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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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARHGEF7_chr13_111110310_111310732	111133763	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG03195.hp1 others(1): Show HG00741.hp2 HG01071.hp1 HG03195.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0002c0009t0002	a0001c0001t0001g0125 a0001c0001t0005g0230 a0001c0001t0007g0057 others(1): Show a0001c0001t0001g0125 a0001c0001t0005g0230 a0001c0001t0007g0057 a0002c0009t0002g0069	4	274	0.0146	-32	c.165 others(51): Show c.165+18092_165+18123delATATATATATATATATATATATATAT ATATAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARID1B_chr6_156772378_157215779	156934912	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01516.hp1 HG02280.hp1 others(1): Show HG00280.hp1 HG01516.hp1 HG02280.hp1 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0107 a0001c0002t0001g0117 others(1): Show a0001c0002t0001g0098 a0001c0002t0001g0107 a0001c0002t0001g0117 a0001c0002t0001g0148	4	150	0.0267	-32	c.213 others(49): Show c.2137-535_2137-504delTATATATATATATATATATATATATATA TATA	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID4A_chr14_58293555_58378876	58331629	ATATTCTT others(25): Show ATATTCTTTCTTGTAAAAAAGACAGTAGGAGTC	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	294	0.0034	-32	c.906 others(49): Show c.906+1465_906+1496delCTTTCTTGTAAAAAAGACAGTAGGAGTC TATT	ARID4A	ENSG00000032219.19	transcript	ENST00000355431.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
ARID4B_chr1_235161902_235333179	235173757	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02572.hp2 others(3): Show HG02257.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp1 HG02897.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 others(3): Show a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123	6	272	0.0221	-32	c.366 others(50): Show c.3665-1025_3665-994delATATATATATATATATATTTTTTTTTT TTTTT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	22/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235226446	CGCTTCCT others(25): Show CGCTTCCTGGGTTCAAGCAATCCTGCTGCCTCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19043.hp2 HG01109.hp1 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0120 a0002c0003t0001g0124 a0002c0003t0001g0120 a0002c0003t0001g0124	2	272	0.0074	-32	c.898 others(49): Show c.898-1703_898-1672delTGAGGCAGCAGGATTGCTTGAACCCAGG AAGC	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	11/23			chr1	TogoVar
ARID5B_chr10_61896699_62101944	61940939	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0228 a0001c0001t0006g0228	1	242	0.0041	-32	c.502 others(47): Show c.502+533_502+564delATATATATATATATATATATATATATTTTT TT	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARID5B_chr10_61896699_62101944	61940943	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	242	0.0041	-32	c.502 others(47): Show c.502+537_502+568delATATATATATATATATATATATTTTTTTTT TT	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARID5B_chr10_61896699_62101944	61940945	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	242	0.0041	-32	c.502 others(47): Show c.502+539_502+570delATATATATATATATATATATTTTTTTTTTT TT	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARL16_chr17_81676187_81688797	81684505	CTCGAAGG others(25): Show CTCGAAGGGTGGAGCCGGCAGTGTTCTCTCTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-32	c.-78 others(41): Show c.-784_-753delCCAGAGAGAACACTGCCGGCTCCACCCTTCGA	ARL16	ENSG00000214087.9	transcript	ENST00000622299.5	protein_coding		709		chr17	TogoVar
ARL2BP_chr16_57240259_57258635	57254386	CAGTCCTC others(25): Show CAGTCCTCTTGCTTAGGACTCCTCCCCAGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	372	0.0027	-32	c.21 others(43): Show c.2120_*2151delAGTCCTCTTGCTTAGGACTCCTCCCCAGTGGG	ARL2BP	ENSG00000102931.8	transcript	ENST00000219204.8	protein_coding		752		chr16	TogoVar
ARL3_chr10_102668731_102719397	102711338	ATATATAT others(25): Show ATATATATATATATATGTATGTATATGTATCTG	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0352 a0001c0001t0003g0352	1	424	0.0024	-32	c.3+2 others(45): Show c.3+2903_3+2934delCAGATACATATACATACATATATATATATATA	ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5			chr10	TogoVar
ARL5C_chr17_39151894_39171161	39163345	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01884.hp1 others(11): Show HG01081.hp2 HG01109.hp1 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02559.hp1 HG02809.hp1 HG02818.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp1 HG06807.hp1 NA19030.hp1	a0005 a0006 a0005 a0006	a0005c0005 a0006c0006 a0005c0005 a0006c0006	a0005c0005t0002 a0006c0006t0002 a0005c0005t0002 a0006c0006t0002	a0005c0005t0002g0004 a0005c0005t0002g0037 a0005c0005t0002g0313 others(7): Show a0005c0005t0002g0004 a0005c0005t0002g0037 a0005c0005t0002g0313 a0005c0005t0002g0314 a0005c0005t0002g0315 a0005c0005t0002g0316 a0006c0006t0002g0282 a0006c0006t0002g0283 a0006c0006t0002g0284 a0006c0006t0002g0285	14	410	0.0342	-32	c.108 others(47): Show c.108-519_108-488delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69110824	CAGAGACA others(25): Show CAGAGACACCATCTCAAAAAAAAAAAAAAAATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	434	0.0023	-32	c.61 others(43): Show c.6189_*6220delAGAGACACCATCTCAAAAAAAAAAAAAAAATA	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4733		chr3	TogoVar
ARL9_chr4_56500791_56529453	56502465	TTATATAT others(25): Show TTATATATATATATATATGTATATATATATACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0005 a0008c0019t0005	a0008c0019t0005g0055 a0008c0019t0005g0055	1	416	0.0024	-32	c.-33 others(43): Show c.-3397_-3366delTATATATATATATATATGTATATATATATACA	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding		3325		chr4	TogoVar
ARMC9_chr2_231193631_231381848	231372699	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp2 NA19090.hp2 NA18944.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0020 a0001c0003t0020 a0001c0001t0020 a0001c0003t0020	a0001c0001t0020g0092 a0001c0003t0020g0055 a0001c0001t0020g0092 a0001c0003t0020g0055	2	200	0.0100	-32	c.11 others(43): Show c.1189_*1220delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	25/25	1189	INFO_REALIGN_3_PRIME	chr2	TogoVar
ARMH3_chr10_101840599_102061173	101944261	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	262	0.0038	-32	c.170 others(51): Show c.1706-4355_1706-4324delCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar
ARMT1_chr6_151447466_151475101	151450564	TCCGGGAG others(25): Show TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03195.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	418	0.0048	-32	c.-19 others(43): Show c.-1981_-1950delCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC	ARMT1	ENSG00000146476.11	transcript	ENST00000367294.4	protein_coding		1901		chr6	TogoVar
ARPP21_chr3_35634525_35799486	35768079	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0118 a0001c0004t0001g0119	2	266	0.0075	-32	c.213 others(53): Show c.2137+24143_2137+24174delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRDC1_chr9_137600686_137620360	137601209	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA19087.hp1 HG01358.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0018	2	338	0.0059	-32	c.-45 others(43): Show c.-4508_-4477delTATATATATATATATATATATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4476		chr9	TogoVar
ARSA_chr22_50617754_50633152	50623898	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(387): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014	a0001c0001 a0001c0018 a0002c0002 others(17): Show a0001c0001 a0001c0018 a0002c0002 a0002c0004 a0002c0012 a0003c0003 a0003c0007 a0003c0016 a0003c0021 a0004c0005 a0005c0006 a0006c0008 a0007c0015 a0007c0019 a0008c0020 a0009c0011 a0011c0014 a0012c0013 a0013c0010 a0014c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(57): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0045 a0001c0001t0052 a0001c0001t0057 a0001c0018t0004 a0002c0002t0001 a0002c0002t0008 a0002c0002t0010 a0002c0002t0024 a0002c0002t0026 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0059 a0002c0004t0008 a0002c0004t0028 a0002c0004t0029 a0002c0012t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0025 a0003c0003t0027 a0003c0003t0035 a0003c0003t0036 a0003c0003t0037 a0003c0003t0038 a0003c0003t0046 a0003c0003t0048 a0003c0007t0002 a0003c0016t0002 a0003c0021t0002 a0004c0005t0001 a0004c0005t0039 a0005c0006t0001 a0006c0008t0003 a0007c0015t0002 a0007c0019t0001 a0008c0020t0001 a0009c0011t0003 a0011c0014t0001 a0012c0013t0001 a0013c0010t0001 a0014c0009t0041	a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0059 others(77): Show a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0059 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0004g0004 a0001c0001t0004g0049 a0001c0001t0010g0031 a0001c0001t0013g0014 a0001c0001t0014g0015 a0001c0001t0015g0022 a0001c0001t0017g0023 a0001c0001t0018g0024 a0001c0001t0022g0029 a0001c0001t0030g0044 a0001c0001t0031g0045 a0001c0001t0032g0048 a0001c0001t0033g0046 a0001c0001t0034g0047 a0001c0001t0045g0071 a0001c0001t0052g0072 a0001c0001t0057g0084 a0001c0018t0004g0053 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0030 a0002c0002t0001g0040 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0083 a0002c0002t0008g0035 a0002c0002t0010g0036 a0002c0002t0010g0041 a0002c0002t0024g0032 a0002c0002t0026g0039 a0002c0002t0049g0076 a0002c0002t0050g0058 a0002c0002t0051g0077 a0002c0002t0053g0078 a0002c0002t0054g0079 a0002c0002t0055g0080 a0002c0002t0056g0081 a0002c0002t0059g0082 a0002c0004t0008g0009 a0002c0004t0028g0042 a0002c0004t0029g0043 a0002c0012t0001g0057 a0003c0003t0002g0002 a0003c0003t0002g0013 a0003c0003t0002g0016 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0094 a0003c0003t0005g0006 a0003c0003t0005g0068 a0003c0003t0005g0087 a0003c0003t0005g0095 a0003c0003t0025g0037 a0003c0003t0027g0038 a0003c0003t0035g0050 a0003c0003t0036g0051 a0003c0003t0037g0052 a0003c0003t0038g0089 a0003c0003t0046g0086 a0003c0003t0048g0090 a0003c0007t0002g0019 a0003c0016t0002g0092 a0003c0021t0002g0100 a0004c0005t0001g0018 a0004c0005t0039g0097 a0005c0006t0001g0017 a0006c0008t0003g0034 a0007c0015t0002g0091 a0007c0019t0001g0098 a0008c0020t0001g0099 a0009c0011t0003g0056 a0011c0014t0001g0075 a0012c0013t0001g0074 a0013c0010t0001g0055 a0014c0009t0041g0054	390	460	0.8478	-32	c.12 others(43): Show c.1215_*1246delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	8/8	1215		chr22	TogoVar
ARSG_chr17_68286495_68425814	68331201	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01243.hp2 others(7): Show HG00323.hp2 HG00738.hp1 HG01243.hp2 HG01361.hp2 HG02615.hp2 HG02647.hp1 HG02886.hp1 NA18522.hp1 NA18747.hp1 NA18985.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0004c0006t0001 a0005c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0213 a0001c0001t0002g0080 others(7): Show a0001c0001t0001g0026 a0001c0001t0001g0213 a0001c0001t0002g0080 a0001c0001t0002g0137 a0001c0009t0001g0200 a0002c0002t0001g0270 a0002c0002t0002g0075 a0004c0006t0001g0201 a0004c0006t0001g0202 a0005c0007t0001g0250	10	304	0.0329	-32	c.219 others(51): Show c.219-12371_219-12340delGTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSJ_chr4_113895284_113984647	113924024	TATATATA others(25): Show TATATATATATAAATATATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	350	0.0029	-32	c.399 others(51): Show c.399-20381_399-20350delTTATATATATTTATATATATTTATAT ATATAT	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ARSJ_chr4_113895284_113984647	113924034	TAAATATA others(25): Show TAAATATATATAAATATATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0023 a0001c0001t0015g0023	1	350	0.0029	-32	c.399 others(51): Show c.399-20391_399-20360delTTATATATATTTATATATATTTATAT ATATTT	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ARSJ_chr4_113895284_113984647	113924056	AATATATA others(25): Show AATATATATAAATATATATAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG03225.hp1 others(1): Show HG02622.hp2 HG02630.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0140 a0001c0001t0002g0156 a0001c0001t0002g0231 others(1): Show a0001c0001t0002g0140 a0001c0001t0002g0156 a0001c0001t0002g0231 a0001c0001t0013g0053	4	350	0.0114	-32	c.399 others(51): Show c.399-20413_399-20382delATATATATATATTTATATATATTTAT ATATAT	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ART1_chr11_3640128_3669416	3663102	ATCTCATC others(25): Show ATCTCATCTCATCTCATCTCATCTCATCTCATC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0059 a0003c0003t0001g0059	1	394	0.0025	-32	c.887 others(47): Show c.887-987_887-956delTCATCTCATCTCATCTCATCTCATCTCATC TC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASAP1_chr8_130047104_130448674	130215985	GAAAGGAA others(25): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG01256.hp1 others(8): Show HG00423.hp2 HG00738.hp2 HG01256.hp1 HG02004.hp1 HG02040.hp1 HG02280.hp1 HG02300.hp2 NA18906.hp2 NA18985.hp1 NA19010.hp2 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0010 a0002c0003t0001 a0002c0003t0010	a0002c0003t0001g0019 a0002c0003t0001g0022 a0002c0003t0001g0023 others(8): Show a0002c0003t0001g0019 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0010g0018	11	308	0.0357	-32	c.260 others(49): Show c.260-1316_260-1285delTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130267115	CAAACAAA others(25): Show CAAACAAACAAAAAAAAAACAAAACAAAAAACA	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0065 a0002c0002t0003g0065	1	308	0.0033	-32	c.187 others(51): Show c.187-30153_187-30122delTGTTTTTTGTTTTGTTTTTTTTTTGT TTGTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130417153	TGTACAAC others(25): Show TGTACAACTGCACACACACAGAAAACAACCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01167.hp1 others(44): Show HG00099.hp2 HG00642.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02293.hp1 HG02559.hp1 HG02622.hp1 HG02738.hp1 HG02895.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 NA18943.hp1 NA18947.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA19001.hp1 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19063.hp1 NA19070.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0030 a0001c0004t0002 a0002c0002t0001 a0002c0002t0010 a0002c0002t0026 a0002c0002t0029	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(44): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0002g0044 a0001c0001t0002g0089 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0008g0040 a0001c0001t0010g0043 a0001c0001t0011g0045 a0001c0001t0014g0049 a0001c0001t0014g0153 a0001c0001t0030g0046 a0001c0004t0002g0151 a0002c0002t0001g0009 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0276 a0002c0002t0010g0050 a0002c0002t0026g0062 a0002c0002t0029g0095	47	308	0.1526	-32	c.-27 others(51): Show c.-27-15215_-27-15184delGTGGGTTGTTTTCTGTGTGTGTGCAG TTGTAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	1/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9396450	ATATTTTG others(25): Show ATATTTTGTAGAGGTGGGGGTCTCCTTATGTTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0191 a0001c0004t0005g0191	1	210	0.0048	-32	c.268 others(51): Show c.2684+2804_2684+2835delTATTTTGTAGAGGTGGGGGTCTCCTT ATGTTG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27			chr2	TogoVar
ASB15_chr7_123596821_123644481	123623931	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp1 NA19030.hp2 HG02965.hp2 HG03579.hp1 NA19030.hp2	a0010 a0017 a0010 a0017	a0010c0011 a0017c0015 a0010c0011 a0017c0015	a0010c0011t0020 a0017c0015t0040 a0010c0011t0020 a0017c0015t0040	a0010c0011t0020g0020 a0010c0011t0020g0021 a0017c0015t0040g0145 a0010c0011t0020g0020 a0010c0011t0020g0021 a0017c0015t0040g0145	3	380	0.0079	-32	c.452 others(47): Show c.452-604_452-573delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASCC1_chr10_72091032_72221276	72218161	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	216	0.0046	-32	c.-20 others(43): Show c.-2020_-1989delATATATATATATATATATATATATATATTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1886		chr10	TogoVar
ASDURF_chr2_189656459_189671401	189665596	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18970.hp2 NA18982.hp2 others(1): Show HG00423.hp1 NA18970.hp2 NA18982.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0020 a0001c0001t0001g0053	4	340	0.0118	-32	c.220 others(47): Show c.220+147_220+178delGTATATATATATATATATATATATATATAT AT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASGR1_chr17_7168431_7184370	7176247	ACCCCATC others(25): Show ACCCCATCTCATTCTCACACTCACTCACACACC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	442	0.0023	-32	c.355 others(47): Show c.355+551_355+582delGGTGTGTGAGTGAGTGTGAGAATGAGATGG GG	ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	5/8			chr17	TogoVar
ASH2L_chr8_38100529_38145080	38136183	CACAAGTG others(25): Show CACAAGTGATCCTCCCACCTCAGCCTCCTGAGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	330	0.0030	-32	c.171 others(49): Show c.1719+419_1719+450delCAAGTGATCCTCCCACCTCAGCCTCCTG AGTA	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASMTL_chrX_1398139_1457909	1416176	GACAGGCA others(25): Show GACAGGCACACACAGACGCAGACATGCACAGCA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0179 a0003c0005t0001g0179	1	185	0.0054	-32	c.152 others(51): Show c.1522+1765_1522+1796delTGCTGTGCATGTCTGCGTCTGTGTGT GCCTGT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	11/12			chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665596	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18970.hp2 NA18982.hp2 others(2): Show HG00423.hp1 NA18970.hp2 NA18982.hp2 NA19001.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0046 a0001c0002t0001g0056 a0001c0002t0001g0020 a0001c0002t0001g0046 a0001c0002t0001g0056	5	340	0.0147	-32	c.-93 others(47): Show c.-93+147_-93+178delGTATATATATATATATATATATATATATAT AT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASPH_chr8_61495556_61719592	61561075	AGAGGGAG others(25): Show AGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0007 a0001c0001t0012g0007	1	258	0.0039	-32	c.143 others(51): Show c.1437+1637_1437+1668delCCTCCCTCTCTCCCTCCCTCCCTCCC TCCCTC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASRGL1_chr11_62332448_62398412	62362615	TTATATAT others(25): Show TTATATATTATATAAAATATATATAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00609.hp1 others(45): Show HG00408.hp1 HG00544.hp2 HG00609.hp1 HG01074.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02040.hp1 HG02055.hp2 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02647.hp1 HG02698.hp2 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03516.hp2 HG03654.hp2 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18945.hp2 NA18949.hp2 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18967.hp2 NA18975.hp1 NA18982.hp1 NA18988.hp1 NA18995.hp2 NA18999.hp2 NA19007.hp2 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19070.hp1 NA19077.hp2 NA19082.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0191 others(44): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0012g0194 a0001c0001t0012g0195 a0001c0001t0012g0197 a0001c0001t0012g0198	48	370	0.1297	-32	c.491 others(49): Show c.491+5494_491+5525delTAATATATAATATATATTATATAAAATA TATA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362652	TATTATAT others(25): Show TATTATATAAAATATATAATATATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02615.hp2 others(3): Show HG01891.hp2 HG02257.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0241 a0001c0001t0006g0247 others(3): Show a0001c0001t0006g0006 a0001c0001t0006g0241 a0001c0001t0006g0247 a0001c0001t0006g0254 a0001c0001t0006g0262 a0001c0001t0006g0280	6	370	0.0162	-32	c.491 others(49): Show c.491+5510_491+5541delTTATATAAAATATATAATATATATTATA TAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0353 a0001c0001t0010g0353	1	370	0.0027	-32	c.492 others(51): Show c.492-13683_492-13652delATATATATATATATATATATATATAT ATATAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN2_chr9_116418112_117420057	116530120	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03209.hp2 NA19030.hp1 others(1): Show HG01884.hp2 HG03209.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0025 a0001c0001 a0001c0002 a0001c0025	a0001c0001t0001 a0001c0002t0001 a0001c0025t0001 a0001c0001t0001 a0001c0002t0001 a0001c0025t0001	a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0002t0001g0036 others(1): Show a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0002t0001g0036 a0001c0025t0001g0080	4	102	0.0392	-32	c.335 others(53): Show c.3356-42652_3356-42621delTTATATATATATATATATATATAT ATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803496	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG01884.hp2 others(2): Show HG01081.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0025t0001	a0001c0001t0001g0015 a0001c0001t0009g0086 a0001c0001t0011g0002 others(2): Show a0001c0001t0001g0015 a0001c0001t0009g0086 a0001c0001t0011g0002 a0001c0001t0016g0075 a0001c0025t0001g0080	5	102	0.0490	-32	c.239 others(51): Show c.2396+2104_2396+2135delAAAAAATATATATATATATATATATA TATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803502	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01081.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0004 a0001c0017t0002 a0001c0001t0004 a0001c0017t0002	a0001c0001t0004g0060 a0001c0017t0002g0089 a0001c0001t0004g0060 a0001c0017t0002g0089	2	102	0.0196	-32	c.239 others(51): Show c.2396+2098_2396+2129delAAAAAAAAAAAATATATATATATATA TATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116990352	TGCCTCTT others(25): Show TGCCTCTTGGGTTCAAGCGATTCTCCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(43): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02451.hp2 HG02698.hp1 HG02698.hp2 HG02896.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0008 others(10): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0010 a0001c0017 a0001c0021 a0001c0022 a0001c0023 a0002c0004 a0003c0016 a0005c0015 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0008t0005 a0001c0009t0004 a0001c0009t0008 a0001c0010t0001 a0001c0010t0004 a0001c0017t0002 a0001c0021t0006 a0001c0022t0001 a0001c0023t0002 a0002c0004t0001 a0003c0016t0004 a0005c0015t0003 a0007c0018t0003	a0001c0001t0001g0034 a0001c0001t0002g0040 a0001c0001t0003g0063 others(43): Show a0001c0001t0001g0034 a0001c0001t0002g0040 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0004g0060 a0001c0001t0005g0077 a0001c0001t0008g0065 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0043 a0001c0002t0004g0047 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0009t0004g0032 a0001c0009t0008g0088 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0017t0002g0089 a0001c0021t0006g0056 a0001c0022t0001g0020 a0001c0023t0002g0069 a0002c0004t0001g0004 a0003c0016t0004g0027 a0005c0015t0003g0019 a0007c0018t0003g0031	46	102	0.4510	-32	c.159 others(53): Show c.1592-13599_1592-13568delGGAGGCAGGAGAATCGCTTGAACC CAAGAGGC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016592	TTATATAT others(25): Show TTATATATATATCTATATCTATATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02965.hp1 others(1): Show HG01891.hp2 HG02572.hp1 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0002 a0001c0001t0015 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0002 a0001c0013t0009	a0001c0001t0002g0018 a0001c0001t0015g0045 a0001c0002t0002g0046 others(1): Show a0001c0001t0002g0018 a0001c0001t0015g0045 a0001c0002t0002g0046 a0001c0013t0009g0072	4	102	0.0392	-32	c.142 others(51): Show c.1424-8365_1424-8334delGATAGATAGATATAGATATAGATATA TATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32364381	AGTTTTTT others(25): Show AGTTTTTTGTATTTTTTTGTAGAGACAGGGTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0017 a0001c0022t0001 a0001c0001t0017 a0001c0022t0001	a0001c0001t0017g0012 a0001c0022t0001g0011 a0001c0001t0017g0012 a0001c0022t0001g0011	2	282	0.0071	-32	c.58- others(47): Show c.58-2002_58-1971delGTTTTTTGTATTTTTTTGTAGAGACAGGGT TT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	1/12			chr20	TogoVar
ASXL2_chr2_25728753_25883487	25731515	TGTACACT others(25): Show TGTACACTTTATGTACAGTTTGTTCAAAATCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01167.hp1 HG01169.hp1 others(8): Show HG00733.hp1 HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02572.hp1 HG02809.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 others(1): Show a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017	a0001c0001t0011g0064 a0001c0001t0011g0065 a0001c0001t0011g0066 others(8): Show a0001c0001t0011g0064 a0001c0001t0011g0065 a0001c0001t0011g0066 a0001c0001t0011g0067 a0001c0001t0015g0063 a0001c0001t0016g0001 a0001c0001t0016g0002 a0001c0001t0016g0069 a0001c0001t0017g0003 a0001c0001t0017g0004 a0001c0001t0017g0005	11	222	0.0496	-32	c.10 others(45): Show c.10482_*10513delTTGATTTTGAACAAACTGTACATAAAGTGTAC	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding		2237		chr2	TogoVar
ATAT1_chr6_30621874_30651821	30648147	TATAGGAC others(25): Show TATAGGACATTTGTAGGAAGCGGAGGCATAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	405	0.0025	-32	c.15 others(43): Show c.1505_*1536delATAGGACATTTGTAGGAAGCGGAGGCATAGGG	ATAT1	ENSG00000137343.18	transcript	ENST00000376485.9	protein_coding		1327		chr6	TogoVar
ATCAY_chr19_3875685_3933082	3879497	AAAAAAAA others(25): Show AAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	384	0.0026	-32	c.-15 others(43): Show c.-1552_-1521delAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		1187		chr19	TogoVar
ATG2B_chr14_96274195_96368341	96308169	AATATATA others(25): Show AATATATATAAATACATAAATATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0336 a0004c0006t0010g0336	1	356	0.0028	-32	c.430 others(51): Show c.4303+1252_4304-1254delATGTATATATATATTTATGTATTTAT ATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar

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