(17): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0002a0005c0007t0002 | a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0239 others(13): Show |
20 | 424 | 0.0472 | 5 | c.130 others(22): Show |
SEC14L4 | ENSG00000133488.15 | transcript | ENST00000255858.12 | protein_coding | 2/11 | chr22 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 5005863 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01928.hp1 others(12): Show |
a0001a0014 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0003g0294 others(12): Show |
15 | 376 | 0.0399 | 5 | c.130 others(20): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 5013550 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01081.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0022 | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0078 a0001c0001t0001g0317 others(17): Show |
20 | 376 | 0.0532 | 5 | c.198 others(24): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |