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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⚠️ 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
ACTN4_chr19_38642649_38736589	38735843	G G	GGGGCGGG others(13): Show GGGGCGGGGCGGGGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0288 a0001c0001t0017g0288	1	314	0.0032	20	c.64 others(31): Show c.6411_*6412insGGGCGGGGCGGGGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4255		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735843	G G	GGGGCGGG others(13): Show GGGGCGGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	314	0.0032	20	c.64 others(31): Show c.6411_*6412insGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4255		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735878	G G	GGGGCGGG others(13): Show GGGGCGGGGCGGGGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	314	0.0032	20	c.64 others(31): Show c.6446_*6447insGGGCGGGGCGGGGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4290		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735883	G G	GGGGCGGG others(13): Show GGGGCGGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG01257.hp2 others(5): Show HG00423.hp1 HG01106.hp2 HG01257.hp2 HG01433.hp1 HG01943.hp2 HG02080.hp2 HG03688.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0043 a0001c0002t0001g0044 others(5): Show a0001c0002t0001g0035 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0226	8	314	0.0255	20	c.64 others(31): Show c.6451_*6452insGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4295		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735962	G G	GCGGGCGG others(13): Show GCGGGCGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03041.hp2 HG02647.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0003g0194 a0001c0003t0003g0195	2	314	0.0064	20	c.65 others(31): Show c.6530_*6531insCGGGCGGGGCGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4374		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735962	G G	GGGGGCGG others(13): Show GGGGGCGGGGGTTCTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA19090.hp2 NA18981.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0064 a0001c0002t0001g0040 a0001c0002t0001g0064	2	314	0.0064	20	c.65 others(31): Show c.6530_*6531insGGGGCGGGGGTTCTGGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4374		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735972	C C	CGGGGCGG others(13): Show CGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01433.hp2 HG01069.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0008 a0001c0005t0001 a0001c0005t0008	a0001c0005t0001g0304 a0001c0005t0008g0004 a0001c0005t0001g0304 a0001c0005t0008g0004	2	314	0.0064	20	c.65 others(31): Show c.6540_*6541insGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4384		chr19	TogoVar
ACTR1A_chr10_102474229_102507712	102493001	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	388	0.0026	20	c.49- others(35): Show c.49-2408_49-2389dupTTTTTTTTTTTTTTTTTTTT	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/10			chr10	TogoVar
ACTR3C_chr7_150242212_150328545	150248659	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02818.hp1 HG02258.hp1 HG02723.hp2 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0118 a0002c0002t0001g0268 a0002c0002t0004g0133 a0002c0002t0001g0118 a0002c0002t0001g0268 a0002c0002t0004g0133	3	294	0.0102	20	c.38 others(35): Show c.38+288_*38+289insTTTTTTTTTTTTTTTTTTTT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	7/7			chr7	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01361.hp2 others(10): Show HG00621.hp2 HG00639.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG02071.hp1 HG02486.hp1 HG02559.hp2 HG03139.hp2 HG03654.hp2 HG03834.hp1 HG03927.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0018 a0002c0003t0002 a0002c0003t0020	a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0200 others(10): Show a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0200 a0001c0001t0003g0153 a0001c0001t0003g0212 a0001c0002t0001g0075 a0001c0002t0001g0088 a0001c0002t0001g0116 a0001c0002t0003g0115 a0001c0002t0018g0061 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0020g0083	13	216	0.0602	20	c.544 others(37): Show c.544+1872_544+1891dupTTCTTTCTTTCTTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	216	0.0046	20	c.544 others(37): Show c.544+1824_544+1825insCCTTCCTTTCTTTCTTTCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157555101	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0010 a0002c0003t0002g0010	1	216	0.0046	20	c.544 others(35): Show c.544+972_544+991dupAAAAAAAAAAAAAAAAAAAA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0060 a0002c0003t0002g0060	1	216	0.0046	20	c.74- others(35): Show c.74-1451_74-1432dupATATATATATATATATATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157826864	G G	GGGAAAGG others(13): Show GGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	174	0.0058	20	c.-18 others(39): Show c.-182-8325_-182-8306dupTTTCCTTTCCTTTCCTTTCC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	T T	TACACACA others(13): Show TACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0004 a0001c0001t0154g0004	1	410	0.0024	20	c.94 others(31): Show c.9453_*9472dupCACACACACACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9473	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVRL1_chr12_51902504_51928361	51919363	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0123 a0001c0001t0012g0123	1	438	0.0023	20	c.137 others(37): Show c.1377+270_1377+289dupGTGTGTGTGTGTGTGTGTGT	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACY3_chr11_67637555_67655730	67638210	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02109.hp1 HG02145.hp2 others(9): Show HG01934.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0001c0001t0001 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0014 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0103 a0001c0001t0001g0107 a0002c0002t0002g0041 a0002c0002t0004g0046	12	396	0.0303	20	c.44 others(31): Show c.4494_*4513dupATTTATTTATTTATTTATTT	ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding		4344		chr11	TogoVar
ACYP1_chr14_75048243_75069024	75062101	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG03209.hp1 others(1): Show HG02145.hp1 HG02257.hp2 HG03209.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0084 a0001c0001t0001g0126 a0001c0001t0001g0027 a0001c0001t0001g0084 a0001c0001t0001g0126	4	322	0.0124	20	c.84+ others(35): Show c.84+1349_84+1368dupTTTTTTTTTTTTTTTTTTTT	ACYP1	ENSG00000119640.9	transcript	ENST00000238618.8	protein_coding	2/2			chr14	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02572.hp1 HG01071.hp2 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0107 a0001c0002t0005g0039 a0001c0002t0002g0107 a0001c0002t0005g0039	2	272	0.0074	20	c.63- others(37): Show c.63-15945_63-15926dupAAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54052046	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0040 a0001c0002t0013g0040	1	272	0.0037	20	c.155 others(37): Show c.155+1013_155+1032dupAATAAATAAATAAATAAATA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54072513	T T	TTTTCTTC others(13): Show TTTTCTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp2 others(32): Show HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG01175.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG02040.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02683.hp1 HG03831.hp2 NA18940.hp1 NA18941.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19002.hp2 NA19009.hp1 NA19066.hp2 NA19077.hp1 NA19080.hp2 NA19087.hp2 NA19090.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0186 a0001c0001t0001g0188 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0004g0114 a0001c0001t0004g0171 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0205 a0001c0001t0004g0217 a0001c0001t0004g0222 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0251 a0001c0002t0005g0062 a0004c0006t0001g0185	35	272	0.1287	20	c.277 others(39): Show c.277+15154_277+15155insTTCTTCTTTCTTTCTTTCCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54115905	G G	GGGGGGGG others(13): Show GGGGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	272	0.0037	20	c.278 others(39): Show c.278-19548_278-19547insGGGGGGGGGGGGGGGGGGGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6			chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01071.hp1 others(8): Show HG00280.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01993.hp1 HG02004.hp2 HG02572.hp2 HG03130.hp2 NA18522.hp1 NA18906.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(8): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0010g0207	11	272	0.0404	20	c.404 others(39): Show c.404+62916_404+62935dupTTCTTTCTTTCTTTCTTTCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTCTCT others(13): Show CTTTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA19002.hp1 NA19043.hp2 HG01169.hp1 NA19002.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0002c0005t0002 a0001c0002t0002 a0002c0005t0002	a0001c0002t0002g0052 a0001c0002t0002g0067 a0002c0005t0002g0168 a0001c0002t0002g0052 a0001c0002t0002g0067 a0002c0005t0002g0168	3	272	0.0110	20	c.404 others(39): Show c.404+62889_404+62890insTTCTCTTTCTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTGTTT others(13): Show CTTTGTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0083 a0001c0002t0003g0083	1	272	0.0037	20	c.404 others(39): Show c.404+62889_404+62890insTTGTTTCTCTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTGTTT others(13): Show CTTTGTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19070.hp2 HG00408.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0199 a0001c0002t0002g0057 a0001c0001t0001g0199 a0001c0002t0002g0057	2	272	0.0074	20	c.404 others(39): Show c.404+62889_404+62890insTTGTTTCTTTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54207173	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02083.hp2 HG02451.hp1 others(12): Show HG00438.hp1 HG02083.hp2 HG02451.hp1 HG02486.hp2 NA18940.hp2 NA18951.hp1 NA18964.hp2 NA18967.hp2 NA19000.hp2 NA19009.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19085.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0160 a0001c0001t0001g0186 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0160 a0001c0001t0001g0186 a0001c0001t0001g0213 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0205 a0001c0001t0004g0222 a0001c0002t0002g0014 a0001c0002t0002g0122 a0001c0002t0003g0071 a0001c0002t0003g0075	15	272	0.0552	20	c.404 others(39): Show c.404+68439_404+68458dupGTGTGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54219823	G G	GTGTATAT others(13): Show GTGTATATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0083 a0001c0002t0003g0083	1	272	0.0037	20	c.404 others(39): Show c.404+81078_404+81079insATATATATATGTGTGTATGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54219829	A A	ATATATAT others(13): Show ATATATATGTGTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(60): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03239.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18973.hp2 NA18986.hp2 NA18990.hp2 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19062.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 others(60): Show a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0175 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0004g0158 a0001c0001t0004g0238 a0001c0001t0011g0126 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0058 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0095 a0001c0002t0002g0104 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0075 a0001c0002t0003g0077 a0001c0002t0005g0035 a0001c0002t0005g0039 a0001c0002t0008g0092 a0001c0002t0008g0094 a0001c0002t0015g0097 a0001c0002t0016g0055 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0012 a0002c0003t0002g0019 a0002c0003t0002g0021 a0002c0003t0002g0032 a0002c0003t0002g0090 a0002c0003t0005g0015	63	272	0.2316	20	c.404 others(39): Show c.404+81092_404+81093insGTATGTGTGTATATATGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54219833	A A	ATATGTGT others(13): Show ATATGTGTGTATGTGTGTATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01099.hp2 others(1): Show HG00323.hp2 HG01081.hp2 HG01099.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0178	4	272	0.0147	20	c.404 others(39): Show c.404+81092_404+81093insGTATGTGTGTATTTATGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54219881	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	272	0.0037	20	c.404 others(39): Show c.404+81134_404+81135insGTGTGTATATATATATATAT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02257.hp1 NA18944.hp2 others(3): Show HG00544.hp1 HG02257.hp1 NA18944.hp2 NA18963.hp2 NA18977.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0007 a0001c0004 a0002c0002 a0002c0007	a0001c0004t0008 a0002c0002t0003 a0002c0002t0017 others(2): Show a0001c0004t0008 a0002c0002t0003 a0002c0002t0017 a0002c0007t0003 a0002c0007t0008	a0001c0004t0008g0336 a0002c0002t0003g0078 a0002c0002t0003g0173 others(3): Show a0001c0004t0008g0336 a0002c0002t0003g0078 a0002c0002t0003g0173 a0002c0002t0017g0034 a0002c0007t0003g0257 a0002c0007t0008g0404	6	408	0.0147	20	c.108 others(39): Show c.1082-2242_1082-2223dupATATATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188863	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01175.hp2 others(44): Show HG00099.hp2 HG00423.hp2 HG01175.hp2 HG01346.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02135.hp2 HG02293.hp1 HG02886.hp2 HG02965.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18944.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19054.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0013 a0001c0018 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0037 a0001c0003t0001 a0001c0003t0004 a0001c0003t0012 a0001c0003t0023 a0001c0004t0001 a0001c0004t0005 a0001c0005t0002 a0001c0008t0004 a0001c0010t0006 a0001c0013t0001 a0001c0018t0001 a0002c0002t0003 a0002c0002t0009 a0002c0007t0001	a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0081 others(44): Show a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0135 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0271 a0001c0001t0003g0187 a0001c0001t0011g0079 a0001c0001t0011g0080 a0001c0001t0011g0196 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0037g0249 a0001c0003t0001g0109 a0001c0003t0001g0238 a0001c0003t0001g0245 a0001c0003t0004g0335 a0001c0003t0004g0339 a0001c0003t0004g0362 a0001c0003t0004g0367 a0001c0003t0012g0010 a0001c0003t0012g0014 a0001c0003t0023g0008 a0001c0004t0001g0063 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0098 a0001c0004t0001g0125 a0001c0004t0001g0139 a0001c0004t0001g0147 a0001c0004t0001g0234 a0001c0004t0001g0262 a0001c0004t0005g0259 a0001c0005t0002g0103 a0001c0008t0004g0399 a0001c0010t0006g0334 a0001c0013t0001g0056 a0001c0018t0001g0133 a0002c0002t0003g0173 a0002c0002t0009g0294 a0002c0007t0001g0140	47	408	0.1152	20	c.973 others(35): Show c.973-417_973-416insTTTTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19009.hp2 NA18989.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0192 a0001c0001t0004g0350 a0001c0001t0001g0192 a0001c0001t0004g0350	2	408	0.0049	20	c.973 others(35): Show c.973-422_973-421insATTTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAD1_chr4_122374011_122434784	122413851	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp2 HG01517.hp2 others(2): Show HG01109.hp1 HG01515.hp2 HG01517.hp2 HG02109.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0203 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0178 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206	5	376	0.0133	20	c.124 others(39): Show c.1249+1049_1249+1068dupATATATATATATATATATAT	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAD2_chr16_84186157_84202166	84197184	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTATGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 NA20752.hp1 HG01516.hp1 HG01517.hp2 NA20752.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0022 a0004c0009t0002g0022	3	470	0.0064	20	c.21 others(29): Show c.210_*211insTGTGTGTGTGTATGTGTGTG	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding		19		chr16	TogoVar
ADAD2_chr16_84186157_84202166	84197184	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00544.hp1 others(50): Show HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp2 HG02165.hp1 HG02615.hp2 HG02630.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18949.hp2 NA18970.hp2 NA18978.hp2 NA18982.hp2 NA18985.hp2 NA18991.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19074.hp2 NA19087.hp2 NA20300.hp1 NA20805.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0038 a0003c0001 a0004c0009 others(1): Show a0002c0038 a0003c0001 a0004c0009 a0005c0010	a0002c0038t0002 a0003c0001t0001 a0003c0001t0006 others(2): Show a0002c0038t0002 a0003c0001t0001 a0003c0001t0006 a0004c0009t0002 a0005c0010t0006	a0002c0038t0002g0038 a0003c0001t0001g0003 a0003c0001t0001g0004 others(11): Show a0002c0038t0002g0038 a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0017 a0003c0001t0001g0021 a0003c0001t0001g0055 a0003c0001t0001g0073 a0003c0001t0001g0074 a0003c0001t0001g0076 a0003c0001t0001g0077 a0003c0001t0006g0013 a0004c0009t0002g0028 a0004c0009t0002g0044 a0005c0010t0006g0013	53	470	0.1128	20	c.21 others(29): Show c.210_*211insTGTGTGTGTGTGTGTGTGTG	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding		19		chr16	TogoVar
ADAL_chr15_43325672_43359569	43334633	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00738.hp1 others(20): Show HG00099.hp1 HG00280.hp2 HG00738.hp1 HG01071.hp1 HG01496.hp1 HG01978.hp1 HG02155.hp2 HG02257.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG03516.hp1 HG03654.hp1 NA18984.hp2 NA18991.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19076.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0016 a0001c0002t0019 a0001c0006t0004 a0002c0004t0004 a0003c0005t0004	a0001c0001t0002g0040 a0001c0001t0002g0149 a0001c0001t0004g0022 others(14): Show a0001c0001t0002g0040 a0001c0001t0002g0149 a0001c0001t0004g0022 a0001c0001t0004g0050 a0001c0001t0015g0022 a0001c0002t0001g0009 a0001c0002t0001g0024 a0001c0002t0001g0035 a0001c0002t0001g0111 a0001c0002t0001g0203 a0001c0002t0003g0009 a0001c0002t0008g0110 a0001c0002t0016g0009 a0001c0002t0019g0009 a0001c0006t0004g0112 a0002c0004t0004g0113 a0003c0005t0004g0022	23	386	0.0596	20	c.-16 others(37): Show c.-163-300_-163-281dupATATATATATATATATATAT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAL_chr15_43325672_43359569	43357270	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG02293.hp2 others(4): Show HG00741.hp1 HG01071.hp2 HG02293.hp2 HG03669.hp1 HG03704.hp1 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0098 others(4): Show a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0098 a0001c0001t0004g0108 a0001c0001t0004g0133 a0001c0001t0004g0137 a0001c0001t0017g0023	7	386	0.0181	20	c.53 others(31): Show c.5325_*5326insTTTTTTTTTTTTTTTTTTTT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding		2702		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58586912	A A	AGAGTGTG others(13): Show AGAGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	342	0.0029	20	c.10 others(33): Show c.10634_*10635insACACACACACACACACACTC	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding		1896		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTCTTT others(13): Show ATTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0296 a0001c0001t0081g0296	1	342	0.0029	20	c.586 others(37): Show c.586-1045_586-1044insAAAAAAAAAAAAAAAAGAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0026 a0001c0001t0042g0026	1	342	0.0029	20	c.586 others(37): Show c.586-1064_586-1045dupAAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688766	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG03139.hp1 HG02723.hp1 HG02970.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0063 a0001c0001t0065 a0001c0001t0026 a0001c0001t0063 a0001c0001t0065	a0001c0001t0026g0300 a0001c0001t0063g0195 a0001c0001t0065g0194 a0001c0001t0026g0300 a0001c0001t0063g0195 a0001c0001t0065g0194	3	342	0.0088	20	c.207 others(37): Show c.207-6472_207-6453dupTATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(13): Show ATATATATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01516.hp2 HG01517.hp2 others(15): Show HG00323.hp2 HG01516.hp2 HG01517.hp2 HG02683.hp2 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18949.hp1 NA18993.hp1 NA19005.hp2 NA19043.hp2 NA19056.hp2 NA19063.hp1 NA19082.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0030 a0001c0001t0055 a0001c0001t0056 a0001c0001t0064 a0001c0001t0070	a0001c0001t0003g0188 a0001c0001t0003g0238 a0001c0001t0004g0207 others(15): Show a0001c0001t0003g0188 a0001c0001t0003g0238 a0001c0001t0004g0207 a0001c0001t0004g0233 a0001c0001t0004g0259 a0001c0001t0005g0214 a0001c0001t0005g0223 a0001c0001t0005g0240 a0001c0001t0009g0227 a0001c0001t0011g0193 a0001c0001t0011g0231 a0001c0001t0017g0008 a0001c0001t0030g0203 a0001c0001t0030g0221 a0001c0001t0055g0216 a0001c0001t0056g0200 a0001c0001t0064g0257 a0001c0001t0070g0260	18	342	0.0526	20	c.207 others(37): Show c.207-6473_207-6472insGAGATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(13): Show ATATATATATATATATCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG02698.hp1 others(4): Show HG01081.hp2 HG01106.hp2 HG02698.hp1 NA18966.hp2 NA18992.hp2 NA19077.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0249 a0001c0001t0004g0208 a0001c0001t0005g0218 others(4): Show a0001c0001t0003g0249 a0001c0001t0004g0208 a0001c0001t0005g0218 a0001c0001t0009g0205 a0001c0001t0009g0217 a0001c0001t0009g0243 a0001c0001t0009g0261	7	342	0.0205	20	c.207 others(37): Show c.207-6473_207-6472insGAGAGATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(13): Show ATATATATATATATCTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp2 HG02055.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0334 a0001c0001t0016g0336 a0001c0001t0015g0334 a0001c0001t0016g0336	2	342	0.0059	20	c.207 others(37): Show c.207-6473_207-6472insGAGAGAGATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM11_chr17_44753988_44786846	44778713	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp2 HG01081.hp1 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0024 a0001c0002t0003 a0001c0002t0024	a0001c0002t0003g0160 a0001c0002t0024g0193 a0001c0002t0003g0160 a0001c0002t0024g0193	2	336	0.0060	20	c.227 others(37): Show c.2276+471_2276+472insAAAAAAAAAAAAAAAAAAAG	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	25/26			chr17	TogoVar
ADAM12_chr10_126007391_126393477	126051520	T T	TCCAGCCA others(13): Show TCCAGCCAGCCAGCCAGCCAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02280.hp1 HG03017.hp1 others(2): Show HG00140.hp2 HG02280.hp1 HG03017.hp1 HG03453.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0054 a0001c0008 a0002c0054	a0001c0008t0002 a0001c0008t0040 a0002c0054t0001 a0001c0008t0002 a0001c0008t0040 a0002c0054t0001	a0001c0008t0002g0047 a0001c0008t0002g0192 a0001c0008t0002g0219 others(2): Show a0001c0008t0002g0047 a0001c0008t0002g0192 a0001c0008t0002g0219 a0001c0008t0040g0012 a0002c0054t0001g0011	5	252	0.0198	20	c.161 others(39): Show c.1610-1852_1610-1851insCTGGCTGGCTGGCTGGCTGG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126193904	G G	GAAATAAA others(13): Show GAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0021 a0001c0021t0021	a0001c0021t0021g0076 a0001c0021t0021g0077 a0001c0021t0021g0076 a0001c0021t0021g0077	2	252	0.0079	20	c.261 others(39): Show c.261-38619_261-38600dupTATTTTATTTTATTTTATTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126243489	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18980.hp1 NA19065.hp1 NA18972.hp2 NA18980.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0001 a0002c0005 a0001c0014 a0002c0001 a0002c0005	a0001c0014t0010 a0002c0001t0001 a0002c0005t0016 a0001c0014t0010 a0002c0001t0001 a0002c0005t0016	a0001c0014t0010g0064 a0002c0001t0001g0225 a0002c0005t0016g0243 a0001c0014t0010g0064 a0002c0001t0001g0225 a0002c0005t0016g0243	3	252	0.0119	20	c.260 others(39): Show c.260+35406_260+35425dupCACACACACACACACACACA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar

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