Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SUGCT_chr7_40130005_40865763	40322973	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03139.hp2 HG00738.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0003t0001g0005 a0001c0001t0001g0004 a0001c0003t0001g0005	2	8	0.2500	25	c.816 others(42): Show c.816+6140_816+6141insATAAAATAAAATAAAATAAAATAAA	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGCT_chr7_40130005_40865763	40496736	T T	TACCTCTG others(18): Show TACCTCTGATCATATGATTATCTTAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp1 HG03139.hp1 others(1): Show HG01069.hp2 HG01192.hp1 HG03139.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0003t0001g0005	4	8	0.5000	25	c.108 others(42): Show c.1089+371_1089+395dupCTTAAACCTCTGATCATATGATTAT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SULF2_chr20_47652406_47790481	47731182	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02809.hp2 HG02886.hp1 others(1): Show HG01358.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0197 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0026g0214	4	364	0.0110	25	c.415 others(42): Show c.415+5520_415+5521insAAAAAAAAAAAAAAAAAAAAAAAAA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745398	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0274 a0001c0002t0017g0274	1	364	0.0028	25	c.176 others(42): Show c.176-8457_176-8456insATATATATATATATATATATATATA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(18): Show CTTTTCTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01099.hp1 others(4): Show HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01256.hp1 HG03669.hp1 HG03704.hp2 NA20905.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0001 a0001c0005t0001 a0001c0007t0001	a0001c0005t0001g0108 a0001c0005t0001g0173 a0001c0005t0001g0197 others(4): Show a0001c0005t0001g0108 a0001c0005t0001g0173 a0001c0005t0001g0197 a0001c0005t0001g0236 a0001c0005t0001g0313 a0001c0005t0001g0349 a0001c0007t0001g0110	7	376	0.0186	25	c.214 others(40): Show c.214+280_214+281insCTTTCTTTTTTTTTTTTTTTTTTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG00741.hp2 others(32): Show HG00544.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01943.hp2 HG01993.hp2 HG02280.hp1 HG02300.hp2 HG02622.hp1 HG02738.hp1 HG03195.hp1 HG03540.hp2 HG04115.hp2 NA18522.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp1 NA18998.hp1 NA19012.hp1 NA19043.hp2 NA19066.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0069 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0266 a0001c0001t0001g0271 a0002c0002t0001g0010 a0002c0002t0001g0044 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0281 a0003c0003t0001g0278 a0003c0003t0001g0279	35	382	0.0916	25	c.212 others(40): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAGAAAGAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	422	0.0024	25	c.-14 others(36): Show c.-1456_-1455insTATATATATATTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT3H_chr6_44821726_45382934	45120417	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02717.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG02717.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0017 a0001c0001t0004 a0001c0006t0017	a0001c0001t0004g0175 a0001c0001t0004g0186 a0001c0001t0004g0187 others(1): Show a0001c0001t0004g0175 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0006t0017g0099	4	262	0.0153	25	c.102 others(44): Show c.102-14412_102-14411insTTTTTTTTTTTTTTTTTTTTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45158298	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	262	0.0038	25	c.102 others(44): Show c.102-52293_102-52292insAAAAATATATATATATATATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03486.hp2 HG00140.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0134 a0001c0001t0002g0135	2	236	0.0085	25	c.-32 others(42): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUSD5_chr3_33145043_33223810	33183930	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18906.hp1 NA19030.hp1 HG00642.hp2 NA18906.hp1 NA19030.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0004 a0003c0003 a0007c0009 a0002c0004 a0003c0003 a0007c0009	a0002c0004t0006 a0003c0003t0004 a0007c0009t0008 a0002c0004t0006 a0003c0003t0004 a0007c0009t0008	a0002c0004t0006g0063 a0003c0003t0004g0153 a0007c0009t0008g0094 a0002c0004t0006g0063 a0003c0003t0004g0153 a0007c0009t0008g0094	3	404	0.0074	25	c.410 others(42): Show c.410-8881_410-8857dupAAAAAAAAAAAAAAAAAAAAAAAAA	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4			chr3	TogoVar
SUSD5_chr3_33145043_33223810	33213773	C C	CAAACAAA others(18): Show CAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0378 a0001c0001t0003g0379 a0001c0001t0003g0378 a0001c0001t0003g0379	2	404	0.0050	25	c.290 others(40): Show c.290+130_290+154dupTGTTTTGTTTTGTTTTGTTTTGTTT	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	2/4			chr3	TogoVar
SV2B_chr15_91095257_91307565	91099104	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0073 a0001c0010t0073	a0001c0010t0073g0204 a0001c0010t0073g0204	1	214	0.0047	25	c.-16 others(36): Show c.-1651_-1650insAAAAAAAAAAAAAAAAAAAAATAAT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding		1152		chr15	TogoVar
SV2B_chr15_91095257_91307565	91125781	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0160 a0001c0017t0001g0160	1	214	0.0047	25	c.-39 others(46): Show c.-392+25437_-392+25438insAAAAAAAAAAAAAAAAAAAAAAAA A	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SVEP1_chr9_110360248_110584741	110572789	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0019 a0019	a0019c0015 a0019c0015	a0019c0015t0003 a0019c0015t0003	a0019c0015t0003g0179 a0019c0015t0003g0179	1	362	0.0028	25	c.531 others(42): Show c.531+6199_531+6223dupTTTTTTTTTTTTTTTTTTTTTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	1/47			chr9	TogoVar
SVIP_chr11_22813927_22834801	22831605	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGGGGAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	430	0.0023	25	c.-18 others(36): Show c.-1858_-1857insCCTCCCCTCCCCTCCCCTCCCCTCC	SVIP	ENSG00000198168.9	transcript	ENST00000354193.5	protein_coding		1805		chr11	TogoVar
SVOPL_chr7_138589285_138706362	138642831	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0298 a0001c0001t0010g0298	1	360	0.0028	25	c.789 others(42): Show c.789+1885_789+1886insTTTTTTTTTTTTTTTTTTTTTTTTT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	9/15			chr7	TogoVar
SWAP70_chr11_9659077_9757993	9671743	G G	GAAATATA others(18): Show GAAATATAAATATAAAATATATTTAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01169.hp1 others(3): Show HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG04199.hp2	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0001 a0002c0004t0001 a0002c0001t0001 a0002c0004t0001	a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0285 others(3): Show a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0285 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0004t0001g0282	6	294	0.0204	25	c.99+ others(40): Show c.99+7478_99+7479insAAATATATTTATAAATATAAATATA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYBU_chr8_109568978_109649822	109645626	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03195.hp1 HG02486.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0152 a0001c0001t0001g0156	2	324	0.0062	25	c.-96 others(34): Show c.-968_-967insAAAAAAAAAAAAAAAAAAAAAAAAA	SYBU	ENSG00000147642.17	transcript	ENST00000276646.14	protein_coding		805		chr8	TogoVar
SYCE1L_chr16_77194408_77218215	77205449	T T	TATGTATA others(18): Show TATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0115 a0002c0003t0001g0115	1	442	0.0023	25	c.62- others(38): Show c.62-992_62-991insATGTATATATATATATATATATATG	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding	1/10			chr16	TogoVar
SYCP1_chr1_114849863_115000370	114857136	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp2 NA19030.hp1 HG02451.hp1 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0064 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0064	3	312	0.0096	25	c.194 others(38): Show c.194-75_194-74insAAAAAAAAAAAAAAAAAAAAAAAAA	SYCP1	ENSG00000198765.12	transcript	ENST00000369522.8	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYCP2L_chr6_10882052_10979309	10978305	A A	ATATATAT others(18): Show ATATATATATATATATAATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0023 a0003c0006t0001g0023	1	354	0.0028	25	c.43 others(36): Show c.4391_*4392insTATATATATATATATAATTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding		3997		chr6	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18973.hp1 NA18957.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0209 a0001c0001t0001g0146 a0001c0001t0001g0209	2	426	0.0047	25	c.236 others(40): Show c.236-828_236-827insAAAAAAAAATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02723.hp2 NA18971.hp2 others(7): Show HG02523.hp2 HG02723.hp2 NA18971.hp2 NA18979.hp1 NA18986.hp1 NA18998.hp2 NA19004.hp1 NA19063.hp2 NA19070.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0034	10	426	0.0235	25	c.236 others(40): Show c.236-828_236-827insAAAAAAAAAAATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18943.hp1 NA18943.hp2 others(1): Show HG00609.hp1 NA18943.hp1 NA18943.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0127 a0001c0001t0001g0188 a0001c0001t0001g0030 a0001c0001t0001g0127 a0001c0001t0001g0188	4	426	0.0094	25	c.236 others(40): Show c.236-828_236-827insAAAAAAAAAAAAATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYN3_chr22_32502820_33063381	32747305	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG02559.hp2 others(5): Show HG00323.hp1 HG01109.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG03017.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0079 a0001c0006t0007 a0002c0002t0004 a0002c0002t0055	a0001c0001t0002g0118 a0001c0001t0005g0158 a0001c0001t0010g0165 others(5): Show a0001c0001t0002g0118 a0001c0001t0005g0158 a0001c0001t0010g0165 a0001c0001t0016g0062 a0001c0001t0079g0004 a0001c0006t0007g0074 a0002c0002t0004g0167 a0002c0002t0055g0063	8	184	0.0435	25	c.711 others(46): Show c.711+117609_711+117610insGTTTTGTTTTGTTTTGTTTTGTTT T	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32747314	A A	ACAAAACA others(18): Show ACAAAACAAAACAAAACAAAACAAAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0146 a0001c0001t0018g0146	1	184	0.0054	25	c.711 others(46): Show c.711+117600_711+117601insATTTGTTTTGTTTTGTTTTGTTTT G	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32899101	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02074.hp1 HG02818.hp2 others(6): Show HG01496.hp1 HG02074.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0047 a0001c0001t0063 a0002c0002t0005 a0002c0002t0048	a0001c0001t0001g0114 a0001c0001t0009g0090 a0001c0001t0010g0094 others(6): Show a0001c0001t0001g0114 a0001c0001t0009g0090 a0001c0001t0010g0094 a0001c0001t0014g0060 a0001c0001t0019g0092 a0001c0001t0047g0091 a0001c0001t0063g0093 a0002c0002t0005g0089 a0002c0002t0048g0084	9	184	0.0489	25	c.462 others(44): Show c.462-29977_462-29976insGTTTTGTTTTGTTTTGTTTTGTTTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	4/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	33059165	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03579.hp1 HG06807.hp1 HG02630.hp1 HG03579.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0031 a0002c0002t0005 a0002c0002t0051 a0001c0001t0031 a0002c0002t0005 a0002c0002t0051	a0001c0001t0031g0143 a0002c0002t0005g0141 a0002c0002t0051g0142 a0001c0001t0031g0143 a0002c0002t0005g0141 a0002c0002t0051g0142	3	184	0.0163	25	c.-10 others(36): Show c.-1037_-1036insCTTTTCTTTTCTTTTCTTTTCTTTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding		785		chr22	TogoVar
SYNCRIP_chr6_85608976_85647886	85631339	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	364	0.0028	25	c.666 others(42): Show c.666+5627_666+5628insTTTTTTTTTTTTTTTTTTTTTTTTT	SYNCRIP	ENSG00000135316.20	transcript	ENST00000369622.8	protein_coding	6/10			chr6	TogoVar
SYNC_chr1_32674906_32707770	32687843	A A	ATTATTAT others(18): Show ATTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0210 a0002c0002t0003g0210	1	318	0.0031	25	c.123 others(44): Show c.1234-3462_1234-3461insATAATAATAATAATAATAATAATAA	SYNC	ENSG00000162520.15	transcript	ENST00000409190.8	protein_coding	2/4			chr1	TogoVar
SYNC_chr1_32674906_32707770	32687855	A A	ATTATTAT others(18): Show ATTATTATTATTATTATTATTATTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03579.hp1 HG02647.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	2	318	0.0063	25	c.123 others(44): Show c.1234-3474_1234-3473insAAAATAATAATAATAATAATAATAA	SYNC	ENSG00000162520.15	transcript	ENST00000409190.8	protein_coding	2/4			chr1	TogoVar
SYNE1_chr6_152116687_152642362	152179673	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0029 a0029	a0029c0030 a0029c0030	a0029c0030t0007 a0029c0030t0007	a0029c0030t0007g0172 a0029c0030t0007g0172	1	174	0.0058	25	c.234 others(44): Show c.23460+438_23460+462dupAAAAAAAAAAAAAAAAAAAAAAAAA	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	129/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152188984	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0007 a0007	a0007c0085 a0007c0085	a0007c0085t0007 a0007c0085t0007	a0007c0085t0007g0148 a0007c0085t0007g0148	1	174	0.0058	25	c.233 others(44): Show c.23301+267_23301+268insATATATATATATATATATATATATT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	128/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152195843	G G	GGAGTCTG others(18): Show GGAGTCTGCAAATAGCAGGTGAAGGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp1 HG01081.hp2 others(28): Show HG00621.hp2 HG01081.hp1 HG01081.hp2 HG01884.hp2 HG02071.hp2 HG02109.hp2 HG02258.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18957.hp1 NA18994.hp2 NA19043.hp2 NA19066.hp1 NA19079.hp2 NA19082.hp2 NA20129.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0012 a0016 a0033 a0044 a0045 a0050 a0055 a0056 a0057 a0071 a0076 a0081 a0082 a0083 a0086 a0087 a0091 a0093 a0097 a0109 a0115 a0118 a0121 a0126 a0133	a0001c0139 a0002c0055 a0003c0153 others(28): Show a0001c0139 a0002c0055 a0003c0153 a0004c0092 a0004c0096 a0005c0064 a0012c0113 a0016c0069 a0033c0034 a0044c0101 a0045c0041 a0050c0070 a0055c0046 a0056c0045 a0057c0049 a0071c0098 a0076c0097 a0081c0036 a0082c0038 a0083c0039 a0086c0165 a0087c0105 a0091c0111 a0093c0119 a0097c0150 a0109c0142 a0115c0126 a0118c0157 a0121c0116 a0126c0017 a0133c0010	a0001c0139t0006 a0002c0055t0005 a0003c0153t0001 others(28): Show a0001c0139t0006 a0002c0055t0005 a0003c0153t0001 a0004c0092t0001 a0004c0096t0002 a0005c0064t0011 a0012c0113t0004 a0016c0069t0014 a0033c0034t0008 a0044c0101t0004 a0045c0041t0002 a0050c0070t0002 a0055c0046t0002 a0056c0045t0007 a0057c0049t0002 a0071c0098t0004 a0076c0097t0007 a0081c0036t0001 a0082c0038t0002 a0083c0039t0002 a0086c0165t0018 a0087c0105t0005 a0091c0111t0001 a0093c0119t0001 a0097c0150t0002 a0109c0142t0001 a0115c0126t0001 a0118c0157t0002 a0121c0116t0001 a0126c0017t0001 a0133c0010t0001	a0001c0139t0006g0146 a0002c0055t0005g0102 a0003c0153t0001g0034 others(28): Show a0001c0139t0006g0146 a0002c0055t0005g0102 a0003c0153t0001g0034 a0004c0092t0001g0028 a0004c0096t0002g0072 a0005c0064t0011g0047 a0012c0113t0004g0018 a0016c0069t0014g0003 a0033c0034t0008g0141 a0044c0101t0004g0085 a0045c0041t0002g0089 a0050c0070t0002g0006 a0055c0046t0002g0029 a0056c0045t0007g0161 a0057c0049t0002g0036 a0071c0098t0004g0012 a0076c0097t0007g0142 a0081c0036t0001g0058 a0082c0038t0002g0052 a0083c0039t0002g0025 a0086c0165t0018g0174 a0087c0105t0005g0084 a0091c0111t0001g0095 a0093c0119t0001g0116 a0097c0150t0002g0017 a0109c0142t0001g0114 a0115c0126t0001g0103 a0118c0157t0002g0011 a0121c0116t0001g0040 a0126c0017t0001g0098 a0133c0010t0001g0062	31	174	0.1782	25	c.231 others(46): Show c.23145+5980_23145+5981insTCCTTCACCTGCTATTTGCAGACT C	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	127/145			chr6	TogoVar
SYNE2_chr14_63848004_64231433	63913837	T T	TTTTTTAA others(18): Show TTTTTTAAATTTAATTTAATTTTAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00609.hp1 others(91): Show HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18949.hp1 NA18949.hp2 NA18953.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA18994.hp2 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19064.hp1 NA19065.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(45): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0032 a0033 a0034 a0036 a0039 a0040 a0044 a0045 a0046 a0048 a0049 a0052 a0056 a0059 a0061 a0063 a0065 a0066 a0067 a0069 a0071 a0072 a0073	a0001c0004 a0001c0005 a0001c0009 others(62): Show a0001c0004 a0001c0005 a0001c0009 a0001c0019 a0001c0025 a0001c0055 a0001c0065 a0002c0001 a0002c0057 a0002c0068 a0003c0002 a0003c0015 a0003c0034 a0003c0035 a0005c0013 a0005c0022 a0006c0007 a0009c0010 a0011c0017 a0011c0043 a0012c0008 a0013c0031 a0013c0032 a0014c0014 a0015c0095 a0015c0096 a0016c0070 a0016c0071 a0017c0012 a0018c0088 a0019c0021 a0020c0020 a0021c0024 a0022c0016 a0024c0098 a0024c0099 a0025c0030 a0026c0097 a0027c0044 a0028c0091 a0029c0028 a0030c0090 a0032c0082 a0033c0076 a0034c0027 a0036c0093 a0039c0072 a0040c0026 a0044c0075 a0045c0073 a0046c0074 a0048c0047 a0049c0067 a0052c0056 a0056c0053 a0059c0064 a0061c0049 a0063c0069 a0065c0046 a0066c0045 a0067c0029 a0069c0040 a0071c0036 a0072c0037 a0073c0038	a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 others(67): Show a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0009t0003 a0001c0019t0004 a0001c0025t0003 a0001c0055t0003 a0001c0065t0002 a0002c0001t0001 a0002c0001t0002 a0002c0057t0001 a0002c0068t0002 a0003c0002t0001 a0003c0002t0006 a0003c0002t0011 a0003c0015t0003 a0003c0034t0001 a0003c0035t0003 a0005c0013t0001 a0005c0022t0001 a0006c0007t0001 a0009c0010t0004 a0011c0017t0002 a0011c0043t0001 a0012c0008t0002 a0013c0031t0004 a0013c0032t0001 a0014c0014t0001 a0015c0095t0001 a0015c0096t0003 a0016c0070t0001 a0016c0071t0001 a0017c0012t0001 a0018c0088t0001 a0019c0021t0002 a0020c0020t0001 a0021c0024t0001 a0022c0016t0001 a0022c0016t0005 a0024c0098t0001 a0024c0099t0003 a0025c0030t0002 a0026c0097t0005 a0027c0044t0002 a0028c0091t0001 a0029c0028t0003 a0030c0090t0001 a0032c0082t0001 a0033c0076t0002 a0034c0027t0001 a0036c0093t0001 a0039c0072t0007 a0040c0026t0003 a0044c0075t0001 a0045c0073t0002 a0046c0074t0003 a0048c0047t0002 a0049c0067t0002 a0052c0056t0001 a0056c0053t0001 a0059c0064t0003 a0061c0049t0003 a0063c0069t0002 a0065c0046t0001 a0066c0045t0001 a0067c0029t0002 a0069c0040t0007 a0071c0036t0001 a0072c0037t0001 a0073c0038t0003	a0001c0004t0003g0132 a0001c0004t0004g0104 a0001c0004t0004g0105 others(91): Show a0001c0004t0003g0132 a0001c0004t0004g0104 a0001c0004t0004g0105 a0001c0004t0004g0127 a0001c0005t0001g0110 a0001c0009t0003g0112 a0001c0009t0003g0131 a0001c0019t0004g0119 a0001c0019t0004g0137 a0001c0025t0003g0084 a0001c0055t0003g0135 a0001c0065t0002g0126 a0002c0001t0001g0111 a0002c0001t0002g0117 a0002c0001t0002g0118 a0002c0001t0002g0120 a0002c0001t0002g0121 a0002c0001t0002g0122 a0002c0001t0002g0124 a0002c0001t0002g0142 a0002c0057t0001g0128 a0002c0068t0002g0140 a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0010 a0003c0002t0001g0091 a0003c0002t0001g0094 a0003c0002t0006g0093 a0003c0002t0011g0009 a0003c0015t0003g0011 a0003c0015t0003g0012 a0003c0034t0001g0015 a0003c0035t0003g0070 a0005c0013t0001g0138 a0005c0013t0001g0139 a0005c0022t0001g0116 a0006c0007t0001g0143 a0006c0007t0001g0144 a0006c0007t0001g0145 a0009c0010t0004g0113 a0011c0017t0002g0025 a0011c0017t0002g0088 a0011c0043t0001g0089 a0012c0008t0002g0007 a0012c0008t0002g0064 a0012c0008t0002g0095 a0013c0031t0004g0102 a0013c0032t0001g0103 a0014c0014t0001g0098 a0014c0014t0001g0099 a0015c0095t0001g0003 a0015c0096t0003g0004 a0016c0070t0001g0092 a0016c0071t0001g0129 a0017c0012t0001g0073 a0017c0012t0001g0097 a0018c0088t0001g0017 a0019c0021t0002g0020 a0019c0021t0002g0021 a0020c0020t0001g0134 a0021c0024t0001g0146 a0022c0016t0001g0149 a0022c0016t0005g0148 a0024c0098t0001g0082 a0024c0099t0003g0081 a0025c0030t0002g0101 a0026c0097t0005g0147 a0027c0044t0002g0123 a0028c0091t0001g0016 a0029c0028t0003g0023 a0030c0090t0001g0002 a0032c0082t0001g0100 a0033c0076t0002g0125 a0034c0027t0001g0083 a0036c0093t0001g0096 a0039c0072t0007g0018 a0040c0026t0003g0074 a0044c0075t0001g0130 a0045c0073t0002g0019 a0046c0074t0003g0022 a0048c0047t0002g0090 a0049c0067t0002g0107 a0052c0056t0001g0136 a0056c0053t0001g0133 a0059c0064t0003g0106 a0061c0049t0003g0108 a0063c0069t0002g0141 a0065c0046t0001g0114 a0066c0045t0001g0115 a0067c0029t0002g0086 a0069c0040t0007g0150 a0071c0036t0001g0001 a0072c0037t0001g0013 a0073c0038t0003g0028	94	150	0.6267	25	c.79+ others(40): Show c.79+4619_79+4643dupTTTAATTTAATTTTAAATTTTTAAA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	2/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63919972	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0094 a0003c0002t0001g0094	1	150	0.0067	25	c.79+ others(42): Show c.79+10764_79+10765insTTTTTTTTTTTTTTTTTTTTTTTTT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	2/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63944824	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0084 a0001c0025t0003g0084	1	150	0.0067	25	c.408 others(42): Show c.408+2682_408+2706dupTTTTTTTTTTTTTTTTTTTTTTTTT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	6/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE3_chr14_95402266_95521650	95488697	G G	GGAGGAGA others(18): Show GGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01106.hp1 others(11): Show HG00323.hp2 HG00642.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp2 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02486.hp1 HG03486.hp1 NA18957.hp2 NA18984.hp2 NA18999.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0037	a0001c0001 a0001c0076 a0002c0002 others(8): Show a0001c0001 a0001c0076 a0002c0002 a0002c0041 a0003c0004 a0003c0006 a0004c0003 a0004c0005 a0004c0035 a0007c0013 a0037c0046	a0001c0001t0045 a0001c0076t0130 a0002c0002t0052 others(10): Show a0001c0001t0045 a0001c0076t0130 a0002c0002t0052 a0002c0041t0190 a0003c0004t0014 a0003c0004t0186 a0003c0004t0187 a0003c0006t0137 a0004c0003t0019 a0004c0005t0013 a0004c0035t0203 a0007c0013t0197 a0037c0046t0171	a0001c0001t0045g0298 a0001c0001t0045g0299 a0001c0076t0130g0357 others(11): Show a0001c0001t0045g0298 a0001c0001t0045g0299 a0001c0076t0130g0357 a0002c0002t0052g0370 a0002c0041t0190g0111 a0003c0004t0014g0017 a0003c0004t0186g0344 a0003c0004t0187g0275 a0003c0006t0137g0157 a0004c0003t0019g0300 a0004c0005t0013g0124 a0004c0035t0203g0037 a0007c0013t0197g0276 a0037c0046t0171g0221	14	384	0.0365	25	c.-14 others(44): Show c.-14-12887_-14-12863dupTCCTCTCCTCTCCTCTCCTCTCCTC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	1/17			chr14	TogoVar
SYNJ2_chr6_157976863_158104176	158029042	C C	CCCTGCAG others(18): Show CCCTGCAGAGGGTGGGCCCTGGGTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(166): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18970.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0017 a0019	a0001c0001 a0001c0006 a0001c0007 others(36): Show a0001c0001 a0001c0006 a0001c0007 a0001c0013 a0001c0020 a0001c0025 a0001c0026 a0001c0028 a0001c0041 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0010 a0002c0014 a0002c0015 a0002c0023 a0002c0027 a0002c0031 a0003c0009 a0003c0038 a0004c0008 a0004c0040 a0005c0012 a0007c0024 a0007c0032 a0008c0049 a0009c0047 a0010c0018 a0011c0039 a0012c0022 a0014c0034 a0015c0048 a0017c0017 a0019c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 a0001c0001t0030 a0001c0001t0031 a0001c0006t0010 a0001c0007t0001 a0001c0013t0001 a0001c0020t0002 a0001c0025t0001 a0001c0026t0017 a0001c0028t0002 a0001c0041t0013 a0001c0043t0001 a0001c0044t0001 a0001c0045t0010 a0001c0046t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0015 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0004t0005 a0002c0005t0003 a0002c0005t0004 a0002c0005t0006 a0002c0005t0012 a0002c0010t0003 a0002c0014t0027 a0002c0015t0004 a0002c0023t0003 a0002c0027t0028 a0002c0031t0006 a0003c0009t0001 a0003c0038t0001 a0004c0008t0005 a0004c0008t0007 a0004c0040t0005 a0005c0012t0003 a0007c0024t0016 a0007c0032t0022 a0008c0049t0003 a0009c0047t0003 a0010c0018t0003 a0011c0039t0005 a0012c0022t0002 a0014c0034t0003 a0015c0048t0016 a0017c0017t0002 a0019c0042t0001	a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 others(166): Show a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0300 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0087 a0001c0001t0002g0110 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0182 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0219 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0246 a0001c0001t0002g0256 a0001c0001t0002g0278 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0002g0309 a0001c0001t0014g0273 a0001c0001t0014g0274 a0001c0001t0014g0275 a0001c0001t0017g0028 a0001c0001t0030g0189 a0001c0001t0031g0201 a0001c0006t0010g0012 a0001c0006t0010g0014 a0001c0007t0001g0303 a0001c0013t0001g0006 a0001c0013t0001g0247 a0001c0020t0002g0226 a0001c0025t0001g0167 a0001c0026t0017g0044 a0001c0028t0002g0293 a0001c0041t0013g0268 a0001c0043t0001g0017 a0001c0044t0001g0272 a0001c0045t0010g0271 a0001c0046t0001g0013 a0002c0002t0003g0059 a0002c0002t0003g0171 a0002c0002t0003g0184 a0002c0002t0003g0206 a0002c0002t0003g0285 a0002c0002t0003g0296 a0002c0002t0003g0298 a0002c0002t0003g0304 a0002c0002t0008g0284 a0002c0002t0009g0216 a0002c0002t0009g0217 a0002c0002t0015g0183 a0002c0003t0004g0061 a0002c0003t0004g0094 a0002c0003t0004g0095 a0002c0003t0004g0145 a0002c0003t0004g0289 a0002c0003t0004g0308 a0002c0003t0004g0311 a0002c0003t0004g0312 a0002c0003t0005g0243 a0002c0003t0005g0245 a0002c0003t0006g0064 a0002c0003t0006g0065 a0002c0003t0006g0117 a0002c0003t0006g0168 a0002c0003t0006g0222 a0002c0003t0006g0223 a0002c0003t0006g0225 a0002c0003t0007g0069 a0002c0003t0007g0233 a0002c0003t0007g0286 a0002c0003t0007g0290 a0002c0003t0011g0037 a0002c0003t0011g0144 a0002c0004t0005g0181 a0002c0004t0005g0267 a0002c0005t0003g0265 a0002c0005t0004g0055 a0002c0005t0006g0240 a0002c0005t0012g0089 a0002c0005t0012g0297 a0002c0010t0003g0250 a0002c0010t0003g0251 a0002c0014t0027g0160 a0002c0015t0004g0068 a0002c0015t0004g0082 a0002c0023t0003g0279 a0002c0027t0028g0169 a0002c0031t0006g0118 a0003c0009t0001g0007 a0003c0009t0001g0008 a0003c0009t0001g0009 a0003c0009t0001g0010 a0003c0038t0001g0019 a0004c0008t0005g0016 a0004c0008t0005g0021 a0004c0008t0005g0259 a0004c0008t0007g0022 a0004c0040t0005g0020 a0005c0012t0003g0105 a0005c0012t0003g0252 a0005c0012t0003g0253 a0007c0024t0016g0031 a0007c0032t0022g0244 a0008c0049t0003g0091 a0009c0047t0003g0207 a0010c0018t0003g0120 a0011c0039t0005g0011 a0012c0022t0002g0053 a0014c0034t0003g0060 a0015c0048t0016g0224 a0017c0017t0002g0260 a0019c0042t0001g0301	169	312	0.5417	25	c.485 others(38): Show c.485+38_485+62dupGTCTCCTGCAGAGGGTGGGCCCTGG	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0186 a0004c0004t0005g0186	1	420	0.0024	25	c.-64 others(34): Show c.-645_-644insTATATATATATATATATATATATTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0035 a0003c0003t0001g0035	1	420	0.0024	25	c.-64 others(34): Show c.-645_-644insTATATATATATATATATATTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNPR_chr3_63273308_63621924	63408142	A A	AAAAGAAA others(18): Show AAAAGAAAGAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG02129.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0060 a0001c0001t0001g0103 a0001c0001t0001g0104 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0008g0113	4	246	0.0163	25	c.85- others(42): Show c.85-72671_85-72670insAGAAAGAAAGAAAGAAAGAAAGAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408277	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	246	0.0041	25	c.85- others(42): Show c.85-72554_85-72553insAAGAAAGAAAGAAGGAAGGAAGGAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408296	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	246	0.0041	25	c.85- others(42): Show c.85-72534_85-72533insAGAAAGAAAGAAAGAAAGAAAGAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408324	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	246	0.0041	25	c.85- others(42): Show c.85-72505_85-72481dupAGAAAGAAAGAAAGAAAGAAAGAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408332	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	246	0.0041	25	c.85- others(42): Show c.85-72497_85-72473dupAGAAAGAAAGAAAGAAAGAAAGAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT10_chr12_33369238_33444819	33442737	C C	CCTTTTCT others(18): Show CCTTTTCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03516.hp1 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0135 a0001c0001t0020g0134 a0001c0001t0005g0135 a0001c0001t0020g0134	2	320	0.0063	25	c.-32 others(36): Show c.-3216_-3215insAAAAGAAAAGAAAAGAAAAGAAAAG	SYT10	ENSG00000110975.8	transcript	ENST00000228567.7	protein_coding		2919		chr12	TogoVar
SYT12_chr11_67018134_67055863	67055219	C C	CAACGGAG others(18): Show CAACGGAGGAGGAGGAAAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	296	0.0034	25	c.64 others(36): Show c.6462_*6463insAACGGAGGAGGAGGAAAGAGAGAGA	SYT12	ENSG00000173227.14	transcript	ENST00000527043.6	protein_coding		4357		chr11	TogoVar
SYT15B_chr10_47739717_47768592	47744413	G G	GGGGGGGG others(18): Show GGGGGGGGTTGGGGGGGAGGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG00738.hp2 others(41): Show HG00558.hp2 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01256.hp2 HG01496.hp1 HG01515.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02280.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp1 HG03017.hp1 HG03491.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04228.hp1 NA18939.hp1 NA18941.hp2 NA18969.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA19010.hp1 NA19060.hp2 NA19065.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0018 a0001c0001 a0001c0004 a0007c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0032 a0001c0001t0044 a0001c0001t0046 a0001c0001t0067 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0110 a0001c0004t0005 a0007c0018t0021	a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0022 others(27): Show a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0046 a0001c0001t0002g0081 a0001c0001t0002g0094 a0001c0001t0002g0111 a0001c0001t0003g0099 a0001c0001t0006g0011 a0001c0001t0006g0053 a0001c0001t0006g0056 a0001c0001t0006g0120 a0001c0001t0006g0126 a0001c0001t0011g0010 a0001c0001t0019g0085 a0001c0001t0019g0112 a0001c0001t0020g0028 a0001c0001t0020g0124 a0001c0001t0021g0029 a0001c0001t0032g0115 a0001c0001t0044g0044 a0001c0001t0046g0096 a0001c0001t0067g0095 a0001c0001t0078g0118 a0001c0001t0080g0116 a0001c0001t0081g0123 a0001c0001t0082g0121 a0001c0001t0110g0188 a0001c0004t0005g0153 a0007c0018t0021g0128	44	340	0.1294	25	c.97 others(36): Show c.9758_*9759insTTCCCCCCTCCCCCCCAACCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		303		chr10	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)