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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEH1L_chr18_12943011_12992531 | 12958064 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(92): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(90): Show |
95 | 388 | 0.2449 | -13 | c.309 others(30): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13850465 | CAAATGAA others(6): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 324 | 0.0031 | -13 | c.181 others(30): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 18/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13872249 | GTTTAGAT others(6): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 a0001c0001t0001g0255 |
2 | 324 | 0.0062 | -13 | c.110 others(32): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 12/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13888809 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | NA18943.hp1 NA18952.hp2 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0043 others(1): Show |
4 | 324 | 0.0124 | -13 | c.550 others(28): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13908970 | TTATTGTT others(6): Show |
T | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 324 | 0.0031 | -13 | c.549 others(30): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13909505 | GCCGGGAG others(6): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG02071.hp2 HG02523.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(5): Show |
8 | 324 | 0.0247 | -13 | c.549 others(30): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934375 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | NA18943.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 a0001c0001t0001g0232 |
2 | 324 | 0.0062 | -13 | c.115 others(30): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934390 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 324 | 0.0031 | -13 | c.115 others(30): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934405 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG03195.hp2 HG03834.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0154 a0001c0001t0001g0212 a0001c0001t0001g0267 others(2): Show |
5 | 324 | 0.0154 | -13 | c.115 others(30): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25750234 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01074.hp2 others(69): Show |
a0001a0002a0018others(2): Show | a0001c0001a0001c0003a0001c0036others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 others(69): Show |
72 | 312 | 0.2308 | -13 | c.326 others(32): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 23/23 | chr4 | TogoVar | |||||||
SELENOI_chr2_26341143_26400885 | 26398037 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 334 | 0.0030 | -13 | c.*89 others(24): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 2153 | chr2 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25817943 | GCCTCCCC others(6): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01891.hp2 |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0166 a0001c0003t0013g0170 |
2 | 392 | 0.0051 | -13 | c.*22 others(24): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 13/13 | 2229 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SELENOO_chr22_50196011_50222616 | 50222588 | CCTGCCTG others(6): Show |
C | downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 438 | 0.0023 | -13 | c.*52 others(24): Show |
SELENOO | ENSG00000073169.15 | transcript | ENST00000380903.7 | protein_coding | 4973 | chr22 | TogoVar | |||||||
SELENOS_chr15_101267191_101282485 | 101269193 | CAGGGGTT others(6): Show |
C | downstream_gene_variant | MODIFIER | NA19059.hp1 | a0007 | a0007c0006 | a0007c0006t0011 | a0007c0006t0011g0071 | 1 | 448 | 0.0022 | -13 | c.*35 others(24): Show |
SELENOS | ENSG00000131871.15 | transcript | ENST00000526049.6 | protein_coding | 2997 | chr15 | TogoVar | |||||||
SELENOT_chr3_150598321_150635436 | 150602830 | TGGAATTG others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 380 | 0.0026 | -13 | c.-53 others(22): Show |
SELENOT | ENSG00000198843.14 | transcript | ENST00000471696.6 | protein_coding | 490 | chr3 | TogoVar | |||||||
SELENOT_chr3_150598321_150635436 | 150617714 | ATATAATA others(6): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 380 | 0.0026 | -13 | c.138 others(30): Show |
SELENOT | ENSG00000198843.14 | transcript | ENST00000471696.6 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
SELENOT_chr3_150598321_150635436 | 150633350 | GTTATATA others(6): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 380 | 0.0026 | -13 | c.*57 others(24): Show |
SELENOT | ENSG00000198843.14 | transcript | ENST00000471696.6 | protein_coding | 2915 | chr3 | TogoVar | |||||||
SELENOV_chr19_39510139_39525675 | 39510557 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0043 | 1 | 436 | 0.0023 | -13 | c.-46 others(24): Show |
SELENOV | ENSG00000186838.15 | transcript | ENST00000335426.9 | protein_coding | 4581 | chr19 | TogoVar | |||||||
SELENOW_chr19_47773703_47789682 | 47776208 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0046 others(1): Show |
11 | 406 | 0.0271 | -13 | c.-25 others(24): Show |
SELENOW | ENSG00000178980.16 | transcript | ENST00000601048.6 | protein_coding | 2494 | chr19 | TogoVar | |||||||
SELPLG_chr12_108616895_108638894 | 108622379 | AGGCGATA others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02055.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0012a0003c0003t0004 | a0001c0001t0004g0300 a0001c0001t0004g0326 a0001c0001t0004g0332 others(11): Show |
20 | 486 | 0.0412 | -13 | c.*67 others(22): Show |
SELPLG | ENSG00000110876.10 | transcript | ENST00000550948.2 | protein_coding | 2/2 | 677 | chr12 | TogoVar | ||||||
SELPLG_chr12_108616895_108638894 | 108626997 | GGGAGGCC others(6): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0332 | 1 | 486 | 0.0021 | -13 | c.-5- others(28): Show |
SELPLG | ENSG00000110876.10 | transcript | ENST00000550948.2 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83965649 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0157 | 1 | 276 | 0.0036 | -13 | c.171 others(32): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83965651 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0186 | 1 | 276 | 0.0036 | -13 | c.171 others(32): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83965654 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0008 | a0001c0001t0007g0158 a0001c0003t0008g0068 |
2 | 276 | 0.0073 | -13 | c.171 others(32): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84091209 | AAAGAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0085 | 1 | 276 | 0.0036 | -13 | c.453 others(32): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84148016 | TCTCATGC others(6): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0211 | 1 | 276 | 0.0036 | -13 | c.113 others(32): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3B_chr3_50264147_50282546 | 50277546 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 390 | 0.0026 | -13 | c.*84 others(22): Show |
SEMA3B | ENSG00000012171.20 | transcript | ENST00000616701.5 | protein_coding | 1 | chr3 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80812961 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA19057.hp1 NA19087.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0109 a0002c0005t0001g0110 |
2 | 244 | 0.0082 | -13 | c.448 others(30): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 5/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80822403 | AAATAAAT others(6): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG04199.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0226 a0001c0002t0001g0025 |
2 | 244 | 0.0082 | -13 | c.328 others(30): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 4/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80851504 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 244 | 0.0041 | -13 | c.104 others(32): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80919564 | TTTTTTGT others(6): Show |
T | upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 244 | 0.0041 | -13 | c.-78 others(22): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 514 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83363860 | ATTTTTTT others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01928.hp1 HG01978.hp1 HG02148.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0072a0001c0003t0020a0001c0003t0048others(1): Show | a0001c0002t0072g0083 a0001c0003t0020g0075 a0001c0003t0020g0081 others(3): Show |
6 | 226 | 0.0266 | -13 | c.*37 others(24): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 17/17 | 3713 | chr7 | TogoVar | ||||||
SEMA3E_chr7_83358238_83654139 | 83434709 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0138 others(37): Show |
40 | 226 | 0.1770 | -13 | c.457 others(32): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83560724 | CCTTTAAA others(6): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG01891.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0024a0001c0001t0035a0001c0001t0037others(6): Show | a0001c0001t0024g0004 a0001c0001t0024g0005 a0001c0001t0035g0001 others(7): Show |
10 | 226 | 0.0443 | -13 | c.116 others(32): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83600486 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0008 | a0001c0008t0065 | a0001c0008t0065g0071 | 1 | 226 | 0.0044 | -13 | c.115 others(32): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83622268 | AACCATAA others(6): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00738.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0001t0017a0001c0001t0046others(25): Show | a0001c0001t0005g0032 a0001c0001t0017g0012 a0001c0001t0046g0034 others(32): Show |
35 | 226 | 0.1549 | -13 | c.115 others(32): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89427685 | GCCTACGG others(6): Show |
G | intron_variant | MODIFIER | HG01943.hp1 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 a0001c0003t0001g0011 |
2 | 370 | 0.0054 | -13 | c.-24 others(34): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89450660 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG02135.hp1 NA18612.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0046 a0001c0004t0004g0047 |
2 | 370 | 0.0054 | -13 | c.-24 others(32): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9131646 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01243.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0003 | a0001c0001t0011g0028 a0001c0003t0003g0031 |
2 | 134 | 0.0149 | -13 | c.159 others(32): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9355212 | CAGCTTGC others(6): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0047 | 1 | 134 | 0.0075 | -13 | c.125 others(32): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122920406 | CAAGCCAT others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02109.hp2 others(20): Show |
a0001a0004a0007others(2): Show | a0001c0004a0001c0005a0004c0026others(3): Show | a0001c0004t0006a0001c0004t0009a0001c0005t0003others(5): Show | a0001c0004t0006g0025 a0001c0004t0006g0048 a0001c0004t0006g0132 others(20): Show |
23 | 290 | 0.0793 | -13 | c.168 others(32): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 12/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122983716 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02738.hp1 HG03209.hp2 HG03654.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0033others(1): Show | a0001c0001t0001a0001c0005t0003a0001c0033t0001others(1): Show | a0001c0001t0001g0149 a0001c0005t0003g0179 a0001c0033t0001g0150 others(1): Show |
4 | 290 | 0.0138 | -13 | c.-38 others(32): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 123016680 | TCCTCCTG others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0155 | 1 | 290 | 0.0035 | -13 | c.-39 others(32): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116536866 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0281 | 1 | 304 | 0.0033 | -13 | c.-38 others(32): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6D_chr15_47712505_47779228 | 47720261 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(12): Show |
a0003a0005 | a0003c0005a0005c0012 | a0003c0005t0010a0003c0005t0033a0003c0005t0038others(3): Show | a0003c0005t0010g0040 a0003c0005t0010g0315 a0003c0005t0010g0319 others(12): Show |
15 | 388 | 0.0387 | -13 | c.-55 others(30): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SENP1_chr12_48037897_48111079 | 48071344 | GGTGGCTC others(6): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0284 a0001c0001t0005g0285 |
2 | 394 | 0.0051 | -13 | c.995 others(28): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 9/17 | chr12 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185607319 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 360 | 0.0028 | -13 | c.618 others(28): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185621386 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18940.hp1 NA18968.hp1 NA19056.hp1 |
a0001 | a0001c0003 | a0001c0003t0192a0001c0003t0217a0001c0003t0221 | a0001c0003t0192g0015 a0001c0003t0217g0014 a0001c0003t0221g0021 |
3 | 360 | 0.0083 | -13 | c.144 others(30): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185632213 | GTTTTTTT others(6): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0065a0001c0001t0066a0001c0001t0067others(3): Show | a0001c0001t0065g0128 a0001c0001t0066g0001 a0001c0001t0067g0001 others(3): Show |
6 | 360 | 0.0167 | -13 | c.*23 others(24): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 2393 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP2_chr3_185581295_185638551 | 185634589 | AATTCTGC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0151 | 1 | 360 | 0.0028 | -13 | c.*47 others(24): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1039 | chr3 | TogoVar |