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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCCPDH_chr1_246719409_246773137 | 246722502 | AATATAT | A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01261.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0033 others(8): Show |
15 | 410 | 0.0366 | -6 | c.-19 others(17): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 1906 | chr1 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82649180 | GGTGTGT | G | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00738.hp1 others(92): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 others(92): Show |
95 | 210 | 0.4524 | -6 | c.570 others(25): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82664961 | ATCTCTC | A | intron_variant | MODIFIER | HG01081.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0070 a0001c0001t0003g0098 |
2 | 210 | 0.0095 | -6 | c.569 others(25): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82664995 | CTCTCTA | C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0002t0009others(1): Show | a0001c0001t0004g0079 a0001c0001t0009g0198 a0001c0002t0009g0206 others(1): Show |
4 | 210 | 0.0191 | -6 | c.569 others(25): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82689370 | TAAAAAG | T | intron_variant | MODIFIER | HG00280.hp2 HG01884.hp2 HG02004.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0178 a0001c0001t0002g0099 a0001c0001t0002g0156 others(22): Show |
25 | 210 | 0.1191 | -6 | c.364 others(23): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82700787 | TAAAAAA | T | intron_variant | MODIFIER | HG00738.hp2 HG01175.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0001t0001g0178 others(5): Show |
8 | 210 | 0.0381 | -6 | c.363 others(23): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82712243 | CATATAT | C | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02896.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0104 a0001c0001t0002g0030 others(7): Show |
10 | 210 | 0.0476 | -6 | c.233 others(23): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82741099 | ATTTTTT | A | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01167.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0024 others(58): Show |
61 | 210 | 0.2905 | -6 | c.233 others(25): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82771650 | ACATGGT | A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG01192.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0096 others(37): Show |
40 | 210 | 0.1905 | -6 | c.232 others(25): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82800975 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0057 a0001c0001t0008g0197 a0001c0001t0009g0198 others(5): Show |
8 | 210 | 0.0381 | -6 | c.-24 others(17): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2180 | chr4 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77594012 | TCCTTCC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(330): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0012others(18): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(25): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 others(322): Show |
333 | 356 | 0.9354 | -6 | c.752 others(21): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCEL_chr13_77530706_77650263 | 77616002 | CTCTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp2 HG01261.hp2 others(4): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0002c0001t0007a0003c0003t0001 | a0002c0001t0001g0262 a0002c0001t0001g0265 a0002c0001t0001g0269 others(4): Show |
7 | 356 | 0.0197 | -6 | c.145 others(25): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 24/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCEL_chr13_77530706_77650263 | 77633442 | CAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG02647.hp2 HG02717.hp1 others(3): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0001 | a0002c0001t0001g0177 a0003c0003t0001g0335 a0003c0003t0001g0339 others(3): Show |
6 | 356 | 0.0169 | -6 | c.169 others(23): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703910 | CATATAT | C | intron_variant | MODIFIER | HG00735.hp2 HG02083.hp2 NA18952.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0239 a0002c0002t0001g0269 a0002c0002t0001g0270 others(1): Show |
4 | 328 | 0.0122 | -6 | c.149 others(25): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703958 | TATATAA | T | intron_variant | MODIFIER | HG01934.hp1 HG02148.hp1 HG03704.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0053 others(2): Show |
5 | 328 | 0.0152 | -6 | c.149 others(25): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30710332 | TAAAAAA | T | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp2 NA18522.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0004 | a0001c0001t0001a0001c0010t0001a0003c0004t0002 | a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0052 others(6): Show |
9 | 328 | 0.0274 | -6 | c.162 others(25): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 52875802 | CTATATA | C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01243.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0107 a0001c0001t0001g0121 others(9): Show |
12 | 162 | 0.0741 | -6 | c.196 others(25): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53133327 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG02004.hp2 HG02129.hp2 others(10): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0002a0001c0004t0003a0001c0004t0006others(2): Show | a0001c0004t0002g0053 a0001c0004t0003g0051 a0001c0004t0003g0134 others(10): Show |
13 | 162 | 0.0803 | -6 | c.156 others(27): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53138853 | TCTCCCC | T | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02896.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0008a0003c0008t0002others(1): Show | a0001c0001t0001g0123 a0001c0001t0008g0041 a0003c0008t0002g0146 others(2): Show |
5 | 162 | 0.0309 | -6 | c.156 others(25): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53188418 | GGTGTGT | G | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp2 HG01358.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(4): Show | a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0133 others(16): Show |
19 | 162 | 0.1173 | -6 | c.131 others(27): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53212575 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG01168.hp1 HG01169.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0048 a0001c0001t0001g0101 a0002c0002t0001g0005 others(20): Show |
23 | 162 | 0.1420 | -6 | c.131 others(27): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53239429 | GGAGGGA | G | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01358.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(28): Show |
31 | 162 | 0.1914 | -6 | c.131 others(27): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53256910 | CGGGGAG | C | intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0086 a0001c0001t0002g0087 others(2): Show |
5 | 162 | 0.0309 | -6 | c.131 others(27): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53258538 | GTATATA | G | intron_variant | MODIFIER | HG01261.hp2 HG02004.hp1 HG02258.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(6): Show |
9 | 162 | 0.0556 | -6 | c.131 others(27): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCG2_chr2_223591940_223607361 | 223605912 | GATATAT | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0003a0001c0003t0001 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(6): Show |
37 | 394 | 0.0939 | -6 | c.-36 others(17): Show |
SCG2 | ENSG00000171951.5 | transcript | ENST00000305409.3 | protein_coding | 3552 | chr2 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51689398 | GGGGTGT | G | intron_variant | MODIFIER | HG00597.hp2 HG04115.hp2 NA18747.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0115 a0001c0001t0001g0228 a0001c0001t0001g0339 others(12): Show |
15 | 402 | 0.0373 | -6 | c.690 others(19): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51693425 | ATTTGTT | A | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02717.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0007a0005c0007t0007 | a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065 others(4): Show |
7 | 402 | 0.0174 | -6 | c.868 others(23): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51704240 | CATACAT | C | intron_variant | MODIFIER | NA18946.hp1 NA18981.hp1 NA18982.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0051 a0001c0001t0005g0074 a0001c0001t0005g0075 others(3): Show |
6 | 402 | 0.0149 | -6 | c.120 others(25): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51704764 | CATATAT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02717.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0007 | a0001c0001t0013a0001c0006t0011a0005c0007t0007 | a0001c0001t0013g0221 a0001c0006t0011g0010 a0005c0007t0007g0061 |
4 | 402 | 0.0100 | -6 | c.120 others(25): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709697 | ATATATT | A | intron_variant | MODIFIER | HG01517.hp1 HG02109.hp2 NA18940.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0279 a0001c0001t0001g0338 a0001c0001t0002g0135 others(3): Show |
6 | 402 | 0.0149 | -6 | c.120 others(25): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709699 | ATATTTT | A | intron_variant | MODIFIER | HG01175.hp1 NA18941.hp2 NA18960.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015 | a0001c0001t0002g0001 a0001c0001t0002g0112 a0001c0001t0002g0133 others(3): Show |
9 | 402 | 0.0224 | -6 | c.120 others(25): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51710752 | ATTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(119): Show |
a0001a0006 | a0001c0001a0001c0011a0006c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0120 others(115): Show |
122 | 402 | 0.3035 | -6 | c.120 others(25): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG5_chr15_32636710_32702092 | 32663032 | AATATAT | A | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp2 HG01993.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0131 others(3): Show |
6 | 415 | 0.0145 | -6 | c.227 others(25): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG5_chr15_32636710_32702092 | 32672930 | AAAAGAG | A | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0073 a0001c0001t0001g0109 a0001c0001t0001g0110 others(10): Show |
13 | 415 | 0.0313 | -6 | c.227 others(23): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB1C1_chr11_188078_199575 | 191799 | ACCTAAC | A | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01934.hp1 HG01943.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 5 | 354 | 0.0141 | -6 | c.-13 others(17): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1278 | chr11 | TogoVar | |||||||
SCGB1C1_chr11_188078_199575 | 191824 | CCCCTAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01243.hp2 others(29): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0001a0002c0001t0002 | a0001c0004t0001g0001 a0002c0001t0002g0001 a0002c0001t0002g0005 others(3): Show |
32 | 354 | 0.0904 | -6 | c.-12 others(17): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1253 | chr11 | TogoVar | |||||||
SCGB1C1_chr11_188078_199575 | 191862 | CCCCTAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG00738.hp2 others(16): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0004t0001a0002c0001t0002 | a0001c0002t0001g0002 a0001c0004t0001g0001 a0001c0004t0001g0009 others(3): Show |
19 | 354 | 0.0537 | -6 | c.-12 others(17): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1215 | chr11 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141876 | CCTGACT | C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02717.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0009 a0003c0003t0001g0009 |
7 | 402 | 0.0174 | -6 | c.*29 others(17): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2810 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141882 | TCTGACC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(194): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0001 others(10): Show |
197 | 402 | 0.4901 | -6 | c.*29 others(17): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2816 | chr17 | TogoVar | |||||||
SCGB1D4_chr11_62291281_62304075 | 62298010 | TTGTGTG | T | intron_variant | MODIFIER | HG01496.hp2 HG02486.hp1 HG02622.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0059 |
15 | 430 | 0.0349 | -6 | c.56- others(19): Show |
SCGB1D4 | ENSG00000197745.3 | transcript | ENST00000358585.3 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
SCGB2A1_chr11_62203673_62218943 | 62210386 | CTTTTTT | C | splice_region_variant others(1): Show |
LOW | HG01928.hp2 NA18947.hp1 NA18947.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0152 a0001c0001t0001g0169 others(4): Show |
9 | 442 | 0.0204 | -6 | c.56- others(16): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2A1_chr11_62203673_62218943 | 62213071 | CATATAT | C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0058 a0001c0001t0001g0059 others(3): Show |
10 | 442 | 0.0226 | -6 | c.244 others(21): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2A2_chr11_62265158_62278160 | 62271494 | AAGACAC | A | intron_variant | MODIFIER | HG01496.hp2 HG02129.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0043 |
3 | 390 | 0.0077 | -6 | c.243 others(21): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCGB2A2_chr11_62265158_62278160 | 62277841 | GCCCTCT | G | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00735.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(5): Show |
28 | 390 | 0.0718 | -6 | c.*48 others(17): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 4682 | chr11 | TogoVar | |||||||
SCGB2A2_chr11_62265158_62278160 | 62277904 | CTCTCCG | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0022 |
4 | 390 | 0.0103 | -6 | c.*49 others(17): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 4745 | chr11 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34594652 | CGTGTGT | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(50): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0019others(9): Show | a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 others(50): Show |
53 | 370 | 0.1432 | -6 | c.-95 others(13): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 2/4 | 90 | chr19 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159297126 | TTGTGTG | T | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp2 HG01169.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0050 others(21): Show |
24 | 100 | 0.2400 | -6 | c.63+ others(23): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159345548 | CTCTCTT | C | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(1): Show |
4 | 100 | 0.0400 | -6 | c.63+ others(23): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159373040 | ATTTGTT | A | intron_variant | MODIFIER | HG00438.hp1 HG02027.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(4): Show |
7 | 100 | 0.0700 | -6 | c.63+ others(23): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159432286 | ATGTGTG | A | intron_variant | MODIFIER | HG01167.hp1 HG02735.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0069 others(2): Show |
5 | 100 | 0.0500 | -6 | c.63+ others(25): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |