regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG9_chr17_50957174_51125868 | 51089643 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0181 | 1 | 292 | 0.0034 | -22 | c.304 others(39): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | ||||||
SPAM1_chr7_123920241_123965046 | 123947578 | CCACACAC others(15): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0115a0001c0001t0001g0121others(2): Show | 5 | 388 | 0.0129 | -22 | c.-31 others(41): Show |
SPAM1 | ENSG00000106304.16 | transcript | ENST00000682466.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SPARCL1_chr4_87468335_87534376 | 87486888 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0207 | 1 | 390 | 0.0026 | -22 | c.153 others(41): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32110611 | ATATAGTG others(15): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02897.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0068a0001c0001t0013g0069a0001c0001t0013g0341 | 3 | 342 | 0.0088 | -22 | c.683 others(39): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATA13_chr13_24155720_24312069 | 24189774 | AATATATT others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01071.hp2 others(18): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0119a0001c0001t0002g0188a0001c0001t0003g0249others(18): Show | 21 | 356 | 0.0590 | -22 | c.-11 others(43): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SPATA16_chr3_172884357_173146235 | 173053983 | ATATATCA others(15): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02717.hp1 HG02818.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0171a0002c0002t0001g0007a0002c0002t0001g0125others(4): Show | 7 | 200 | 0.0350 | -22 | c.613 others(39): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84560099 | AAGAAAGA others(15): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0064 | 1 | 312 | 0.0032 | -22 | c.129 others(41): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPATA20_chr17_50542174_50560852 | 50554885 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00642.hp2 others(114): Show |
a0002a0004a0010others(1): Show | a0002c0002a0004c0004a0004c0020others(2): Show | a0002c0002t0001a0004c0004t0002a0004c0020t0002others(2): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0016others(28): Show | 117 | 334 | 0.3503 | -22 | c.215 others(39): Show |
SPATA20 | ENSG00000006282.22 | transcript | ENST00000006658.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPATA2_chr20_49898391_49920529 | 49903898 | GATAGATA others(15): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 HG03540.hp2 NA18959.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003 | a0001c0001t0025a0001c0010t0025a0002c0003t0091 | a0001c0001t0025g0183a0001c0001t0025g0200a0001c0010t0025g0120others(1): Show | 4 | 426 | 0.0094 | -22 | c.*16 others(33): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1699 | chr20 | TogoVar | |||||
SPATA2_chr20_49898391_49920529 | 49903902 | GATATATA others(15): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(115): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0012a0001c0002t0001a0001c0002t0012others(9): Show | a0001c0001t0012g0049a0001c0001t0012g0088a0001c0001t0012g0153others(36): Show | 118 | 426 | 0.2770 | -22 | c.*16 others(33): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1695 | chr20 | TogoVar | |||||
SPATA31C2_chr9_88124305_88143475 | 88137916 | ACAGAGAC others(15): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(167): Show |
a0000a0001a0002others(18): Show | a0000c0035a0000c0037a0001c0001others(31): Show | a0000c0035t0001a0000c0037t0001a0001c0001t0001others(32): Show | a0000c0035t0001g0123a0000c0037t0001g0110a0001c0001t0001g0023others(120): Show | 170 | 446 | 0.3812 | -22 | c.189 others(37): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SPATA31D3_chr9_81938500_81955093 | 81945273 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02083.hp2 HG02647.hp2 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0023 | a0001c0001t0001a0002c0002t0001a0006c0023t0006 | a0001c0001t0001g0025a0002c0002t0001g0025a0006c0023t0006g0050others(1): Show | 5 | 380 | 0.0132 | -22 | c.293 others(35): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPATA48_chr7_50090883_50164256 | 50125197 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0288 | 1 | 328 | 0.0031 | -22 | c.652 others(39): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SPATA48_chr7_50090883_50164256 | 50145614 | GTGTGTAT others(15): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01074.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0128a0001c0001t0001g0137others(4): Show | 8 | 328 | 0.0244 | -22 | c.108 others(41): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SPATA5_chr4_122918078_123324433 | 123007568 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | NA19084.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0193 | 2 | 262 | 0.0076 | -22 | c.187 others(43): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPATA5_chr4_122918078_123324433 | 123007592 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0158 | 1 | 262 | 0.0038 | -22 | c.187 others(43): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPATA5_chr4_122918078_123324433 | 123132596 | ACATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0106 | 1 | 262 | 0.0038 | -22 | c.234 others(43): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPATA6L_chr9_4593316_4671480 | 4597319 | TACACACA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02886.hp2 HG02970.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0014a0002c0005t0031 | a0001c0001t0014g0072a0001c0001t0014g0168a0001c0001t0014g0169others(1): Show | 4 | 408 | 0.0098 | -22 | c.*34 others(33): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 996 | chr9 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4650824 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(169): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012others(168): Show | 172 | 408 | 0.4216 | -22 | c.226 others(39): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48294026 | CTCTTACT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0098 | 1 | 322 | 0.0031 | -22 | c.*46 others(33): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 1346 | chr1 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49403594 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 158 | 0.0063 | -22 | c.-24 others(43): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SPCS2_chr11_74944266_74984033 | 74955851 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0022a0001c0001t0002g0287a0001c0001t0002g0289others(3): Show | 8 | 378 | 0.0212 | -22 | c.114 others(39): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SPDYA_chr2_28805834_28855610 | 28819839 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 338 | 0.0030 | -22 | c.294 others(37): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPDYA_chr2_28805834_28855610 | 28819845 | AAAAAATA others(15): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205a0001c0001t0001g0218 | 2 | 338 | 0.0059 | -22 | c.294 others(37): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPDYA_chr2_28805834_28855610 | 28819847 | AAAATATA others(15): Show |
A | intron_variant | MODIFIER | NA18962.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0242 | 2 | 338 | 0.0059 | -22 | c.294 others(37): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPDYA_chr2_28805834_28855610 | 28819849 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02738.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201a0001c0001t0001g0249a0001c0001t0001g0262 | 3 | 338 | 0.0089 | -22 | c.294 others(37): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPDYA_chr2_28805834_28855610 | 28834081 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 338 | 0.0030 | -22 | c.552 others(39): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPDYC_chr11_65165233_65178374 | 65166391 | CTTTTTTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(5): Show | 47 | 442 | 0.1063 | -22 | c.-39 others(33): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3841 | chr11 | TogoVar | ||||||
SPDYE10_chr7_73099008_73160431 | 73137785 | GGAAGGGG others(15): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02572.hp1 others(4): Show |
a0002a0005 | a0002c0004a0005c0007 | a0002c0004t0004a0002c0004t0016a0005c0007t0009 | a0002c0004t0004g0123a0002c0004t0004g0124a0002c0004t0004g0126others(4): Show | 7 | 216 | 0.0324 | -22 | c.-64 others(43): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
SPDYE12_chr7_74899289_74920078 | 74912770 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00733.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0012 | a0001c0001t0004g0010a0001c0001t0004g0012a0001c0001t0004g0042others(6): Show | 16 | 350 | 0.0457 | -22 | c.130 others(37): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
SPDYE1_chr7_43992897_44015124 | 43994396 | AAGAAAGA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG03704.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007a0001c0001t0006g0009 | 2 | 394 | 0.0051 | -22 | c.-39 others(33): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3500 | chr7 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02451.hp2 NA18948.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0002a0001c0002t0010others(1): Show | a0001c0001t0003g0154a0001c0002t0002g0090a0001c0002t0010g0196others(1): Show | 4 | 326 | 0.0123 | -22 | c.308 others(43): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20217740 | ACTTCTTT others(15): Show |
A | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0116 | 1 | 250 | 0.0040 | -22 | c.186 others(41): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPEF2_chr5_35612863_35819611 | 35749837 | GAATTATA others(15): Show |
G | intron_variant | MODIFIER | NA18952.hp1 | a0030 | a0030c0043 | a0030c0043t0001 | a0030c0043t0001g0226 | 1 | 268 | 0.0037 | -22 | c.333 others(41): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SPI1_chr11_47349860_47383547 | 47365662 | AACTTTCA others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp1 others(121): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0062a0001c0001t0001g0063others(87): Show | 124 | 390 | 0.3180 | -22 | c.143 others(39): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47386904 | GATATAGA others(15): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0069a0001c0001t0002g0056a0001c0001t0002g0129others(8): Show | 11 | 216 | 0.0509 | -22 | c.526 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPIDR_chr8_47255938_47741306 | 47588026 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02165.hp1 HG02572.hp2 HG03834.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0005c0005t0001 | a0001c0001t0001g0083a0001c0001t0002g0034a0001c0001t0002g0142others(3): Show | 6 | 216 | 0.0278 | -22 | c.109 others(41): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPIDR_chr8_47255938_47741306 | 47640841 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG03942.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0099a0001c0001t0001g0101 | 3 | 216 | 0.0139 | -22 | c.154 others(43): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPIDR_chr8_47255938_47741306 | 47702076 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02922.hp2 HG03654.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0186a0001c0001t0001g0187others(1): Show | 4 | 216 | 0.0185 | -22 | c.197 others(37): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702077 | TCTCTCTC others(15): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 216 | 0.0046 | -22 | c.197 others(37): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPIDR_chr8_47255938_47741306 | 47702079 | TCTCTCTC others(15): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0007 | a0010c0007t0001 | a0010c0007t0001g0200 | 1 | 216 | 0.0046 | -22 | c.197 others(37): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPIDR_chr8_47255938_47741306 | 47735095 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0002a0002c0002t0002a0007c0008t0002 | a0001c0001t0002g0129a0002c0002t0002g0017a0002c0002t0002g0018others(3): Show | 6 | 216 | 0.0278 | -22 | c.260 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPIN1_chr9_88383444_88483694 | 88395331 | GCGTTCTA others(15): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0005others(58): Show | 61 | 176 | 0.3466 | -22 | c.-15 others(41): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPINK6_chr5_148198042_148220137 | 148212488 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102a0002c0002t0001g0106 | 2 | 438 | 0.0046 | -22 | c.82- others(37): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SPINT2_chr19_38259573_38297615 | 38259639 | ATTTTTTT others(15): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02135.hp2 NA18939.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0225others(7): Show | 12 | 400 | 0.0300 | -22 | c.-52 others(33): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4933 | chr19 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12597157 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | NA19060.hp2 NA19088.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0320a0001c0004t0003g0321 | 2 | 328 | 0.0061 | -22 | c.372 others(41): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4512640 | GTGTGCGT others(15): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0339 | 1 | 404 | 0.0025 | -22 | c.371 others(37): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPNS2_chr17_4493881_4544035 | 4540153 | CGAGGCTC others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02109.hp2 HG02145.hp1 others(18): Show |
a0001 | a0001c0001a0001c0009a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0041a0001c0001t0001g0221a0001c0001t0002g0106others(18): Show | 21 | 404 | 0.0520 | -22 | c.*27 others(33): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 1119 | chr17 | TogoVar | ||||||
SPOCK1_chr5_136970298_137504326 | 137356798 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 152 | 0.0066 | -22 | c.187 others(41): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 166752567 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0019a0001c0001t0004g0105 | 2 | 144 | 0.0139 | -22 | c.931 others(39): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 8/10 | chr4 | TogoVar |