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
ARHGEF28_chr5_73621196_73946990	73741385	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03490.hp1 HG02257.hp2 HG03490.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0005c0008t0001 a0001c0001t0002 a0005c0008t0001	a0001c0001t0002g0085 a0005c0008t0001g0017 a0001c0001t0002g0085 a0005c0008t0001g0017	2	188	0.0106	-22	c.34- others(37): Show c.34-8416_34-8395delATATATATATATATATATATAT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF2_chr1_155941854_155983547	155964165	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG02109.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	284	0.0070	-22	c.724 others(37): Show c.724+801_724+822delATATATATATATATATATATTT	ARHGEF2	ENSG00000116584.22	transcript	ENST00000361247.9	protein_coding	7/21			chr1	TogoVar
ARHGEF4_chr2_130831914_131052253	130833375	GAAGGAAA others(15): Show GAAGGAAAGAAAGAAAGAAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	144	0.0069	-22	c.-35 others(33): Show c.-3578_-3557delAAGGAAAGAAAGAAAGAAAAGA	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding		3538		chr2	TogoVar
ARHGEF5_chr7_144350402_144385632	144358784	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(23): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01993.hp1 HG02015.hp1 HG02148.hp2 HG02293.hp1 HG02698.hp1 HG03490.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 NA18906.hp1 NA19002.hp1 NA20805.hp2 NA20905.hp2	a0004 a0007 a0004 a0007	a0004c0003 a0007c0041 a0007c0042 a0004c0003 a0007c0041 a0007c0042	a0004c0003t0001 a0007c0041t0001 a0007c0042t0001 a0004c0003t0001 a0007c0041t0001 a0007c0042t0001	a0004c0003t0001g0002 a0004c0003t0001g0040 a0004c0003t0001g0041 others(9): Show a0004c0003t0001g0002 a0004c0003t0001g0040 a0004c0003t0001g0041 a0004c0003t0001g0043 a0004c0003t0001g0154 a0004c0003t0001g0155 a0004c0003t0001g0168 a0004c0003t0001g0169 a0004c0003t0001g0180 a0004c0003t0001g0181 a0007c0041t0001g0002 a0007c0042t0001g0179	26	288	0.0903	-22	c.-13 others(39): Show c.-13+3284_-13+3305delGTGTGTGTGTGTGTGTGTACAC	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	1/14			chr7	TogoVar
ARHGEF6_chrX_136660550_136785932	136686621	TACACATA others(15): Show TACACATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG02896.hp2 others(2): Show HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0207	5	247	0.0202	-22	c.124 others(39): Show c.1246-820_1246-799delGTATATATATATATATATGTGT	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	11/21			chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136727305	GTCTTTCT others(15): Show GTCTTTCTTTCTTTCTTTCTTTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00741.hp2 others(15): Show HG00423.hp1 HG00438.hp1 HG00741.hp2 HG01074.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01993.hp2 HG02080.hp1 HG02148.hp1 HG02300.hp1 HG03239.hp1 HG04228.hp1 NA18944.hp1 NA18960.hp1 NA19005.hp1 NA19077.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0005c0009t0006	a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0061 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0186 a0001c0001t0001g0231 a0001c0001t0003g0236 a0001c0001t0003g0241 a0001c0001t0003g0246 a0001c0001t0004g0096 a0001c0001t0017g0188 a0005c0009t0006g0086	18	247	0.0729	-22	c.732 others(39): Show c.732+4775_732+4796delAAAAGAAAGAAAGAAAGAAAGA	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	6/21			chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136727373	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0064 a0001c0001t0009g0064	1	247	0.0041	-22	c.732 others(39): Show c.732+4707_732+4728delAAGAAAGAAAGAAAGAAAGAAA	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	6/21			chrX	TogoVar
ARID1B_chr6_156772378_157215779	156906546	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0015 a0010c0015t0002g0015	1	150	0.0067	-22	c.213 others(41): Show c.2136+5029_2136+5050delAAAAAAAAAAAAAAAAAAAAAA	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	156934912	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02257.hp2 HG02572.hp2 others(1): Show HG01346.hp1 HG02257.hp2 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0129 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0129 a0001c0001t0001g0145	4	150	0.0267	-22	c.213 others(39): Show c.2137-525_2137-504delTATATATATATATATATATATA	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157004890	CTTTTTTC others(15): Show CTTTTTTCTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	150	0.0067	-22	c.224 others(43): Show c.2247+69321_2247+69342delCTTTTTTTTTTTTTTTTTTTTT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157039672	TCCTTCCT others(15): Show TCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp1 NA18522.hp1 HG00280.hp2 HG01884.hp1 NA18522.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0001c0002 a0019c0027 a0001c0001 a0001c0002 a0019c0027	a0001c0001t0001 a0001c0002t0001 a0019c0027t0001 a0001c0001t0001 a0001c0002t0001 a0019c0027t0001	a0001c0001t0001g0120 a0001c0002t0001g0113 a0019c0027t0001g0112 a0001c0001t0001g0120 a0001c0002t0001g0113 a0019c0027t0001g0112	3	150	0.0200	-22	c.224 others(43): Show c.2248-44989_2248-44968delCCTTCCTTCCTTCCTTCCTTCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19			chr6	TogoVar
ARID2_chr12_45724706_45913037	45824331	GGAAAAAC others(15): Show GGAAAAACTGAAAGCTTTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	318	0.0031	-22	c.705 others(39): Show c.705+2857_705+2878delGCTTTTCCTTGAAAAACTGAAA	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID3B_chr15_74536220_74603131	74570462	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG02257.hp1 others(8): Show HG00140.hp2 HG00735.hp2 HG02257.hp1 HG02559.hp1 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03486.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0019 others(7): Show a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0019 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143	11	338	0.0325	-22	c.553 others(39): Show c.553-2386_553-2365delAAAAAAAAAAAAAAAAAAAAAA	ARID3B	ENSG00000179361.18	transcript	ENST00000346246.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARID3B_chr15_74536220_74603131	74579828	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02015.hp2 HG02080.hp1 others(18): Show HG00438.hp1 HG02015.hp2 HG02080.hp1 HG02155.hp2 HG03492.hp2 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp2 NA18997.hp1 NA19001.hp1 NA19009.hp1 NA19010.hp2 NA19072.hp2 NA19080.hp2 NA19082.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0012 a0001c0002 a0006c0012	a0001c0002t0001 a0006c0012t0001 a0001c0002t0001 a0006c0012t0001	a0001c0002t0001g0007 a0001c0002t0001g0182 a0001c0002t0001g0189 others(17): Show a0001c0002t0001g0007 a0001c0002t0001g0182 a0001c0002t0001g0189 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0292 a0001c0002t0001g0293 a0006c0012t0001g0232	21	338	0.0621	-22	c.697 others(39): Show c.697+6648_697+6669delTGTGTGTGTGTGTGTGTGTGTG	ARID3B	ENSG00000179361.18	transcript	ENST00000346246.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARID4B_chr1_235161902_235333179	235173771	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	272	0.0037	-22	c.366 others(41): Show c.3665-1029_3665-1008delATATATATATATATATATATAT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	22/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236492	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	272	0.0037	-22	c.586 others(39): Show c.586-2022_586-2001delCACACACACACACACACACACA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID5B_chr10_61896699_62101944	61940955	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp1 HG02818.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0079 a0001c0004t0001g0231 a0001c0001t0001g0079 a0001c0004t0001g0231	2	242	0.0083	-22	c.502 others(37): Show c.502+549_502+570delATATATATATTTTTTTTTTTTT	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARID5B_chr10_61896699_62101944	62027285	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01884.hp1 HG01168.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0095 a0001c0001t0003g0045 a0001c0001t0002g0095 a0001c0001t0003g0045	2	242	0.0083	-22	c.734 others(41): Show c.734-23583_734-23562delTTTTTTTTTTTTTTTTTTTTTT	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARIH1_chr15_72469330_72607987	72603759	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG02615.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0067 a0001c0001t0066 a0001c0001t0067	a0001c0001t0066g0085 a0001c0001t0067g0087 a0001c0001t0066g0085 a0001c0001t0067g0087	2	262	0.0076	-22	c.20 others(35): Show c.20468_*20489delTTTTTTTTTTTTTTTTTTTTTT	ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding		773		chr15	TogoVar
ARIH2_chr3_48913842_48991382	48933235	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	202	0.0050	-22	c.255 others(39): Show c.255+5454_255+5475delTGTGTGTGTGTGTGTGTGTGTG	ARIH2	ENSG00000177479.20	transcript	ENST00000356401.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARK2C_chr18_46329018_46468140	46406889	CTTACCCT others(15): Show CTTACCCTGATGGGACACATAAG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03942.hp1 HG02735.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0041 a0001c0001t0006 a0001c0001t0041	a0001c0001t0006g0109 a0001c0001t0041g0066 a0001c0001t0006g0109 a0001c0001t0041g0066	2	260	0.0077	-22	c.62- others(39): Show c.62-26300_62-26279delTTACCCTGATGGGACACATAAG	ARK2C	ENSG00000141622.14	transcript	ENST00000269439.12	protein_coding	1/7			chr18	TogoVar
ARL15_chr5_53878942_54315573	53899347	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	206	0.0049	-22	c.463 others(41): Show c.463-12656_463-12635delTTTTTTTTTTTTTTTTTTTTTT	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ARL15_chr5_53878942_54315573	53979829	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG01169.hp1 others(22): Show HG00642.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG02015.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02717.hp1 HG02735.hp2 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG03704.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0053 a0001c0001t0001g0187 a0001c0001t0001g0194 others(22): Show a0001c0001t0001g0053 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0002g0050 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0145 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0004g0119 a0001c0001t0004g0123 a0001c0001t0008g0127 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0044	25	206	0.1214	-22	c.463 others(41): Show c.463-93138_463-93117delCACACACACACACACACACACA	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ARL15_chr5_53878942_54315573	54246825	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG03098.hp1 others(1): Show HG02615.hp2 HG02630.hp2 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0133 a0001c0001t0002g0134 a0001c0002t0001g0021 others(1): Show a0001c0001t0001g0133 a0001c0001t0002g0134 a0001c0002t0001g0021 a0001c0002t0001g0034	4	206	0.0194	-22	c.48+ others(39): Show c.48+63585_48+63606delCTGTGTGTGTGTGTGTGTGTGT	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	1/4			chr5	TogoVar
ARL6_chr3_97759758_97806229	97765211	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	364	0.0028	-22	c.-28 others(37): Show c.-28+253_-28+274delGTGTGTGTGTGTGTGTGTGTGT	ARL6	ENSG00000113966.11	transcript	ENST00000463745.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMC8_chr3_138182301_138303373	138201436	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	246	0.0041	-22	c.46- others(37): Show c.46-8361_46-8340delTTTTTTTTTTTTTTTTTTTTTT	ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMC8_chr3_138182301_138303373	138229132	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp2 HG03453.hp2 others(1): Show HG02258.hp2 HG03041.hp2 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018	4	246	0.0163	-22	c.528 others(37): Show c.528+124_528+145delGTATATATATATATATATATAT	ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMH3_chr10_101840599_102061173	101944261	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	262	0.0038	-22	c.170 others(41): Show c.1706-4345_1706-4324delCTCTCTCTCTATATATATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar
ARMH3_chr10_101840599_102061173	101944267	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	262	0.0038	-22	c.170 others(41): Show c.1706-4351_1706-4330delCTCTCTCTCTCTCTCTATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar
ARMH4_chr14_57995761_58157213	58015892	AAATAAAA others(15): Show AAATAAAATTTAAATTTAAATTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0020 a0004c0004t0005g0020	1	258	0.0039	-22	c.209 others(41): Show c.2090-3764_2090-3743delAAATTTAAATTTAAATTTTATT	ARMH4	ENSG00000139971.15	transcript	ENST00000267485.7	protein_coding	5/7			chr14	TogoVar
ARNT2_chr15_80399382_80602933	80510590	GGAGGCCA others(15): Show GGAGGCCAAGGCGGGCAGATCAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(60): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp2 HG02056.hp1 HG02080.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18957.hp2 NA18973.hp1 NA19002.hp1 NA19063.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0034 a0001c0001t0045 a0001c0001t0047 a0001c0001t0053 a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0001c0002t0016 a0001c0002t0024 a0001c0002t0026 a0001c0006t0004 a0001c0010t0022 a0003c0005t0003	a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0115 others(60): Show a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0002g0020 a0001c0001t0002g0121 a0001c0001t0002g0194 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0003g0021 a0001c0001t0003g0030 a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0076 a0001c0001t0003g0123 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0226 a0001c0001t0003g0252 a0001c0001t0005g0003 a0001c0001t0005g0080 a0001c0001t0005g0097 a0001c0001t0005g0120 a0001c0001t0006g0010 a0001c0001t0006g0092 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0012g0158 a0001c0001t0012g0243 a0001c0001t0012g0244 a0001c0001t0012g0246 a0001c0001t0018g0055 a0001c0001t0020g0248 a0001c0001t0025g0009 a0001c0001t0028g0122 a0001c0001t0030g0129 a0001c0001t0034g0206 a0001c0001t0045g0218 a0001c0001t0047g0006 a0001c0001t0053g0247 a0001c0002t0001g0032 a0001c0002t0001g0104 a0001c0002t0001g0233 a0001c0002t0001g0249 a0001c0002t0004g0047 a0001c0002t0004g0052 a0001c0002t0015g0215 a0001c0002t0016g0219 a0001c0002t0016g0236 a0001c0002t0024g0234 a0001c0002t0026g0186 a0001c0006t0004g0161 a0001c0010t0022g0144 a0003c0005t0003g0128	63	268	0.2351	-22	c.725 others(39): Show c.725+2337_725+2358delCCAAGGCGGGCAGATCACGAGG	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARPP21_chr3_35634525_35799486	35768079	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01169.hp1 others(1): Show HG00140.hp2 HG01168.hp1 HG01169.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0042	4	266	0.0150	-22	c.213 others(43): Show c.2137+24153_2137+24174delGTGTGTGTGTGTGTGTGTGTGT	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRB2_chr17_4705632_4726497	4715478	CACACACA others(15): Show CACACACAGACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	432	0.0023	-22	c.54+ others(35): Show c.54+443_54+464delGACACACACACACATACACACA	ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARRDC1_chr9_137600686_137620360	137601209	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG02155.hp2 others(2): Show HG01928.hp1 HG01928.hp2 HG02155.hp2 HG02293.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0060	5	338	0.0148	-22	c.-45 others(33): Show c.-4508_-4487delTATATATATATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4476		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601239	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01496.hp2 HG01934.hp1 others(5): Show HG00597.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02129.hp2 HG02258.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0063 a0001c0001t0004g0088	8	338	0.0237	-22	c.-44 others(33): Show c.-4478_-4457delTATATATATATATATATATATT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4446		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601241	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01993.hp1 NA18973.hp1 HG00438.hp1 HG01993.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	338	0.0089	-22	c.-44 others(33): Show c.-4476_-4455delTATATATATATATATATATTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4444		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601243	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	338	0.0030	-22	c.-44 others(33): Show c.-4474_-4453delTATATATATATATATATTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4442		chr9	TogoVar
ARSB_chr5_78772209_78990310	78834607	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02056.hp2 HG02071.hp1 others(9): Show HG00544.hp2 HG02056.hp2 HG02071.hp1 HG02155.hp2 HG02738.hp1 NA18947.hp1 NA18962.hp1 NA18988.hp1 NA19000.hp2 NA19010.hp1 NA19063.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0014 a0001c0003t0022 a0001c0003t0060 a0001c0021t0003	a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 others(9): Show a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0002g0320 a0001c0003t0002g0338 a0001c0003t0003g0050 a0001c0003t0003g0334 a0001c0003t0005g0060 a0001c0003t0014g0220 a0001c0003t0022g0229 a0001c0003t0060g0210 a0001c0021t0003g0358	12	360	0.0333	-22	c.121 others(41): Show c.1213+4727_1213+4748delTATATATATATATATATATATA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSF_chrX_3036471_3117727	3037140	AAAATATA others(15): Show AAAATATATATAATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	193	0.0052	-22	c.-45 others(33): Show c.-4551_-4530delAAATATATATAATATATATAAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4330		chrX	TogoVar
ARSG_chr17_68286495_68425814	68352142	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00738.hp1 others(52): Show HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03139.hp2 HG03453.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18985.hp2 NA18994.hp2 NA19010.hp2 NA19030.hp1 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19081.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010	a0001c0001 a0001c0009 a0001c0024 others(8): Show a0001c0001 a0001c0009 a0001c0024 a0002c0002 a0002c0014 a0003c0004 a0004c0006 a0004c0023 a0006c0008 a0009c0016 a0010c0029	a0001c0001t0002 a0001c0009t0001 a0001c0024t0001 others(10): Show a0001c0001t0002 a0001c0009t0001 a0001c0024t0001 a0002c0002t0001 a0002c0002t0002 a0002c0014t0001 a0003c0004t0002 a0004c0006t0002 a0004c0023t0002 a0006c0008t0001 a0006c0008t0002 a0009c0016t0002 a0010c0029t0002	a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0219 others(52): Show a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0219 a0001c0009t0001g0259 a0001c0024t0001g0011 a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0047 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0171 a0002c0002t0001g0178 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0192 a0002c0002t0001g0196 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0246 a0002c0002t0001g0286 a0002c0002t0002g0075 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0104 a0002c0002t0002g0111 a0002c0002t0002g0116 a0002c0002t0002g0119 a0002c0002t0002g0144 a0002c0002t0002g0180 a0002c0002t0002g0216 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0227 a0002c0002t0002g0302 a0002c0014t0001g0004 a0003c0004t0002g0079 a0003c0004t0002g0190 a0004c0006t0002g0157 a0004c0023t0002g0155 a0006c0008t0001g0021 a0006c0008t0001g0059 a0006c0008t0001g0129 a0006c0008t0001g0188 a0006c0008t0001g0240 a0006c0008t0002g0078 a0006c0008t0002g0089 a0006c0008t0002g0102 a0006c0008t0002g0222 a0009c0016t0002g0096 a0009c0016t0002g0136 a0010c0029t0002g0217	55	304	0.1809	-22	c.566 others(37): Show c.566+483_566+504delGAGAGAGAGAGAGAGACAGAGA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68387079	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0041 a0004c0006t0001g0041	1	304	0.0033	-22	c.109 others(41): Show c.1091+1926_1091+1947delCACACACACACACACACACACA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3037140	AAAATATA others(15): Show AAAATATATATAATATATATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA18962.hp1 HG06807.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0124 a0001c0001t0001g0058 a0001c0001t0001g0124	2	248	0.0081	-22	c.37 others(33): Show c.3756_*3777delAAATATATATAATATATATAAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		3030		chrX	TogoVar
ARSJ_chr4_113895284_113984647	113924056	AATATATA others(15): Show AATATATATAAATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115	3	350	0.0086	-22	c.399 others(41): Show c.399-20403_399-20382delATTTATATATATTTATATATAT	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ARSJ_chr4_113895284_113984647	113924066	AATATATA others(15): Show AATATATATAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18949.hp2 HG03453.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0181 a0001c0001t0002g0188	2	350	0.0057	-22	c.399 others(41): Show c.399-20413_399-20392delATATATATATATTTATATATAT	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ARSJ_chr4_113895284_113984647	113961895	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02622.hp1 HG02717.hp1 others(4): Show HG00558.hp2 HG02622.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0029	a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 others(4): Show a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0005g0116 a0001c0001t0006g0046 a0001c0001t0029g0047	7	350	0.0200	-22	c.398 others(41): Show c.398+16520_398+16541delCACACACACACACACACACAGA	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ART4_chr12_14820569_14848526	14830649	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02132.hp1 HG00597.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0179 a0001c0001t0001g0191	2	380	0.0053	-22	c.854 others(39): Show c.854-1209_854-1188delTATATATATATATATATATATA	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
AS3MT_chr10_102864470_102906899	102885495	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	362	0.0028	-22	c.886 others(39): Show c.886-5018_886-4997delTTTTTTTTTTTTTTTTTTTTTT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH1_chr8_18050992_18089107	18078892	CTCTCCCT others(15): Show CTCTCCCTGCCCTTCCCTACCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02647.hp1 others(8): Show HG02258.hp1 HG02559.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0003c0003t0005 a0002c0002t0003 a0003c0003t0005	a0002c0002t0003g0025 a0002c0002t0003g0266 a0002c0002t0003g0267 others(4): Show a0002c0002t0003g0025 a0002c0002t0003g0266 a0002c0002t0003g0267 a0003c0003t0005g0024 a0003c0003t0005g0263 a0003c0003t0005g0264 a0003c0003t0005g0265	11	420	0.0262	-22	c.79- others(37): Show c.79-3327_79-3306delAAGGTAGGGAAGGGCAGGGAGA	ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	1/13			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049308	TGGGGGGC others(15): Show TGGGGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	308	0.0033	-22	c.54 others(33): Show c.5401_*5422delCATGTGTTCCCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2795		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049598	TGGAGGGC others(15): Show TGGAGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	1	308	0.0033	-22	c.51 others(33): Show c.5111_*5132delCATGTGTTCCCCTCTGCCCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2505		chr8	TogoVar

Search by Variant

Search

Search Results (Total: 9631 hits)