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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA5_chr4_122918078_123324433 | 123007642 | A | ATACACAC others(4): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 239 | 0.0042 | 11 | c.187 others(32): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123074095 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02148.hp2 HG02165.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0074a0003c0003t0021others(2): Show | a0001c0001t0002g0056 a0001c0001t0002g0082 a0001c0001t0002g0230 others(4): Show |
7 | 66 | 0.1061 | 11 | c.221 others(32): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123095042 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 others(2): Show |
5 | 229 | 0.0218 | 11 | c.234 others(30): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123095042 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0239 a0001c0001t0006g0240 |
2 | 226 | 0.0088 | 11 | c.234 others(30): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123118355 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02165.hp1 HG02280.hp2 others(6): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0003 | a0001c0004t0011a0002c0002t0010a0003c0003t0021others(2): Show | a0001c0004t0011g0149 a0002c0002t0010g0150 a0002c0002t0010g0151 others(6): Show |
9 | 260 | 0.0346 | 11 | c.234 others(32): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123173340 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0093 | 1 | 21 | 0.0476 | 11 | c.234 others(32): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123189809 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0262 | 1 | 110 | 0.0091 | 11 | c.234 others(32): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4648714 | T | TAAATAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(106): Show |
112 | 239 | 0.4686 | 11 | c.226 others(28): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48299516 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01346.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0005 | a0001c0001t0003g0106 a0001c0001t0003g0109 a0002c0002t0001g0002 others(6): Show |
9 | 18 | 0.5000 | 11 | c.128 others(28): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48299516 | G | GGAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18968.hp2 NA18981.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 a0002c0002t0001g0051 |
2 | 11 | 0.1818 | 11 | c.128 others(28): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46162590 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01978.hp1 HG02109.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0003 | a0001c0001t0008g0189 a0002c0002t0003g0010 a0002c0002t0003g0051 others(2): Show |
6 | 26 | 0.2308 | 11 | c.545 others(26): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46164794 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0162 | 1 | 173 | 0.0058 | 11 | c.545 others(28): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0048a0001c0002t0013 | a0001c0001t0048g0221 a0001c0002t0013g0011 |
2 | 136 | 0.0147 | 11 | c.39+ others(26): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 135 | 0.0074 | 11 | c.39+ others(26): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200477515 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0032 | a0001c0001t0017g0142 a0001c0001t0032g0010 |
2 | 100 | 0.0200 | 11 | c.128 others(27): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49498145 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 26 | 0.0385 | 11 | c.703 others(28): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49498145 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03225.hp1 |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0004c0002t0002 | a0001c0001t0001g0147 a0004c0002t0002g0054 |
2 | 27 | 0.0741 | 11 | c.703 others(28): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516166 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 123 | 0.0081 | 11 | c.898 others(28): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516166 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 123 | 0.0081 | 11 | c.898 others(28): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPC24_chr19_11140493_11160782 | 11146465 | T | TAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0018others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(42): Show |
75 | 150 | 0.5000 | 11 | c.*70 others(20): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 5/5 | 717 | chr19 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819863 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 332 | 0.0030 | 11 | c.294 others(26): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYC_chr11_65165233_65178374 | 65166391 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 105 | 0.0095 | 11 | c.-39 others(22): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3841 | chr11 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73123788 | C | CTCTCTCT others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0044 | 1 | 17 | 0.0588 | 11 | c.-63 others(30): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73137593 | T | TGAAGAAA others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0006 | a0003c0006t0005 | a0003c0006t0005g0121 | 1 | 58 | 0.0172 | 11 | c.-64 others(32): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73150907 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0006 | a0003c0006t0008 | a0003c0006t0008g0126 | 1 | 165 | 0.0061 | 11 | c.-64 others(30): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76535198 | G | GTGGAGGG others(4): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0118 | 1 | 254 | 0.0039 | 11 | c.755 others(26): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77056411 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00597.hp1 HG06807.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0152 a0001c0001t0001g0171 |
3 | 170 | 0.0176 | 11 | c.669 others(26): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 5/8 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 44014620 | C | CGGAAGCG others(4): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0002 | 1 | 392 | 0.0026 | 11 | c.*59 others(22): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 4497 | chr7 | TogoVar | |||||||
SPDYE2B_chr7_102645319_102667625 | 102654324 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0051 | 1 | 11 | 0.0909 | 11 | c.380 others(26): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102656441 | T | TTTTTGTG others(4): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18747.hp2 |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0028 | a0003c0003t0004g0094 a0003c0003t0028g0096 |
2 | 67 | 0.0299 | 11 | c.669 others(26): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102656441 | T | TTTTTTTG others(4): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0003 | 1 | 66 | 0.0152 | 11 | c.669 others(26): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102656441 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01928.hp1 NA18950.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0003a0001c0005t0003a0001c0005t0012others(1): Show | a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0005t0003g0055 others(4): Show |
7 | 72 | 0.0972 | 11 | c.669 others(26): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102656441 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0003 | 1 | 66 | 0.0152 | 11 | c.669 others(26): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102664310 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 NA18984.hp2 NA18990.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0014a0001c0005t0012 | a0001c0001t0003g0025 a0001c0001t0014g0084 a0001c0005t0012g0086 |
3 | 57 | 0.0526 | 11 | c.*32 others(22): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 1686 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102555633 | C | CAACAACA others(4): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0022 | a0003c0022t0002 | a0003c0022t0002g0099 | 1 | 24 | 0.0417 | 11 | c.380 others(26): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102557336 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0101 | 1 | 85 | 0.0118 | 11 | c.669 others(26): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102557351 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02055.hp2 |
a0002a0003 | a0002c0009a0003c0022 | a0002c0009t0008a0003c0022t0002 | a0002c0009t0008g0130 a0003c0022t0002g0099 |
2 | 125 | 0.0160 | 11 | c.669 others(26): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102558794 | G | GCAGTTCG others(4): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0022 | 1 | 164 | 0.0061 | 11 | c.755 others(26): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102565227 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01123.hp1 others(11): Show |
a0001a0013 | a0001c0001a0001c0007a0013c0016 | a0001c0001t0001a0001c0007t0018a0013c0016t0013 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show |
14 | 89 | 0.1573 | 11 | c.*32 others(22): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 1690 | chr7 | TogoVar | |||||||
SPDYE6_chr7_102340746_102361444 | 102354030 | C | CTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 89 | 0.0112 | 11 | c.380 others(26): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE6_chr7_102340746_102361444 | 102354030 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02965.hp2 |
a0001a0009 | a0001c0007a0009c0014 | a0001c0007t0007a0009c0014t0001 | a0001c0007t0007g0065 a0009c0014t0001g0045 |
3 | 91 | 0.0330 | 11 | c.380 others(26): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE6_chr7_102340746_102361444 | 102359659 | G | GAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0003 | 1 | 5 | 0.2000 | 11 | c.-36 others(22): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 3216 | chr7 | TogoVar | |||||||
SPDYE8_chr7_73014719_73034766 | 73027469 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03654.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0008 a0001c0001t0001g0093 a0001c0001t0007g0103 |
3 | 138 | 0.0217 | 11 | c.130 others(26): Show |
SPDYE8 | ENSG00000273520.6 | transcript | ENST00000333385.11 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24269719 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 HG02818.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0012 | a0001c0001t0004g0068 a0001c0001t0009g0193 a0001c0001t0012g0322 |
3 | 275 | 0.0109 | 11 | c.-14 others(22): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1111 | chr22 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24288615 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 | 1 | 101 | 0.0099 | 11 | c.-38 others(30): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02055.hp2 HG02080.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0248 others(2): Show |
5 | 9 | 0.5556 | 11 | c.308 others(32): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24390878 | T | TCTTTTCT others(4): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0006 | a0006c0006 | a0006c0006t0019 | a0006c0006t0019g0069 | 1 | 324 | 0.0031 | 11 | c.308 others(32): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24417284 | C | CCTGCCGT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp1 | a0006 | a0006c0006 | a0006c0006t0019 | a0006c0006t0019g0069 | 1 | 324 | 0.0031 | 11 | c.*26 others(22): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2676 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20021675 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0004 | a0004c0005 | a0004c0005t0047 | a0004c0005t0047g0202 | 1 | 229 | 0.0044 | 11 | c.-22 others(30): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20118119 | A | AAATAATA others(4): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0006 | a0001c0006t0064 | a0001c0006t0064g0009 | 1 | 248 | 0.0040 | 11 | c.283 others(28): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |