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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCP2_chr1_52922276_53056698 | 53038264 | A | ATATGT | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01069.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0217 a0001c0001t0001g0251 a0001c0001t0002g0010 others(49): Show |
52 | 280 | 0.1857 | 5 | c.133 others(22): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | chr1 | TogoVar | |||||||
SCPEP1_chr17_56973131_57011768 | 56985103 | T | TGAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(317): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(172): Show |
320 | 380 | 0.8421 | 5 | c.226 others(20): Show |
SCPEP1 | ENSG00000121064.13 | transcript | ENST00000262288.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SCRN1_chr7_29915109_29994801 | 29962689 | C | CATAAA | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01070.hp2 others(45): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0243 a0001c0001t0003g0003 a0001c0001t0003g0004 others(42): Show |
48 | 274 | 0.1752 | 5 | c.159 others(22): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SCRN1_chr7_29915109_29994801 | 29973976 | A | AGAAAT | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01192.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004a0002c0002t0034 | a0001c0001t0002g0186 a0002c0002t0004g0049 a0002c0002t0004g0050 others(17): Show |
20 | 274 | 0.0730 | 5 | c.-1- others(20): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
SCRN1_chr7_29915109_29994801 | 29974685 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01192.hp2 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0034 | a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0004g0051 others(15): Show |
18 | 274 | 0.0657 | 5 | c.-1- others(20): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
SCRN3_chr2_174390730_174434575 | 174426771 | C | CCAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0018 | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0027 others(28): Show |
40 | 364 | 0.1099 | 5 | c.109 others(22): Show |
SCRN3 | ENSG00000144306.15 | transcript | ENST00000272732.11 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43192633 | T | TATATA | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02895.hp1 NA19068.hp1 |
a0001a0002a0005 | a0001c0004a0002c0002a0005c0016 | a0001c0004t0037a0002c0002t0002a0005c0016t0002 | a0001c0004t0037g0249 a0002c0002t0002g0146 a0005c0016t0002g0025 |
3 | 280 | 0.0107 | 5 | c.*11 others(18): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4646 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43296786 | A | AGGGAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0002a0003others(12): Show | a0001c0003a0001c0004a0001c0006others(36): Show | a0001c0003t0003a0001c0003t0006a0001c0003t0055others(71): Show | a0001c0003t0003g0001 a0001c0003t0003g0035 a0001c0003t0003g0037 others(149): Show |
154 | 280 | 0.5500 | 5 | c.350 others(22): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43319558 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02559.hp2 others(3): Show |
a0001a0002a0007 | a0001c0004a0001c0010a0002c0002others(2): Show | a0001c0004t0016a0001c0010t0033a0002c0002t0018others(3): Show | a0001c0004t0016g0015 a0001c0010t0033g0006 a0002c0002t0018g0012 others(3): Show |
6 | 280 | 0.0214 | 5 | c.349 others(20): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43347273 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp1 others(81): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0004a0001c0006others(27): Show | a0001c0003t0003a0001c0004t0004a0001c0004t0039others(44): Show | a0001c0003t0003g0035 a0001c0003t0003g0037 a0001c0003t0003g0050 others(81): Show |
84 | 280 | 0.3000 | 5 | c.-40 others(16): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3902 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9038870 | T | TTTTTC | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01106.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0005a0001c0010others(6): Show | a0001c0002t0002a0001c0005t0010a0001c0010t0001others(7): Show | a0001c0002t0002g0020 a0001c0005t0010g0036 a0001c0010t0001g0038 others(11): Show |
14 | 358 | 0.0391 | 5 | c.200 others(24): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
SCUBE3_chr6_35208956_35258079 | 35214318 | C | CCCCCT | 5_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02280.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0010a0001c0001t0038a0004c0004t0051 | a0001c0001t0010g0136 a0001c0001t0010g0149 a0001c0001t0010g0173 others(4): Show |
7 | 290 | 0.0241 | 5 | c.-91 others(12): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/22 | 86 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCUBE3_chr6_35208956_35258079 | 35217222 | C | CGGGGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01243.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0099 others(13): Show |
16 | 290 | 0.0552 | 5 | c.85+ others(20): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCX_chr8_144261453_144273481 | 144262838 | G | GCCCCC | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02451.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0003 others(1): Show |
20 | 440 | 0.0455 | 5 | c.-37 others(16): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 3614 | chr8 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227389878 | T | TTTTTC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0007a0003c0004others(1): Show | a0001c0003t0001a0002c0007t0001a0003c0004t0001others(1): Show | a0001c0003t0001g0000 a0002c0007t0001g0000 a0003c0004t0001g0000 others(1): Show |
52 | 454 | 0.1145 | 5 | c.-19 others(16): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1930 | chr2 | TogoVar | |||||||
SCYGR3_chr2_227609538_227619840 | 227610047 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG01074.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0005t0001g0000 others(4): Show |
45 | 462 | 0.0974 | 5 | c.*44 others(16): Show |
SCYGR3 | ENSG00000284704.1 | transcript | ENST00000642029.1 | protein_coding | 4490 | chr2 | TogoVar | |||||||
SCYGR3_chr2_227609538_227619840 | 227613437 | G | GTAACA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00673.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0005t0001g0000 |
37 | 462 | 0.0801 | 5 | c.*11 others(16): Show |
SCYGR3 | ENSG00000284704.1 | transcript | ENST00000642029.1 | protein_coding | 1100 | chr2 | TogoVar | |||||||
SCYGR4_chr2_227612498_227622815 | 227613437 | G | GTAACA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00673.hp2 others(35): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0003c0004t0001g0000 others(1): Show |
38 | 458 | 0.0830 | 5 | c.-40 others(16): Show |
SCYGR4 | ENSG00000284631.2 | transcript | ENST00000641801.2 | protein_coding | 4060 | chr2 | TogoVar | |||||||
SCYGR5_chr2_227661804_227672061 | 227667486 | A | ATGGTG | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0000 a0004c0005t0001g0000 |
5 | 460 | 0.0109 | 5 | c.*42 others(14): Show |
SCYGR5 | ENSG00000284667.1 | transcript | ENST00000641976.1 | protein_coding | 426 | chr2 | TogoVar | |||||||
SCYGR5_chr2_227661804_227672061 | 227669564 | A | AAAAAT | downstream_gene_variant | MODIFIER | HG02717.hp1 HG03486.hp1 NA18944.hp2 others(1): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0006 | a0001c0001t0001a0004c0005t0001a0005c0006t0001 | a0001c0001t0001g0000 a0004c0005t0001g0000 a0005c0006t0001g0000 |
4 | 460 | 0.0087 | 5 | c.*25 others(16): Show |
SCYGR5 | ENSG00000284667.1 | transcript | ENST00000641976.1 | protein_coding | 2504 | chr2 | TogoVar | |||||||
SCYGR5_chr2_227661804_227672061 | 227669623 | A | ATAAAC | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01256.hp2 others(13): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0003c0004others(1): Show | a0001c0001t0001a0001c0007t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0000 a0001c0007t0001g0000 a0003c0004t0001g0000 others(1): Show |
16 | 460 | 0.0348 | 5 | c.*25 others(16): Show |
SCYGR5 | ENSG00000284667.1 | transcript | ENST00000641976.1 | protein_coding | 2563 | chr2 | TogoVar | |||||||
SCYGR5_chr2_227661804_227672061 | 227670614 | A | ATAGAT | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02647.hp1 others(2): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0001a0004c0005t0001 | a0003c0004t0001g0000 a0004c0005t0001g0000 |
5 | 460 | 0.0109 | 5 | c.*35 others(16): Show |
SCYGR5 | ENSG00000284667.1 | transcript | ENST00000641976.1 | protein_coding | 3554 | chr2 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227750651 | C | CAATAA | downstream_gene_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG02055.hp1 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 others(2): Show |
25 | 457 | 0.0547 | 5 | c.*44 others(16): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 4432 | chr2 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227750701 | T | TATATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(404): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(8): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 others(8): Show |
407 | 457 | 0.8906 | 5 | c.*44 others(16): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 4482 | chr2 | TogoVar | |||||||
SCYL3_chr1_169844631_169898896 | 169845687 | C | CTTCCA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(102): Show | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 others(230): Show |
312 | 418 | 0.7464 | 5 | c.*80 others(16): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 3943 | chr1 | TogoVar | |||||||
SCYL3_chr1_169844631_169898896 | 169850980 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0021a0001c0001t0022a0001c0001t0023others(8): Show | a0001c0001t0021g0298 a0001c0001t0021g0304 a0001c0001t0021g0312 others(17): Show |
23 | 418 | 0.0550 | 5 | c.*27 others(16): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2732 | chr1 | TogoVar | ||||||
SCYL3_chr1_169844631_169898896 | 169853347 | T | TAAAGA | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01169.hp1 others(12): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0029a0003c0004t0053 | a0003c0004t0007g0013 a0003c0004t0007g0036 a0003c0004t0007g0139 others(8): Show |
15 | 418 | 0.0359 | 5 | c.*36 others(14): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 365 | chr1 | TogoVar | ||||||
SCYL3_chr1_169844631_169898896 | 169854036 | T | TTTTTC | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0047others(2): Show | a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0018g0203 others(4): Show |
9 | 418 | 0.0215 | 5 | c.200 others(22): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
SCYL3_chr1_169844631_169898896 | 169854155 | G | GCTTGA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(252): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(86): Show | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 others(183): Show |
255 | 418 | 0.6101 | 5 | c.200 others(22): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75959097 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00621.hp1 others(24): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(4): Show | a0002c0003t0001g0022 a0002c0003t0001g0039 a0002c0003t0001g0042 others(24): Show |
27 | 376 | 0.0718 | 5 | c.148 others(22): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 17/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75994045 | A | ATATAT | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0160 a0001c0001t0005g0157 a0001c0001t0008g0156 others(4): Show |
7 | 376 | 0.0186 | 5 | c.-32 others(16): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3101 | chr4 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96536306 | C | CTTTTA | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG03041.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0149 a0001c0001t0002g0234 a0002c0002t0002g0127 |
3 | 334 | 0.0090 | 5 | c.60+ others(22): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96537945 | T | TTTTTG | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG02109.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(19): Show |
23 | 334 | 0.0689 | 5 | c.60+ others(22): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96576416 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01934.hp2 HG02080.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0002g0076 others(32): Show |
35 | 334 | 0.1048 | 5 | c.61- others(22): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC3_chr1_30864466_30913758 | 30893303 | G | GCCCCC | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0016others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(20): Show | a0001c0001t0002g0098 a0001c0001t0002g0173 a0001c0001t0005g0331 others(30): Show |
34 | 386 | 0.0881 | 5 | c.139 others(24): Show |
SDC3 | ENSG00000162512.16 | transcript | ENST00000339394.7 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SDC3_chr1_30864466_30913758 | 30905356 | A | ACACAC | intron_variant | MODIFIER | HG01106.hp1 HG04204.hp2 NA18964.hp1 |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0007 | a0002c0002t0001a0003c0003t0019a0005c0007t0040 | a0002c0002t0001g0133 a0003c0003t0019g0218 a0005c0007t0040g0239 |
3 | 386 | 0.0078 | 5 | c.138 others(22): Show |
SDC3 | ENSG00000162512.16 | transcript | ENST00000339394.7 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SDCBP2_chr20_1304909_1334139 | 1310432 | G | GCCCTC | 3_prime_UTR_variant | MODIFIER | NA18948.hp1 NA18948.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0039 a0001c0001t0009g0116 |
3 | 430 | 0.0070 | 5 | c.*8_ others(10): Show |
SDCBP2 | ENSG00000125775.15 | transcript | ENST00000360779.4 | protein_coding | 9/9 | 8 | chr20 | TogoVar | ||||||
SDCBP2_chr20_1304909_1334139 | 1311900 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0109 others(44): Show |
54 | 430 | 0.1256 | 5 | c.732 others(20): Show |
SDCBP2 | ENSG00000125775.15 | transcript | ENST00000360779.4 | protein_coding | 7/8 | chr20 | TogoVar | |||||||
SDCBP2_chr20_1304909_1334139 | 1314488 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01069.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0003 | a0001c0001t0002g0245 a0001c0001t0003g0167 a0003c0003t0003g0015 others(6): Show |
11 | 430 | 0.0256 | 5 | c.226 others(20): Show |
SDCBP2 | ENSG00000125775.15 | transcript | ENST00000360779.4 | protein_coding | 4/8 | chr20 | TogoVar | |||||||
SDCBP_chr8_58548261_58587858 | 58557153 | T | TATATA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(204): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(88): Show |
207 | 388 | 0.5335 | 5 | c.-16 others(22): Show |
SDCBP | ENSG00000137575.12 | transcript | ENST00000260130.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCBP_chr8_58548261_58587858 | 58572800 | C | CTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 7 | 388 | 0.0180 | 5 | c.240 others(20): Show |
SDCBP | ENSG00000137575.12 | transcript | ENST00000260130.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243266776 | C | CAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG02258.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(5): Show |
8 | 189 | 0.0423 | 5 | c.68- others(20): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243296535 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01070.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0040 others(43): Show |
46 | 189 | 0.2434 | 5 | c.675 others(22): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2L1_chr22_21637302_21649299 | 21639255 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show |
39 | 430 | 0.0907 | 5 | c.-30 others(16): Show |
SDF2L1 | ENSG00000128228.5 | transcript | ENST00000248958.5 | protein_coding | 3046 | chr22 | TogoVar | |||||||
SDHAF2_chr11_61425124_61451733 | 61427026 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0101 others(2): Show |
9 | 238 | 0.0378 | 5 | c.-31 others(16): Show |
SDHAF2 | ENSG00000167985.7 | transcript | ENST00000301761.7 | protein_coding | 3097 | chr11 | TogoVar | |||||||
SDHAF2_chr11_61425124_61451733 | 61434591 | C | CTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0036 |
5 | 238 | 0.0210 | 5 | c.37- others(20): Show |
SDHAF2 | ENSG00000167985.7 | transcript | ENST00000301761.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SDHAF4_chr6_70561930_70594569 | 70565183 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02293.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0007t0001a0002c0002t0006others(1): Show | a0001c0001t0002g0097 a0001c0007t0001g0094 a0002c0002t0006g0093 others(5): Show |
9 | 370 | 0.0243 | 5 | c.-17 others(16): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 1746 | chr6 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 230634 | T | TAAATA | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01168.hp2 others(7): Show |
a0002a0005 | a0002c0003a0005c0005 | a0002c0003t0004a0005c0005t0004a0005c0005t0006 | a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 others(6): Show |
10 | 266 | 0.0376 | 5 | c.771 others(20): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 247995 | A | ATTAAC | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01168.hp2 others(7): Show |
a0002a0005 | a0002c0003a0005c0005 | a0002c0003t0004a0005c0005t0004a0005c0005t0006 | a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 others(6): Show |
10 | 266 | 0.0376 | 5 | c.155 others(24): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SDHB_chr1_17013722_17059032 | 17015989 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp2 others(46): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 others(43): Show |
49 | 368 | 0.1332 | 5 | c.*28 others(16): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 2732 | chr1 | TogoVar |