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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG9_chr17_50957174_51125868 | 51106102 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 a0001c0002t0001g0289 |
2 | 32 | 0.0625 | -18 | c.303 others(37): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPANXB1_chrX_140997594_141008706 | 141002760 | GAGGCCAA others(11): Show |
G | conservative_inframe_deletion | MODERATE | HG03831.hp1 NA18961.hp1 NA18965.hp1 |
a0004a0008 | a0004c0003a0008c0005 | a0004c0003t0003a0004c0003t0006a0008c0005t0004 | a0004c0003t0003g0010 a0004c0003t0006g0010 a0008c0005t0004g0015 |
3 | 299 | 0.0100 | -18 | c.70_ others(23): Show |
p.Ala others(11): Show |
SPANXB1 | ENSG00000227234.2 | transcript | ENST00000449283.2 | protein_coding | 1/2 | 170/466 | 70/312 | 24/103 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
SPANXN2_chrX_143706955_143725752 | 143710067 | GGTGTGTG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 37 | 0.0270 | -18 | c.*19 others(29): Show |
SPANXN2 | ENSG00000268988.2 | transcript | ENST00000598475.2 | protein_coding | 1887 | chrX | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87486888 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 a0002c0001t0002g0297 a0002c0001t0002g0345 others(1): Show |
8 | 47 | 0.1702 | -18 | c.153 others(37): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87496022 | ATTAGAGG others(11): Show |
A | intron_variant | MODIFIER | HG00544.hp1 NA18939.hp2 NA18946.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0028 others(6): Show |
9 | 388 | 0.0232 | -18 | c.55- others(31): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151673966 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0113 | 1 | 211 | 0.0047 | -18 | c.120 others(33): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32091245 | CTATTATT others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0167 others(2): Show |
5 | 24 | 0.2083 | -18 | c.586 others(35): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32146851 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0004 a0001c0001t0011g0006 |
2 | 223 | 0.0090 | -18 | c.168 others(35): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24173362 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0020 | a0020c0020 | a0020c0020t0101 | a0020c0020t0101g0025 | 1 | 26 | 0.0385 | -18 | c.-11 others(39): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 172967776 | TATGAGAA others(11): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 198 | 0.0051 | -18 | c.933 others(35): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173100660 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG02970.hp2 others(1): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0061 a0002c0005t0001g0007 a0002c0005t0001g0074 others(1): Show |
4 | 38 | 0.1053 | -18 | c.612 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173137822 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 23 | 0.0435 | -18 | c.-19 others(35): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217786750 | TTTCTTCT others(11): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03453.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0090 a0001c0001t0005g0084 a0001c0001t0005g0089 |
3 | 38 | 0.0789 | -18 | c.872 others(35): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84529506 | TGAAACGT others(11): Show |
T | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0222 | 1 | 310 | 0.0032 | -18 | c.545 others(35): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA22_chr17_3435019_3476819 | 3435327 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(91): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(3): Show | a0001c0001t0001g0059 a0001c0001t0001g0208 a0001c0001t0001g0210 others(59): Show |
94 | 131 | 0.7176 | -18 | c.*48 others(29): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 4691 | chr17 | TogoVar | |||||||
SPATA2_chr20_49898391_49920529 | 49903898 | GATAGATA others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 351 | 0.0028 | -18 | c.*17 others(29): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1703 | chr20 | TogoVar | ||||||
SPATA2_chr20_49898391_49920529 | 49903902 | GATATATA others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG02572.hp1 HG02818.hp1 others(11): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0016a0001c0002t0014a0002c0003t0022others(1): Show | a0001c0001t0016g0015 a0001c0001t0016g0034 a0001c0002t0014g0011 others(4): Show |
14 | 94 | 0.1489 | -18 | c.*16 others(29): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1699 | chr20 | TogoVar | ||||||
SPATA31A7_chr9_61185036_61201280 | 61189919 | GCCTCCCC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp1 HG02717.hp2 |
a0008 | a0008c0019 | a0008c0019t0003 | a0008c0019t0003g0018 | 2 | 220 | 0.0091 | -18 | c.-14 others(27): Show |
SPATA31A7 | ENSG00000276040.5 | transcript | ENST00000619167.2 | protein_coding | 116 | chr9 | TogoVar | |||||||
SPATA31C1_chr9_87912962_87928657 | 87919273 | CGTCATCT others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00423.hp2 HG00597.hp2 others(47): Show |
a0003 | a0003c0004a0003c0013a0003c0027others(3): Show | a0003c0004t0001a0003c0013t0001a0003c0027t0001others(3): Show | a0003c0004t0001g0002 a0003c0004t0001g0008 a0003c0013t0001g0002 others(4): Show |
50 | 386 | 0.1295 | -18 | c.212 others(25): Show |
p.His others(11): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 2/4 | 241/3779 | 212/3567 | 71/1188 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
SPATA31D3_chr9_81938500_81955093 | 81945273 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp1 NA18747.hp1 NA19057.hp2 |
a0001a0016 | a0001c0001a0016c0017 | a0001c0001t0001a0016c0017t0001 | a0001c0001t0001g0027 a0016c0017t0001g0027 |
3 | 66 | 0.0455 | -18 | c.293 others(31): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA32_chr17_45249393_45267094 | 45250258 | TACACACA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0075 |
2 | 65 | 0.0308 | -18 | c.*41 others(29): Show |
SPATA32 | ENSG00000184361.13 | transcript | ENST00000331780.5 | protein_coding | 4134 | chr17 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50145614 | GTGTGTAT others(11): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG03209.hp2 NA18747.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0167 others(3): Show |
6 | 139 | 0.0432 | -18 | c.108 others(37): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA4_chr4_176179579_176200585 | 176194722 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(191): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(31): Show |
194 | 219 | 0.8858 | -18 | c.218 others(33): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 122948387 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0015 | 1 | 61 | 0.0164 | -18 | c.171 others(35): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017151 | GGGGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0207 |
2 | 260 | 0.0077 | -18 | c.187 others(39): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4597319 | TACACACA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0042 a0001c0001t0002g0005 a0001c0001t0002g0008 others(105): Show |
111 | 169 | 0.6568 | -18 | c.*34 others(29): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 996 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4650824 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014a0001c0001t0019others(2): Show | a0001c0001t0012g0151 a0001c0001t0014g0085 a0001c0001t0019g0084 others(2): Show |
5 | 26 | 0.1923 | -18 | c.226 others(35): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48383307 | CTGACCCC others(11): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0161 | 1 | 320 | 0.0031 | -18 | c.909 others(35): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48384350 | CAGGGAGA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0108 others(76): Show |
79 | 150 | 0.5267 | -18 | c.909 others(33): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATS2L_chr2_200301693_200487264 | 200352311 | TTTTATAT others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0004a0001c0002t0013a0002c0004t0063 | a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0002t0013g0006 others(2): Show |
5 | 13 | 0.3846 | -18 | c.-23 others(37): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49375141 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 53 | 0.0189 | -18 | c.-24 others(37): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49442786 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | NA18982.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0117 |
2 | 90 | 0.0222 | -18 | c.-24 others(39): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74955851 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01884.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0014g0143 |
3 | 36 | 0.0833 | -18 | c.114 others(35): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819845 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 306 | 0.0033 | -18 | c.294 others(33): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28823702 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 60 | 0.0167 | -18 | c.380 others(35): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYC_chr11_65165233_65178374 | 65166391 | CTTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 105 | 0.0095 | -18 | c.-39 others(29): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3841 | chr11 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73156149 | CTCTCTCT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 216 | 0.0046 | -18 | c.-14 others(29): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 719 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74912770 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02735.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0029 | 2 | 9 | 0.2222 | -18 | c.130 others(33): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43994400 | AAGAAAGA others(11): Show |
A | upstream_gene_variant | MODIFIER | NA19007.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 2 | 345 | 0.0058 | -18 | c.-39 others(29): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3496 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67274831 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01346.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 a0001c0001t0005g0016 a0001c0001t0005g0020 others(11): Show |
36 | 79 | 0.4557 | -18 | c.-26 others(29): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 2109 | chr7 | TogoVar | |||||||
SPDYE9_chr7_73070972_73091038 | 73083722 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03516.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0004g0012 others(1): Show |
4 | 155 | 0.0258 | -18 | c.130 others(33): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE9_chr7_73070972_73091038 | 73083734 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 33 | 0.0303 | -18 | c.130 others(33): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0022 | a0001c0001t0009g0083 a0001c0001t0009g0085 a0001c0001t0012g0320 others(1): Show |
4 | 8 | 0.5000 | -18 | c.308 others(39): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24419434 | TAAGGGCC others(11): Show |
T | downstream_gene_variant | MODIFIER | HG04115.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0262 |
2 | 324 | 0.0062 | -18 | c.*48 others(29): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1697 | chr22 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20254134 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 66 | 0.0152 | -18 | c.268 others(35): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPEF1_chr20_3772504_3786448 | 3780416 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 202 | 0.0050 | -18 | c.110 others(33): Show |
SPEF1 | ENSG00000101222.12 | transcript | ENST00000379756.3 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35661254 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(34): Show |
a0002a0003a0004others(6): Show | a0002c0001a0003c0004a0003c0050others(9): Show | a0002c0001t0001a0003c0004t0001a0003c0050t0001others(9): Show | a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 others(31): Show |
37 | 61 | 0.6066 | -18 | c.116 others(37): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35713772 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG02257.hp1 others(24): Show |
a0005a0006a0010others(3): Show | a0005c0006a0006c0007a0006c0008others(4): Show | a0005c0006t0001a0006c0007t0001a0006c0008t0001others(4): Show | a0005c0006t0001g0001 a0005c0006t0001g0172 a0005c0006t0001g0173 others(21): Show |
27 | 266 | 0.1015 | -18 | c.291 others(35): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35751078 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG02486.hp1 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0013 a0013c0017t0001g0014 |
2 | 96 | 0.0208 | -18 | c.333 others(37): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35785327 | CAAATGTG others(11): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(1): Show |
a0007a0020 | a0007c0016a0020c0053 | a0007c0016t0001a0020c0053t0001 | a0007c0016t0001g0127 a0007c0016t0001g0129 a0007c0016t0001g0130 others(1): Show |
4 | 266 | 0.0150 | -18 | c.444 others(37): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |