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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SND1_chr7_127647194_128097593 | 128046341 | G | GT | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 others(3): Show |
6 | 262 | 0.0229 | 1 | c.178 others(22): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 16/23 | chr7 | TogoVar | |||||||
SND1_chr7_127647194_128097593 | 128046342 | G | GT | intron_variant | MODIFIER | HG02135.hp2 HG02280.hp2 HG02602.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0005others(1): Show | a0001c0001t0003a0001c0007t0003a0003c0005t0003others(1): Show | a0001c0001t0003g0180 a0001c0007t0003g0254 a0001c0007t0003g0255 others(2): Show |
5 | 262 | 0.0191 | 1 | c.178 others(11): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 128046365 | G | GT | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp1 HG01515.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 others(26): Show |
29 | 262 | 0.1107 | 1 | c.178 others(11): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 128088279 | T | TA | intron_variant | MODIFIER | HG01175.hp2 HG02080.hp2 HG02135.hp1 others(12): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0170 a0001c0001t0002g0034 a0001c0001t0002g0035 others(12): Show |
15 | 262 | 0.0573 | 1 | c.241 others(10): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 128088446 | C | CT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(48): Show |
51 | 262 | 0.1947 | 1 | c.241 others(10): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 128089580 | G | GC | frameshift_variant | HIGH | NA19083.hp2 | a0008 | a0008c0014 | a0008c0014t0003 | a0008c0014t0003g0131 | 1 | 262 | 0.0038 | 1 | c.251 others(5): Show |
p.His others(5): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 22/24 | 2696/3448 | 2516/2733 | 839/910 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
SND1_chr7_127647194_128097593 | 128091388 | A | AT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(26): Show |
29 | 262 | 0.1107 | 1 | c.262 others(9): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 128094763 | G | GC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(182): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(182): Show |
185 | 262 | 0.7061 | 1 | c.*27 others(12): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 2171 | chr7 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 240995083 | G | GT | upstream_gene_variant | MODIFIER | HG00738.hp2 HG03831.hp1 NA18950.hp2 others(4): Show |
a0001a0007a0026others(1): Show | a0001c0001a0001c0002a0007c0038others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0041others(4): Show | a0001c0001t0001g0163 a0001c0001t0005g0299 a0001c0002t0041g0181 others(4): Show |
7 | 344 | 0.0204 | 1 | c.-37 others(12): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 3534 | chr2 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 240996096 | G | GT | upstream_gene_variant | MODIFIER | HG01169.hp2 HG01433.hp1 HG01515.hp2 others(3): Show |
a0001a0002a0006 | a0001c0002a0002c0007a0002c0010others(1): Show | a0001c0002t0009a0002c0007t0004a0002c0007t0012others(2): Show | a0001c0002t0009g0178 a0001c0002t0009g0187 a0002c0007t0004g0192 others(3): Show |
6 | 344 | 0.0174 | 1 | c.-27 others(12): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 2521 | chr2 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 240998897 | C | CG | frameshift_variant | HIGH | HG01934.hp1 HG01993.hp1 HG03654.hp2 others(5): Show |
a0007 | a0007c0026a0007c0039a0007c0040others(4): Show | a0007c0026t0001a0007c0026t0002a0007c0039t0018others(5): Show | a0007c0026t0001g0267 a0007c0026t0002g0012 a0007c0039t0018g0159 others(5): Show |
8 | 344 | 0.0233 | 1 | c.64d others(3): Show |
p.Val others(4): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/32 | 285/8394 | 65/4242 | 22/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 240998900 | G | GT | frameshift_variant | HIGH | NA18989.hp1 NA18998.hp1 NA19063.hp1 |
a0007 | a0007c0038a0007c0099 | a0007c0038t0001a0007c0038t0005a0007c0099t0006 | a0007c0038t0001g0295 a0007c0038t0005g0200 a0007c0099t0006g0288 |
3 | 344 | 0.0087 | 1 | c.63_ others(6): Show |
p.Val others(4): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/32 | 284/8394 | 64/4242 | 22/1413 | chr2 | TogoVar | |||
SNED1_chr2_240993618_241100568 | 241004780 | T | TG | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG02922.hp2 others(3): Show |
a0002a0009a0010 | a0002c0009a0002c0017a0009c0077others(1): Show | a0002c0009t0004a0002c0017t0014a0002c0017t0026others(3): Show | a0002c0009t0004g0040 a0002c0017t0014g0041 a0002c0017t0026g0155 others(3): Show |
6 | 344 | 0.0174 | 1 | c.213 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241010219 | C | CT | intron_variant | MODIFIER | HG01243.hp1 HG02965.hp1 HG02970.hp1 others(1): Show |
a0002a0004a0010 | a0002c0007a0004c0025a0010c0016 | a0002c0007t0019a0004c0025t0004a0010c0016t0024others(1): Show | a0002c0007t0019g0227 a0004c0025t0004g0228 a0010c0016t0024g0225 others(1): Show |
4 | 344 | 0.0116 | 1 | c.213 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241012133 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01167.hp2 others(4): Show |
a0001a0002a0022 | a0001c0001a0001c0002a0001c0047others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0170 a0001c0001t0002g0156 a0001c0001t0005g0010 others(4): Show |
7 | 344 | 0.0204 | 1 | c.213 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241016188 | A | AT | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00738.hp2 others(47): Show |
a0001a0002a0006others(7): Show | a0001c0001a0001c0002a0001c0020others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(29): Show | a0001c0001t0001g0071 a0001c0001t0001g0166 a0001c0001t0001g0167 others(47): Show |
50 | 344 | 0.1454 | 1 | c.214 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241016850 | C | CT | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01081.hp2 others(18): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0006a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(10): Show | a0001c0001t0001g0245 a0001c0001t0002g0196 a0001c0001t0002g0197 others(18): Show |
21 | 344 | 0.0611 | 1 | c.214 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241023484 | T | TA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(127): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0006others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(85): Show | a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0170 others(127): Show |
130 | 344 | 0.3779 | 1 | c.214 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241023888 | C | CT | intron_variant | MODIFIER | HG00423.hp1 HG01516.hp1 HG03492.hp2 others(8): Show |
a0001a0007a0011others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0052others(5): Show | a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 others(8): Show |
11 | 344 | 0.0320 | 1 | c.214 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241024235 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(39): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0053others(27): Show | a0001c0001t0001g0067 a0001c0001t0001g0238 a0001c0001t0001g0303 others(39): Show |
42 | 344 | 0.1221 | 1 | c.214 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241024238 | T | TA | intron_variant | MODIFIER | HG02109.hp2 HG02976.hp1 NA20300.hp1 |
a0003a0008 | a0003c0076a0008c0032 | a0003c0076t0015a0008c0032t0021 | a0003c0076t0015g0330 a0008c0032t0021g0328 a0008c0032t0021g0329 |
3 | 344 | 0.0087 | 1 | c.214 others(18): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | chr2 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241024817 | G | GC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(164): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0006others(56): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(106): Show | a0001c0001t0001g0170 a0001c0001t0001g0189 a0001c0001t0002g0005 others(164): Show |
167 | 344 | 0.4855 | 1 | c.214 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241027084 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(90): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0006others(33): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(60): Show | a0001c0001t0001g0170 a0001c0001t0001g0189 a0001c0001t0005g0092 others(90): Show |
93 | 344 | 0.2704 | 1 | c.214 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241027097 | T | TA | intron_variant | MODIFIER | HG02080.hp1 NA18943.hp1 NA18947.hp1 others(1): Show |
a0002a0003a0004 | a0002c0003a0003c0031a0004c0025 | a0002c0003t0010a0002c0003t0013a0003c0031t0010others(1): Show | a0002c0003t0010g0218 a0002c0003t0013g0219 a0003c0031t0010g0286 others(1): Show |
4 | 344 | 0.0116 | 1 | c.214 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241027731 | C | CT | intron_variant | MODIFIER | HG02074.hp2 HG02280.hp1 NA18940.hp2 |
a0001a0006a0008 | a0001c0001a0006c0015a0008c0033 | a0001c0001t0001a0006c0015t0003a0008c0033t0030 | a0001c0001t0001g0189 a0006c0015t0003g0137 a0008c0033t0030g0335 |
3 | 344 | 0.0087 | 1 | c.214 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241033836 | C | CG | frameshift_variant | HIGH | HG00738.hp1 HG02145.hp2 NA18992.hp2 |
a0012 | a0012c0088a0012c0089a0012c0090 | a0012c0088t0007a0012c0089t0002a0012c0090t0001 | a0012c0088t0007g0017 a0012c0089t0002g0248 a0012c0090t0001g0334 |
3 | 344 | 0.0087 | 1 | c.608 others(4): Show |
p.Asn others(5): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 3/32 | 829/8394 | 609/4242 | 203/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241035485 | T | TG | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01099.hp1 others(1): Show |
a0006 | a0006c0012 | a0006c0012t0001a0006c0012t0005 | a0006c0012t0001g0001 a0006c0012t0001g0311 a0006c0012t0005g0309 |
4 | 344 | 0.0116 | 1 | c.805 others(8): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241035712 | C | CG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(4): Show |
a0001a0002a0008others(1): Show | a0001c0078a0002c0010a0002c0087others(2): Show | a0001c0078t0018a0002c0010t0014a0002c0010t0044others(3): Show | a0001c0078t0018g0320 a0002c0010t0014g0038 a0002c0010t0044g0078 others(4): Show |
7 | 344 | 0.0204 | 1 | c.805 others(8): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241036072 | T | TG | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(122): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0006others(44): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(76): Show | a0001c0001t0002g0252 a0001c0001t0002g0280 a0001c0001t0002g0297 others(121): Show |
125 | 344 | 0.3634 | 1 | c.806 others(8): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241038069 | A | AC | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01256.hp2 others(27): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(21): Show | a0001c0001t0001g0238 a0001c0001t0002g0005 a0001c0001t0009g0278 others(27): Show |
30 | 344 | 0.0872 | 1 | c.104 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 6/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241044314 | C | CT | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
a0010 | a0010c0016 | a0010c0016t0024a0010c0016t0056 | a0010c0016t0024g0042 a0010c0016t0024g0225 a0010c0016t0024g0338 others(1): Show |
4 | 344 | 0.0116 | 1 | c.127 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 8/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241045713 | C | CA | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp2 HG01099.hp2 others(74): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0006a0001c0020others(24): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(45): Show | a0001c0002t0001g0075 a0001c0002t0001g0171 a0001c0002t0001g0172 others(74): Show |
77 | 344 | 0.2238 | 1 | c.127 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 8/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241047146 | C | CA | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00609.hp1 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0006a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0067 a0001c0001t0002g0063 a0001c0001t0002g0142 others(14): Show |
17 | 344 | 0.0494 | 1 | c.127 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 8/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241050828 | A | AG | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(64): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0066others(18): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(36): Show | a0001c0001t0002g0252 a0001c0001t0002g0280 a0001c0001t0002g0297 others(64): Show |
67 | 344 | 0.1948 | 1 | c.173 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241052533 | A | AG | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(14): Show |
a0001a0002a0008others(1): Show | a0001c0006a0001c0078a0002c0010others(5): Show | a0001c0006t0001a0001c0078t0018a0002c0010t0014others(11): Show | a0001c0006t0001g0116 a0001c0078t0018g0320 a0002c0010t0014g0038 others(14): Show |
17 | 344 | 0.0494 | 1 | c.208 others(8): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241052690 | C | CG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(41): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0071 others(41): Show |
44 | 344 | 0.1279 | 1 | c.208 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241054141 | A | AG | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(255): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0006others(80): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(148): Show | a0001c0001t0002g0252 a0001c0001t0002g0280 a0001c0001t0002g0297 others(254): Show |
258 | 344 | 0.7500 | 1 | c.225 others(9): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241059632 | T | TA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp2 others(34): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0066a0002c0003others(7): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(16): Show | a0001c0001t0002g0252 a0001c0001t0002g0280 a0001c0001t0002g0297 others(34): Show |
37 | 344 | 0.1076 | 1 | c.225 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241060187 | C | CT | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01884.hp1 others(24): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0006a0001c0078others(10): Show | a0001c0001t0005a0001c0006t0001a0001c0006t0002others(17): Show | a0001c0001t0005g0299 a0001c0006t0001g0108 a0001c0006t0001g0116 others(24): Show |
27 | 344 | 0.0785 | 1 | c.225 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241060929 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp2 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0066a0002c0003others(6): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(15): Show | a0001c0001t0002g0252 a0001c0001t0002g0280 a0001c0001t0002g0297 others(32): Show |
35 | 344 | 0.1017 | 1 | c.225 others(10): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241064060 | A | AG | frameshift_variant | HIGH | NA18992.hp1 | a0028 | a0028c0083 | a0028c0083t0002 | a0028c0083t0002g0294 | 1 | 344 | 0.0029 | 1 | c.253 others(5): Show |
p.Ser others(5): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 19/32 | 2756/8394 | 2536/4242 | 846/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241064872 | T | TG | frameshift_variant | HIGH | NA18978.hp1 | a0027 | a0027c0048 | a0027c0048t0017 | a0027c0048t0017g0239 | 1 | 344 | 0.0029 | 1 | c.263 others(5): Show |
p.Arg others(5): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 20/32 | 2854/8394 | 2634/4242 | 878/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241064937 | C | CG | frameshift_variant | HIGH | NA18978.hp1 | a0027 | a0027c0048 | a0027c0048t0017 | a0027c0048t0017g0239 | 1 | 344 | 0.0029 | 1 | c.269 others(5): Show |
p.Glu others(5): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 20/32 | 2917/8394 | 2697/4242 | 899/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241067765 | A | AC | frameshift_variant | HIGH | HG02258.hp1 | a0023 | a0023c0054 | a0023c0054t0011 | a0023c0054t0011g0207 | 1 | 344 | 0.0029 | 1 | c.301 others(5): Show |
p.Arg others(6): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 22/32 | 3237/8394 | 3017/4242 | 1006/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241067920 | A | AC | frameshift_variant | HIGH | NA18978.hp1 | a0027 | a0027c0048 | a0027c0048t0017 | a0027c0048t0017g0239 | 1 | 344 | 0.0029 | 1 | c.316 others(5): Show |
p.Arg others(6): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 22/32 | 3389/8394 | 3169/4242 | 1057/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241068979 | A | AC | frameshift_variant | HIGH | NA18978.hp1 | a0027 | a0027c0048 | a0027c0048t0017 | a0027c0048t0017g0239 | 1 | 344 | 0.0029 | 1 | c.326 others(5): Show |
p.Thr others(6): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 23/32 | 3488/8394 | 3268/4242 | 1090/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241070117 | C | CG | frameshift_variant | HIGH | HG02897.hp1 HG03654.hp1 NA19067.hp1 others(1): Show |
a0011 | a0011c0055a0011c0057a0011c0068others(1): Show | a0011c0055t0003a0011c0057t0003a0011c0068t0004others(1): Show | a0011c0055t0003g0149 a0011c0057t0003g0230 a0011c0068t0004g0281 others(1): Show |
4 | 344 | 0.0116 | 1 | c.350 others(5): Show |
p.Tyr others(6): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 24/32 | 3728/8394 | 3508/4242 | 1170/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241071613 | A | AG | frameshift_variant | HIGH | HG02897.hp1 | a0011 | a0011c0057 | a0011c0057t0003 | a0011c0057t0003g0230 | 1 | 344 | 0.0029 | 1 | c.362 others(5): Show |
p.His others(6): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 25/32 | 3850/8394 | 3630/4242 | 1210/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241071692 | G | GC | frameshift_variant | HIGH | NA18972.hp2 | a0026 | a0026c0065 | a0026c0065t0010 | a0026c0065t0010g0264 | 1 | 344 | 0.0029 | 1 | c.371 others(5): Show |
p.Glu others(6): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 25/32 | 3932/8394 | 3712/4242 | 1238/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNED1_chr2_240993618_241100568 | 241071701 | A | AC | frameshift_variant | HIGH | NA18972.hp2 | a0026 | a0026c0065 | a0026c0065t0010 | a0026c0065t0010g0264 | 1 | 344 | 0.0029 | 1 | c.372 others(5): Show |
p.Thr others(6): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 25/32 | 3941/8394 | 3721/4242 | 1241/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |