regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STXBP5L_chr3_120903205_121429761 | 121190715 | G | GGGCGGGG others(35): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0038others(32): Show | 35 | 290 | 0.1207 | 42 | c.878 others(61): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STYXL2_chr1_167089075_167134165 | 167105102 | C | CTCCCTTT others(35): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp2 HG02257.hp2 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0003a0003c0003t0002others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0064a0001c0001t0001g0068others(16): Show | 25 | 362 | 0.0691 | 42 | c.111 others(59): Show |
STYXL2 | ENSG00000198842.10 | transcript | ENST00000361200.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SUB1_chr5_32580557_32609079 | 32596580 | A | AGAGATTT others(35): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 446 | 0.0022 | 42 | c.196 others(59): Show |
SUB1 | ENSG00000113387.12 | transcript | ENST00000265073.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SUB1_chr5_32580557_32609079 | 32598252 | T | TGGAGGGA others(35): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 446 | 0.0022 | 42 | c.196 others(57): Show |
SUB1 | ENSG00000113387.12 | transcript | ENST00000265073.9 | protein_coding | 3/4 | chr5 | TogoVar | ||||||
SUGT1_chr13_52647836_52705909 | 52701790 | T | TACACACA others(35): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 | 1 | 310 | 0.0032 | 42 | c.*13 others(55): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 882 | chr13 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47662852 | C | CGCAGGGT others(35): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp1 HG01167.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0033others(2): Show | a0001c0001t0004a0001c0001t0021a0001c0002t0001others(8): Show | a0001c0001t0004g0157a0001c0001t0021g0069a0001c0002t0001g0024others(9): Show | 12 | 364 | 0.0330 | 42 | c.237 others(59): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 17/20 | chr20 | TogoVar | ||||||
SUMF1_chr3_4356146_4472269 | 4456706 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0360 | 1 | 392 | 0.0026 | 42 | c.271 others(59): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
SUMF1_chr3_4356146_4472269 | 4457038 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0078 | 1 | 392 | 0.0026 | 42 | c.271 others(59): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
SUN5_chr20_32978775_33009433 | 33001519 | C | CTTTCTTT others(35): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0277a0002c0002t0001g0078 | 2 | 382 | 0.0052 | 42 | c.212 others(57): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
SUN5_chr20_32978775_33009433 | 33001544 | T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 382 | 0.0026 | 42 | c.212 others(57): Show |
SUN5 | ENSG00000167098.12 | transcript | ENST00000356173.8 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
SUPT20HL1_chrX_24355639_24372839 | 24360488 | C | CACACACA others(35): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0000 | 1 | 316 | 0.0032 | 42 | c.-22 others(53): Show |
SUPT20HL1 | ENSG00000223731.4 | transcript | ENST00000686983.1 | protein_coding | 150 | chrX | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45230660 | G | GCATATAT others(35): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18948.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0175a0001c0001t0004g0177a0001c0001t0007g0190 | 3 | 262 | 0.0115 | 42 | c.102 others(63): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45230660 | G | GCCTATAT others(35): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 262 | 0.0038 | 42 | c.102 others(63): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT5H_chr19_39440582_39481670 | 39449076 | C | CGAGACTC others(35): Show |
intron_variant | MODIFIER | NA18986.hp2 NA18992.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0249 | 3 | 378 | 0.0079 | 42 | c.75+ others(57): Show |
SUPT5H | ENSG00000196235.14 | transcript | ENST00000432763.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SUPT6H_chr17_28657205_28707679 | 28663828 | A | ATTTTTTT others(35): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0194 | 1 | 236 | 0.0042 | 42 | c.-32 others(59): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SVEP1_chr9_110360248_110584741 | 110392133 | T | TTTTATAT others(35): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0242 | 1 | 362 | 0.0028 | 42 | c.982 others(61): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138629127 | A | ATATGTGT others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 360 | 0.0028 | 42 | c.864 others(57): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 10/15 | chr7 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10962272 | A | ACCTATGC others(35): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0163 | 1 | 354 | 0.0028 | 42 | c.241 others(59): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18968.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 426 | 0.0070 | 42 | c.236 others(57): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 426 | 0.0024 | 42 | c.236 others(57): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0094 | 2 | 426 | 0.0047 | 42 | c.236 others(57): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32503782 | C | CCAATCGC others(35): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0036 | a0001c0004t0036g0010 | 1 | 184 | 0.0054 | 42 | c.*99 others(53): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 4037 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32503824 | A | ACAATCGC others(35): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(42): Show | a0001c0001t0002g0014a0001c0001t0002g0018a0001c0001t0002g0024others(81): Show | 84 | 184 | 0.4565 | 42 | c.*98 others(53): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3995 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32503824 | A | ACAATCGC others(35): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG02055.hp1 HG02559.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0020a0001c0001t0024a0001c0001t0031others(12): Show | a0001c0001t0020g0022a0001c0001t0020g0156a0001c0001t0024g0065others(15): Show | 18 | 184 | 0.0978 | 42 | c.*98 others(53): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3995 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32503839 | C | CACGCCCC others(35): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012a0001c0001t0006g0046a0001c0001t0006g0073others(2): Show | 5 | 184 | 0.0272 | 42 | c.*98 others(53): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3980 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32758681 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0086a0001c0001t0002g0123a0001c0001t0002g0174others(12): Show | 15 | 184 | 0.0815 | 42 | c.711 others(63): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 33028655 | G | GTGGTGGT others(35): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0080 | 1 | 184 | 0.0054 | 42 | c.-16 others(63): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | ||||||
SYNCRIP_chr6_85608976_85647886 | 85643855 | T | TGGGGGGG others(35): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 364 | 0.0028 | 42 | c.-10 others(53): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 970 | chr6 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95473903 | T | TGGTGTGA others(35): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18747.hp1 NA18960.hp1 |
a0004 | a0004c0003a0004c0005 | a0004c0003t0001a0004c0005t0015 | a0004c0003t0001g0092a0004c0003t0001g0267a0004c0005t0015g0094 | 3 | 384 | 0.0078 | 42 | c.144 others(59): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0004 | a0004c0021 | a0004c0021t0005 | a0004c0021t0005g0048 | 1 | 420 | 0.0024 | 42 | c.-64 others(51): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 | a0003 | a0003c0003 | a0003c0003t0025 | a0003c0003t0025g0004 | 1 | 420 | 0.0024 | 42 | c.-64 others(51): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02809.hp2 NA19054.hp2 others(1): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0003a0004c0004t0005 | a0003c0003t0003g0033a0004c0004t0005g0021a0004c0004t0005g0022others(1): Show | 4 | 420 | 0.0095 | 42 | c.-64 others(51): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0081 | 1 | 420 | 0.0024 | 42 | c.-64 others(51): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0191 | 1 | 420 | 0.0024 | 42 | c.-64 others(51): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0034 | a0034c0047 | a0034c0047t0002 | a0034c0047t0002g0003 | 1 | 420 | 0.0024 | 42 | c.-64 others(51): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63313680 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 246 | 0.0041 | 42 | c.84+ others(59): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63313990 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 246 | 0.0041 | 42 | c.84+ others(59): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63408308 | G | GAAAGAAA others(35): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 246 | 0.0041 | 42 | c.85- others(59): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63408312 | G | GAAAGAAA others(35): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0229 | 1 | 246 | 0.0041 | 42 | c.85- others(59): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63494421 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0180 | 1 | 246 | 0.0041 | 42 | c.209 others(61): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63494448 | C | CACATATA others(35): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 246 | 0.0041 | 42 | c.209 others(61): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYT14_chr1_209933217_210176315 | 210071264 | G | GTAAGTAG others(35): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0348 | 1 | 358 | 0.0028 | 42 | c.443 others(61): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYT2_chr1_202585596_202715454 | 202691722 | G | GGGGAGAG others(35): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 276 | 0.0036 | 42 | c.-18 others(61): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
SYT5_chr19_55166196_55185289 | 55168406 | T | TATATATA others(35): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0019 | 1 | 410 | 0.0024 | 42 | c.*50 others(53): Show |
SYT5 | ENSG00000129990.15 | transcript | ENST00000354308.8 | protein_coding | 2789 | chr19 | TogoVar | ||||||
SYT6_chr1_114084292_114158869 | 114149220 | T | TGTGTGTG others(35): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 426 | 0.0024 | 42 | c.163 others(59): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
SYT6_chr1_114084292_114158869 | 114149220 | T | TGTGTGTG others(35): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 | 1 | 426 | 0.0024 | 42 | c.163 others(59): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
SYTL5_chrX_38001553_38133816 | 38043674 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 250 | 0.0040 | 42 | c.119 others(59): Show |
SYTL5 | ENSG00000147041.12 | transcript | ENST00000297875.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SZT2_chr1_43384899_43459247 | 43423479 | T | TGAGGTGT others(35): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(57): Show |
a0001a0003a0019 | a0001c0001a0001c0017a0001c0028others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0019others(8): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0012others(50): Show | 60 | 290 | 0.2069 | 42 | c.225 others(59): Show |
SZT2 | ENSG00000198198.17 | transcript | ENST00000634258.3 | protein_coding | 15/71 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SZT2_chr1_43384899_43459247 | 43423521 | G | GGAGGTGT others(35): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02109.hp1 others(6): Show |
a0001a0004a0012 | a0001c0001a0004c0003a0012c0022 | a0001c0001t0035a0004c0003t0003a0012c0022t0006 | a0001c0001t0035g0034a0004c0003t0003g0019a0004c0003t0003g0234others(5): Show | 9 | 290 | 0.0310 | 42 | c.225 others(59): Show |
SZT2 | ENSG00000198198.17 | transcript | ENST00000634258.3 | protein_coding | 15/71 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TACR1_chr2_75041463_75204520 | 75094859 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 282 | 0.0036 | 42 | c.584 others(61): Show |
TACR1 | ENSG00000115353.11 | transcript | ENST00000305249.10 | protein_coding | 2/4 | chr2 | TogoVar |