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 (≤).

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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
SYCP1_chr1_114849863_115000370	114881501	A A	ATCCTTCC others(29): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02451.hp1 HG02738.hp1 others(2): Show HG00738.hp2 HG02451.hp1 HG02738.hp1 HG04115.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0064 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0096	5	312	0.0160	36	c.910 others(53): Show c.910+3305_910+3340dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	SYCP1	ENSG00000198765.12	transcript	ENST00000369522.8	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYK_chr9_90796819_90903549	90802815	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0366 a0001c0001t0027g0366	1	376	0.0027	36	c.-42 others(51): Show c.-42+934_-42+935insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884460	T T	TACACATA others(29): Show TACACATATGTGTACATGCACATATATACACATACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0002 a0001c0005t0007g0002	2	376	0.0053	36	c.158 others(55): Show c.1582-3288_1582-3287insCACATATGTGTACATGCACATATATA CACATACACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884706	C C	CATATATA others(29): Show CATATATACACATGTACACATATGTGTACGTGTACAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0152 a0001c0001t0005g0152	1	376	0.0027	36	c.158 others(55): Show c.1582-3038_1582-3037insTACACATGTACACATATGTGTACGTG TACATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884738	C C	CATATATA others(29): Show CATATATACACATGTACACATATGTGTACGTGTACAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18944.hp1 NA18973.hp1 others(4): Show HG02523.hp1 NA18944.hp1 NA18973.hp1 NA18992.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0001 a0001c0001t0064 a0003c0015t0001 a0001c0001t0001 a0001c0001t0064 a0003c0015t0001	a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0141 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0141 a0001c0001t0001g0205 a0001c0001t0001g0288 a0001c0001t0064g0154 a0003c0015t0001g0142	7	376	0.0186	36	c.158 others(55): Show c.1582-3006_1582-3005insTACACATGTACACATATGTGTACGTG TACATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32572243	C C	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0106 a0001c0001t0018g0106	1	184	0.0054	36	c.774 others(55): Show c.774+24430_774+24431insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32650230	T T	TCTCCCTC others(29): Show TCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	184	0.0054	36	c.712 others(55): Show c.712-53495_712-53494insGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32758681	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01074.hp1 others(7): Show HG01070.hp1 HG01071.hp2 HG01074.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG03239.hp1 HG03669.hp1 NA18995.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0025 a0001c0001t0028 a0001c0001t0059 a0001c0001t0074 a0002c0002t0004 a0002c0002t0071	a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0005g0158 others(7): Show a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0005g0158 a0001c0001t0010g0165 a0001c0001t0025g0023 a0001c0001t0028g0054 a0001c0001t0059g0078 a0001c0001t0074g0071 a0002c0002t0004g0154 a0002c0002t0071g0155	10	184	0.0544	36	c.711 others(57): Show c.711+106233_711+106234insATATATATATATATATATATATAT ATATATATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32780935	T T	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0148 a0001c0001t0033g0148	1	184	0.0054	36	c.711 others(55): Show c.711+83979_711+83980insCGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01069.hp2 others(18): Show HG00140.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01433.hp1 HG02056.hp1 HG02280.hp1 HG02280.hp2 HG02723.hp2 HG02886.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03942.hp1 NA18906.hp1 NA18969.hp1 NA18995.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0025 a0001c0001t0033 a0001c0001t0038 a0001c0001t0053 a0001c0001t0075 a0001c0004t0017 a0001c0004t0035 a0002c0002t0004 a0002c0002t0011	a0001c0001t0001g0033 a0001c0001t0001g0086 a0001c0001t0002g0072 others(18): Show a0001c0001t0001g0033 a0001c0001t0001g0086 a0001c0001t0002g0072 a0001c0001t0003g0070 a0001c0001t0003g0128 a0001c0001t0006g0073 a0001c0001t0009g0067 a0001c0001t0010g0087 a0001c0001t0012g0053 a0001c0001t0013g0081 a0001c0001t0013g0139 a0001c0001t0020g0022 a0001c0001t0025g0023 a0001c0001t0033g0148 a0001c0001t0038g0038 a0001c0001t0053g0041 a0001c0001t0075g0178 a0001c0004t0017g0055 a0001c0004t0035g0066 a0002c0002t0004g0027 a0002c0002t0011g0061	21	184	0.1141	36	c.711 others(55): Show c.711+50590_711+50591insCCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYNE3_chr14_95402266_95521650	95429967	T T	TAAGGAAG others(29): Show TAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01099.hp1 others(12): Show HG00408.hp2 HG00609.hp1 HG01099.hp1 HG01109.hp1 HG01981.hp2 HG02080.hp1 HG02258.hp1 HG02630.hp2 HG03239.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18952.hp2 NA19068.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0012 a0034	a0001c0001 a0001c0021 a0001c0032 others(11): Show a0001c0001 a0001c0021 a0001c0032 a0001c0039 a0001c0094 a0002c0002 a0002c0007 a0002c0015 a0002c0017 a0004c0003 a0004c0045 a0005c0034 a0012c0024 a0034c0068	a0001c0001t0054 a0001c0021t0102 a0001c0032t0213 others(12): Show a0001c0001t0054 a0001c0021t0102 a0001c0032t0213 a0001c0039t0007 a0001c0094t0210 a0002c0002t0006 a0002c0007t0006 a0002c0015t0008 a0002c0017t0031 a0004c0003t0099 a0004c0045t0093 a0005c0034t0001 a0012c0024t0008 a0012c0024t0062 a0034c0068t0070	a0001c0001t0054g0369 a0001c0021t0102g0090 a0001c0032t0213g0364 others(12): Show a0001c0001t0054g0369 a0001c0021t0102g0090 a0001c0032t0213g0364 a0001c0039t0007g0085 a0001c0094t0210g0068 a0002c0002t0006g0159 a0002c0007t0006g0247 a0002c0015t0008g0106 a0002c0017t0031g0004 a0004c0003t0099g0178 a0004c0045t0093g0146 a0005c0034t0001g0150 a0012c0024t0008g0069 a0012c0024t0062g0362 a0034c0068t0070g0249	15	384	0.0391	36	c.272 others(55): Show c.2727+2111_2727+2112insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0003	1	420	0.0024	36	c.-64 others(45): Show c.-645_-644insTATATATATATATATATATATATATATTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 NA18974.hp1 NA18994.hp2 HG00099.hp2 NA18974.hp1 NA18994.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0003 a0005c0006t0004 a0003c0003t0003 a0005c0006t0004	a0003c0003t0003g0032 a0003c0003t0003g0098 a0005c0006t0004g0055 a0003c0003t0003g0032 a0003c0003t0003g0098 a0005c0006t0004g0055	3	420	0.0071	36	c.-64 others(45): Show c.-645_-644insTATATATATATATATATATATATATTTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA18969.hp2 NA18988.hp2 HG03831.hp2 NA18969.hp2 NA18988.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0004 a0005c0006 a0003c0003 a0004c0004 a0005c0006	a0003c0003t0003 a0004c0004t0034 a0005c0006t0004 a0003c0003t0003 a0004c0004t0034 a0005c0006t0004	a0003c0003t0003g0088 a0004c0004t0034g0190 a0005c0006t0004g0059 a0003c0003t0003g0088 a0004c0004t0034g0190 a0005c0006t0004g0059	3	420	0.0071	36	c.-64 others(45): Show c.-645_-644insTATATATATATATATATATATATTTTTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99117724	C C	CCGGGGCC others(29): Show CCGGGGCCTGCCTTTTTGGTAGGGTATTCACAAGCCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0011 a0023c0035t0011	a0023c0035t0011g0180 a0023c0035t0011g0180	1	420	0.0024	36	c.935 others(53): Show c.935+4050_935+4085dupGCCTGCCTTTTTGGTAGGGTATTCACAA GCCACGGG	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SYNPO2_chr4_118883854_119066247	118890697	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03209.hp2 HG02486.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0019 a0001c0001 a0002c0019	a0001c0001t0012 a0002c0019t0010 a0001c0001t0012 a0002c0019t0010	a0001c0001t0012g0065 a0002c0019t0010g0064 a0001c0001t0012g0065 a0002c0019t0010g0064	2	310	0.0065	36	c.105 others(53): Show c.105+1580_105+1581insCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63313772	T T	TATATATA others(29): Show TATATATATATCCATATATATATCGATATATATATCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp2 HG02486.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0207 a0001c0001t0005g0206 a0001c0001t0001g0207 a0001c0001t0005g0206	2	246	0.0081	36	c.84+ others(53): Show c.84+35052_84+35053insCGATATATATATCCATATATATATCCAT ATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313772	T T	TATATATA others(29): Show TATATATATCCATATATATATATCCATATATATATCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18939.hp2 NA18952.hp1 others(1): Show HG02132.hp2 NA18939.hp2 NA18952.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0002g0009 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0003g0010	4	246	0.0163	36	c.84+ others(53): Show c.84+35038_84+35039insCCATATATATATATCCATATATATATCC ATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313772	T T	TATATATA others(29): Show TATATATATCCATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp2 HG01952.hp2 others(2): Show HG01175.hp2 HG01255.hp2 HG01952.hp2 HG01978.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0139 others(2): Show a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0221 a0001c0001t0007g0131	5	246	0.0203	36	c.84+ others(53): Show c.84+35038_84+35039insCCATATATATATCCATATATATATATCC ATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313786	T T	TATATATA others(29): Show TATATATATCCATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	246	0.0041	36	c.84+ others(53): Show c.84+35052_84+35053insCCATATATATATCCATATATATATATCC ATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408142	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18983.hp1 HG06807.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0046 a0001c0001t0007g0182 a0001c0001t0001g0046 a0001c0001t0007g0182	2	246	0.0081	36	c.85- others(53): Show c.85-72672_85-72637dupAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408194	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	246	0.0041	36	c.85- others(53): Show c.85-72637_85-72636insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGGAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408194	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0234 a0001c0006t0006g0234	1	246	0.0041	36	c.85- others(53): Show c.85-72637_85-72636insAAGAAAGAAAGAAAGAAAGAAAGAGGAA GGAAGGAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408194	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	246	0.0041	36	c.85- others(53): Show c.85-72637_85-72636insAAGAAAGAAAGAAAGAAAGAGGAAGGAA GGAAGGAA	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(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	246	0.0041	36	c.85- others(53): Show c.85-72554_85-72553insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AGGAGGAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63494399	A A	ATATATAT others(29): Show ATATATATATATATATATACGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	246	0.0041	36	c.209 others(55): Show c.209+13456_209+13491dupTATATACGTATATATATATATACGTA TATATATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595745	A A	ATATATAT others(29): Show ATATATATATATATATATAATTTTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02155.hp1 HG00544.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0210 a0001c0001t0002g0175 a0001c0001t0002g0210	2	246	0.0081	36	c.409 others(55): Show c.409-13362_409-13361insATTTTATATATATATAGTTATATATA TATATATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT12_chr11_67018134_67055863	67035837	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	296	0.0034	36	c.228 others(53): Show c.228+1002_228+1003insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCTT	SYT12	ENSG00000173227.14	transcript	ENST00000527043.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT14_chr1_209933217_210176315	210059451	T T	TATATATA others(29): Show TATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0235 a0001c0001t0020g0235	1	358	0.0028	36	c.443 others(55): Show c.443-34870_443-34869insTATATATATATATATATATATATAGA GAGAGAGAGA	SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT16_chr14_61807703_62117550	62011926	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	174	0.0058	36	c.523 others(55): Show c.523+15400_523+15401insATATATATATATATATATATATATAT ATATATATAT	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT1_chr12_78859774_79457008	79446000	T T	TATATATA others(29): Show TATATATATACATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp1 HG03516.hp1 HG01255.hp2 HG02257.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0040 a0001c0001t0003g0055 a0001c0001t0008g0060 a0001c0001t0003g0040 a0001c0001t0003g0055 a0001c0001t0008g0060	3	62	0.0484	36	c.106 others(55): Show c.1062+1803_1062+1804insCATATATATATATATATATATATATA CATATATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT3_chr19_50616977_50644881	50629572	T T	TCCAGGAG others(29): Show TCCAGGAGTCCAGCCCCCAGCCCCTCCTCCCTCAGAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03017.hp1 HG02738.hp2 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0085 a0001c0002t0002g0086	2	388	0.0052	36	c.106 others(51): Show c.1063-96_1063-61dupGTCTGAGGGAGGAGGGGCTGGGGGCTGGAC TCCTGG	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar
SYT3_chr19_50616977_50644881	50629611	A A	AGGAGTCC others(29): Show AGGAGTCCAGGCCCCCACCCCTCCTCCCTCAGACCCG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0253 a0001c0003t0003g0253	1	388	0.0026	36	c.106 others(52): Show c.1063-100_1063-99insCGGGTCTGAGGGAGGAGGGGTGGGGGCCT GGACTCC	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar
SYT5_chr19_55166196_55185289	55168406	T T	TATATATA others(29): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0019 a0002c0003t0007g0019	1	410	0.0024	36	c.50 others(47): Show c.5077_*5078insCTCTCTCTCTCTCTCTCTATATATATATATATAT AT	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		2789		chr19	TogoVar
SYT5_chr19_55166196_55185289	55168406	T T	TATATATA others(29): Show TATATATATATATATATATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0012 a0002c0003t0007g0012	2	410	0.0049	36	c.50 others(47): Show c.5077_*5078insCTCTCTCTCTCTCTATATATATATATATATATAT AT	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		2789		chr19	TogoVar
SYT5_chr19_55166196_55185289	55170872	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0053 a0001c0012t0053	a0001c0012t0053g0085 a0001c0012t0053g0085	1	410	0.0024	36	c.26 others(47): Show c.2611_*2612insAAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA GA	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		323		chr19	TogoVar
SYT6_chr1_114084292_114158869	114143495	T T	TGTATAAG others(29): Show TGTATAAGTTATATATAACTTATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp2 HG02886.hp2 HG02055.hp1 HG02818.hp2 HG02886.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0026 a0002c0003t0014 a0002c0003t0026	a0002c0003t0014g0243 a0002c0003t0014g0245 a0002c0003t0026g0244 a0002c0003t0014g0243 a0002c0003t0014g0245 a0002c0003t0026g0244	3	426	0.0070	36	c.164 others(53): Show c.164-3568_164-3533dupGTATATATACACATATAAGTTATATATA ACTTATAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT6_chr1_114084292_114158869	114149218	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0411 a0001c0001t0018g0411	1	426	0.0024	36	c.163 others(53): Show c.163+4391_163+4392insGCGCGCACACACACACACACACACACAC ACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT6_chr1_114084292_114158869	114149220	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02486.hp1 others(11): Show HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG03540.hp2 NA18906.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0029 a0002c0003t0018	a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0002g0111 others(11): Show a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0002g0111 a0001c0001t0003g0107 a0001c0001t0007g0116 a0001c0001t0010g0106 a0001c0001t0011g0110 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0011g0117 a0001c0001t0013g0108 a0001c0001t0029g0112 a0002c0003t0018g0412 a0002c0003t0018g0413	14	426	0.0329	36	c.163 others(53): Show c.163+4389_163+4390insGCGCGCGCACACACACACACACACACAC ACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT6_chr1_114084292_114158869	114149220	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03471.hp1 HG02895.hp2 HG02897.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0002c0003t0004 a0001c0001t0010 a0002c0003t0004	a0001c0001t0010g0226 a0002c0003t0004g0224 a0002c0003t0004g0225 a0001c0001t0010g0226 a0002c0003t0004g0224 a0002c0003t0004g0225	3	426	0.0070	36	c.163 others(53): Show c.163+4389_163+4390insGCGCGCACACACACACACACACACACAC ACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT6_chr1_114084292_114158869	114149222	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19057.hp2 NA19068.hp1 NA18977.hp2 NA19057.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0404 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0001g0404 a0001c0001t0001g0405 a0001c0001t0001g0406	3	426	0.0070	36	c.163 others(53): Show c.163+4387_163+4388insGCGCGCGCGCGCGCACACACACACACAC ACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT7_chr11_61508714_61586076	61520023	T T	TTGGGCAA others(29): Show TTGGGCAAACTGGTCTCACACTCCTGACCTCGTGATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	190	0.0053	36	c.195 others(55): Show c.1957-1328_1957-1293dupGATCACGAGGTCAGGAGTGTGAGACC AGTTTGCCCA	SYT7	ENSG00000011347.10	transcript	ENST00000539008.6	protein_coding	12/12			chr11	TogoVar
SYTL1_chr1_27337022_27358932	27342816	G G	GACGTGGG others(29): Show GACGTGGGCTCACACCCCAATCCACAGGGGAGGCCGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 NA18944.hp1 HG02280.hp1 HG02572.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0040 a0001c0004t0001g0035 a0001c0001t0001g0040 a0001c0004t0001g0035	3	378	0.0079	36	c.-39 others(51): Show c.-39+717_-39+752dupCCCAATCCACAGGGGAGGCCGAACGTGGGC TCACAC	SYTL1	ENSG00000142765.18	transcript	ENST00000616558.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
TAB2_chr6_149312712_149416607	149357430	A A	AAAAAAAA others(29): Show AAAAAAAACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0328 a0001c0001t0003g0328	1	366	0.0027	36	c.-89 others(55): Show c.-89-12478_-89-12477insAAAAAACACACACACACACACACACA CACACACACA	TAB2	ENSG00000055208.20	transcript	ENST00000637181.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAB2_chr6_149312712_149416607	149358640	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0204	1	366	0.0027	36	c.-89 others(55): Show c.-89-11236_-89-11235insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	TAB2	ENSG00000055208.20	transcript	ENST00000637181.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAB3_chrX_30822442_30894254	30868301	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATAAGCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0164 a0001c0001t0055g0164	1	302	0.0033	36	c.-27 others(53): Show c.-279-753_-279-752insAAAGCTTATATATATATATATATATATA TATATATA	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar
TAB3_chrX_30822442_30894254	30868316	T T	TATATATA others(29): Show TATATATATAAGCTTTTATATATATATAGCTTATATA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	1	302	0.0033	36	c.-27 others(53): Show c.-279-768_-279-767insTATATAAGCTATATATATATAAAAGCTT ATATATAT	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar
TACC2_chr10_121984163_122259542	122048403	T T	TCCTCCCT others(29): Show TCCTCCCTCCCTCCCTTCCTTCCCTCCTTGCTTCCTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0031 a0031	a0031c0045 a0031c0045	a0031c0045t0001 a0031c0045t0001	a0031c0045t0001g0246 a0031c0045t0001g0246	1	306	0.0033	36	c.34- others(51): Show c.34-2019_34-1984dupTCCTTCCCTCCTTGCTTCCTCCCTCCCTCC CTCCCT	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TACC2_chr10_121984163_122259542	122132032	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0050 a0050	a0050c0068 a0050c0068	a0050c0068t0001 a0050c0068t0001	a0050c0068t0001g0090 a0050c0068t0001g0090	1	306	0.0033	36	c.557 others(53): Show c.5574-557_5574-556insGAAGGAAGGAAGGAAGAAAGAAAGAAAG AAAGAAAG	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TACC2_chr10_121984163_122259542	122132033	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03041.hp2 HG03098.hp2	a0001 a0064 a0001 a0064	a0001c0001 a0064c0095 a0001c0001 a0064c0095	a0001c0001t0002 a0064c0095t0001 a0001c0001t0002 a0064c0095t0001	a0001c0001t0002g0101 a0064c0095t0001g0296 a0001c0001t0002g0101 a0064c0095t0001g0296	2	306	0.0065	36	c.557 others(53): Show c.5574-561_5574-560insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAG	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 8848 hits)