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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYNE2_chr14_63848004_64231433 | 64014647 | TCGAACTC others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG03041.hp2 others(2): Show |
a0010a0039a0061 | a0010c0006a0039c0075a0061c0033 | a0010c0006t0006a0039c0075t0001a0061c0033t0003 | a0010c0006t0006g0037 a0010c0006t0006g0039 a0010c0006t0006g0058 others(2): Show |
5 | 150 | 0.0333 | -12 | c.472 others(31): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 32/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64014929 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00741.hp2 others(20): Show |
a0001a0002a0006others(8): Show | a0001c0005a0001c0009a0002c0001others(12): Show | a0001c0005t0001a0001c0005t0009a0001c0009t0003others(14): Show | a0001c0005t0001g0110 a0001c0005t0009g0062 a0001c0009t0003g0112 others(20): Show |
23 | 150 | 0.1533 | -12 | c.472 others(31): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 32/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64068861 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0048 | a0048c0091 | a0048c0091t0001 | a0048c0091t0001g0016 | 1 | 150 | 0.0067 | -12 | c.104 others(33): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 51/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100523 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 |
a0006a0026 | a0006c0010a0026c0037 | a0006c0010t0004a0026c0037t0001 | a0006c0010t0004g0079 a0026c0037t0001g0013 |
2 | 150 | 0.0133 | -12 | c.123 others(33): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100525 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0015 | a0015c0016 | a0015c0016t0001 | a0015c0016t0001g0149 | 1 | 150 | 0.0067 | -12 | c.123 others(33): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100527 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02897.hp1 |
a0041a0045 | a0041c0039a0045c0084 | a0041c0039t0004a0045c0084t0007 | a0041c0039t0004g0067 a0045c0084t0007g0057 |
2 | 150 | 0.0133 | -12 | c.123 others(33): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100529 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0052 | a0052c0040 | a0052c0040t0007 | a0052c0040t0007g0150 | 1 | 150 | 0.0067 | -12 | c.123 others(33): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64150291 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0057 | a0057c0066 | a0057c0066t0004 | a0057c0066t0004g0076 | 1 | 150 | 0.0067 | -12 | c.156 others(33): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 84/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64151420 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02922.hp2 NA20129.hp2 |
a0001a0019a0030 | a0001c0004a0019c0031a0030c0064 | a0001c0004t0003a0019c0031t0004a0030c0064t0003 | a0001c0004t0003g0132 a0019c0031t0004g0102 a0030c0064t0003g0106 |
3 | 150 | 0.0200 | -12 | c.156 others(33): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 84/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64176779 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02083.hp1 HG02145.hp1 HG02717.hp2 others(4): Show |
a0002a0010a0018others(2): Show | a0002c0068a0010c0006a0018c0095others(2): Show | a0002c0068t0002a0010c0006t0006a0018c0095t0001others(2): Show | a0002c0068t0002g0140 a0010c0006t0006g0037 a0010c0006t0006g0039 others(4): Show |
7 | 150 | 0.0467 | -12 | c.174 others(31): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 95/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64191167 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 | a0027 | a0027c0056 | a0027c0056t0001 | a0027c0056t0001g0136 | 1 | 150 | 0.0067 | -12 | c.180 others(31): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 99/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95414686 | GACACACA others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
a0001a0006a0007others(1): Show | a0001c0001a0006c0025a0007c0033others(1): Show | a0001c0001t0045a0001c0001t0150a0001c0001t0151others(3): Show | a0001c0001t0045g0298 a0001c0001t0045g0299 a0001c0001t0150g0087 others(5): Show |
8 | 384 | 0.0208 | -12 | c.*31 others(23): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 18/18 | 3128 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95432633 | CTATTATT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02630.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0022a0001c0062a0001c0063others(8): Show | a0001c0022t0029a0001c0022t0163a0001c0062t0211others(11): Show | a0001c0022t0029g0040 a0001c0022t0029g0189 a0001c0022t0163g0191 others(12): Show |
15 | 384 | 0.0391 | -12 | c.268 others(29): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 16/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95453155 | GCTGTTTC others(5): Show |
G | intron_variant | MODIFIER | NA18943.hp2 | a0003 | a0003c0073 | a0003c0073t0002 | a0003c0073t0002g0020 | 1 | 384 | 0.0026 | -12 | c.113 others(29): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95469876 | TTGATGAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0007a0003c0004others(4): Show | a0001c0001t0047a0001c0001t0189a0002c0007t0002others(8): Show | a0001c0001t0047g0279 a0001c0001t0189g0373 a0002c0007t0002g0294 others(8): Show |
11 | 384 | 0.0287 | -12 | c.145 others(29): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95513737 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | NA18960.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0092 | 1 | 384 | 0.0026 | -12 | c.-15 others(29): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95520965 | GTGTGTAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 NA18969.hp2 NA18988.hp1 others(4): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0007a0003c0006others(2): Show | a0002c0002t0046a0002c0007t0009a0002c0007t0032others(4): Show | a0002c0002t0046g0287 a0002c0007t0009g0288 a0002c0007t0032g0259 others(4): Show |
7 | 384 | 0.0182 | -12 | c.-43 others(23): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 4316 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95520967 | GTGTATAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(90): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0011a0001c0018others(31): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(78): Show | a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0007g0277 others(88): Show |
93 | 384 | 0.2422 | -12 | c.-43 others(23): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 4318 | chr14 | TogoVar | |||||||
SYNGR1_chr22_39344991_39390575 | 39359630 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0022 | a0002c0002t0002g0267 a0002c0002t0022g0268 |
2 | 300 | 0.0067 | -12 | c.99+ others(27): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SYNGR1_chr22_39344991_39390575 | 39372438 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0275 | 1 | 300 | 0.0033 | -12 | c.100 others(29): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SYNGR2_chr17_78163581_78177720 | 78166492 | GCGAAAAG others(5): Show |
G | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 450 | 0.0022 | -12 | c.-21 others(23): Show |
SYNGR2 | ENSG00000108639.8 | transcript | ENST00000225777.8 | protein_coding | 2088 | chr17 | TogoVar | |||||||
SYNGR2_chr17_78163581_78177720 | 78167384 | TTTTGTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02976.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 5 | 450 | 0.0111 | -12 | c.-12 others(23): Show |
SYNGR2 | ENSG00000108639.8 | transcript | ENST00000225777.8 | protein_coding | 1196 | chr17 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32668009 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02818.hp2 HG03688.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0003 | a0002c0002t0001g0222 a0002c0002t0001g0229 a0003c0003t0003g0150 |
3 | 346 | 0.0087 | -12 | c.181 others(31): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 15/32 | chr21 | TogoVar | |||||||
SYNJ1_chr21_32623763_32733013 | 32695633 | ATATTTAT others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0005 | 2 | 346 | 0.0058 | -12 | c.480 others(27): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 4/32 | chr21 | TogoVar | |||||||
SYNJ2_chr6_157976863_158104176 | 157989427 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 |
a0001 | a0001c0011a0001c0053 | a0001c0011t0001a0001c0053t0010 | a0001c0011t0001g0247 a0001c0053t0010g0271 |
2 | 312 | 0.0064 | -12 | c.127 others(29): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158000064 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02647.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0011a0001c0029others(6): Show | a0001c0001t0002a0001c0011t0001a0001c0029t0001others(6): Show | a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0170 others(9): Show |
12 | 312 | 0.0385 | -12 | c.128 others(31): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158047774 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0129 | 1 | 312 | 0.0032 | -12 | c.795 others(29): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158077650 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03041.hp2 HG03516.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0010a0003c0009others(2): Show | a0001c0001t0001a0001c0001t0014a0002c0010t0019others(3): Show | a0001c0001t0001g0084 a0001c0001t0014g0274 a0001c0001t0014g0275 others(5): Show |
8 | 312 | 0.0256 | -12 | c.245 others(29): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158088034 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01175.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(2): Show | a0001c0001t0001g0190 a0001c0001t0002g0042 a0001c0001t0002g0131 others(3): Show |
6 | 312 | 0.0192 | -12 | c.334 others(29): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99107957 | TTTTTGGT others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02615.hp2 others(6): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0019a0006c0058others(4): Show | a0001c0001t0001a0002c0019t0011a0006c0058t0008others(4): Show | a0001c0001t0001g0171 a0002c0019t0011g0046 a0006c0058t0008g0172 others(5): Show |
9 | 420 | 0.0214 | -12 | c.810 others(29): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SYNPO2L_chr10_73639886_73661029 | 73658808 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 382 | 0.0026 | -12 | c.-28 others(23): Show |
SYNPO2L | ENSG00000166317.12 | transcript | ENST00000394810.3 | protein_coding | 2780 | chr10 | TogoVar | |||||||
SYNPO2_chr4_118883854_119066247 | 118887166 | AGTGTGTG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01978.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0008 | a0001c0001t0005a0001c0005t0001a0001c0005t0002others(2): Show | a0001c0001t0005g0018 a0001c0005t0001g0014 a0001c0005t0002g0023 others(2): Show |
5 | 310 | 0.0161 | -12 | c.-18 others(23): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1687 | chr4 | TogoVar | |||||||
SYNPO2_chr4_118883854_119066247 | 118900663 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG01256.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0037others(8): Show | a0001c0001t0001g0078 a0001c0001t0001g0156 a0001c0001t0002g0157 others(9): Show |
12 | 310 | 0.0387 | -12 | c.105 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900693 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | NA18957.hp1 NA19070.hp2 |
a0002a0003 | a0002c0003a0003c0002 | a0002c0003t0003a0003c0002t0002 | a0002c0003t0003g0062 a0003c0002t0002g0052 |
2 | 310 | 0.0065 | -12 | c.105 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900695 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp2 NA18939.hp2 |
a0002a0003 | a0002c0004a0003c0002 | a0002c0004t0004a0003c0002t0002 | a0002c0004t0004g0086 a0003c0002t0002g0088 |
2 | 310 | 0.0065 | -12 | c.105 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900697 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01346.hp2 HG02027.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0002c0003t0003a0002c0004t0001others(3): Show | a0001c0001t0001g0096 a0002c0003t0003g0099 a0002c0004t0001g0076 others(3): Show |
6 | 310 | 0.0194 | -12 | c.105 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900699 | CTCTCTAT others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02015.hp2 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0004a0003c0002a0004c0040others(1): Show | a0002c0004t0001a0003c0002t0006a0004c0040t0011others(1): Show | a0002c0004t0001g0082 a0003c0002t0006g0072 a0003c0002t0006g0077 others(2): Show |
5 | 310 | 0.0161 | -12 | c.105 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900741 | GTCTATCT others(5): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0006 | 1 | 310 | 0.0032 | -12 | c.105 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118927697 | GAGATAGA others(5): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03540.hp1 |
a0002a0004 | a0002c0004a0004c0010 | a0002c0004t0007a0004c0010t0011 | a0002c0004t0007g0251 a0004c0010t0011g0010 |
2 | 310 | 0.0065 | -12 | c.105 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118964297 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(116): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0002c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0141 others(116): Show |
119 | 310 | 0.3839 | -12 | c.106 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118999600 | CATGTATT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00733.hp1 others(10): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0002a0004c0011others(3): Show | a0001c0001t0001a0003c0002t0002a0003c0002t0006others(5): Show | a0001c0001t0001g0066 a0001c0001t0001g0096 a0001c0001t0001g0114 others(10): Show |
13 | 310 | 0.0419 | -12 | c.106 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119007234 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02027.hp2 NA18948.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0022a0002c0004t0001 | a0002c0003t0022g0140 a0002c0004t0001g0076 a0002c0004t0001g0082 |
3 | 310 | 0.0097 | -12 | c.106 others(31): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119058076 | CTGTGTGT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01168.hp1 others(15): Show |
a0002a0003a0004others(3): Show | a0002c0003a0003c0002a0004c0016others(3): Show | a0002c0003t0019a0002c0003t0044a0002c0003t0045others(5): Show | a0002c0003t0019g0047 a0002c0003t0019g0267 a0002c0003t0044g0308 others(15): Show |
18 | 310 | 0.0581 | -12 | c.*15 others(21): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 5/5 | 152 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SYNPO2_chr4_118883854_119066247 | 119058464 | CTTTTTTT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00639.hp2 others(86): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0002c0003others(19): Show | a0001c0001t0003a0001c0001t0005a0001c0005t0053others(37): Show | a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0225 others(86): Show |
89 | 310 | 0.2871 | -12 | c.*54 others(21): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 5/5 | 545 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SYNPO_chr5_150635660_150664207 | 150656742 | ACCGCCCC others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG01884.hp2 HG01981.hp1 others(20): Show |
a0002a0018 | a0002c0004a0002c0005a0002c0023others(1): Show | a0002c0004t0002a0002c0004t0009a0002c0004t0019others(8): Show | a0002c0004t0002g0021 a0002c0004t0009g0021 a0002c0004t0019g0005 others(10): Show |
23 | 390 | 0.0590 | -12 | c.239 others(21): Show |
p.Pro others(13): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 3/3 | 2917/5359 | 2390/2712 | 797/903 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SYNPO_chr5_150635660_150664207 | 150657432 | TCACACAC others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01123.hp2 HG02615.hp2 HG03209.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0013 | a0001c0001t0031a0001c0001t0065a0003c0013t0031 | a0001c0001t0031g0042 a0001c0001t0031g0149 a0001c0001t0065g0002 others(1): Show |
4 | 390 | 0.0103 | -12 | c.*37 others(21): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 3/3 | 379 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63313734 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 a0001c0001t0003g0219 |
2 | 246 | 0.0081 | -12 | c.84+ others(29): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63334515 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 others(31): Show |
34 | 246 | 0.1382 | -12 | c.84+ others(29): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63336519 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0097 a0001c0001t0001g0145 a0001c0001t0001g0164 others(17): Show |
20 | 246 | 0.0813 | -12 | c.84+ others(29): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63347875 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG02486.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0003g0218 others(13): Show |
16 | 246 | 0.0650 | -12 | c.84+ others(29): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |