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
ACSM5_chr16_20404534_20446336	20409863	A A	AGGAGAGG others(25): Show AGGAGAGGTGAGGGGCGGGAGAGGTGAGGGGCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02559.hp2 others(7): Show HG02145.hp1 HG02486.hp2 HG02559.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 NA18906.hp2 NA20129.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0017 a0001c0001 a0016c0017	a0001c0001t0001 a0016c0017t0010 a0001c0001t0001 a0016c0017t0010	a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0016c0017t0010g0050 a0016c0017t0010g0051	10	434	0.0230	32	c.-16 others(47): Show c.-16+240_-16+271dupAGGGGCGGGAGAGGTGAGGGGCGGGAGAGG TG	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSS1_chr20_25001237_25063139	25037001	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02300.hp2 HG03579.hp1 others(2): Show HG01069.hp1 HG02300.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0003 a0001c0010t0003 a0001c0003t0003 a0001c0010t0003	a0001c0003t0003g0013 a0001c0003t0003g0106 a0001c0010t0003g0063 others(1): Show a0001c0003t0003g0013 a0001c0003t0003g0106 a0001c0010t0003g0063 a0001c0010t0003g0066	5	244	0.0205	32	c.432 others(49): Show c.432-6044_432-6043insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	2/13			chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	312	0.0032	32	c.375 others(51): Show c.375-13658_375-13627dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp1 others(1): Show HG00735.hp2 HG01070.hp2 HG01071.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0101 a0001c0001t0001g0111 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0239	4	290	0.0138	32	c.135 others(51): Show c.1355-2925_1355-2894dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTBL2_chr5_57475018_57487811	57487385	T T	TCATGTAG others(25): Show TCATGTAGTATGTGCCAGTCTCTACGCTAAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	32	c.-46 others(43): Show c.-4679_-4678insGATTTAGCGTAGAGACTGGCACATACTACATG	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding		4575		chr5	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(25): Show GTGTGTGTATATATGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0182 a0001c0009t0001g0181 a0001c0001t0001g0182 a0001c0009t0001g0181	2	284	0.0070	32	c.106 others(51): Show c.106-24791_106-24790insTATATATATATATATACACATATATA CACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	284	0.0035	32	c.106 others(51): Show c.106-24791_106-24790insTATATATATATATACACACACACACA CACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(25): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0295 a0001c0001t0004g0295	1	344	0.0029	32	c.448 others(47): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01261.hp1 others(3): Show HG01168.hp2 HG01169.hp2 HG01261.hp1 HG02622.hp2 NA18950.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0003t0003 a0001c0015t0016	a0001c0001t0001g0307 a0001c0001t0004g0295 a0001c0003t0002g0051 others(3): Show a0001c0001t0001g0307 a0001c0001t0004g0295 a0001c0003t0002g0051 a0001c0003t0003g0058 a0001c0015t0016g0113 a0001c0015t0016g0115	6	344	0.0174	32	c.876 others(45): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38673443	A A	ATATATAT others(25): Show ATATATATATATTCATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0021 a0001c0001t0020 a0001c0001t0021	a0001c0001t0020g0277 a0001c0001t0021g0196 a0001c0001t0020g0277 a0001c0001t0021g0196	2	314	0.0064	32	c.162 others(51): Show c.162+25568_162+25599dupTTATATATATATTCATATATATTTAT ATATAT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38728449	C C	CCTCCTCC others(25): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	314	0.0032	32	c.241 others(49): Show c.2418+424_2418+425insTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTR3C_chr7_150242212_150328545	150259291	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	294	0.0034	32	c.565 others(51): Show c.565-10238_565-10237insCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTRT2_chr1_3016467_3027903	3024722	T T	TTCGCTGG others(25): Show TTCGCTGGTTTCAGATCAGGCATCTTCTGTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0000 a0008c0008t0001g0000	1	366	0.0027	32	c.19 others(43): Show c.1902_*1903insTCGCTGGTTTCAGATCAGGCATCTTCTGTTAC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		1820		chr1	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01192.hp2 others(17): Show HG00609.hp1 HG00609.hp2 HG01192.hp2 HG01255.hp2 HG01943.hp1 HG02071.hp2 HG02145.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG03130.hp1 HG03486.hp2 NA18971.hp1 NA18971.hp2 NA18990.hp2 NA19064.hp1 NA19064.hp2 NA19076.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0034 a0001c0002t0001 a0001c0002t0004 a0001c0002t0019 a0001c0009t0011 a0001c0012t0003 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0021	a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0201 others(17): Show a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0003g0209 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0032g0169 a0001c0001t0034g0144 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0004g0113 a0001c0002t0019g0091 a0001c0009t0011g0158 a0001c0012t0003g0051 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0005g0008 a0002c0003t0008g0097 a0002c0003t0021g0096	20	216	0.0926	32	c.544 others(49): Show c.544+1860_544+1891dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0023 a0002c0003t0002g0023	1	216	0.0046	32	c.544 others(49): Show c.544+1824_544+1825insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	216	0.0046	32	c.544 others(49): Show c.544+1824_544+1825insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0033 a0001c0002t0005g0033	1	216	0.0046	32	c.544 others(49): Show c.544+1824_544+1825insCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG02486.hp1 others(9): Show HG00280.hp1 HG01168.hp1 HG02486.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG04228.hp2 NA18522.hp1 NA18966.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0001c0010 others(5): Show a0001c0001 a0001c0005 a0001c0010 a0002c0002 a0002c0006 a0002c0009 a0002c0011 a0005c0016	a0001c0001t0003 a0001c0005t0002 a0001c0005t0006 others(7): Show a0001c0001t0003 a0001c0005t0002 a0001c0005t0006 a0001c0010t0018 a0002c0002t0003 a0002c0006t0003 a0002c0009t0002 a0002c0011t0002 a0002c0011t0006 a0005c0016t0045	a0001c0001t0003g0187 a0001c0005t0002g0028 a0001c0005t0002g0103 others(9): Show a0001c0001t0003g0187 a0001c0005t0002g0028 a0001c0005t0002g0103 a0001c0005t0006g0374 a0001c0010t0018g0144 a0002c0002t0003g0041 a0002c0006t0003g0064 a0002c0006t0003g0246 a0002c0009t0002g0306 a0002c0011t0002g0131 a0002c0011t0006g0343 a0005c0016t0045g0341	12	408	0.0294	32	c.108 others(51): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0286 a0001c0004t0001g0286	1	408	0.0025	32	c.973 others(47): Show c.973-422_973-421insATATTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20300.hp1 HG02486.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0016 a0001c0005 a0005c0016	a0001c0005t0002 a0005c0016t0045 a0001c0005t0002 a0005c0016t0045	a0001c0005t0002g0313 a0005c0016t0045g0341 a0001c0005t0002g0313 a0005c0016t0045g0341	2	408	0.0049	32	c.973 others(47): Show c.973-422_973-421insATATATATATATATATATATTTTTTTTTTT TT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAL_chr15_43325672_43359569	43334633	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp2 HG03654.hp2 others(1): Show HG00735.hp1 HG01358.hp2 HG03654.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0206 others(1): Show a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0206 a0001c0002t0003g0062	4	386	0.0104	32	c.-16 others(49): Show c.-163-281_-163-280insATATATATATATATATATATATATATAT ATAT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0325 a0001c0001t0059g0325	1	342	0.0029	32	c.586 others(49): Show c.586-1045_586-1044insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18992.hp1 HG02155.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0184 a0001c0005t0004g0252 a0001c0001t0001g0184 a0001c0005t0004g0252	2	342	0.0059	32	c.207 others(49): Show c.207-6473_207-6472insGAGATATATATATATATATATATATATA TATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126051532	G G	GCCAGCCA others(25): Show GCCAGCCAGCCAGCCAGCCAGCCAGCCACCCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0153 a0001c0008t0002g0153	1	252	0.0040	32	c.161 others(51): Show c.1610-1864_1610-1863insATGGGTGGCTGGCTGGCTGGCTGGCT GGCTGG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126051631	G G	GTCCATCC others(25): Show GTCCATCCATCCAGCCAGCCAGCCAGCCACCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 NA19240.hp1 HG02559.hp2 HG02572.hp1 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0020 a0007c0056 a0001c0020 a0007c0056	a0001c0020t0021 a0001c0020t0050 a0007c0056t0028 a0001c0020t0021 a0001c0020t0050 a0007c0056t0028	a0001c0020t0021g0174 a0001c0020t0050g0187 a0007c0056t0028g0002 a0001c0020t0021g0174 a0001c0020t0050g0187 a0007c0056t0028g0002	3	252	0.0119	32	c.161 others(51): Show c.1610-1963_1610-1962insTGGGTGGCTGGCTGGCTGGCTGGATG GATGGA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0060 a0002c0006t0002g0060	1	252	0.0040	32	c.114 others(51): Show c.1145+7304_1145+7305insATATATATATATATATATTTTTTTTT TTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	252	0.0040	32	c.114 others(51): Show c.1145+7304_1145+7305insATATATATATATATATATATATATTT TTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18952.hp1 HG03195.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0017 a0001c0002 a0002c0017	a0001c0002t0006 a0002c0017t0002 a0001c0002t0006 a0002c0017t0002	a0001c0002t0006g0252 a0002c0017t0002g0061 a0001c0002t0006g0252 a0002c0017t0002g0061	2	252	0.0079	32	c.114 others(51): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT TTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0178 a0001c0002t0011g0178	1	252	0.0040	32	c.114 others(51): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT ATATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126120949	A A	AATATAAT others(25): Show AATATAATATATATTATATATTACATATGTAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03471.hp2 HG02257.hp2 HG03471.hp2	a0009 a0012 a0009 a0012	a0009c0051 a0012c0039 a0009c0051 a0012c0039	a0009c0051t0003 a0012c0039t0004 a0009c0051t0003 a0012c0039t0004	a0009c0051t0003g0142 a0012c0039t0004g0190 a0009c0051t0003g0142 a0012c0039t0004g0190	2	252	0.0079	32	c.417 others(49): Show c.417-2726_417-2725insATTACATATGTAATATATAATATATATT ATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126295530	A A	AATACACA others(25): Show AATACACACACACACACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0006 a0001c0010t0001 a0001c0002t0006 a0001c0010t0001	a0001c0002t0006g0208 a0001c0002t0006g0213 a0001c0010t0001g0218 a0001c0002t0006g0208 a0001c0002t0006g0213 a0001c0010t0001g0218	3	252	0.0119	32	c.187 others(51): Show c.187-16574_187-16543dupGTGTGTGTGTGTGTATGTGTGTGTGT GTGTAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	2/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	234	0.0043	32	c.957 others(47): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9521840	T T	TCTGCCTG others(25): Show TCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	234	0.0043	32	c.844 others(47): Show c.844-525_844-524insGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC AG	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	7/18			chr2	TogoVar
ADAM9_chr8_38991973_39110261	39045006	C C	CTATGTAT others(25): Show CTATGTATGTGTATGTGTGTGTGCATACATACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	332	0.0030	32	c.130 others(51): Show c.1302+2927_1302+2958dupATGTGTATGTGTGTGTGCATACATAC ATATGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33849689	G G	GGTATCTA others(25): Show GGTATCTATATATGTATTACACAGCAATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0012 a0012c0021t0012	a0012c0021t0012g0213 a0012c0021t0012g0213	1	224	0.0045	32	c.489 others(51): Show c.489+31429_489+31430insTATATATTGCTGTGTAATACATATAT AGATAC	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS13_chr9_133417367_133464386	133460471	C C	CGGCGGGG others(25): Show CGGCGGGGGCGGGGGCGGGGGTGGGGCGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01167.hp1 others(4): Show HG00280.hp2 HG00733.hp2 HG01167.hp1 HG01169.hp1 HG02486.hp2 HG04228.hp2 NA20905.hp2	a0009 a0017 a0009 a0017	a0009c0013 a0017c0022 a0009c0013 a0017c0022	a0009c0013t0001 a0017c0022t0001 a0009c0013t0001 a0017c0022t0001	a0009c0013t0001g0011 a0009c0013t0001g0071 a0009c0013t0001g0073 others(3): Show a0009c0013t0001g0011 a0009c0013t0001g0071 a0009c0013t0001g0073 a0009c0013t0001g0074 a0017c0022t0001g0045 a0017c0022t0001g0155	7	364	0.0192	32	c.12 others(43): Show c.1291_*1292insGGCGGGGGCGGGGGCGGGGGTGGGGCGGCGGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1086		chr9	TogoVar
ADAMTS14_chr10_70667506_70767441	70759132	T T	TTTTTTTT others(25): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00558.hp2 others(13): Show HG00099.hp1 HG00140.hp2 HG00558.hp2 HG00642.hp2 HG01123.hp1 HG01243.hp2 HG02027.hp2 HG02293.hp1 HG02559.hp2 HG02615.hp2 HG02965.hp2 HG03098.hp2 HG03710.hp2 NA18999.hp2 NA19074.hp2 NA19082.hp1	a0001 a0010 a0012 others(1): Show a0001 a0010 a0012 a0033	a0001c0002 a0001c0007 a0001c0058 others(3): Show a0001c0002 a0001c0007 a0001c0058 a0010c0096 a0012c0082 a0033c0095	a0001c0002t0002 a0001c0002t0007 a0001c0002t0024 others(6): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0024 a0001c0002t0034 a0001c0007t0013 a0001c0058t0045 a0010c0096t0020 a0012c0082t0007 a0033c0095t0020	a0001c0002t0002g0110 a0001c0002t0002g0113 a0001c0002t0002g0131 others(13): Show a0001c0002t0002g0110 a0001c0002t0002g0113 a0001c0002t0002g0131 a0001c0002t0002g0145 a0001c0002t0002g0149 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0007g0009 a0001c0002t0007g0011 a0001c0002t0024g0205 a0001c0002t0034g0112 a0001c0007t0013g0347 a0001c0058t0045g0343 a0010c0096t0020g0059 a0012c0082t0007g0054 a0033c0095t0020g0060	16	354	0.0452	32	c.317 others(49): Show c.3178+848_3178+849insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCT	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS15_chr11_130443645_130481645	130470133	C C	CATATATA others(25): Show CATATATATATATATATATGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	398	0.0025	32	c.172 others(49): Show c.1720+711_1721-739dupATGTGTATATATATATATATATATATAT ATAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS16_chr5_5135330_5325304	5225857	A A	ACAATTAA others(25): Show ACAATTAATTCACATGGTCATGGTGAAATTAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0063 a0001c0010t0001g0063	1	332	0.0030	32	c.170 others(51): Show c.1701+2973_1701+2974insCAATTAATTCACATGGTCATGGTGAA ATTAAT	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	11/22			chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5225859	A A	AATTAATT others(25): Show AATTAATTCACATGGTCATGGTGAAATTAATTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(91): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01361.hp1 HG01496.hp2 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0015 a0020 a0024 a0036	a0001c0001 a0001c0010 a0001c0023 others(26): Show a0001c0001 a0001c0010 a0001c0023 a0001c0036 a0002c0002 a0002c0005 a0003c0006 a0003c0007 a0003c0017 a0004c0004 a0004c0020 a0004c0034 a0006c0008 a0006c0029 a0007c0012 a0008c0019 a0008c0038 a0009c0011 a0010c0015 a0010c0046 a0011c0021 a0011c0028 a0013c0026 a0013c0048 a0015c0035 a0015c0072 a0020c0058 a0024c0064 a0036c0070	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0026 a0001c0010t0001 a0001c0023t0006 a0001c0036t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0013 a0002c0005t0001 a0002c0005t0012 a0003c0006t0001 a0003c0006t0003 a0003c0006t0011 a0003c0007t0001 a0003c0007t0003 a0003c0007t0004 a0003c0007t0027 a0003c0017t0001 a0003c0017t0032 a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0020t0006 a0004c0034t0008 a0006c0008t0001 a0006c0008t0003 a0006c0008t0004 a0006c0008t0005 a0006c0008t0025 a0006c0029t0001 a0006c0029t0003 a0007c0012t0001 a0008c0019t0001 a0008c0019t0003 a0008c0019t0024 a0008c0019t0030 a0008c0038t0001 a0008c0038t0003 a0009c0011t0001 a0009c0011t0005 a0010c0015t0002 a0010c0015t0003 a0010c0015t0011 a0010c0015t0017 a0010c0046t0003 a0011c0021t0004 a0011c0028t0001 a0011c0028t0035 a0013c0026t0002 a0013c0026t0003 a0013c0048t0004 a0015c0035t0001 a0015c0035t0003 a0015c0072t0001 a0020c0058t0002 a0024c0064t0001 a0036c0070t0001	a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0048 others(91): Show a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0095 a0001c0001t0004g0035 a0001c0001t0004g0092 a0001c0001t0005g0031 a0001c0001t0007g0032 a0001c0001t0007g0104 a0001c0001t0008g0044 a0001c0001t0008g0070 a0001c0001t0017g0330 a0001c0001t0026g0034 a0001c0010t0001g0015 a0001c0023t0006g0226 a0001c0036t0012g0231 a0002c0002t0001g0213 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0002g0198 a0002c0002t0003g0212 a0002c0002t0013g0202 a0002c0002t0013g0222 a0002c0005t0001g0200 a0002c0005t0001g0278 a0002c0005t0012g0305 a0003c0006t0001g0147 a0003c0006t0003g0177 a0003c0006t0011g0148 a0003c0006t0011g0178 a0003c0007t0001g0175 a0003c0007t0001g0190 a0003c0007t0003g0163 a0003c0007t0004g0189 a0003c0007t0027g0183 a0003c0017t0001g0242 a0003c0017t0032g0237 a0004c0004t0001g0106 a0004c0004t0001g0108 a0004c0004t0001g0113 a0004c0004t0001g0123 a0004c0004t0001g0133 a0004c0004t0002g0114 a0004c0004t0005g0120 a0004c0004t0005g0121 a0004c0020t0006g0098 a0004c0034t0008g0261 a0006c0008t0001g0008 a0006c0008t0001g0040 a0006c0008t0001g0077 a0006c0008t0001g0078 a0006c0008t0001g0089 a0006c0008t0003g0039 a0006c0008t0004g0006 a0006c0008t0004g0007 a0006c0008t0005g0083 a0006c0008t0025g0033 a0006c0029t0001g0023 a0006c0029t0003g0019 a0007c0012t0001g0252 a0008c0019t0001g0211 a0008c0019t0003g0287 a0008c0019t0024g0267 a0008c0019t0030g0284 a0008c0038t0001g0266 a0008c0038t0003g0221 a0009c0011t0001g0107 a0009c0011t0001g0112 a0009c0011t0001g0117 a0009c0011t0001g0118 a0009c0011t0001g0125 a0009c0011t0005g0105 a0010c0015t0002g0143 a0010c0015t0003g0160 a0010c0015t0003g0174 a0010c0015t0011g0185 a0010c0015t0017g0164 a0010c0046t0003g0165 a0011c0021t0004g0166 a0011c0028t0001g0156 a0011c0028t0035g0157 a0013c0026t0002g0144 a0013c0026t0002g0150 a0013c0026t0003g0158 a0013c0048t0004g0155 a0015c0035t0001g0250 a0015c0035t0003g0259 a0015c0072t0001g0246 a0020c0058t0002g0328 a0024c0064t0001g0081 a0036c0070t0001g0258	94	332	0.2831	32	c.170 others(51): Show c.1701+3028_1701+3059dupTGAAATTAATTCATTAATTCACATGG TCATGG	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5225893	T T	TTAATTCA others(25): Show TTAATTCACATGGTCATGGTGAAATTAATTCAC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0001 a0007c0027t0001	a0007c0027t0001g0255 a0007c0027t0001g0255	1	332	0.0030	32	c.170 others(51): Show c.1701+3040_1701+3041insCTAATTCACATGGTCATGGTGAAATT AATTCA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	100119043	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03834.hp1 NA18955.hp2 others(1): Show HG01169.hp1 HG03834.hp1 NA18955.hp2 NA18984.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0072 a0002c0057 a0003c0013 others(1): Show a0001c0072 a0002c0057 a0003c0013 a0003c0015	a0001c0072t0005 a0002c0057t0022 a0003c0013t0001 others(1): Show a0001c0072t0005 a0002c0057t0022 a0003c0013t0001 a0003c0015t0003	a0001c0072t0005g0182 a0002c0057t0022g0073 a0003c0013t0001g0189 others(1): Show a0001c0072t0005g0182 a0002c0057t0022g0073 a0003c0013t0001g0189 a0003c0015t0003g0041	4	228	0.0175	32	c.172 others(51): Show c.1722-2031_1722-2030insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	12/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100255617	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02559.hp2 HG02647.hp2 others(1): Show HG02293.hp1 HG02559.hp2 HG02647.hp2 HG04115.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0001 a0003c0009 a0007c0023 a0002c0001 a0003c0009 a0007c0023	a0002c0001t0005 a0003c0009t0003 a0007c0023t0001 others(1): Show a0002c0001t0005 a0003c0009t0003 a0007c0023t0001 a0007c0023t0026	a0002c0001t0005g0191 a0003c0009t0003g0043 a0007c0023t0001g0206 others(1): Show a0002c0001t0005g0191 a0003c0009t0003g0043 a0007c0023t0001g0206 a0007c0023t0026g0031	4	228	0.0175	32	c.103 others(51): Show c.1032-1439_1032-1438insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	6/21			chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp2 HG01074.hp1 others(16): Show HG00558.hp1 HG01070.hp2 HG01074.hp1 HG01192.hp2 HG01346.hp1 HG02976.hp2 HG03704.hp1 HG03831.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18975.hp2 NA18982.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0008 a0009 a0031	a0001c0001 a0001c0016 a0003c0002 others(4): Show a0001c0001 a0001c0016 a0003c0002 a0006c0005 a0008c0008 a0009c0009 a0031c0036	a0001c0001t0002 a0001c0001t0041 a0001c0001t0044 others(8): Show a0001c0001t0002 a0001c0001t0041 a0001c0001t0044 a0001c0016t0002 a0003c0002t0006 a0003c0002t0007 a0006c0005t0003 a0008c0008t0003 a0009c0009t0001 a0009c0009t0014 a0031c0036t0006	a0001c0001t0002g0068 a0001c0001t0002g0134 a0001c0001t0002g0181 others(16): Show a0001c0001t0002g0068 a0001c0001t0002g0134 a0001c0001t0002g0181 a0001c0001t0002g0295 a0001c0001t0041g0281 a0001c0001t0044g0288 a0001c0016t0002g0012 a0003c0002t0006g0013 a0003c0002t0006g0052 a0003c0002t0006g0294 a0003c0002t0007g0041 a0003c0002t0007g0132 a0003c0002t0007g0146 a0003c0002t0007g0237 a0006c0005t0003g0204 a0008c0008t0003g0173 a0009c0009t0001g0085 a0009c0009t0014g0293 a0031c0036t0006g0292	19	326	0.0583	32	c.253 others(51): Show c.2532+5064_2532+5095dupATATATATATATATATATATATATAT ATATAT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CTTATATA others(25): Show CTTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01934.hp1 HG03209.hp2 others(2): Show HG00639.hp2 HG01934.hp1 HG03209.hp2 HG03516.hp2 NA19084.hp1	a0004 a0005 a0011 a0004 a0005 a0011	a0004c0003 a0005c0004 a0011c0011 a0004c0003 a0005c0004 a0011c0011	a0004c0003t0012 a0005c0004t0001 a0011c0011t0005 a0004c0003t0012 a0005c0004t0001 a0011c0011t0005	a0004c0003t0012g0136 a0005c0004t0001g0243 a0005c0004t0001g0246 others(2): Show a0004c0003t0012g0136 a0005c0004t0001g0243 a0005c0004t0001g0246 a0005c0004t0001g0273 a0011c0011t0005g0004	5	326	0.0153	32	c.253 others(51): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATATAA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77400313	G G	GTCTACTC others(25): Show GTCTACTCTAGACCTCCCACTCCACACCTACTA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0298 a0009c0009t0001g0298	1	326	0.0031	32	c.495 others(51): Show c.495+30981_495+30982insTAGTAGGTGTGGAGTGGGAGGTCTAG AGTAGA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	3/22			chr16	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0152 a0003c0007t0001g0152	1	306	0.0033	32	c.161 others(51): Show c.1614+1906_1614+1907insAAAAAATATATATATATATATATATA TATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03927.hp1 HG02293.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0047 a0001c0001t0001g0061	2	306	0.0065	32	c.161 others(51): Show c.1614+1906_1614+1907insAAAAAAAATATATATATATATATATA TATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02055.hp2 HG00738.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0241 a0001c0001t0001g0242	2	306	0.0065	32	c.161 others(51): Show c.1614+1906_1614+1907insAAAAAAAAAATATATATATATATATA TATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18962.hp1 HG01070.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0159 a0001c0001t0001g0070 a0001c0001t0001g0159	2	306	0.0065	32	c.161 others(51): Show c.1614+1906_1614+1907insAAAAAAAAAAAATATATATATATATA TATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar

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