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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPSB1_chr1_9287894_9374532 | 9295195 | TGTGTGTG others(15): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0036 | 1 | 368 | 0.0027 | -22 | c.-15 others(41): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9309291 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0001t0020others(1): Show | a0001c0001t0003g0131 a0001c0001t0017g0207 a0001c0001t0020g0197 others(2): Show |
5 | 356 | 0.0140 | -22 | c.-15 others(43): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141151326 | TTGTGTGT others(15): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0194 | 1 | 244 | 0.0041 | -22 | c.*40 others(33): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2716 | chr3 | TogoVar | |||||||
SPSB4_chr3_141046347_141153611 | 141151357 | TGTGTGTG others(15): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0227 | 1 | 244 | 0.0041 | -22 | c.*40 others(33): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2747 | chr3 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128562970 | AAATATAT others(15): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00621.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0027 | a0001c0001t0001a0001c0003t0001a0001c0027t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0003t0001g0133 others(2): Show |
5 | 310 | 0.0161 | -22 | c.-3- others(37): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | chr9 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128562983 | CATGTATG others(15): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01496.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0167 a0001c0008t0001g0168 a0001c0008t0001g0169 others(3): Show |
6 | 162 | 0.0370 | -22 | c.-3- others(37): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54466561 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0098 a0001c0004t0004g0132 |
2 | 252 | 0.0079 | -22 | c.-48 others(41): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54481391 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0071 a0001c0004t0004g0092 |
2 | 56 | 0.0357 | -22 | c.-48 others(41): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54508518 | TGGGCTAG others(15): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02273.hp2 HG02486.hp2 others(13): Show |
a0001 | a0001c0002a0001c0005a0001c0007others(1): Show | a0001c0002t0006a0001c0005t0008a0001c0005t0011others(3): Show | a0001c0002t0006g0154 a0001c0005t0008g0041 a0001c0005t0008g0048 others(13): Show |
16 | 368 | 0.0435 | -22 | c.-47 others(41): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77564397 | GCATACAC others(15): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 244 | 0.0041 | -22 | c.757 others(39): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13067044 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0190 | 1 | 9 | 0.1111 | -22 | c.304 others(39): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTSSB_chr3_161339798_161376517 | 161369292 | TTCTTTCT others(15): Show |
T | intron_variant | MODIFIER | HG00673.hp1 NA18962.hp1 NA18964.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0166 others(4): Show |
14 | 394 | 0.0355 | -22 | c.-12 others(41): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
SQLE_chr8_124993505_125027283 | 125001468 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 376 | 0.0027 | -22 | c.292 others(39): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SRBD1_chr2_45383680_45616267 | 45421506 | CAAACAAA others(15): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02622.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 |
3 | 165 | 0.0182 | -22 | c.205 others(41): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRCAP_chr16_30694171_30746409 | 30702575 | CTCCCTCC others(15): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA18965.hp1 NA18980.hp2 |
a0001a0012 | a0001c0001a0012c0019 | a0001c0001t0001a0012c0019t0001 | a0001c0001t0001g0040 a0001c0001t0001g0138 a0012c0019t0001g0002 |
3 | 206 | 0.0146 | -22 | c.55- others(37): Show |
SRCAP | ENSG00000080603.17 | transcript | ENST00000262518.9 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SRC_chr20_37341140_37411050 | 37365319 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0134 | 1 | 18 | 0.0556 | -22 | c.-17 others(37): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRD5A2_chr2_31517480_31585938 | 31583630 | AAAAAAAA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 384 | 0.0026 | -22 | c.-27 others(33): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 2693 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31583641 | AAAAAAAA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02615.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(4): Show |
7 | 384 | 0.0182 | -22 | c.-27 others(33): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 2704 | chr2 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55343115 | CAAAAAAA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0003 others(41): Show |
67 | 72 | 0.9306 | -22 | c.-32 others(33): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 3126 | chr4 | TogoVar | |||||||
SREK1_chr5_66139300_66188615 | 66184223 | GTTTTTTT others(15): Show |
G | downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 9 | 0.1111 | -22 | c.*53 others(33): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 609 | chr5 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63983797 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02300.hp2 HG03139.hp2 NA18906.hp2 |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0071a0001c0002t0031a0003c0005t0134 | a0001c0001t0071g0011 a0001c0002t0031g0063 a0003c0005t0134g0162 |
3 | 23 | 0.1304 | -22 | c.68- others(34): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63992660 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG03098.hp1 NA20805.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0140a0001c0002t0034 | a0001c0001t0140g0012 a0001c0002t0034g0001 |
2 | 13 | 0.1538 | -22 | c.426 others(39): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64101308 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0039a0001c0002t0044 | a0001c0002t0039g0019 a0001c0002t0044g0082 |
2 | 66 | 0.0303 | -22 | c.181 others(41): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2B_chr1_144882288_145100328 | 144882623 | TGCAAAAA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0007 | a0007c0007 | a0007c0007t0018 | a0007c0007t0018g0001 | 1 | 54 | 0.0185 | -22 | c.*95 others(33): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4664 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145044650 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0011 | 1 | 6 | 0.1667 | -22 | c.67+ others(39): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145068893 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0007 | a0007c0007 | a0007c0007t0018 | a0007c0007t0018g0001 | 1 | 3 | 0.3333 | -22 | c.67+ others(39): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206263671 | ATTGAGTA others(15): Show |
A | intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 | 1 | 180 | 0.0056 | -22 | c.68- others(39): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9096960 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 NA20805.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0121 a0001c0001t0001g0168 a0001c0001t0002g0167 others(1): Show |
4 | 226 | 0.0177 | -22 | c.423 others(39): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63535842 | CCTCACCT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 354 | 0.0028 | -22 | c.*49 others(33): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2646 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63535980 | CCTCACCT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0016 | 1 | 354 | 0.0028 | -22 | c.*48 others(33): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2508 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63536020 | CCCCCTCC others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0009 | 1 | 354 | 0.0028 | -22 | c.*47 others(33): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2468 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63536044 | CCCCTCCT others(15): Show |
C | downstream_gene_variant | MODIFIER | NA19070.hp1 | a0006 | a0006c0008 | a0006c0008t0010 | a0006c0008t0010g0064 | 1 | 354 | 0.0028 | -22 | c.*47 others(33): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2444 | chr20 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34981184 | TACACACA others(15): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0346 a0001c0001t0002g0380 |
2 | 11 | 0.1818 | -22 | c.-20 others(33): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1807 | chr14 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34995134 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 | 1 | 145 | 0.0069 | -22 | c.-33 others(39): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76062729 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01891.hp2 NA19030.hp1 NA19043.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0004c0009t0003 | a0001c0001t0002g0160 a0004c0009t0003g0019 |
3 | 68 | 0.0441 | -22 | c.562 others(39): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105205513 | TCTCTCAC others(15): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 262 | 0.0038 | -22 | c.72- others(37): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRRD_chr22_26478877_26499658 | 26483989 | GCCCCGGG others(15): Show |
G | frameshift_variant | HIGH | NA18976.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0010 | 1 | 446 | 0.0022 | -22 | c.103 others(29): Show |
p.Arg others(4): Show |
SRRD | ENSG00000100104.13 | transcript | ENST00000215917.11 | protein_coding | 1/7 | 117/4020 | 103/1020 | 35/339 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SRRM2_chr16_2747638_2776412 | 2753067 | CGTTCGCA others(15): Show |
C | intron_variant | MODIFIER | NA18973.hp1 NA19000.hp1 NA19060.hp1 others(1): Show |
a0001a0046 | a0001c0002a0046c0065 | a0001c0002t0003a0046c0065t0003 | a0001c0002t0003g0025 a0001c0002t0003g0069 a0046c0065t0003g0025 |
4 | 400 | 0.0100 | -22 | c.-32 others(37): Show |
SRRM2 | ENSG00000167978.19 | transcript | ENST00000301740.13 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119137587 | GGAGAGAG others(15): Show |
G | intron_variant | MODIFIER | NA18955.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0120 a0001c0001t0015g0121 |
2 | 19 | 0.1053 | -22 | c.771 others(39): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM5_chr19_43607088_43619498 | 43607374 | CACACACA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 414 | 0.0024 | -22 | c.-47 others(33): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 4713 | chr19 | TogoVar | |||||||
SRSF11_chr1_70216380_70258052 | 70243336 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 14 | 0.1429 | -22 | c.801 others(39): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRSF12_chr6_89090959_89123071 | 89099408 | ATATATAC others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0122 | 1 | 374 | 0.0027 | -22 | c.417 others(37): Show |
SRSF12 | ENSG00000154548.9 | transcript | ENST00000452027.3 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62163701 | TCGGGGAG others(15): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG02965.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0056 a0001c0001t0001g0125 a0001c0001t0002g0178 others(6): Show |
9 | 312 | 0.0288 | -22 | c.721 others(37): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18_chr18_26011253_26095613 | 26060771 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0235 |
2 | 16 | 0.1250 | -22 | c.232 others(39): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81488010 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0206 | 1 | 134 | 0.0075 | -22 | c.432 others(39): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 6/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501212 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02976.hp1 NA18984.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0041a0001c0002t0016a0001c0002t0020 | a0001c0001t0041g0084 a0001c0002t0016g0047 a0001c0002t0020g0188 |
3 | 113 | 0.0265 | -22 | c.373 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501248 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0060 | 1 | 204 | 0.0049 | -22 | c.373 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501250 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 1 | 204 | 0.0049 | -22 | c.373 others(41): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54252518 | CGGGACAG others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(168): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0103 others(168): Show |
171 | 278 | 0.6151 | -22 | c.508 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 7/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54316659 | ATAAAATA others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0138 a0001c0001t0002g0036 a0001c0001t0002g0094 others(8): Show |
11 | 251 | 0.0438 | -22 | c.277 others(41): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar |