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
ARHGEF28_chr5_73621196_73946990	73828604	C C	CTCCTTTC others(29): Show CTCCTTTCCTTTTTCCTTTCCTTTCTTTTTTCCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG00741.hp2 others(12): Show HG00140.hp2 HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01517.hp2 HG02602.hp1 HG02615.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03704.hp1 NA19030.hp1 NA20129.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0008 a0016 a0025 a0031 a0039 a0040	a0001c0025 a0002c0002 a0002c0003 others(9): Show a0001c0025 a0002c0002 a0002c0003 a0003c0007 a0004c0057 a0007c0009 a0008c0011 a0016c0027 a0025c0033 a0031c0064 a0039c0051 a0040c0059	a0001c0025t0005 a0002c0002t0001 a0002c0002t0002 others(11): Show a0001c0025t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0003t0001 a0003c0007t0005 a0004c0057t0003 a0007c0009t0002 a0008c0011t0001 a0016c0027t0001 a0025c0033t0007 a0031c0064t0002 a0039c0051t0001 a0040c0059t0003	a0001c0025t0005g0131 a0002c0002t0001g0096 a0002c0002t0001g0182 others(12): Show a0001c0025t0005g0131 a0002c0002t0001g0096 a0002c0002t0001g0182 a0002c0002t0002g0086 a0002c0002t0003g0124 a0002c0003t0001g0129 a0003c0007t0005g0151 a0004c0057t0003g0107 a0007c0009t0002g0031 a0008c0011t0001g0128 a0016c0027t0001g0080 a0025c0033t0007g0174 a0031c0064t0002g0039 a0039c0051t0001g0150 a0040c0059t0003g0163	15	188	0.0798	36	c.102 others(55): Show c.1025-3723_1025-3722insTTCCTTTCCTTTCTTTTTTCCTTTTT CCTTTCCTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	9/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF37_chr5_149576498_149639968	149598761	T T	TATATATA others(29): Show TATATATATATATATATATATATATATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG02451.hp2 HG02809.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0026 a0008c0009t0003 a0008c0009t0026	a0008c0009t0003g0320 a0008c0009t0026g0318 a0008c0009t0003g0320 a0008c0009t0026g0318	2	394	0.0051	36	c.186 others(51): Show c.186+809_186+810insTATATATATATATATATATATATAGATAGA TAGATA	ARHGEF37	ENSG00000183111.12	transcript	ENST00000333677.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF37_chr5_149576498_149639968	149599434	C C	CTTATTTA others(29): Show CTTATTTATTTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG02074.hp2 others(6): Show HG00423.hp1 HG01081.hp1 HG02074.hp2 NA18939.hp2 NA18959.hp2 NA18962.hp2 NA19054.hp2 NA19057.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0003 a0001c0002 a0002c0001 a0003c0003	a0001c0002t0005 a0002c0001t0003 a0003c0003t0002 a0001c0002t0005 a0002c0001t0003 a0003c0003t0002	a0001c0002t0005g0368 a0002c0001t0003g0295 a0003c0003t0002g0007 others(4): Show a0001c0002t0005g0368 a0002c0001t0003g0295 a0003c0003t0002g0007 a0003c0003t0002g0010 a0003c0003t0002g0287 a0003c0003t0002g0291 a0003c0003t0002g0306	9	394	0.0228	36	c.186 others(53): Show c.186+1502_186+1503insTTTATTTATTTATTTATTTATTTATTTA TTTATTTA	ARHGEF37	ENSG00000183111.12	transcript	ENST00000333677.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF3_chr3_56722420_56806949	56794488	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG06807.hp1 HG02451.hp2 HG06807.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0015 a0002c0001t0001g0016	2	358	0.0056	36	c.96+ others(51): Show c.96+7214_96+7215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	1/9			chr3	TogoVar
ARHGEF4_chr2_130831914_131052253	130926048	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02698.hp1 HG03942.hp1 HG00621.hp1 HG02698.hp1 HG03942.hp1	a0002 a0007 a0002 a0007	a0002c0010 a0002c0040 a0007c0032 a0002c0010 a0002c0040 a0007c0032	a0002c0010t0001 a0002c0040t0001 a0007c0032t0001 a0002c0010t0001 a0002c0040t0001 a0007c0032t0001	a0002c0010t0001g0003 a0002c0040t0001g0044 a0007c0032t0001g0004 a0002c0010t0001g0003 a0002c0040t0001g0044 a0007c0032t0001g0004	3	144	0.0208	36	c.355 others(55): Show c.3553-4903_3553-4902insTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTT	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130926048	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp2 HG03041.hp2 others(2): Show HG02630.hp2 HG02970.hp2 HG03041.hp2 HG03471.hp2 NA20129.hp2	a0002 a0009 a0002 a0009	a0002c0011 a0002c0041 a0009c0021 a0002c0011 a0002c0041 a0009c0021	a0002c0011t0001 a0002c0011t0005 a0002c0041t0001 others(1): Show a0002c0011t0001 a0002c0011t0005 a0002c0041t0001 a0009c0021t0001	a0002c0011t0001g0133 a0002c0011t0001g0134 a0002c0011t0005g0054 others(2): Show a0002c0011t0001g0133 a0002c0011t0001g0134 a0002c0011t0005g0054 a0002c0041t0001g0053 a0009c0021t0001g0130	5	144	0.0347	36	c.355 others(55): Show c.3553-4903_3553-4902insTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTT	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF6_chrX_136660550_136785932	136686594	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATACATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	247	0.0041	36	c.124 others(53): Show c.1246-772_1246-771insTATGTATATATATATATATATATATATA TATATACA	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	11/21			chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136686630	A A	ATATATAT others(29): Show ATATATATATATACACACATATATATATACACATGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	247	0.0041	36	c.124 others(53): Show c.1246-843_1246-808dupCACATGTGTATATATATATGTGTGTATA TATATATA	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	11/21			chrX	TogoVar
ARID1B_chr6_156772378_157215779	157039654	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0013 a0003c0012t0013	a0003c0012t0013g0022 a0003c0012t0013g0022	1	150	0.0067	36	c.224 others(57): Show c.2248-44977_2248-44976insTTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157161431	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	150	0.0067	36	c.309 others(55): Show c.3090-5608_3090-5607insGTGTGTGTGTGTATATATATATATAT ATATATATAT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID2_chr12_45724706_45913037	45899671	T T	TTATATAT others(29): Show TTATATATATATATGGTTATATATATATGGTTATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	318	0.0031	36	c.536 others(55): Show c.5364-5256_5364-5255insATATATGGTTATATATATATGGTTAT ATATATATAT	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID4A_chr14_58293555_58378876	58337242	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03579.hp1 HG02572.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0158 a0001c0003t0002g0008 a0001c0003t0002g0158	2	294	0.0068	36	c.906 others(53): Show c.906+7076_906+7077insATATATATATATATATATATATATATAT ATATATAT	ARID4A	ENSG00000032219.19	transcript	ENST00000355431.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
ARID4A_chr14_58293555_58378876	58337246	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01109.hp1 others(5): Show HG00140.hp2 HG01074.hp1 HG01109.hp1 HG01981.hp1 HG02083.hp1 NA18941.hp1 NA18945.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0001t0001g0081 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0169 a0001c0007t0001g0078	8	294	0.0272	36	c.906 others(53): Show c.906+7099_906+7100insTATATATATATATATATATATATATATA TATATATA	ARID4A	ENSG00000032219.19	transcript	ENST00000355431.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
ARID4B_chr1_235161902_235333179	235221886	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	272	0.0037	36	c.106 others(53): Show c.1066-225_1066-224insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	13/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236831	A A	AATATATA others(29): Show AATATATATATATATATATATATATATGTATGTATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0096 a0001c0009t0001g0096	1	272	0.0037	36	c.586 others(53): Show c.586-2340_586-2339insATATACATACATATATATATATATATAT ATATATAT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236833	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	272	0.0037	36	c.586 others(53): Show c.586-2342_586-2341insATATATATATATATATATATATATATAT TTTTTTTT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255265	A A	AGATAGAT others(29): Show AGATAGATAGATAGATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	272	0.0037	36	c.274 others(51): Show c.274+394_274+395insGATAGATAGATAGATAGATAGATCTATCTA TCTATC	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARIH1_chr15_72469330_72607987	72513742	C C	CCTCCCTC others(29): Show CCTCCCTCCCTCCCCCTCTCCCTCCCTCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp2 HG02886.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0078 a0001c0001t0023 a0001c0001t0078	a0001c0001t0023g0088 a0001c0001t0078g0086 a0001c0001t0023g0088 a0001c0001t0078g0086	2	262	0.0076	36	c.376 others(53): Show c.376-4300_376-4265dupCTCCCTCCCCCTCTCCCTCCCTCCCCCT CTCCCTCC	ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARK2N_chr18_46169034_46271992	46259885	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	320	0.0031	36	c.102 others(55): Show c.1026-3030_1026-3029insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18963.hp2 NA18967.hp2 HG00609.hp2 NA18963.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	400	0.0075	36	c.554 others(53): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL3_chr10_102668731_102719397	102708908	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0353 a0001c0001t0003g0353	1	424	0.0024	36	c.4-3 others(49): Show c.4-3420_4-3419insAAAAAATATATATATATATATATATATATATA TATA	ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5			chr10	TogoVar
ARL5C_chr17_39151894_39171161	39163345	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19090.hp2 NA19001.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0187 a0001c0001t0001g0081 a0001c0001t0001g0187	2	410	0.0049	36	c.108 others(51): Show c.108-523_108-488dupAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	434	0.0023	36	c.62 others(47): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAATATATATATAT AT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099575	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00642.hp2 others(32): Show HG00323.hp1 HG00423.hp2 HG00642.hp2 HG00733.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp2 HG01258.hp2 HG01517.hp1 HG01978.hp1 HG01978.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG02976.hp2 HG03654.hp1 NA18942.hp1 NA18951.hp2 NA18952.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18981.hp2 NA18985.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19058.hp1 NA19072.hp2 NA19080.hp2 NA19089.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0012	a0001c0001t0005 a0001c0001t0014 a0001c0001t0032 others(3): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0032 a0001c0003t0075 a0002c0002t0005 a0009c0012t0005	a0001c0001t0005g0001 a0001c0001t0005g0006 a0001c0001t0005g0008 others(15): Show a0001c0001t0005g0001 a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0024 a0001c0001t0005g0096 a0001c0001t0005g0145 a0001c0001t0005g0165 a0001c0001t0014g0002 a0001c0001t0014g0005 a0001c0001t0014g0010 a0001c0001t0014g0084 a0001c0001t0014g0129 a0001c0001t0032g0027 a0001c0001t0032g0049 a0001c0001t0032g0050 a0001c0003t0075g0139 a0002c0002t0005g0003 a0009c0012t0005g0001	35	390	0.0897	36	c.10 others(47): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARMC2_chr6_108843422_108979476	108881296	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01168.hp2 others(19): Show HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG02027.hp1 HG02572.hp2 HG02809.hp2 HG02886.hp1 HG03098.hp1 HG03486.hp2 HG03710.hp2 HG03927.hp2 HG06807.hp2 NA18945.hp1 NA18964.hp2 NA18977.hp2 NA19007.hp1 NA19062.hp1 NA19063.hp1 NA19088.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0002	a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0220 others(19): Show a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0002g0062 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0003g0196 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0003c0003t0002g0070	22	290	0.0759	36	c.671 others(53): Show c.671+4967_671+4968insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARMH3_chr10_101840599_102061173	101935174	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02148.hp1 HG02273.hp1 others(1): Show HG02015.hp1 HG02148.hp1 HG02273.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0088	4	262	0.0153	36	c.178 others(55): Show c.1781+4688_1781+4689insATATATATATATATATATATATATAT ATATATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA18980.hp2 NA18992.hp2 others(1): Show HG02293.hp2 NA18980.hp2 NA18992.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0004 a0001c0001t0001g0007	4	332	0.0121	36	c.-16 others(47): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARPP21_chr3_35634525_35799486	35667885	A A	AGAAGAAG others(29): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0057 a0005c0012t0001g0057	1	266	0.0038	36	c.-21 others(57): Show c.-212-11897_-212-11896insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAGGAAGA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARSG_chr17_68286495_68425814	68331213	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0066 a0004c0021t0001g0066	1	304	0.0033	36	c.219 others(55): Show c.219-12372_219-12371insCTTTCTTTCTTTCTTTGTTTCTTTCT TTCTTTCTTT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AS3MT_chr10_102864470_102906899	102869497	T T	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp2 HG02129.hp2 others(5): Show HG01109.hp1 HG02027.hp2 HG02129.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03540.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0027 a0001c0001t0009 a0001c0001t0027	a0001c0001t0009g0184 a0001c0001t0009g0198 a0001c0001t0009g0208 others(5): Show a0001c0001t0009g0184 a0001c0001t0009g0198 a0001c0001t0009g0208 a0001c0001t0009g0263 a0001c0001t0009g0264 a0001c0001t0009g0265 a0001c0001t0009g0266 a0001c0001t0027g0240	8	362	0.0221	36	c.-19 others(44): Show c.-19_1+16dupAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01516.hp1 HG01517.hp2 others(2): Show HG00735.hp1 HG01516.hp1 HG01517.hp2 HG02922.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0006g0015 a0001c0001t0007g0115 a0001c0001t0013g0181 others(2): Show a0001c0001t0006g0015 a0001c0001t0007g0115 a0001c0001t0013g0181 a0001c0001t0013g0192 a0001c0001t0013g0193	5	362	0.0138	36	c.886 others(51): Show c.886-927_886-926insGCCTGCCTGCCTGCCTGCCTGCCTTCCTTC CTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	362	0.0028	36	c.886 others(51): Show c.886-927_886-926insGCCTGCCTGCCTGCCTGCCTTCCTTCCTTC CTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	362	0.0028	36	c.886 others(51): Show c.886-927_886-926insGCCTGCCTGCCTGCCTTCCTTCCTTCCTTC CTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906802	T T	TGTGAATA others(29): Show TGTGAATATTAAATAAGCCTACGCTGGAAAGCAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0056 a0001c0002t0024g0056	1	362	0.0028	36	c.61 others(47): Show c.6102_*6103insGTGAATATTAAATAAGCCTACGCTGGAAAGCAAA TG	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4904		chr10	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0308 a0001c0001t0013g0308	1	308	0.0033	36	c.270 others(55): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCACACACACAC ACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	308	0.0033	36	c.270 others(55): Show c.2701+3523_2701+3524insGCGCGCGCGCGCACACACACACACAC ACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	308	0.0033	36	c.270 others(55): Show c.2701+3523_2701+3524insGCGCGCGCGCACACACACACACACAC ACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0302 a0001c0001t0013g0302	1	308	0.0033	36	c.270 others(55): Show c.2701+3523_2701+3524insGCGCGCGCACACACACACACACACAC ACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	308	0.0033	36	c.270 others(55): Show c.2701+3523_2701+3524insGCGCGCACACACACACACACACACAC ACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256761	A A	ATATATCC others(29): Show ATATATCCTTATATATATATATATATATATATATCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0088 a0001c0001t0028g0088	1	308	0.0033	36	c.187 others(55): Show c.187-19768_187-19767insAGGATATATATATATATATATATATA TAAGGATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130346771	T T	TTAAATTA others(29): Show TTAAATTATTAAATTTAAATTATTAAATTTTAAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp2 HG02145.hp1 others(4): Show HG00099.hp1 HG01891.hp2 HG02145.hp1 HG02615.hp1 HG02698.hp1 HG02922.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 others(1): Show a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0003c0010t0019	a0001c0001t0008g0011 a0001c0001t0008g0017 a0001c0001t0008g0021 others(4): Show a0001c0001t0008g0011 a0001c0001t0008g0017 a0001c0001t0008g0021 a0001c0001t0018g0290 a0001c0001t0018g0294 a0001c0001t0019g0286 a0003c0010t0019g0287	7	308	0.0227	36	c.186 others(55): Show c.186+11245_186+11246insTATTTTAAAATTTAATAATTTAAATT TAATAATTTA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0009 a0002c0005t0001g0009	1	210	0.0048	36	c.127 others(55): Show c.127-25080_127-25079insAAAAAAAATATATATATATATATATA TATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG00735.hp2 HG00738.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0005 a0002c0001t0001 a0001c0004t0005 a0002c0001t0001	a0001c0004t0005g0195 a0002c0001t0001g0042 a0001c0004t0005g0195 a0002c0001t0001g0042	2	210	0.0095	36	c.127 others(55): Show c.127-25080_127-25079insAAAAAATATATATATATATATATATA TATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0094 a0001c0002t0003g0094	1	210	0.0048	36	c.127 others(55): Show c.127-25080_127-25079insAAAATATATATATATATATATATATA TATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397727	G G	GAGATATA others(29): Show GAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0138 a0001c0004t0005g0138	1	210	0.0048	36	c.268 others(55): Show c.2685-2295_2685-2294insGATATATATATATATATATATATATA TATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGGAGAAG others(29): Show GGGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0249 a0001c0001t0013g0249	1	446	0.0022	36	c.43+ others(51): Show c.43+3943_43+3944insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198369	G G	GAGGGAAG others(29): Show GAGGGAAGGGGAGGGGGAGGGGAGGGGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	216	0.0046	36	c.311 others(53): Show c.311-1381_311-1380insTCCCTTCCCTCCCCTCCCCTCCCCCTCC CCTTCCCT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198375	A A	AGGGGGAG others(29): Show AGGGGGAGGGGAGGGAGGGGGAGGGGAGCGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	216	0.0046	36	c.311 others(53): Show c.311-1387_311-1386insCTCCCTCCGCTCCCCTCCCCCTCCCTCC CCTCCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTTCTTC others(29): Show CTTTCTTCCTTCCTTCCTTTCTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0006 a0002c0009t0006	a0002c0009t0006g0001 a0002c0009t0006g0001	1	354	0.0028	36	c.31 others(47): Show c.3126_*3127insTTTCTTCCTTCCTTCCTTTCTCTTTCTTTCTTTC TT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1928		chr12	TogoVar
ASDURF_chr2_189656459_189671401	189665604	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	340	0.0029	36	c.220 others(51): Show c.220+186_220+187insGTGTATATATATATATATATATATATATAT ATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 8848 hits)