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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRGAP3_chr3_8975591_9254646 | 9138935 | C | CTGTTGGT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0023a0001c0002t0004others(3): Show | a0001c0001t0002g0187 a0001c0001t0023g0134 a0001c0002t0004g0092 others(5): Show |
8 | 226 | 0.0354 | 7 | c.68- others(24): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9142829 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(73): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0028 others(73): Show |
76 | 168 | 0.4524 | 7 | c.68- others(24): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9154982 | T | TTGTTTTA | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG02027.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0028 a0001c0001t0001g0163 a0001c0001t0001g0208 others(11): Show |
14 | 226 | 0.0619 | 7 | c.68- others(24): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9214986 | G | GAGGATAA | intron_variant | MODIFIER | HG00597.hp2 HG01074.hp1 HG01169.hp2 others(24): Show |
a0001a0006 | a0001c0001a0001c0013a0006c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0052 others(24): Show |
27 | 226 | 0.1195 | 7 | c.67+ others(24): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4197421 | C | CTTCTTTT | intron_variant | MODIFIER | HG01361.hp2 HG02280.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0028 | a0001c0001t0008g0018 a0001c0001t0008g0020 a0001c0001t0008g0022 others(7): Show |
10 | 79 | 0.1266 | 7 | c.376 others(22): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4210486 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0184 others(13): Show |
16 | 20 | 0.8000 | 7 | c.62- others(22): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63546582 | T | TCAGCCCC | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG01884.hp1 others(28): Show |
a0003a0005a0007others(4): Show | a0003c0004a0005c0007a0007c0010others(4): Show | a0003c0004t0002a0003c0004t0020a0005c0007t0002others(5): Show | a0003c0004t0002g0003 a0003c0004t0002g0022 a0003c0004t0002g0038 others(12): Show |
31 | 338 | 0.0917 | 7 | c.356 others(22): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63546643 | T | TCAGCCCC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG02602.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0015 | 4 | 354 | 0.0113 | 7 | c.356 others(22): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062578 | C | CATTATAT | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(21): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0016others(2): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0009others(3): Show | a0001c0001t0002g0056 a0001c0003t0001g0006 a0001c0003t0001g0007 others(15): Show |
24 | 351 | 0.0684 | 7 | c.562 others(24): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062636 | T | TTATATAA | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp2 HG01891.hp2 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 others(19): Show |
25 | 315 | 0.0794 | 7 | c.562 others(24): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062657 | T | TTATATAA | intron_variant | MODIFIER | HG00639.hp2 HG01358.hp2 HG01891.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0020 a0001c0001t0002g0040 a0001c0001t0002g0046 others(15): Show |
20 | 332 | 0.0602 | 7 | c.562 others(24): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062666 | A | ATATAATG | intron_variant | MODIFIER | HG02809.hp2 HG02970.hp2 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 a0001c0003t0001g0313 |
3 | 364 | 0.0082 | 7 | c.562 others(24): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062669 | C | CATTATAT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 others(7): Show |
10 | 343 | 0.0292 | 7 | c.562 others(24): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP72_chr4_56462617_56508681 | 56484026 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG01192.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0008a0001c0002t0003a0001c0002t0007others(4): Show | a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0002t0003g0001 others(40): Show |
61 | 194 | 0.3144 | 7 | c.958 others(22): Show |
SRP72 | ENSG00000174780.17 | transcript | ENST00000642900.1 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRPK1_chr6_35827966_35926098 | 35915991 | A | AAAAATAT | intron_variant | MODIFIER | HG01358.hp2 HG01515.hp2 HG01517.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0018a0001c0003t0004 | a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 others(6): Show |
9 | 299 | 0.0301 | 7 | c.74+ others(22): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105291044 | C | CAAAAAAA | intron_variant | MODIFIER | HG03017.hp2 HG03491.hp2 NA18955.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 others(5): Show |
8 | 94 | 0.0851 | 7 | c.72- others(24): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105312437 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(101): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 others(101): Show |
104 | 244 | 0.4262 | 7 | c.71+ others(24): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105320828 | A | ACACTAGG | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG01884.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(20): Show |
23 | 280 | 0.0821 | 7 | c.71+ others(24): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105331308 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp1 HG02293.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 others(7): Show |
10 | 48 | 0.2083 | 7 | c.71+ others(24): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105383052 | A | ATTTTTTT | intron_variant | MODIFIER | HG02155.hp2 HG02293.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(4): Show |
7 | 26 | 0.2692 | 7 | c.71+ others(22): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPRA_chr11_126257938_126273895 | 126261155 | G | GAAATGTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(299): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0024 others(31): Show |
302 | 373 | 0.8097 | 7 | c.*27 others(18): Show |
SRPRA | ENSG00000182934.12 | transcript | ENST00000332118.11 | protein_coding | 1782 | chr11 | TogoVar | |||||||
SRPX2_chrX_100639199_100680788 | 100657349 | C | CTTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01256.hp1 HG02129.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0090 others(10): Show |
17 | 31 | 0.5484 | 7 | c.164 others(24): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SRRD_chr22_26478877_26499658 | 26490559 | C | CTTTTTTT | intron_variant | MODIFIER | HG02074.hp2 HG02280.hp2 HG03471.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0015 a0001c0001t0002g0015 a0001c0001t0005g0097 others(1): Show |
11 | 68 | 0.1618 | 7 | c.764 others(22): Show |
SRRD | ENSG00000100104.13 | transcript | ENST00000215917.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76263875 | G | GCCAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01070.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0072 others(23): Show |
26 | 282 | 0.0922 | 7 | c.675 others(22): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 8/14 | chr7 | TogoVar | |||||||
SRRM4_chr12_118976541_119168051 | 118998268 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00741.hp2 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0005g0152 others(8): Show |
11 | 94 | 0.1170 | 7 | c.131 others(26): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRSF10_chr1_23959347_23985327 | 23979057 | G | GTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01175.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0026 a0001c0001t0005g0012 a0001c0001t0005g0110 others(5): Show |
14 | 85 | 0.1647 | 7 | c.66- others(20): Show |
SRSF10 | ENSG00000188529.15 | transcript | ENST00000492112.3 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SRSF11_chr1_70216380_70258052 | 70217970 | G | GTTTGTTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00639.hp2 others(82): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(51): Show |
85 | 334 | 0.2545 | 7 | c.-36 others(18): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 3409 | chr1 | TogoVar | |||||||
SRSF12_chr6_89090959_89123071 | 89092223 | A | AAAAAAAC | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0022 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(14): Show |
35 | 272 | 0.1287 | 7 | c.*63 others(18): Show |
SRSF12 | ENSG00000154548.9 | transcript | ENST00000452027.3 | protein_coding | 3735 | chr6 | TogoVar | |||||||
SRSF1_chr17_57995919_58012246 | 57996483 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(11): Show |
88 | 232 | 0.3793 | 7 | c.*89 others(18): Show |
SRSF1 | ENSG00000136450.13 | transcript | ENST00000258962.5 | protein_coding | 4435 | chr17 | TogoVar | |||||||
SRSF3_chr6_36589362_36610600 | 36601001 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0022others(1): Show | a0001c0001t0002g0008 a0001c0001t0002g0113 a0001c0001t0002g0131 others(6): Show |
16 | 159 | 0.1006 | 7 | c.342 others(22): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36601940 | C | CTTTTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp1 HG02559.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0020 | a0001c0001t0006g0154 a0001c0001t0009g0039 a0001c0001t0009g0040 others(1): Show |
6 | 250 | 0.0240 | 7 | c.468 others(18): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF8_chr11_95061919_95076225 | 95070368 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(122): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0024others(13): Show | a0001c0001t0001g0000 a0001c0001t0015g0000 a0001c0001t0024g0000 others(13): Show |
125 | 128 | 0.9766 | 7 | c.*23 others(18): Show |
SRSF8 | ENSG00000263465.5 | transcript | ENST00000587424.3 | protein_coding | 1/1 | 2310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SS18L1_chr20_62138769_62187514 | 62146605 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(42): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(37): Show |
45 | 90 | 0.5000 | 7 | c.69+ others(22): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62183065 | C | CGGGAGCG | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp2 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0007others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0015others(4): Show | a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0020 others(28): Show |
35 | 303 | 0.1155 | 7 | c.*38 others(18): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 552 | chr20 | TogoVar | |||||||
SS18L2_chr3_42585860_42601934 | 42591201 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG02055.hp1 HG02109.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0036 a0001c0001t0003g0014 others(5): Show |
25 | 190 | 0.1316 | 7 | c.69+ others(20): Show |
SS18L2 | ENSG00000008324.12 | transcript | ENST00000011691.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SSBP2_chr5_81407804_81756097 | 81547036 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01175.hp2 HG01258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0025 a0001c0001t0004g0081 a0001c0001t0005g0164 others(10): Show |
13 | 15 | 0.8667 | 7 | c.283 others(26): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54276608 | C | CACAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp1 others(54): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0056 others(54): Show |
57 | 117 | 0.4872 | 7 | c.366 others(24): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 5/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54303378 | C | CCAGGGGG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00642.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0055 others(58): Show |
61 | 263 | 0.2319 | 7 | c.277 others(26): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSB_chr2_169793871_169817064 | 169800534 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00738.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0098 others(8): Show |
17 | 25 | 0.6800 | 7 | c.-9- others(20): Show |
SSB | ENSG00000138385.16 | transcript | ENST00000260956.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SSC4D_chr7_76384337_76414697 | 76405340 | T | TTTCTTTC | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp1 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0004a0002c0002a0003c0003others(4): Show | a0001c0004t0003a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0004t0003g0087 a0001c0004t0003g0089 a0002c0002t0001g0128 others(74): Show |
108 | 369 | 0.2927 | 7 | c.-66 others(22): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76411013 | A | AAAAAAAG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(45): Show |
a0001a0004a0013 | a0001c0001a0001c0005a0004c0006others(2): Show | a0001c0001t0004a0001c0005t0001a0001c0005t0002others(3): Show | a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0005t0001g0008 others(37): Show |
48 | 248 | 0.1935 | 7 | c.-16 others(18): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1317 | chr7 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29680551 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01167.hp1 others(12): Show |
a0001a0010a0011 | a0001c0001a0010c0018a0011c0011 | a0001c0001t0001a0001c0001t0015a0001c0001t0021others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 others(12): Show |
15 | 64 | 0.2344 | 7 | c.480 others(24): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 6/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29725347 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02004.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0171 a0001c0001t0002g0140 a0001c0001t0002g0150 others(11): Show |
14 | 27 | 0.5185 | 7 | c.189 others(26): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29779810 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(21): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0001c0001t0011a0002c0002t0002others(4): Show | a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0143 others(21): Show |
24 | 107 | 0.2243 | 7 | c.188 others(26): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29784065 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01167.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0011a0002c0002t0002others(3): Show | a0001c0001t0001g0215 a0001c0001t0011g0163 a0001c0001t0011g0214 others(8): Show |
11 | 79 | 0.1392 | 7 | c.188 others(24): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29842139 | G | GGGGGGGT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(103): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(103): Show |
106 | 229 | 0.4629 | 7 | c.144 others(24): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 2/15 | chr17 | TogoVar | |||||||
SSPN_chr12_26190573_26239777 | 26201046 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01123.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0043 a0001c0001t0002g0058 a0001c0001t0002g0076 others(16): Show |
19 | 229 | 0.0830 | 7 | c.279 others(24): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
SSTR5_chr16_1067747_1086454 | 1076184 | T | TCCCTCCC | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0006a0002c0002t0002 | a0001c0001t0001g0091 a0001c0005t0006g0007 a0001c0005t0006g0092 others(1): Show |
12 | 343 | 0.0350 | 7 | c.-27 others(24): Show |
SSTR5 | ENSG00000162009.10 | transcript | ENST00000689027.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
SSU72_chr1_1536673_1579863 | 1558204 | T | TAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01175.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0086 others(17): Show |
21 | 99 | 0.2121 | 7 | c.224 others(24): Show |
SSU72 | ENSG00000160075.12 | transcript | ENST00000291386.4 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SSU72_chr1_1536673_1579863 | 1567912 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(86): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(74): Show |
89 | 162 | 0.5494 | 7 | c.81- others(22): Show |
SSU72 | ENSG00000160075.12 | transcript | ENST00000291386.4 | protein_coding | 1/4 | chr1 | TogoVar |