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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ABCC6_chr16_16144565_16228494	16166454	C C	CTAGAGGA others(3): Show CTAGAGGATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG02572.hp2 HG02970.hp1	a0001 a0004 a0001 a0004	a0001c0065 a0004c0078 a0001c0065 a0004c0078	a0001c0065t0001 a0004c0078t0001 a0001c0065t0001 a0004c0078t0001	a0001c0065t0001g0312 a0004c0078t0001g0199 a0001c0065t0001g0312 a0004c0078t0001g0199	2	357	0.0056	10	c.299 others(27): Show c.2996-522_2996-521insATATCCTCTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	22/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16174759	A A	ACCCCCCC others(3): Show ACCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00741.hp2 others(24): Show HG00099.hp2 HG00408.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01993.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02717.hp2 HG03239.hp2 HG03486.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18944.hp1 NA18952.hp1 NA18977.hp1 NA18977.hp2 NA19000.hp1 NA19009.hp1 NA19077.hp1	a0001 a0016 a0020 others(3): Show a0001 a0016 a0020 a0035 a0036 a0038	a0001c0001 a0001c0004 a0001c0006 others(8): Show a0001c0001 a0001c0004 a0001c0006 a0001c0043 a0001c0052 a0001c0064 a0016c0036 a0020c0032 a0035c0062 a0036c0066 a0038c0069	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0006t0001 a0001c0006t0009 a0001c0043t0001 a0001c0052t0001 a0001c0064t0005 a0016c0036t0001 a0020c0032t0001 a0035c0062t0001 a0036c0066t0001 a0038c0069t0001	a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0142 others(24): Show a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0235 a0001c0001t0001g0270 a0001c0001t0001g0326 a0001c0001t0001g0336 a0001c0001t0005g0206 a0001c0004t0001g0034 a0001c0006t0001g0189 a0001c0006t0001g0286 a0001c0006t0001g0297 a0001c0006t0001g0330 a0001c0006t0009g0285 a0001c0043t0001g0236 a0001c0052t0001g0283 a0001c0064t0005g0324 a0016c0036t0001g0344 a0020c0032t0001g0149 a0035c0062t0001g0315 a0036c0066t0001g0052 a0038c0069t0001g0015	27	357	0.0756	10	c.266 others(29): Show c.2666+1151_2666+1152insGGGGGGGGGG	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	20/30			chr16	TogoVar
ABCC8_chr11_17387885_17481845	17434984	C C	CGCGCGTG others(3): Show CGCGCGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	330	0.0030	10	c.163 others(29): Show c.1631-2741_1631-2740insACACACGCGC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17434984	C C	CGCGTGTG others(3): Show CGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00673.hp1 others(41): Show HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01934.hp2 HG01978.hp1 HG02027.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG03017.hp1 HG03225.hp2 HG03688.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18949.hp1 NA18955.hp2 NA18959.hp2 NA18971.hp2 NA18993.hp2 NA18995.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19055.hp1 NA19067.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(11): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0013 a0001c0014 a0001c0019 a0001c0043 a0002c0005 a0002c0016 a0002c0047 a0003c0029 a0004c0041 a0005c0057	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(11): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0013t0001 a0001c0014t0001 a0001c0019t0001 a0001c0043t0001 a0002c0005t0001 a0002c0016t0001 a0002c0047t0001 a0003c0029t0001 a0004c0041t0001 a0005c0057t0001	a0001c0001t0001g0076 a0001c0003t0001g0087 a0001c0003t0001g0094 others(41): Show a0001c0001t0001g0076 a0001c0003t0001g0087 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0164 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0006t0001g0079 a0001c0006t0001g0080 a0001c0006t0001g0083 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0001g0096 a0001c0006t0001g0097 a0001c0006t0001g0102 a0001c0006t0001g0103 a0001c0006t0001g0107 a0001c0007t0001g0128 a0001c0013t0001g0175 a0001c0014t0001g0084 a0001c0014t0001g0320 a0001c0014t0001g0322 a0001c0019t0001g0121 a0001c0019t0001g0280 a0001c0019t0001g0303 a0001c0019t0001g0321 a0001c0043t0001g0093 a0002c0005t0001g0110 a0002c0005t0001g0111 a0002c0005t0001g0114 a0002c0005t0001g0122 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0161 a0002c0005t0001g0283 a0002c0016t0001g0098 a0002c0047t0001g0112 a0003c0029t0001g0325 a0004c0041t0001g0145 a0005c0057t0001g0089	44	330	0.1333	10	c.163 others(29): Show c.1631-2741_1631-2740insACACACACGC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17434984	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0158 a0001c0053t0001g0158	1	330	0.0030	10	c.163 others(29): Show c.1631-2750_1631-2741dupACACACACAC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17450260	C C	CTTTCTTT others(3): Show CTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0081 a0001c0008t0001g0081	1	330	0.0030	10	c.117 others(29): Show c.1177-1590_1177-1589insAAGAAAGAAA	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	7/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17467042	C C	CCACACAC others(3): Show CCACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00735.hp1 others(27): Show HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01168.hp2 HG01496.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02523.hp2 HG02896.hp2 HG03516.hp1 HG03704.hp1 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18955.hp2 NA18963.hp2 NA18983.hp1 NA18987.hp2 NA18993.hp2 NA18995.hp2 NA19005.hp2 NA19055.hp1 NA19065.hp2 NA19067.hp1 NA19080.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0010 a0015	a0001c0001 a0001c0003 a0001c0004 others(15): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0013 a0001c0020 a0001c0025 a0001c0051 a0002c0005 a0002c0047 a0004c0038 a0004c0040 a0004c0041 a0007c0039 a0010c0066 a0015c0037	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(15): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0003 a0001c0013t0001 a0001c0020t0001 a0001c0025t0001 a0001c0051t0001 a0002c0005t0001 a0002c0047t0001 a0004c0038t0001 a0004c0040t0001 a0004c0041t0001 a0007c0039t0001 a0010c0066t0001 a0015c0037t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0003t0001g0030 others(27): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0003t0001g0030 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0115 a0001c0003t0001g0162 a0001c0003t0001g0309 a0001c0004t0001g0270 a0001c0006t0001g0083 a0001c0006t0001g0107 a0001c0007t0001g0128 a0001c0007t0001g0163 a0001c0009t0003g0015 a0001c0013t0001g0175 a0001c0020t0001g0043 a0001c0020t0001g0156 a0001c0025t0001g0056 a0001c0051t0001g0127 a0002c0005t0001g0110 a0002c0005t0001g0111 a0002c0005t0001g0114 a0002c0005t0001g0161 a0002c0047t0001g0112 a0004c0038t0001g0108 a0004c0040t0001g0113 a0004c0041t0001g0145 a0007c0039t0001g0109 a0010c0066t0001g0174 a0015c0037t0001g0104	30	330	0.0909	10	c.412 others(27): Show c.412+3049_412+3058dupTGTGTGTGTG	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	3/38			chr11	TogoVar
ABCC9_chr12_21792389_21946426	21816036	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02129.hp1 HG01168.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0065 a0001c0001t0001g0086	2	212	0.0094	10	c.389 others(27): Show c.3893-153_3893-144dupAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	33/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21834786	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	212	0.0047	10	c.356 others(29): Show c.3566+3282_3566+3291dupGTGTGTGTGT	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	30/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21834786	T T	TATACACA others(3): Show TATACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02630.hp1 others(2): Show HG02258.hp2 HG02559.hp2 HG02630.hp1 HG03209.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0013 a0002c0007t0001 a0001c0001t0001 a0001c0001t0013 a0002c0007t0001	a0001c0001t0001g0021 a0001c0001t0001g0083 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0013g0092 a0002c0007t0001g0049	5	212	0.0236	10	c.356 others(29): Show c.3566+3291_3566+3292insGTGTGTGTAT	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	30/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915506	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	212	0.0047	10	c.816 others(25): Show c.816+161_816+162insAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915508	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	212	0.0047	10	c.816 others(25): Show c.816+159_816+160insAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915510	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20300.hp1 HG02258.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0083 a0001c0001t0001g0022 a0001c0001t0001g0083	2	212	0.0094	10	c.816 others(25): Show c.816+157_816+158insAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915512	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	212	0.0047	10	c.816 others(25): Show c.816+155_816+156insAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02622.hp2 HG02723.hp1 others(3): Show HG01175.hp2 HG02622.hp2 HG02723.hp1 HG03491.hp2 NA19063.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0124 a0001c0001t0001g0159 a0001c0001t0002g0126 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0159 a0001c0001t0002g0126 a0001c0001t0009g0129 a0001c0004t0001g0135 a0001c0005t0001g0016	6	212	0.0283	10	c.816 others(25): Show c.816+144_816+153dupAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCD3_chr1_94413389_94523663	94421562	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01978.hp1 HG02683.hp1 others(5): Show HG00741.hp2 HG01978.hp1 HG02683.hp1 HG03704.hp2 NA18971.hp1 NA19007.hp1 NA19054.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 others(5): Show a0001c0001t0006g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177	8	362	0.0221	10	c.110 others(27): Show c.110+2994_110+3003dupGTGTGTGTGT	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCD3_chr1_94413389_94523663	94438301	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG01167.hp1 others(20): Show HG00609.hp2 HG00741.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02083.hp2 HG02486.hp1 HG02602.hp2 HG02735.hp1 HG03654.hp2 NA18964.hp2 NA18970.hp2 NA18978.hp1 NA18982.hp2 NA19012.hp1 NA19064.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0027 others(20): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0009g0102 a0001c0001t0010g0101 a0001c0001t0014g0191 a0001c0003t0001g0072 a0001c0003t0001g0076 a0001c0003t0001g0078	23	362	0.0635	10	c.110 others(29): Show c.110+19747_110+19756dupCACACACACA	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCD3_chr1_94413389_94523663	94438328	A A	ACACACAC others(3): Show ACACACACACG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	362	0.0028	10	c.110 others(29): Show c.110+19749_110+19750insGCACACACAC	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCD3_chr1_94413389_94523663	94448983	G G	GGCTGATA others(3): Show GGCTGATAGAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02723.hp2 others(3): Show HG01891.hp1 HG02257.hp2 HG02723.hp2 HG02922.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 others(3): Show a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0310 a0001c0001t0001g0311	6	362	0.0166	10	c.111 others(27): Show c.111-9619_111-9618insTAGATGCTGA	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCD3_chr1_94413389_94523663	94456255	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	362	0.0028	10	c.111 others(27): Show c.111-2325_111-2316dupTTTTTTTTTT	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCD4_chr14_74280269_74307934	74303843	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02258.hp1 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0018 a0003c0003t0014 a0003c0003t0018	a0003c0003t0014g0126 a0003c0003t0018g0124 a0003c0003t0014g0126 a0003c0003t0018g0124	2	384	0.0052	10	c.-94 others(19): Show c.-941_-932dupAAAAAAAAAA	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding		910		chr14	TogoVar
ABCF2_chr7_151206484_151232205	151206735	T T	TAGATAGA others(3): Show TAGATAGATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG03654.hp2 others(1): Show HG02451.hp1 HG02976.hp2 HG03654.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0024 a0001c0005t0047 a0001c0003t0002 a0001c0005t0024 a0001c0005t0047	a0001c0003t0002g0067 a0001c0005t0024g0078 a0001c0005t0024g0079 others(1): Show a0001c0003t0002g0067 a0001c0005t0024g0078 a0001c0005t0024g0079 a0001c0005t0047g0077	4	390	0.0103	10	c.73 others(21): Show c.7318_*7319insCTATCTATCT	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding		4748		chr7	TogoVar
ABCF3_chr3_184181199_184199005	184187217	A A	AGTTTTGT others(3): Show AGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02572.hp1 others(11): Show HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0040 a0001c0001t0002g0041 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042	14	416	0.0337	10	c.302 others(25): Show c.302-159_302-150dupGTTTTGTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184191739	G G	GTTCCTTT others(3): Show GTTCCTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG01106.hp1 others(28): Show HG00408.hp2 HG00621.hp1 HG01106.hp1 HG01358.hp2 HG02293.hp1 HG02698.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18941.hp2 NA18969.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp2 NA18986.hp2 NA18991.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19065.hp2 NA19075.hp1 NA19078.hp2 NA19091.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0009c0011t0001 a0001c0001t0001 a0009c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0055 a0009c0011t0001g0004	31	416	0.0745	10	c.156 others(27): Show c.1569+486_1569+487insCCTTTTTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184197845	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02738.hp2 HG02809.hp2 others(4): Show HG01433.hp2 HG02738.hp2 HG02809.hp2 HG03540.hp2 HG03669.hp1 NA19030.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0002t0001g0002	7	416	0.0168	10	c.41 others(21): Show c.4147_*4148insTGTGTGTGTG	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding		3841		chr3	TogoVar
ABCG1_chr21_42214140_42302244	42217679	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0348 a0001c0007t0015g0348	1	354	0.0028	10	c.-15 others(21): Show c.-1584_-1583insTTTTTTTTTT	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding		1460		chr21	TogoVar
ABCG1_chr21_42214140_42302244	42266309	T T	TAAATAAA others(3): Show TAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp2 HG02559.hp2 others(15): Show HG01167.hp1 HG01884.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0012t0004	a0001c0001t0001g0317 a0001c0001t0001g0327 a0001c0001t0001g0336 others(15): Show a0001c0001t0001g0317 a0001c0001t0001g0327 a0001c0001t0001g0336 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0003g0310 a0001c0001t0003g0326 a0001c0001t0004g0098 a0001c0001t0004g0158 a0001c0001t0004g0272 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0311 a0001c0001t0004g0325 a0001c0001t0004g0339 a0001c0001t0007g0058 a0001c0002t0002g0282 a0001c0012t0004g0276	18	354	0.0509	10	c.287 others(27): Show c.287-4742_287-4733dupTAAAATAAAA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42268362	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01934.hp1 others(11): Show HG00408.hp1 HG00558.hp1 HG01934.hp1 HG01975.hp2 HG02015.hp2 HG02040.hp1 HG02486.hp2 HG02615.hp1 HG03491.hp2 HG03492.hp1 NA18952.hp1 NA18981.hp2 NA18994.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0019	a0001c0001t0001g0096 a0001c0001t0001g0213 a0001c0001t0002g0115 others(11): Show a0001c0001t0001g0096 a0001c0001t0001g0213 a0001c0001t0002g0115 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0002t0002g0143 a0001c0003t0001g0250 a0001c0003t0003g0212 a0001c0003t0003g0259 a0001c0003t0005g0048 a0001c0003t0005g0052 a0001c0003t0007g0054 a0001c0003t0008g0117 a0001c0003t0019g0029	14	354	0.0396	10	c.287 others(27): Show c.287-2690_287-2681dupTGTGTGTGTG	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42268388	T T	TGTGTGTG others(3): Show TGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	354	0.0028	10	c.287 others(27): Show c.287-2681_287-2680insTGTGTGCGCG	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42268388	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00741.hp1 others(23): Show HG00099.hp1 HG00099.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01192.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01981.hp1 HG02148.hp2 HG02738.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG03831.hp2 NA18612.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18977.hp2 NA19003.hp2 NA19004.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0004t0003 a0001c0005t0008	a0001c0001t0001g0122 a0001c0001t0001g0177 a0001c0001t0002g0162 others(23): Show a0001c0001t0001g0122 a0001c0001t0001g0177 a0001c0001t0002g0162 a0001c0001t0002g0189 a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0003g0071 a0001c0001t0003g0125 a0001c0001t0003g0136 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0241 a0001c0001t0005g0015 a0001c0001t0006g0056 a0001c0001t0007g0019 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0020g0014 a0001c0004t0003g0074 a0001c0004t0003g0126 a0001c0004t0003g0127 a0001c0005t0008g0131 a0001c0005t0008g0170 a0001c0005t0008g0314	26	354	0.0735	10	c.287 others(27): Show c.287-2681_287-2680insTGTGTGTGCG	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42295333	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	354	0.0028	10	c.177 others(27): Show c.1772+708_1772+717dupAAAAAAAAAA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG2_chr4_88085269_88163639	88115238	C C	CTCTCTCT others(3): Show CTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18968.hp1 NA19083.hp2 HG01243.hp1 NA18968.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0005g0087 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0005g0087	3	350	0.0086	10	c.842 others(25): Show c.842-181_842-180insCAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88125607	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA20905.hp2 HG02602.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0002 a0002c0002t0011	a0002c0002t0002g0044 a0002c0002t0011g0046 a0002c0002t0002g0044 a0002c0002t0011g0046	2	350	0.0057	10	c.532 others(27): Show c.532-3825_532-3816dupTTTTTTTTTT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	5/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88137012	C C	CAATAAAA others(3): Show CAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01099.hp1 others(28): Show HG00099.hp1 HG00099.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG02109.hp2 HG02451.hp1 HG02615.hp1 HG03041.hp2 HG03225.hp1 HG03491.hp2 HG03669.hp2 HG03831.hp2 HG04184.hp2 NA18947.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18988.hp1 NA19062.hp1 NA19074.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 a0002c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0080 a0001c0001t0001g0112 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0264 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0005g0087 a0002c0002t0001g0063 a0002c0002t0001g0171 a0002c0002t0004g0332 a0002c0002t0012g0273 a0002c0004t0001g0248	31	350	0.0886	10	c.203 others(27): Show c.203+2771_203+2780dupTTATTTTATT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	2/15			chr4	TogoVar
ABCG5_chr2_43807472_43843839	43822477	G G	GCCCCCCC others(3): Show GCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0173	1	330	0.0030	10	c.146 others(27): Show c.1463+319_1463+320insGGGGGGGGGG	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	10/12			chr2	TogoVar
ABCG8_chr2_43833971_43887988	43846990	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18906.hp2 HG02486.hp1 NA18906.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0024 a0007c0009t0024	a0007c0009t0024g0005 a0007c0009t0024g0005	2	318	0.0063	10	c.322 others(25): Show c.322+705_322+714dupACACACACAC	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG01109.hp1 others(10): Show HG00323.hp1 HG00438.hp1 HG01109.hp1 HG01255.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp2 HG01981.hp2 HG02735.hp2 HG03017.hp2 HG04184.hp2 HG04228.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0012	a0001c0001 a0001c0008 a0002c0003 others(4): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0005c0006 a0006c0005 a0012c0030	a0001c0001t0014 a0001c0008t0008 a0001c0008t0079 others(8): Show a0001c0001t0014 a0001c0008t0008 a0001c0008t0079 a0002c0003t0006 a0002c0004t0008 a0002c0004t0011 a0002c0004t0084 a0005c0006t0043 a0005c0006t0089 a0006c0005t0027 a0012c0030t0051	a0001c0001t0014g0065 a0001c0008t0008g0274 a0001c0008t0079g0073 others(10): Show a0001c0001t0014g0065 a0001c0008t0008g0274 a0001c0008t0079g0073 a0002c0003t0006g0200 a0002c0004t0008g0265 a0002c0004t0008g0271 a0002c0004t0008g0272 a0002c0004t0011g0188 a0002c0004t0084g0226 a0005c0006t0043g0253 a0005c0006t0089g0062 a0006c0005t0027g0220 a0012c0030t0051g0078	13	318	0.0409	10	c.92 others(21): Show c.9230_*9231insAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD10_chr3_111974026_111998368	111986428	G G	GTTTGTTT others(3): Show GTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(73): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03942.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18946.hp2 NA18954.hp1 NA18961.hp1 NA18964.hp1 NA18974.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19054.hp1 NA19059.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19075.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0002c0002t0002 a0001c0001t0002 a0001c0001t0007 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0036 others(10): Show a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0007g0002 a0002c0002t0002g0002	76	424	0.1793	10	c.438 others(23): Show c.438+67_438+76dupGTTTTGTTTT	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD10_chr3_111974026_111998368	111995389	T T	TTGCAGGT others(3): Show TTGCAGGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	424	0.0024	10	c.36 others(21): Show c.3668_*3669insTGCAGGTGAC	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding		2022		chr3	TogoVar
ABHD12B_chr14_50867053_50909970	50870953	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0022 a0002c0002t0005g0022	1	376	0.0027	10	c.-12 others(21): Show c.-1222_-1221insAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1099		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870957	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0024 a0002c0002t0005g0024	1	376	0.0027	10	c.-12 others(21): Show c.-1218_-1217insAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1095		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870961	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	376	0.0027	10	c.-12 others(21): Show c.-1214_-1213insAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1091		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870961	A A	AAGAAAGA others(3): Show AAGAAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0035 a0001c0013t0003g0035	1	376	0.0027	10	c.-12 others(21): Show c.-1214_-1213insAGAAAGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1091		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50887211	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(44): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00735.hp2 HG01169.hp1 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02965.hp1 HG03130.hp2 HG03471.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18946.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18977.hp2 NA18979.hp1 NA18988.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19083.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0005t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0004 a0001c0005t0008 a0002c0002t0002 a0002c0002t0005 a0002c0002t0012 a0003c0003t0001 a0004c0007t0001	a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0030 others(43): Show a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0172 a0001c0001t0001g0209 a0001c0001t0001g0223 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0274 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0003g0210 a0001c0005t0004g0026 a0001c0005t0004g0159 a0001c0005t0004g0252 a0001c0005t0004g0312 a0001c0005t0008g0215 a0002c0002t0002g0040 a0002c0002t0002g0054 a0002c0002t0002g0084 a0002c0002t0002g0130 a0002c0002t0002g0202 a0002c0002t0002g0232 a0002c0002t0002g0276 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0346 a0002c0002t0002g0348 a0002c0002t0005g0024 a0002c0002t0012g0214 a0003c0003t0001g0067 a0003c0003t0001g0069 a0003c0003t0001g0110 a0003c0003t0001g0254 a0003c0003t0001g0281 a0004c0007t0001g0116 a0004c0007t0001g0243	47	376	0.1250	10	c.700 others(25): Show c.700+536_700+545dupAAAAAAAAAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD12_chr20_25295214_25395835	25313578	A A	AAAAATAA others(3): Show AAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(108): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18946.hp2 NA18952.hp1 NA18960.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18983.hp2 NA18985.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0003t0006 a0001c0004t0004	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 others(107): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0004g0276 a0001c0001t0004g0280 a0001c0001t0005g0001 a0001c0001t0005g0309 a0001c0001t0005g0312 a0001c0001t0008g0002 a0001c0001t0008g0006 a0001c0001t0009g0304 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0010g0290 a0001c0001t0010g0292 a0001c0001t0010g0294 a0001c0001t0010g0295 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0194 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0200 a0001c0002t0003g0208 a0001c0003t0002g0171 a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0247 a0001c0003t0002g0249 a0001c0003t0002g0255 a0001c0003t0002g0265 a0001c0003t0002g0270 a0001c0003t0002g0275 a0001c0003t0002g0283 a0001c0003t0006g0250 a0001c0003t0006g0251 a0001c0003t0006g0268 a0001c0003t0006g0269 a0001c0003t0006g0271 a0001c0003t0006g0272 a0001c0003t0006g0273 a0001c0003t0006g0274 a0001c0004t0004g0277 a0001c0004t0004g0278 a0001c0004t0004g0279	111	316	0.3513	10	c.619 others(27): Show c.619+1337_619+1346dupATTTTATTTT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	6/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322362	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03130.hp2 others(2): Show HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0304 a0001c0001t0009g0305 a0001c0001t0009g0306 others(2): Show a0001c0001t0009g0304 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0009g0308	5	316	0.0158	10	c.422 others(25): Show c.422+953_422+962dupATATATATAT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25387589	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01256.hp1 others(37): Show HG00741.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp2 NA18906.hp1 NA18942.hp2 NA19068.hp1 NA19080.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0010 a0001c0002t0002 others(6): Show a0001c0001t0004 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011	a0001c0001t0004g0225 a0001c0001t0010g0290 a0001c0001t0010g0292 others(37): Show a0001c0001t0004g0225 a0001c0001t0010g0290 a0001c0001t0010g0292 a0001c0001t0010g0294 a0001c0001t0010g0295 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0195 a0001c0002t0002g0203 a0001c0002t0003g0222 a0001c0002t0007g0196 a0001c0002t0011g0301 a0001c0003t0002g0226 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0247 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0002g0258 a0001c0003t0002g0265 a0001c0003t0002g0275 a0001c0003t0002g0283 a0001c0003t0002g0286 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0006g0250 a0001c0003t0006g0274 a0001c0003t0011g0302	40	316	0.1266	10	c.191 others(27): Show c.191+2923_191+2924insTTTTTTTTTT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	1/12			chr20	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02723.hp2 others(3): Show HG01891.hp2 HG02486.hp2 HG02723.hp2 HG02896.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0237 a0001c0001t0001g0274 a0001c0001t0006g0034 others(3): Show a0001c0001t0001g0237 a0001c0001t0001g0274 a0001c0001t0006g0034 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234	6	360	0.0167	10	c.590 others(27): Show c.590+9339_590+9348dupTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTTTGTGT others(3): Show TTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	360	0.0028	10	c.590 others(27): Show c.590+9315_590+9316insTTGTGTGTGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80713354	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02015.hp2 HG02055.hp1 others(26): Show HG01175.hp1 HG02015.hp2 HG02055.hp1 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02257.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02809.hp1 HG03195.hp2 HG03704.hp2 HG03927.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp2 NA18956.hp1 NA18962.hp2 NA18972.hp2 NA18986.hp2 NA18991.hp1 NA19007.hp2 NA19012.hp1 NA19057.hp2 NA19066.hp2 NA19077.hp2 NA19079.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0122 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0122 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0022 a0001c0001t0002g0046 a0001c0001t0003g0137 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0172 a0001c0001t0003g0338 a0001c0001t0007g0243 a0001c0001t0013g0047	29	360	0.0806	10	c.590 others(29): Show c.590+17354_590+17363dupTTTTTTTTTT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)