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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDK1_chr7_3296252_4274000 | 3976608 | TGAGGCTG others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01109.hp1 others(33): Show |
a0001a0002a0004others(16): Show | a0001c0002a0001c0007a0001c0017others(30): Show | a0001c0002t0004a0001c0002t0040a0001c0007t0003others(31): Show | a0001c0002t0004g0104 a0001c0002t0040g0084 a0001c0007t0003g0033 others(33): Show |
36 | 116 | 0.3103 | -8 | c.199 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976667 | TGAGGCTG others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01109.hp1 others(24): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0011a0001c0017others(22): Show | a0001c0002t0004a0001c0002t0040a0001c0011t0008others(23): Show | a0001c0002t0004g0104 a0001c0002t0040g0084 a0001c0011t0008g0028 others(24): Show |
27 | 116 | 0.2328 | -8 | c.199 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977032 | TGAGGCTG others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01243.hp1 others(13): Show |
a0001a0002a0005others(6): Show | a0001c0002a0001c0014a0001c0017others(12): Show | a0001c0002t0004a0001c0014t0018a0001c0017t0011others(12): Show | a0001c0002t0004g0104 a0001c0014t0018g0060 a0001c0014t0018g0062 others(13): Show |
16 | 116 | 0.1379 | -8 | c.199 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977193 | TGAGGCTG others(1): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02258.hp2 HG02451.hp1 others(4): Show |
a0001a0003a0018others(1): Show | a0001c0017a0001c0049a0001c0088others(3): Show | a0001c0017t0011a0001c0049t0036a0001c0088t0009others(3): Show | a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0049t0036g0109 others(4): Show |
7 | 116 | 0.0603 | -8 | c.199 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977252 | TGAGGCTG others(1): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02145.hp1 others(7): Show |
a0001a0003a0015others(3): Show | a0001c0002a0001c0017a0001c0049others(6): Show | a0001c0002t0040a0001c0017t0011a0001c0049t0036others(6): Show | a0001c0002t0040g0084 a0001c0017t0011g0051 a0001c0017t0011g0052 others(7): Show |
10 | 116 | 0.0862 | -8 | c.199 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4005393 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02723.hp1 NA19030.hp1 others(1): Show |
a0001a0022a0034 | a0001c0038a0001c0093a0022c0094others(1): Show | a0001c0038t0013a0001c0093t0006a0022c0094t0025others(1): Show | a0001c0038t0013g0038 a0001c0093t0006g0053 a0022c0094t0025g0049 others(1): Show |
4 | 116 | 0.0345 | -8 | c.213 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 14/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4025016 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | NA20129.hp1 NA20300.hp2 |
a0001 | a0001c0037a0001c0072 | a0001c0037t0002a0001c0072t0065 | a0001c0037t0002g0077 a0001c0072t0065g0027 |
2 | 116 | 0.0172 | -8 | c.260 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4045644 | GAAAGCAC others(1): Show |
G | intron_variant | MODIFIER | HG02630.hp2 NA19043.hp2 |
a0002a0034 | a0002c0013a0034c0052 | a0002c0013t0015a0034c0052t0032 | a0002c0013t0015g0025 a0034c0052t0032g0107 |
2 | 116 | 0.0172 | -8 | c.260 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4084724 | ATGTTATG others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG03491.hp2 |
a0001a0002 | a0001c0007a0002c0030a0002c0053 | a0001c0007t0021a0002c0030t0034a0002c0053t0067 | a0001c0007t0021g0110 a0002c0030t0034g0083 a0002c0053t0067g0034 |
3 | 116 | 0.0259 | -8 | c.332 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4097958 | TTGTTCTG others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01516.hp2 HG01934.hp1 |
a0001a0003 | a0001c0032a0001c0062a0003c0001 | a0001c0032t0058a0001c0062t0053a0003c0001t0059 | a0001c0032t0058g0043 a0001c0062t0053g0042 a0003c0001t0059g0024 |
3 | 116 | 0.0259 | -8 | c.332 others(29): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4102954 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02922.hp1 others(10): Show |
a0001a0009a0010others(6): Show | a0001c0026a0001c0027a0001c0046others(10): Show | a0001c0026t0002a0001c0027t0020a0001c0046t0022others(10): Show | a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0046t0022g0091 others(10): Show |
13 | 116 | 0.1121 | -8 | c.332 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4162391 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01978.hp2 NA19043.hp1 |
a0001a0002a0010 | a0001c0004a0002c0042a0010c0079 | a0001c0004t0001a0002c0042t0002a0010c0079t0054 | a0001c0004t0001g0039 a0002c0042t0002g0105 a0010c0079t0054g0073 |
3 | 116 | 0.0259 | -8 | c.480 others(25): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 32/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4230039 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp1 others(23): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0007others(23): Show | a0001c0002t0002a0001c0004t0001a0001c0007t0021others(23): Show | a0001c0002t0002g0095 a0001c0004t0001g0039 a0001c0007t0021g0110 others(23): Show |
26 | 116 | 0.2241 | -8 | c.582 others(27): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 40/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73330545 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01074.hp1 others(24): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(20): Show | a0001c0001t0001a0001c0001t0015a0001c0004t0010others(22): Show | a0001c0001t0001g0128 a0001c0001t0015g0049 a0001c0001t0015g0072 others(24): Show |
27 | 204 | 0.1324 | -8 | c.*80 others(19): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3838 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73375230 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01175.hp2 others(21): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0065others(20): Show | a0001c0001t0001g0128 a0001c0001t0015g0072 a0001c0002t0065g0177 others(21): Show |
24 | 204 | 0.1177 | -8 | c.498 others(27): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 36/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73388772 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 |
a0001 | a0001c0005 | a0001c0005t0048a0001c0005t0050 | a0001c0005t0048g0145 a0001c0005t0050g0032 |
2 | 204 | 0.0098 | -8 | c.419 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 29/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73388784 | TTCCTTCC others(1): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG02698.hp2 HG03704.hp2 others(3): Show |
a0001a0002a0024 | a0001c0005a0001c0010a0002c0028others(2): Show | a0001c0005t0078a0001c0010t0004a0001c0010t0006others(3): Show | a0001c0005t0078g0100 a0001c0010t0004g0164 a0001c0010t0006g0053 others(3): Show |
6 | 204 | 0.0294 | -8 | c.419 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 29/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73388889 | TCTCCCTC others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02074.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0014a0001c0024others(4): Show | a0001c0004t0079a0001c0014t0004a0001c0014t0006others(6): Show | a0001c0004t0079g0140 a0001c0014t0004g0170 a0001c0014t0006g0113 others(6): Show |
9 | 204 | 0.0441 | -8 | c.419 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 29/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73405467 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00733.hp1 others(16): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(15): Show | a0001c0001t0015a0001c0004t0010a0001c0005t0050others(16): Show | a0001c0001t0015g0072 a0001c0004t0010g0087 a0001c0005t0050g0032 others(16): Show |
19 | 204 | 0.0931 | -8 | c.248 others(27): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73411993 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp2 |
a0003a0005 | a0003c0017a0005c0012 | a0003c0017t0084a0005c0012t0081 | a0003c0017t0084g0149 a0005c0012t0081g0178 |
2 | 204 | 0.0098 | -8 | c.248 others(27): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73412061 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp2 NA18948.hp2 NA18990.hp2 |
a0006a0009 | a0006c0056a0006c0097a0009c0113 | a0006c0056t0002a0006c0097t0070a0009c0113t0064 | a0006c0056t0002g0162 a0006c0097t0070g0048 a0009c0113t0064g0023 |
3 | 204 | 0.0147 | -8 | c.248 others(27): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73457222 | TCTTCCTT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01167.hp2 others(17): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0009a0001c0002t0014a0001c0003t0051others(17): Show | a0001c0001t0009g0120 a0001c0002t0014g0097 a0001c0003t0051g0046 others(17): Show |
20 | 204 | 0.0980 | -8 | c.332 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483661 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01099.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(10): Show | a0001c0003t0051a0001c0004t0001a0001c0004t0019others(12): Show | a0001c0003t0051g0046 a0001c0004t0001g0110 a0001c0004t0019g0130 others(12): Show |
15 | 204 | 0.0735 | -8 | c.225 others(27): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483675 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG04115.hp1 NA19074.hp1 |
a0001a0026 | a0001c0006a0026c0074 | a0001c0006t0010a0026c0074t0009 | a0001c0006t0010g0131 a0026c0074t0009g0111 |
2 | 204 | 0.0098 | -8 | c.225 others(27): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73499859 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01192.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0025a0001c0001t0032a0001c0002t0065others(15): Show | a0001c0001t0025g0085 a0001c0001t0032g0001 a0001c0002t0065g0177 others(15): Show |
18 | 204 | 0.0882 | -8 | c.224 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73502079 | GCACATAC others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG01074.hp1 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0018others(6): Show | a0001c0001t0001a0001c0001t0068a0001c0002t0010others(7): Show | a0001c0001t0001g0128 a0001c0001t0001g0197 a0001c0001t0068g0012 others(8): Show |
11 | 204 | 0.0539 | -8 | c.224 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73504189 | CGTGCGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(40): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(39): Show | a0001c0001t0001g0197 a0001c0001t0002g0027 a0001c0001t0009g0139 others(40): Show |
43 | 204 | 0.2108 | -8 | c.224 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73504261 | TGTGTGAA others(1): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG01891.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0018others(9): Show | a0001c0001t0025a0001c0005t0001a0001c0005t0048others(10): Show | a0001c0001t0025g0085 a0001c0005t0001g0050 a0001c0005t0048g0145 others(10): Show |
13 | 204 | 0.0637 | -8 | c.224 others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73588387 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG02074.hp1 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(21): Show | a0001c0001t0001g0197 a0001c0001t0002g0027 a0001c0001t0009g0120 others(21): Show |
24 | 204 | 0.1177 | -8 | c.64+ others(25): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56299259 | CCACACAC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0202 a0001c0001t0002g0011 a0001c0001t0002g0016 others(40): Show |
67 | 398 | 0.1683 | -8 | c.*22 others(19): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 745 | chr8 | TogoVar | |||||||
SDR42E1_chr16_81983855_82016470 | 82004257 | TGAGCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02145.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0014a0002c0002t0048others(2): Show | a0002c0002t0011g0033 a0002c0002t0011g0195 a0002c0002t0014g0192 others(5): Show |
10 | 420 | 0.0238 | -8 | c.-26 others(25): Show |
SDR42E1 | ENSG00000184860.10 | transcript | ENST00000328945.7 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SDSL_chr12_113417380_113443276 | 113432209 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG00735.hp2 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0019 others(25): Show |
44 | 298 | 0.1477 | -8 | c.355 others(25): Show |
SDSL | ENSG00000139410.15 | transcript | ENST00000403593.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SDS_chr12_113387445_113408887 | 113396544 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01943.hp2 HG01993.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0057 others(7): Show |
13 | 344 | 0.0378 | -8 | c.653 others(23): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 6/7 | chr12 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84683384 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0037 others(10): Show |
13 | 320 | 0.0406 | -8 | c.312 others(25): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84700593 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0158 others(5): Show |
8 | 320 | 0.0250 | -8 | c.52- others(23): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC11C_chr18_59134884_59163832 | 59143352 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(229): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(87): Show |
232 | 444 | 0.5225 | -8 | c.87+ others(23): Show |
SEC11C | ENSG00000166562.9 | transcript | ENST00000587834.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEC13_chr3_10295931_10326112 | 10319761 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(140): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(69): Show |
143 | 380 | 0.3763 | -8 | c.3+1 others(21): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SEC13_chr3_10295931_10326112 | 10321693 | AATCTATC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01099.hp1 HG01123.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(16): Show |
21 | 380 | 0.0553 | -8 | c.-64 others(17): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 582 | chr3 | TogoVar | |||||||
SEC14L1_chr17_77135969_77222101 | 77145129 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01943.hp2 others(51): Show |
a0001a0005a0006 | a0001c0001a0005c0008a0006c0010 | a0001c0001t0002a0001c0001t0016a0001c0001t0030others(8): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0020 others(49): Show |
54 | 430 | 0.1256 | -8 | c.63+ others(23): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77158798 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG01168.hp1 others(39): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0063others(5): Show | a0001c0001t0001g0211 a0001c0001t0006g0001 a0001c0001t0006g0010 others(36): Show |
42 | 430 | 0.0977 | -8 | c.63+ others(25): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L2_chr22_30392018_30430303 | 30401186 | GATTTATT others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01069.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0259 a0001c0001t0001g0298 a0001c0001t0003g0154 others(28): Show |
40 | 420 | 0.0952 | -8 | c.130 others(25): Show |
SEC14L2 | ENSG00000100003.18 | transcript | ENST00000615189.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 4983877 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01884.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(15): Show | a0001c0001t0001g0355 a0001c0001t0006g0086 a0001c0001t0009g0115 others(25): Show |
28 | 376 | 0.0745 | -8 | c.64- others(23): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 5010188 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0031a0001c0002t0006others(1): Show | a0001c0001t0006g0086 a0001c0001t0031g0224 a0001c0002t0006g0130 others(4): Show |
7 | 376 | 0.0186 | -8 | c.180 others(25): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC16B_chr1_177923788_177975058 | 177948922 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00741.hp1 others(32): Show |
a0001a0003a0007others(2): Show | a0001c0005a0001c0006a0001c0013others(5): Show | a0001c0005t0001a0001c0006t0001a0001c0006t0018others(6): Show | a0001c0005t0001g0022 a0001c0005t0001g0107 a0001c0005t0001g0198 others(26): Show |
35 | 408 | 0.0858 | -8 | c.154 others(25): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 12/25 | chr1 | TogoVar | |||||||
SEC16B_chr1_177923788_177975058 | 177949383 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02698.hp1 others(5): Show |
a0001a0003a0005others(2): Show | a0001c0004a0001c0006a0003c0026others(3): Show | a0001c0004t0001a0001c0004t0004a0001c0006t0001others(4): Show | a0001c0004t0001g0139 a0001c0004t0004g0104 a0001c0006t0001g0174 others(5): Show |
8 | 408 | 0.0196 | -8 | c.154 others(27): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 12/25 | chr1 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123241002 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0195 a0001c0001t0001g0206 others(4): Show |
9 | 340 | 0.0265 | -8 | c.542 others(25): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123260131 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02027.hp2 HG02135.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0194 a0001c0001t0002g0026 a0001c0001t0002g0081 others(10): Show |
13 | 340 | 0.0382 | -8 | c.723 others(23): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39036320 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00621.hp1 others(42): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0007 | a0002c0002t0001g0010 a0002c0002t0001g0180 a0002c0002t0001g0181 others(42): Show |
45 | 366 | 0.1230 | -8 | c.220 others(27): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 19/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39077227 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0244 a0001c0001t0002g0245 others(5): Show |
9 | 366 | 0.0246 | -8 | c.829 others(25): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094371 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02258.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(17): Show |
20 | 366 | 0.0546 | -8 | c.222 others(25): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar |