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
ARHGEF19_chr1_16192854_16217652	16197197	C C	CCAGGAGT others(24): Show CCAGGAGTTCAAGACCAGCCTAGCCAACATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	31	c.13 others(42): Show c.1389_*1390insCTATGTTGGCTAGGCTGGTCTTGAACTCCTG	ARHGEF19	ENSG00000142632.17	transcript	ENST00000270747.8	protein_coding		656		chr1	TogoVar
ARHGEF33_chr2_38884875_38980454	38934557	C C	CCTCCCGC others(24): Show CCTCCCGCTTCTCTCCCTCCCTCCCCCCCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG03209.hp1 others(4): Show HG01243.hp2 HG02055.hp1 HG03209.hp1 HG04115.hp2 NA18956.hp1 NA18982.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0023 a0001c0001t0002g0062 a0001c0001t0002g0223 others(4): Show a0001c0001t0002g0023 a0001c0001t0002g0062 a0001c0001t0002g0223 a0001c0001t0003g0221 a0001c0001t0006g0252 a0001c0001t0006g0254 a0001c0001t0006g0257	7	278	0.0252	31	c.506 others(48): Show c.506-1191_506-1190insCTCTCTCCCGCTTCTCTCCCTCCCTCCC CCC	ARHGEF33	ENSG00000214694.13	transcript	ENST00000409978.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF33_chr2_38884875_38980454	38934589	T T	TCCCGCTT others(24): Show TCCCGCTTCTCTCCCTCCCTCCCCCCTCTCTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	278	0.0036	31	c.506 others(48): Show c.506-1183_506-1153dupCGCTTCTCTCCCTCCCTCCCCCCTCTCT CCC	ARHGEF33	ENSG00000214694.13	transcript	ENST00000409978.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF33_chr2_38884875_38980454	38934608	T T	TCCCCCCT others(24): Show TCCCCCCTCTCTCCCGCTTCTCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 NA19060.hp1 HG02055.hp2 HG02809.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0014t0002 a0001c0001t0002 a0001c0014t0002	a0001c0001t0002g0007 a0001c0001t0002g0232 a0001c0014t0002g0056 a0001c0001t0002g0007 a0001c0001t0002g0232 a0001c0014t0002g0056	3	278	0.0108	31	c.506 others(48): Show c.506-1161_506-1131dupCTCTCTCCCGCTTCTCTCCCTCCCTCCC CCC	ARHGEF33	ENSG00000214694.13	transcript	ENST00000409978.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF33_chr2_38884875_38980454	38934638	T T	TCCCCCCT others(24): Show TCCCCCCTCTCTCCCGCTTCTCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	278	0.0036	31	c.506 others(48): Show c.506-1131_506-1101dupCTCTCTCCCGCTTCTCTCCCTCCCTCCC CCC	ARHGEF33	ENSG00000214694.13	transcript	ENST00000409978.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF6_chrX_136660550_136785932	136663389	A A	ATATATAT others(24): Show ATATATATATATTATATATATAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	247	0.0041	31	c.46 others(42): Show c.4639_*4640insATATATATATTATATATATAATATATATATA	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding		2160		chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136663389	A A	ATATATAT others(24): Show ATATATATATATTATATATATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA20300.hp1 HG01243.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0208 a0003c0003t0002g0212 a0001c0001t0002g0208 a0003c0003t0002g0212	2	247	0.0081	31	c.46 others(42): Show c.4639_*4640insATATATATATAATATATATAATATATATATA	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding		2160		chrX	TogoVar
ARHGEF6_chrX_136660550_136785932	136691236	A A	AAGTGATT others(24): Show AAGTGATTAAGAAAATCTATTTTTTAAATTAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	247	0.0041	31	c.104 others(48): Show c.1047-489_1047-488insATAATTTAAAAAATAGATTTTCTTAATC ACT	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	9/21			chrX	TogoVar
ARID1B_chr6_156772378_157215779	157039322	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0094 a0004c0009t0001g0094	1	150	0.0067	31	c.224 others(52): Show c.2248-45321_2248-45320insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID3A_chr19_921035_980939	973104	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0174 a0005c0018t0174	a0005c0018t0174g0306 a0005c0018t0174g0306	1	364	0.0028	31	c.10 others(42): Show c.1060_*1061insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	9/9	1061	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID4B_chr1_235161902_235333179	235236833	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	272	0.0037	31	c.586 others(48): Show c.586-2342_586-2341insATATATATATATATATATATATTTTTTT TTT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236833	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0239 a0004c0007t0001g0239	1	272	0.0037	31	c.586 others(48): Show c.586-2342_586-2341insATATATATATATATATATATATATTTTT TTT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236833	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	272	0.0037	31	c.586 others(48): Show c.586-2342_586-2341insATATATATATATATATATATATATATTT TTT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236862	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0095 a0001c0009t0001g0095	1	272	0.0037	31	c.586 others(48): Show c.586-2371_586-2370insAAAAATATATATATATATATATATATAT ATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236863	T T	TGTATATA others(24): Show TGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0038	1	272	0.0037	31	c.586 others(48): Show c.586-2372_586-2371insTATATATATATATATATATATATATATA TAC	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235294405	C C	CGGGTTCA others(24): Show CGGGTTCAAGCAATTCTCCCGCTTGAACCCAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG02015.hp2 others(5): Show HG00642.hp2 HG01069.hp2 HG02015.hp2 HG02723.hp1 HG03490.hp2 HG03492.hp2 NA18951.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0218 others(5): Show a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0004t0001g0161	8	272	0.0294	31	c.6+3 others(46): Show c.6+32478_6+32508dupCTGGGTTCAAGCGGGAGAATTGCTTGAACC C	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23			chr1	TogoVar
ARID5B_chr10_61896699_62101944	62099312	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	242	0.0041	31	c.62 others(42): Show c.6282_*6283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding		2369		chr10	TogoVar
ARIH1_chr15_72469330_72607987	72534959	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0028 a0001c0001t0027g0028	1	262	0.0038	31	c.444 others(48): Show c.444-9850_444-9849insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARK2N_chr18_46169034_46271992	46190420	T T	TGAGGCAG others(24): Show TGAGGCAGGAGAATCACTTAACCCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	320	0.0031	31	c.-71 others(50): Show c.-71+16094_-71+16095insCAGGAGAATCACTTAACCCGGGAGGC AGAGG	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL14EPL_chr5_116027472_116064489	116040979	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0083 a0001c0003t0002g0083	1	462	0.0022	31	c.-10 others(48): Show c.-10+8488_-10+8489insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG01123.hp1 HG00408.hp2 HG00544.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0102 a0001c0001t0001g0040 a0001c0001t0001g0102	3	400	0.0075	31	c.554 others(48): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL6IP5_chr3_69079937_69111092	69109540	T T	TTTTTTTG others(24): Show TTTTTTTGAGATGGAGTCTCAGTCTATCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	434	0.0023	31	c.49 others(42): Show c.4904_*4905insTTTTTTGAGATGGAGTCTCAGTCTATCTTCC	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		3449		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	434	0.0023	31	c.62 others(42): Show c.6217_*6218insAAAAAAAAAAAAAAAATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099593	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG02523.hp1 HG00609.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0004 a0001c0001t0041g0066 a0001c0001t0041g0004 a0001c0001t0041g0066	2	390	0.0051	31	c.10 others(42): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041		chr7	TogoVar
ARNT2_chr15_80399382_80602933	80433233	A A	ATTTATTT others(24): Show ATTTATTTTATTTTATTTTATTTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0170 a0001c0002t0004g0170	1	268	0.0037	31	c.32- others(48): Show c.32-17624_32-17623insTATTTTATTTTATTTTATTTTATTTTAT TTT	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 homoSapiens_chm13v2.hp1 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0007	2	332	0.0060	31	c.-16 others(42): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARSG_chr17_68286495_68425814	68352119	G G	GGAGAGAG others(24): Show GGAGAGAGAGAGAGAGAGAGAGACAGAGGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	304	0.0033	31	c.566 others(46): Show c.566+451_566+452insGAGACAGAGGAGAGAGAGAGAGAGAGAGAG A	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3035498	G G	GTGTGTGT others(24): Show GTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	248	0.0040	31	c.21 others(42): Show c.2113_*2114insTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		1388		chrX	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0007 a0001c0002t0001 a0001c0003t0007	a0001c0002t0001g0133 a0001c0003t0007g0170 a0001c0002t0001g0133 a0001c0003t0007g0170	2	210	0.0095	31	c.127 others(50): Show c.127-25080_127-25079insAAAAAAATATATATATATATATATAT ATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0131 a0002c0005t0001g0131	1	210	0.0048	31	c.127 others(50): Show c.127-25080_127-25079insAAAAATATATATATATATATATATAT ATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	210	0.0048	31	c.268 others(50): Show c.2685-2272_2685-2271insATATATATATATATATATATTTTTTT TTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9400233	C C	CTCCCCTC others(24): Show CTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19043.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0046 a0001c0003t0001g0017 a0001c0003t0001g0046	2	210	0.0095	31	c.273 others(48): Show c.2734+177_2734+178insCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	250	0.0040	31	c.110 others(50): Show c.1102-6410_1102-6409insATATATATATATATATATATATATTT TTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0007 a0002c0003t0002g0007	1	314	0.0032	31	c.530 others(50): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(24): Show TTATATATATATATTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0184 a0003c0004t0004g0184	1	314	0.0032	31	c.478 others(50): Show c.4786-1644_4786-1643insTATATATATATATATATAATATATAT ATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(24): Show ATATATATATATATATATACACACACACATAC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19077.hp2 NA18972.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0236 a0001c0001t0002g0210 a0001c0001t0002g0236	2	306	0.0065	31	c.-10 others(48): Show c.-10-1656_-10-1655insATATATATACACACACACATACTATATA TAT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(24): Show ATATATATATATATATATATACACACACATAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02074.hp1 HG02080.hp2 others(3): Show HG02027.hp2 HG02074.hp1 HG02080.hp2 HG03669.hp1 NA18982.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0222 others(1): Show a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0222 a0001c0001t0002g0223	6	306	0.0196	31	c.-10 others(48): Show c.-10-1656_-10-1655insATATATATATACACACACATACTATATA TAT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(24): Show ATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp1 HG03710.hp1 others(4): Show HG00408.hp2 HG01175.hp1 HG03710.hp1 HG03834.hp2 NA18953.hp2 NA18962.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0199 others(4): Show a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0199 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229	7	306	0.0229	31	c.-10 others(48): Show c.-10-1656_-10-1655insATATATATATATACACACATACTATATA TAT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34269946	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	306	0.0033	31	c.77 others(40): Show c.779_*780insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding		603		chr20	TogoVar
ASMT_chrX_1610059_1648081	1624782	C C	CCCCAGGC others(24): Show CCCCAGGCAGATGCTGGGAGGTGGGGGCTGCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	223	0.0045	31	c.374 others(46): Show c.374+476_374+506dupCACCCAGGCAGATGCTGGGAGGTGGGGGCT G	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1647128	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01346.hp1 HG01346.hp2 others(20): Show HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01981.hp1 HG02080.hp1 HG02080.hp2 HG02148.hp2 HG02280.hp1 HG02723.hp1 HG03239.hp2 HG03669.hp2 NA18942.hp1 NA18947.hp1 NA18949.hp2 NA18954.hp2 NA18977.hp2 NA18992.hp2 NA19003.hp1 NA19064.hp1 NA19074.hp1 NA19077.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0003c0005t0001 a0004c0004t0001	a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0068 others(20): Show a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0205 a0001c0001t0002g0201 a0001c0003t0001g0030 a0001c0003t0001g0092 a0001c0003t0002g0155 a0002c0002t0001g0020 a0002c0002t0001g0044 a0002c0002t0001g0055 a0002c0002t0001g0073 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0001g0151 a0002c0002t0001g0185 a0002c0002t0002g0131 a0002c0002t0002g0166 a0002c0006t0001g0104 a0003c0005t0001g0004 a0004c0004t0001g0169	23	223	0.1031	31	c.41 others(42): Show c.4114_*4115insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4048		chrX	TogoVar
ASPSCR1_chr17_81972629_82022406	82016091	C C	CTGGGGCT others(24): Show CTGGGGCTGGGGATGTAAACCAGCCTTAATCA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	366	0.0027	31	c.135 others(48): Show c.1354-385_1354-384insTGGGGCTGGGGATGTAAACCAGCCTTAA TCA	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	12/15			chr17	TogoVar
ASTN2_chr9_116418112_117420057	117060510	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0083 a0001c0003t0014g0083	1	102	0.0098	31	c.127 others(52): Show c.1277-20546_1277-20545insCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(24): Show AAGGAAGGAAGAAAGGAAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	246	0.0041	31	c.66 others(42): Show c.6623_*6624insCCCTTCCCTTCCCTTTCCTTTCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23792962	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	246	0.0041	31	c.264 others(50): Show c.2641-4316_2641-4315insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	19/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0128 a0003c0002t0001g0128	1	278	0.0036	31	c.164 others(50): Show c.1646+1524_1646+1525insATATATATATATATATATATATATTT TTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19043.hp1 NA18998.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0002g0147 a0001c0001t0001g0112 a0001c0001t0002g0147	2	278	0.0072	31	c.320 others(48): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD3C_chr1_1444689_1475163	1445316	G G	GCGGTCTA others(24): Show GCGGTCTACCTCTGCTCGCTCTCTCCATTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 NA18961.hp1 NA19030.hp1 HG02293.hp1 NA18961.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0033 a0001c0003 a0001c0004 a0001c0033	a0001c0003t0004 a0001c0004t0107 a0001c0033t0131 a0001c0003t0004 a0001c0004t0107 a0001c0033t0131	a0001c0003t0004g0186 a0001c0004t0107g0050 a0001c0033t0131g0139 a0001c0003t0004g0186 a0001c0004t0107g0050 a0001c0033t0131g0139	3	410	0.0073	31	c.-53 others(42): Show c.-5368_-5367insCGGTCTACCTCTGCTCGCTCTCTCCATTTCT	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding		4372		chr1	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG01109.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	354	0.0057	31	c.13 others(42): Show c.1391_*1392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding		1311		chr22	TogoVar
ATF6_chr1_161761320_161969070	161777937	T T	TTAATGCT others(24): Show TTAATGCTGAACCCAGCATTAACTCTTCATGC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0029 a0003c0004t0029	a0003c0004t0029g0096 a0003c0004t0029g0096	1	332	0.0030	31	c.83- others(44): Show c.83-307_83-306insTAATGCTGAACCCAGCATTAACTCTTCATGC	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	1/15			chr1	TogoVar

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