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
ACTR1B_chr2_97650939_97669044	97665729	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03471.hp1 HG02109.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	2	398	0.0050	-24	c.-18 others(35): Show c.-1863_-1840delTATATATATATATATAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1686		chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152796860	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0194	1	310	0.0032	-24	c.101 others(41): Show c.101-3656_101-3633delTTTTTTTTTTTTTTTTTTTTTTTT	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 NA20805.hp1 HG01106.hp1 HG01243.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0037 a0001c0002t0001 a0001c0002t0003 a0001c0002t0037	a0001c0002t0001g0063 a0001c0002t0003g0071 a0001c0002t0037g0070 a0001c0002t0001g0063 a0001c0002t0003g0071 a0001c0002t0037g0070	3	216	0.0139	-24	c.544 others(41): Show c.544+1868_544+1891delTTCTTTCTTTCTTTCTTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147881619	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	338	0.0030	-24	c.56- others(41): Show c.56-14663_56-14640delTGTGTATGTGTGTGTGTGTGTGTG	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38460960	TGAGCATT others(17): Show TGAGCATTTCGGAGGATGGGATGAG	T T	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0207 a0001c0001t0207	a0001c0001t0207g0069 a0001c0001t0207g0069	1	410	0.0024	-24	c.52+ others(39): Show c.52+6587_52+6610delGAGCATTTCGGAGGATGGGATGAG	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	1/10			chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01934.hp2 HG02615.hp2 others(7): Show HG01074.hp2 HG01934.hp2 HG02615.hp2 HG03139.hp1 NA18522.hp2 NA18906.hp1 NA18957.hp1 NA19067.hp1 NA19075.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0170 a0001c0001t0171 others(6): Show a0001c0001t0060 a0001c0001t0170 a0001c0001t0171 a0001c0001t0176 a0001c0001t0188 a0001c0001t0194 a0001c0001t0196 a0001c0001t0215 a0001c0001t0216	a0001c0001t0060g0002 a0001c0001t0060g0121 a0001c0001t0170g0143 others(7): Show a0001c0001t0060g0002 a0001c0001t0060g0121 a0001c0001t0170g0143 a0001c0001t0171g0122 a0001c0001t0176g0011 a0001c0001t0188g0002 a0001c0001t0194g0021 a0001c0001t0196g0014 a0001c0001t0215g0134 a0001c0001t0216g0020	10	410	0.0244	-24	c.94 others(35): Show c.9449_*9472delCACACACACACACACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9449	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492781	CACACACA others(17): Show CACACACACACACACACACACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG01928.hp1 HG02572.hp2 others(4): Show HG00408.hp1 HG01928.hp1 HG02572.hp2 HG03130.hp1 NA18944.hp2 NA19000.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0111 a0001c0001t0125 others(4): Show a0001c0001t0068 a0001c0001t0111 a0001c0001t0125 a0001c0001t0146 a0001c0001t0164 a0001c0001t0206 a0001c0001t0208	a0001c0001t0068g0053 a0001c0001t0111g0012 a0001c0001t0125g0009 others(4): Show a0001c0001t0068g0053 a0001c0001t0111g0012 a0001c0001t0125g0009 a0001c0001t0146g0102 a0001c0001t0164g0009 a0001c0001t0206g0080 a0001c0001t0208g0079	7	410	0.0171	-24	c.94 others(35): Show c.9454_*9477delACACACACACACACACACATACAC	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9454	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACY3_chr11_67637555_67655730	67652205	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0046 a0002c0002t0004g0046	1	396	0.0025	-24	c.-17 others(35): Show c.-1741_-1718delATTTATTTATTTATTTATTTATTT	ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding		1476		chr11	TogoVar
ACYP2_chr2_53966113_54310300	54013255	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0004 a0003c0004t0007g0004	1	272	0.0037	-24	c.63- others(41): Show c.63-37665_63-37642delGTGTGTGTGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54102638	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(65): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03490.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18941.hp2 NA18945.hp2 NA18961.hp1 NA18967.hp1 NA18981.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0013 a0002c0003t0002 a0002c0003t0005 a0002c0005t0002	a0001c0001t0001g0196 a0001c0001t0001g0221 a0001c0002t0002g0009 others(65): Show a0001c0001t0001g0196 a0001c0001t0001g0221 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0095 a0001c0002t0002g0122 a0001c0002t0002g0271 a0001c0002t0005g0017 a0001c0002t0005g0035 a0001c0002t0005g0068 a0001c0002t0008g0092 a0001c0002t0008g0094 a0001c0002t0013g0040 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0012 a0002c0003t0002g0019 a0002c0003t0002g0021 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0049 a0002c0003t0002g0090 a0002c0003t0002g0093 a0002c0003t0005g0015 a0002c0005t0002g0168	68	272	0.2500	-24	c.278 others(43): Show c.278-32802_278-32779delAAAAAAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17222472	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02886.hp1 HG01928.hp2 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0041 a0001c0001t0004 a0002c0002t0041	a0001c0001t0004g0338 a0002c0002t0041g0332 a0001c0001t0004g0338 a0002c0002t0041g0332	2	408	0.0049	-24	c.-31 others(35): Show c.-3187_-3164delTATATATATATATATATATACACA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding		3038		chr22	TogoVar
ADAM10_chr15_58583809_58754707	58593149	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00544.hp2 others(98): Show HG00099.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01256.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02523.hp2 HG02622.hp2 HG02683.hp1 HG02735.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18992.hp1 NA18995.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0044 a0001c0001t0048 a0001c0001t0098 a0001c0001t0102 a0001c0001t0103 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0117 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0057 others(98): Show a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0014g0002 a0001c0001t0014g0004 a0001c0001t0014g0276 a0001c0001t0014g0278 a0001c0001t0044g0067 a0001c0001t0044g0126 a0001c0001t0048g0341 a0001c0001t0048g0342 a0001c0001t0098g0003 a0001c0001t0102g0122 a0001c0001t0103g0324 a0001c0001t0108g0134 a0001c0001t0109g0105 a0001c0001t0110g0116 a0001c0001t0111g0139 a0001c0001t0117g0110 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0002c0003t0001g0016	101	342	0.2953	-24	c.43 others(35): Show c.4374_*4397delAAAAAAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	16/16	4374		chr15	TogoVar
ADAM12_chr10_126007391_126393477	126049988	GTGGCTGG others(17): Show GTGGCTGGCTGGCTGGCTGGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0015	a0001c0002 a0001c0003 a0001c0004 others(39): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0019 a0001c0020 a0001c0033 a0001c0034 a0001c0036 a0001c0038 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0015 a0002c0016 a0002c0023 a0002c0024 a0002c0048 a0002c0049 a0002c0050 a0002c0052 a0002c0055 a0003c0018 a0003c0028 a0003c0029 a0004c0022 a0004c0046 a0004c0047 a0006c0044 a0007c0056 a0008c0057 a0009c0051 a0010c0058 a0011c0030 a0012c0039 a0015c0035	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(97): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0038 a0001c0002t0039 a0001c0002t0048 a0001c0003t0003 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0012 a0001c0003t0013 a0001c0003t0034 a0001c0003t0043 a0001c0003t0046 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0017 a0001c0004t0023 a0001c0004t0041 a0001c0004t0047 a0001c0009t0007 a0001c0009t0010 a0001c0009t0015 a0001c0010t0001 a0001c0010t0002 a0001c0012t0014 a0001c0013t0001 a0001c0014t0003 a0001c0014t0009 a0001c0014t0010 a0001c0019t0018 a0001c0019t0044 a0001c0020t0021 a0001c0020t0050 a0001c0033t0001 a0001c0034t0001 a0001c0036t0003 a0001c0038t0009 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0001t0008 a0002c0001t0017 a0002c0001t0018 a0002c0001t0031 a0002c0001t0032 a0002c0001t0037 a0002c0005t0003 a0002c0005t0007 a0002c0005t0009 a0002c0005t0010 a0002c0005t0012 a0002c0005t0016 a0002c0005t0030 a0002c0005t0036 a0002c0006t0001 a0002c0006t0002 a0002c0006t0004 a0002c0006t0005 a0002c0006t0024 a0002c0007t0002 a0002c0007t0005 a0002c0011t0009 a0002c0011t0010 a0002c0011t0013 a0002c0011t0033 a0002c0015t0002 a0002c0015t0006 a0002c0016t0001 a0002c0016t0029 a0002c0023t0026 a0002c0024t0012 a0002c0048t0025 a0002c0049t0004 a0002c0050t0004 a0002c0052t0003 a0002c0055t0013 a0003c0018t0003 a0003c0018t0016 a0003c0028t0019 a0003c0029t0005 a0004c0022t0002 a0004c0022t0020 a0004c0046t0010 a0004c0047t0004 a0006c0044t0042 a0007c0056t0028 a0008c0057t0004 a0009c0051t0003 a0010c0058t0014 a0011c0030t0001 a0012c0039t0004 a0015c0035t0003	a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0097 others(175): Show a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0149 a0001c0002t0001g0185 a0001c0002t0001g0205 a0001c0002t0001g0220 a0001c0002t0002g0022 a0001c0002t0002g0038 a0001c0002t0002g0186 a0001c0002t0005g0250 a0001c0002t0008g0017 a0001c0002t0008g0201 a0001c0002t0008g0211 a0001c0002t0008g0214 a0001c0002t0017g0013 a0001c0002t0018g0135 a0001c0002t0019g0150 a0001c0002t0019g0188 a0001c0002t0020g0018 a0001c0002t0038g0159 a0001c0002t0039g0160 a0001c0002t0048g0035 a0001c0003t0003g0025 a0001c0003t0003g0030 a0001c0003t0003g0041 a0001c0003t0003g0088 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0133 a0001c0003t0003g0195 a0001c0003t0007g0028 a0001c0003t0007g0033 a0001c0003t0007g0087 a0001c0003t0007g0148 a0001c0003t0009g0032 a0001c0003t0010g0140 a0001c0003t0012g0089 a0001c0003t0012g0134 a0001c0003t0013g0176 a0001c0003t0034g0127 a0001c0003t0043g0068 a0001c0003t0046g0046 a0001c0004t0001g0036 a0001c0004t0002g0029 a0001c0004t0002g0034 a0001c0004t0002g0045 a0001c0004t0002g0069 a0001c0004t0002g0161 a0001c0004t0002g0193 a0001c0004t0002g0204 a0001c0004t0004g0093 a0001c0004t0004g0099 a0001c0004t0004g0129 a0001c0004t0017g0131 a0001c0004t0023g0014 a0001c0004t0023g0173 a0001c0004t0041g0040 a0001c0004t0047g0152 a0001c0009t0007g0138 a0001c0009t0010g0096 a0001c0009t0015g0207 a0001c0009t0015g0237 a0001c0010t0001g0216 a0001c0010t0001g0218 a0001c0010t0002g0128 a0001c0010t0002g0139 a0001c0012t0014g0079 a0001c0012t0014g0085 a0001c0012t0014g0180 a0001c0013t0001g0023 a0001c0013t0001g0026 a0001c0013t0001g0027 a0001c0014t0003g0090 a0001c0014t0009g0095 a0001c0014t0010g0064 a0001c0019t0018g0203 a0001c0019t0044g0182 a0001c0020t0021g0174 a0001c0020t0050g0187 a0001c0033t0001g0162 a0001c0034t0001g0202 a0001c0036t0003g0100 a0001c0038t0009g0070 a0002c0001t0001g0007 a0002c0001t0001g0050 a0002c0001t0001g0057 a0002c0001t0001g0062 a0002c0001t0001g0115 a0002c0001t0001g0125 a0002c0001t0001g0144 a0002c0001t0001g0146 a0002c0001t0001g0163 a0002c0001t0001g0166 a0002c0001t0001g0200 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0005g0053 a0002c0001t0005g0080 a0002c0001t0005g0145 a0002c0001t0006g0020 a0002c0001t0006g0194 a0002c0001t0008g0104 a0002c0001t0008g0157 a0002c0001t0008g0169 a0002c0001t0017g0156 a0002c0001t0018g0008 a0002c0001t0031g0005 a0002c0001t0032g0003 a0002c0001t0037g0081 a0002c0005t0003g0106 a0002c0005t0003g0113 a0002c0005t0003g0122 a0002c0005t0007g0105 a0002c0005t0007g0111 a0002c0005t0007g0158 a0002c0005t0007g0199 a0002c0005t0009g0103 a0002c0005t0009g0224 a0002c0005t0009g0227 a0002c0005t0009g0231 a0002c0005t0010g0059 a0002c0005t0012g0058 a0002c0005t0016g0243 a0002c0005t0030g0006 a0002c0005t0036g0246 a0002c0006t0001g0109 a0002c0006t0002g0052 a0002c0006t0002g0060 a0002c0006t0002g0215 a0002c0006t0004g0082 a0002c0006t0004g0234 a0002c0006t0004g0240 a0002c0006t0005g0154 a0002c0006t0005g0241 a0002c0006t0024g0116 a0002c0007t0002g0108 a0002c0007t0002g0112 a0002c0007t0002g0117 a0002c0007t0002g0119 a0002c0007t0002g0123 a0002c0007t0002g0242 a0002c0007t0005g0239 a0002c0011t0009g0054 a0002c0011t0010g0120 a0002c0011t0013g0072 a0002c0011t0033g0222 a0002c0015t0002g0024 a0002c0015t0006g0009 a0002c0016t0001g0056 a0002c0016t0001g0118 a0002c0016t0029g0004 a0002c0023t0026g0073 a0002c0023t0026g0229 a0002c0024t0012g0121 a0002c0024t0012g0238 a0002c0048t0025g0110 a0002c0049t0004g0071 a0002c0050t0004g0221 a0002c0052t0003g0055 a0002c0055t0013g0019 a0003c0018t0003g0126 a0003c0018t0016g0094 a0003c0028t0019g0039 a0003c0029t0005g0037 a0004c0022t0002g0168 a0004c0022t0020g0167 a0004c0046t0010g0228 a0004c0047t0004g0164 a0006c0044t0042g0175 a0007c0056t0028g0002 a0008c0057t0004g0248 a0009c0051t0003g0142 a0010c0058t0014g0010 a0011c0030t0001g0130 a0012c0039t0004g0190 a0015c0035t0003g0171	178	252	0.7064	-24	c.161 others(41): Show c.1610-343_1610-320delGCCAGCCAGCCAGCCAGCCAGCCA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126051536	CCCATCCA others(17): Show CCCATCCATCCATCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(69): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18946.hp1 NA18959.hp1 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18994.hp2 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19090.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0009 others(13): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0012 a0001c0019 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0015 a0002c0016 a0002c0048 a0004c0022 a0004c0046	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 others(39): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0018 a0001c0002t0039 a0001c0003t0003 a0001c0003t0007 a0001c0003t0010 a0001c0003t0013 a0001c0003t0043 a0001c0003t0046 a0001c0009t0007 a0001c0009t0010 a0001c0009t0015 a0001c0010t0002 a0001c0012t0014 a0001c0019t0018 a0001c0019t0044 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0001t0008 a0002c0001t0018 a0002c0001t0031 a0002c0001t0037 a0002c0005t0007 a0002c0005t0010 a0002c0005t0012 a0002c0005t0030 a0002c0005t0036 a0002c0006t0005 a0002c0007t0002 a0002c0011t0009 a0002c0011t0010 a0002c0011t0013 a0002c0011t0033 a0002c0015t0006 a0002c0016t0029 a0002c0048t0025 a0004c0022t0002 a0004c0022t0020 a0004c0046t0010	a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0097 others(69): Show a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0149 a0001c0002t0001g0185 a0001c0002t0001g0205 a0001c0002t0005g0250 a0001c0002t0008g0017 a0001c0002t0008g0201 a0001c0002t0008g0211 a0001c0002t0008g0214 a0001c0002t0018g0135 a0001c0002t0039g0160 a0001c0003t0003g0025 a0001c0003t0003g0133 a0001c0003t0007g0028 a0001c0003t0007g0033 a0001c0003t0007g0087 a0001c0003t0007g0148 a0001c0003t0010g0140 a0001c0003t0013g0176 a0001c0003t0043g0068 a0001c0003t0046g0046 a0001c0009t0007g0138 a0001c0009t0010g0096 a0001c0009t0015g0207 a0001c0009t0015g0237 a0001c0010t0002g0139 a0001c0012t0014g0079 a0001c0019t0018g0203 a0001c0019t0044g0182 a0002c0001t0001g0050 a0002c0001t0001g0057 a0002c0001t0001g0062 a0002c0001t0001g0125 a0002c0001t0001g0163 a0002c0001t0001g0166 a0002c0001t0001g0200 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0005g0053 a0002c0001t0005g0145 a0002c0001t0006g0020 a0002c0001t0006g0194 a0002c0001t0008g0104 a0002c0001t0008g0157 a0002c0001t0008g0169 a0002c0001t0018g0008 a0002c0001t0031g0005 a0002c0001t0037g0081 a0002c0005t0007g0105 a0002c0005t0007g0111 a0002c0005t0007g0158 a0002c0005t0007g0199 a0002c0005t0010g0059 a0002c0005t0012g0058 a0002c0005t0030g0006 a0002c0005t0036g0246 a0002c0006t0005g0154 a0002c0007t0002g0112 a0002c0007t0002g0123 a0002c0011t0009g0054 a0002c0011t0010g0120 a0002c0011t0013g0072 a0002c0011t0033g0222 a0002c0015t0006g0009 a0002c0016t0029g0004 a0002c0048t0025g0110 a0004c0022t0002g0168 a0004c0022t0020g0167 a0004c0046t0010g0228	72	252	0.2857	-24	c.161 others(43): Show c.1610-1891_1610-1868delATGGATGGATGGATGGATGGATGG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086666	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0024 a0002c0006t0024	a0002c0006t0024g0116 a0002c0006t0024g0116	1	252	0.0040	-24	c.114 others(43): Show c.1145+7295_1145+7318delATATATATATTTTTTTTTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0169 a0002c0001t0008g0169	1	252	0.0040	-24	c.604 others(41): Show c.604-3871_604-3848delATATATATATATATATATATATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126248669	GTATGTAT others(17): Show GTATGTATGTATGTATGTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02055.hp1 HG03486.hp1 others(3): Show HG00423.hp2 HG02055.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0016	a0001c0002 a0001c0003 a0002c0015 others(2): Show a0001c0002 a0001c0003 a0002c0015 a0003c0029 a0016c0043	a0001c0002t0008 a0001c0003t0010 a0002c0015t0002 others(3): Show a0001c0002t0008 a0001c0003t0010 a0002c0015t0002 a0002c0015t0006 a0003c0029t0005 a0016c0043t0001	a0001c0002t0008g0214 a0001c0003t0010g0137 a0002c0015t0002g0024 others(3): Show a0001c0002t0008g0214 a0001c0003t0010g0137 a0002c0015t0002g0024 a0002c0015t0006g0009 a0003c0029t0005g0037 a0016c0043t0001g0098	6	252	0.0238	-24	c.260 others(43): Show c.260+30222_260+30245delAATAAATACATACATACATACATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126387886	ACCTGGGG others(17): Show ACCTGGGGGGGGGGGGTCGGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG03209.hp2 HG02258.hp1 HG03098.hp2 HG03209.hp2	a0002 a0002	a0002c0001 a0002c0006 a0002c0055 a0002c0001 a0002c0006 a0002c0055	a0002c0001t0006 a0002c0006t0011 a0002c0055t0013 a0002c0001t0006 a0002c0006t0011 a0002c0055t0013	a0002c0001t0006g0020 a0002c0006t0011g0021 a0002c0055t0013g0019 a0002c0001t0006g0020 a0002c0006t0011g0021 a0002c0055t0013g0019	3	252	0.0119	-24	c.88+ others(37): Show c.88+148_88+171delCGAGACCGACCCCCCCCCCCCAGG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	1/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9514518	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01070.hp1 others(33): Show HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01934.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp2 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0010	a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 others(13): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0071 a0001c0002t0003 a0001c0002t0008 a0001c0002t0016 a0001c0002t0051 a0002c0003t0026 a0002c0003t0041 a0002c0003t0042 a0002c0003t0045 a0002c0003t0046 a0002c0003t0047 a0005c0010t0038	a0001c0001t0007g0119 a0001c0001t0007g0121 a0001c0001t0007g0122 others(33): Show a0001c0001t0007g0119 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0133 a0001c0001t0007g0138 a0001c0001t0009g0124 a0001c0001t0009g0126 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0137 a0001c0001t0009g0139 a0001c0001t0013g0115 a0001c0001t0013g0116 a0001c0001t0013g0117 a0001c0001t0013g0118 a0001c0001t0013g0131 a0001c0001t0014g0120 a0001c0001t0014g0125 a0001c0001t0014g0127 a0001c0001t0014g0129 a0001c0001t0014g0134 a0001c0001t0071g0132 a0001c0002t0003g0147 a0001c0002t0008g0155 a0001c0002t0008g0156 a0001c0002t0016g0149 a0001c0002t0016g0150 a0001c0002t0051g0148 a0002c0003t0026g0061 a0002c0003t0026g0063 a0002c0003t0041g0059 a0002c0003t0042g0057 a0002c0003t0045g0055 a0002c0003t0046g0058 a0002c0003t0047g0062 a0005c0010t0038g0053	36	234	0.1539	-24	c.119 others(43): Show c.1191+3359_1191+3382delATATATATATATATATATATATAT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	10/18			chr2	TogoVar
ADAM18_chr8_39579568_39735065	39586755	ACTATCTA others(17): Show ACTATCTATCTATCTATCTATCTAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01099.hp1 others(2): Show HG00642.hp2 HG00738.hp2 HG01099.hp1 HG02004.hp2 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0002t0001 a0001c0015t0001	a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 others(2): Show a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0015t0001g0029	5	347	0.0144	-24	c.132 others(41): Show c.132+1428_132+1451delCTATCTATCTATCTATCTATCTAT	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM18_chr8_39579568_39735065	39722217	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp2 others(80): Show HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp2 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03490.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18999.hp1 NA18999.hp2 NA19010.hp2 NA19012.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 others(1): Show a0001c0001 a0001c0002 a0005c0011 a0005c0016	a0001c0001t0001 a0001c0002t0001 a0005c0011t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0005c0011t0001 a0005c0016t0001	a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0190 others(79): Show a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0002t0001g0001 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0062 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0285 a0005c0011t0001g0188 a0005c0011t0001g0245 a0005c0016t0001g0156	83	347	0.2392	-24	c.201 others(43): Show c.2018-1509_2018-1486delATATATATATATATATATATATAT	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM23_chr2_206438532_206626127	206570098	ATGGCACC others(17): Show ATGGCACCAGTAGACTAGATTATTC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02155.hp2 NA18963.hp1 others(2): Show HG02083.hp1 HG02155.hp2 NA18963.hp1 NA18977.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0211 others(2): Show a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0256 a0001c0001t0001g0303	5	358	0.0140	-24	c.149 others(41): Show c.1495-640_1495-617delGGCACCAGTAGACTAGATTATTCT	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAM29_chr4_174913358_174983180	174923519	TTATATGT others(17): Show TTATATGTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 NA20300.hp2 HG02258.hp2 HG02723.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0004 a0001c0006 a0004c0004	a0001c0006t0002 a0004c0004t0009 a0001c0006t0002 a0004c0004t0009	a0001c0006t0002g0033 a0004c0004t0009g0240 a0004c0004t0009g0241 a0001c0006t0002g0033 a0004c0004t0009g0240 a0004c0004t0009g0241	3	330	0.0091	-24	c.-45 others(43): Show c.-451+2733_-451+2756delGTATATATATATATATATATATAT	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAMTS12_chr5_33518535_33896990	33521396	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03516.hp2 NA19043.hp1 others(1): Show HG02630.hp2 HG03516.hp2 NA19043.hp1 NA21309.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0028	a0001c0025 a0002c0026 a0012c0021 others(1): Show a0001c0025 a0002c0026 a0012c0021 a0028c0030	a0001c0025t0012 a0002c0026t0002 a0012c0021t0012 others(1): Show a0001c0025t0012 a0002c0026t0002 a0012c0021t0012 a0028c0030t0012	a0001c0025t0012g0217 a0002c0026t0002g0160 a0012c0021t0012g0213 others(1): Show a0001c0025t0012g0217 a0002c0026t0002g0160 a0012c0021t0012g0213 a0028c0030t0012g0200	4	224	0.0179	-24	c.57 others(35): Show c.5768_*5791delATATATATATATATATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding		2138		chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33835937	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01069.hp2 others(25): Show HG00323.hp1 HG00408.hp2 HG01069.hp2 HG01074.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01978.hp2 HG01993.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG03540.hp2 HG03654.hp2 NA18957.hp2 NA18961.hp2 NA18995.hp2 NA19000.hp1 NA19007.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0028	a0001c0001 a0001c0003 a0001c0008 others(9): Show a0001c0001 a0001c0003 a0001c0008 a0001c0031 a0001c0035 a0001c0039 a0002c0002 a0002c0004 a0003c0023 a0004c0007 a0010c0014 a0028c0030	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0004 a0001c0003t0019 a0001c0008t0005 a0001c0031t0001 a0001c0035t0001 a0001c0039t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0002 a0003c0023t0006 a0004c0007t0014 a0010c0014t0001 a0028c0030t0012	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(25): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0177 a0001c0001t0003g0022 a0001c0001t0004g0010 a0001c0003t0004g0020 a0001c0003t0004g0084 a0001c0003t0019g0111 a0001c0008t0005g0028 a0001c0008t0005g0031 a0001c0031t0001g0115 a0001c0035t0001g0036 a0001c0039t0001g0032 a0002c0002t0002g0011 a0002c0002t0002g0030 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0003g0023 a0002c0004t0002g0016 a0003c0023t0006g0035 a0004c0007t0014g0113 a0010c0014t0001g0110 a0010c0014t0001g0112 a0028c0030t0012g0200	28	224	0.1250	-24	c.489 others(43): Show c.489+45158_489+45181delCACACACAGAGAGAGAGAGAGAGA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33835941	CTCTCTCT others(17): Show CTCTCTCTCTCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02165.hp1 others(10): Show HG01884.hp1 HG01884.hp2 HG02165.hp1 HG02258.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03516.hp1 NA18906.hp2 NA18940.hp2	a0001 a0004 a0008 others(5): Show a0001 a0004 a0008 a0018 a0019 a0021 a0022 a0025	a0001c0001 a0001c0016 a0001c0018 others(9): Show a0001c0001 a0001c0016 a0001c0018 a0004c0017 a0004c0019 a0008c0052 a0008c0055 a0018c0057 a0019c0056 a0021c0054 a0022c0051 a0025c0020	a0001c0001t0001 a0001c0016t0001 a0001c0018t0008 others(9): Show a0001c0001t0001 a0001c0016t0001 a0001c0018t0008 a0004c0017t0013 a0004c0019t0007 a0008c0052t0027 a0008c0055t0001 a0018c0057t0022 a0019c0056t0001 a0021c0054t0007 a0022c0051t0006 a0025c0020t0010	a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0016t0001g0208 others(10): Show a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0016t0001g0208 a0001c0018t0008g0207 a0004c0017t0013g0209 a0004c0019t0007g0205 a0008c0052t0027g0224 a0008c0055t0001g0176 a0018c0057t0022g0175 a0019c0056t0001g0173 a0021c0054t0007g0174 a0022c0051t0006g0172 a0025c0020t0010g0206	13	224	0.0580	-24	c.489 others(43): Show c.489+45154_489+45177delCACACACACACAGAGAGAGAGAGA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS14_chr10_70667506_70767441	70686128	CTGCTTTC others(17): Show CTGCTTTCAGTAGCATGGCTGATGG	C C	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0040 a0008c0011t0005g0040	1	354	0.0028	-24	c.522 others(43): Show c.522+11134_522+11157delTGCTTTCAGTAGCATGGCTGATGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21			chr10	TogoVar
ADAMTS16_chr5_5135330_5325304	5227505	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02965.hp2 others(2): Show HG02451.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0009 a0004c0024 a0002c0002 a0004c0009 a0004c0024	a0002c0002t0028 a0004c0009t0009 a0004c0009t0040 others(1): Show a0002c0002t0028 a0004c0009t0009 a0004c0009t0040 a0004c0024t0009	a0002c0002t0028g0206 a0004c0009t0009g0134 a0004c0009t0040g0135 others(2): Show a0002c0002t0028g0206 a0004c0009t0009g0134 a0004c0009t0040g0135 a0004c0024t0009g0097 a0004c0024t0009g0101	5	332	0.0151	-24	c.170 others(43): Show c.1701+4641_1701+4664delGTGTGTGTGTGTGTGTGTGTGTGT	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	99977349	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0196 a0009c0027t0001g0196	1	228	0.0044	-24	c.295 others(43): Show c.2950-1151_2950-1128delATATATATATATATATATATATAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100223724	GTATATAT others(17): Show GTATATATACACATGTATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02486.hp1 HG02572.hp1 others(1): Show HG01261.hp2 HG02486.hp1 HG02572.hp1 HG03579.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0018 a0002c0050 a0002c0051 others(1): Show a0001c0018 a0002c0050 a0002c0051 a0005c0020	a0001c0018t0016 a0002c0050t0006 a0002c0051t0015 others(1): Show a0001c0018t0016 a0002c0050t0006 a0002c0051t0015 a0005c0020t0017	a0001c0018t0016g0223 a0002c0050t0006g0107 a0002c0051t0015g0090 others(1): Show a0001c0018t0016g0223 a0002c0050t0006g0107 a0002c0051t0015g0090 a0005c0020t0017g0198	4	228	0.0175	-24	c.107 others(45): Show c.1076-24325_1076-24302delTATACACATACATGTGTATATATA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21			chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77334088	ATATATTA others(17): Show ATATATTATATATAATATATAGTGT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18962.hp2 NA19081.hp2 HG01516.hp1 NA18962.hp2 NA19081.hp2	a0006 a0009 a0006 a0009	a0006c0005 a0009c0009 a0006c0005 a0009c0009	a0006c0005t0037 a0009c0009t0001 a0009c0009t0014 a0006c0005t0037 a0009c0009t0001 a0009c0009t0014	a0006c0005t0037g0299 a0009c0009t0001g0286 a0009c0009t0014g0285 a0006c0005t0037g0299 a0009c0009t0001g0286 a0009c0009t0014g0285	3	326	0.0092	-24	c.185 others(43): Show c.1859+1644_1859+1667delACACTATATATTATATATAATATA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77436012	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG03041.hp1 HG01884.hp2 HG02723.hp1 HG03041.hp1	a0001 a0004 a0021 a0001 a0004 a0021	a0001c0024 a0004c0029 a0021c0028 a0001c0024 a0004c0029 a0021c0028	a0001c0024t0021 a0004c0029t0022 a0021c0028t0031 a0001c0024t0021 a0004c0029t0022 a0021c0028t0031	a0001c0024t0021g0304 a0004c0029t0022g0305 a0021c0028t0031g0306 a0001c0024t0021g0304 a0004c0029t0022g0305 a0021c0028t0031g0306	3	326	0.0092	-24	c.-13 others(35): Show c.-1341_-1318delCACACACACACACACACACACACA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding		979		chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129702955	TATATATA others(17): Show TATATATATATATATATACAAATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02572.hp1 others(6): Show HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03209.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0004 a0001c0001 a0001c0008 a0002c0004	a0001c0001t0002 a0001c0008t0002 a0002c0004t0002 a0001c0001t0002 a0001c0008t0002 a0002c0004t0002	a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0046 others(6): Show a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0008t0002g0013 a0002c0004t0002g0091 a0002c0004t0002g0092	9	226	0.0398	-24	c.316 others(43): Show c.3160-1273_3160-1250delATATATACAAATACATATATATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129733944	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01167.hp2 others(15): Show HG00639.hp1 HG00642.hp1 HG01167.hp2 HG01884.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0010 a0001c0003t0010 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0003t0010 a0001c0009t0001 a0002c0002t0011 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0010g0029 a0001c0003t0010g0202 a0001c0009t0001g0010 a0002c0002t0011g0222 a0002c0004t0001g0094 a0002c0004t0001g0099	18	226	0.0797	-24	c.331 others(41): Show c.3313-965_3313-942delGTGTGTGTGTGTGTGTGTGTGTGT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43514560	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0277 a0001c0002t0002g0277	1	306	0.0033	-24	c.614 others(43): Show c.614-12179_614-12156delTTTTTTTTTTTTTTTTTTTTTTTT	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	3/38			chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179277433	ACCGCCCC others(17): Show ACCGCCCCCGAGACCAAAGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02109.hp1 HG02630.hp1 others(1): Show HG02074.hp2 HG02109.hp1 HG02630.hp1 HG02895.hp1	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0036	a0002c0030 a0003c0109 a0008c0010 others(1): Show a0002c0030 a0003c0109 a0008c0010 a0036c0081	a0002c0030t0011 a0003c0109t0012 a0008c0010t0003 others(1): Show a0002c0030t0011 a0003c0109t0012 a0008c0010t0003 a0036c0081t0028	a0002c0030t0011g0128 a0003c0109t0012g0203 a0008c0010t0003g0243 others(1): Show a0002c0030t0011g0128 a0003c0109t0012g0203 a0008c0010t0003g0243 a0036c0081t0028g0053	4	276	0.0145	-24	c.535 others(41): Show c.535-4393_535-4370delGTCAGCCTTTGGTCTCGGGGGCGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277541	GACCAAAG others(17): Show GACCAAAGGCTGACCCCCCCGCGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG01081.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0011 a0001c0004t0001g0190 a0001c0001t0001g0011 a0001c0004t0001g0190	2	276	0.0073	-24	c.535 others(41): Show c.535-4501_535-4478delTTCGCGGGGGGGTCAGCCTTTGGT	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179278097	CACCCCCG others(17): Show CACCCCCGAGACAAAAGGCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0001 a0001c0064t0001	a0001c0064t0001g0057 a0001c0064t0001g0057	1	276	0.0036	-24	c.535 others(41): Show c.535-5057_535-5034delTGGTCAGCCTTTTGTCTCGGGGGT	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72389911	TAATGATA others(17): Show TAATGATAAGGAGAGAGAGAAGGAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00609.hp2 others(76): Show HG00140.hp2 HG00408.hp1 HG00609.hp2 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG03130.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0001c0017 a0002c0002 a0004c0010 a0007c0013 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0001t0028 a0001c0003t0003 a0001c0004t0022 a0001c0012t0001 a0001c0017t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0027 a0004c0010t0003 a0007c0013t0001 a0008c0019t0001	a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0105 others(76): Show a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0004g0178 a0001c0001t0005g0012 a0001c0001t0005g0016 a0001c0001t0011g0002 a0001c0001t0014g0005 a0001c0001t0023g0064 a0001c0001t0028g0145 a0001c0003t0003g0022 a0001c0004t0022g0035 a0001c0012t0001g0080 a0001c0017t0001g0098 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0144 a0002c0002t0003g0060 a0002c0002t0004g0102 a0002c0002t0004g0131 a0002c0002t0005g0014 a0002c0002t0005g0015 a0002c0002t0027g0137 a0004c0010t0003g0039 a0007c0013t0001g0088 a0008c0019t0001g0119	79	182	0.4341	-24	c.661 others(43): Show c.661+24880_661+24903delTTCCTTCTCTCTCTCCTTATCATT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72450962	AGGCAAAA others(17): Show AGGCAAAAAGAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02630.hp2 others(2): Show HG02258.hp1 HG02280.hp1 HG02630.hp2 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0008 a0001c0001t0001 a0001c0003t0001 a0001c0004t0008	a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0003t0001g0090 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0003t0001g0090 a0001c0004t0008g0017 a0001c0004t0008g0018	5	182	0.0275	-24	c.505 others(43): Show c.505-36015_505-35992delCTCTTCTCTTCTCTTCTTTTTGCC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72526733	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02004.hp1 HG02622.hp2 others(8): Show HG01167.hp1 HG02004.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG03540.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0012 a0001c0001 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0004t0008 a0001c0012t0001	a0001c0001t0001g0083 a0001c0001t0001g0171 a0001c0001t0007g0082 others(8): Show a0001c0001t0001g0083 a0001c0001t0001g0171 a0001c0001t0007g0082 a0001c0001t0007g0179 a0001c0001t0019g0033 a0001c0001t0026g0162 a0001c0001t0030g0181 a0001c0001t0032g0148 a0001c0004t0008g0017 a0001c0004t0008g0018 a0001c0012t0001g0080	11	182	0.0604	-24	c.504 others(43): Show c.504+21721_504+21744delATATATATATATATATATATATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550039	AGAAGAGG others(17): Show AGAAGAGGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18960.hp2 HG00609.hp1 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0101 a0002c0002t0004g0100 a0002c0002t0001g0101 a0002c0002t0004g0100	2	182	0.0110	-24	c.98- others(39): Show c.98-1179_98-1156delCTCTTCCTCTTCCTCTTCCTCTTC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS6_chr5_65143738_65486920	65230601	ATATGAAA others(17): Show ATATGAAATATATATAACACATATG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	204	0.0049	-24	c.193 others(43): Show c.1934-4406_1934-4383delCATATGTGTTATATATATTTCATA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65275353	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01167.hp2 others(1): Show HG00621.hp1 HG00621.hp2 HG01167.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0067 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0067 a0001c0001t0001g0143 a0001c0001t0002g0071	4	204	0.0196	-24	c.151 others(43): Show c.1513-1930_1513-1907delTTCTTTCTTTCTTTCTTTCTTTCT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	11/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65313128	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG01256.hp1 others(19): Show HG00323.hp1 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01884.hp2 HG01993.hp2 HG02027.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02280.hp2 HG03540.hp1 NA18942.hp2 NA18947.hp2 NA18953.hp2 NA18971.hp1 NA18973.hp1 NA18984.hp2 NA19001.hp1 NA19058.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(19): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0136 a0001c0001t0001g0184 a0001c0001t0003g0037 a0001c0001t0003g0041 a0001c0001t0003g0089 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0154 a0001c0001t0005g0201 a0001c0001t0012g0098 a0001c0003t0001g0040	22	204	0.1078	-24	c.122 others(45): Show c.1224-13021_1224-12998delGTGTGTGTGTGTGTGTGTGTGTGT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	9/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65398781	CAAGAAAG others(17): Show CAAGAAAGAAAGAAAGAAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18943.hp1 NA18522.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0160 a0001c0001t0003g0059 a0001c0001t0002g0160 a0001c0001t0003g0059	2	204	0.0098	-24	c.107 others(45): Show c.1073+52670_1073+52693delTCTTTCTTTCTTTCTTTCTTTCTT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	7/24			chr5	TogoVar
ADAMTSL1_chr9_18469153_18915950	18756076	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0028 a0002c0001t0028	a0002c0001t0028g0028 a0002c0001t0028g0028	1	218	0.0046	-24	c.221 others(43): Show c.2217+2592_2217+2615delTATATATATATATATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	16/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18886164	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02451.hp1 others(1): Show HG01516.hp1 HG01517.hp2 HG02451.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0055 a0002c0001 a0001c0005 a0001c0055 a0002c0001	a0001c0005t0007 a0001c0055t0002 a0002c0001t0028 a0001c0005t0007 a0001c0055t0002 a0002c0001t0028	a0001c0005t0007g0214 a0001c0005t0007g0215 a0001c0055t0002g0209 others(1): Show a0001c0005t0007g0214 a0001c0005t0007g0215 a0001c0055t0002g0209 a0002c0001t0028g0028	4	218	0.0184	-24	c.425 others(43): Show c.4250-1665_4250-1642delGTATATATATATATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133557957	GGGGGCTT others(17): Show GGGGGCTTGTCAGGGGCTGCCCTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01496.hp2 others(27): Show HG00140.hp1 HG00738.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG06807.hp2 NA20805.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0011 a0001c0013 others(5): Show a0001c0001 a0001c0011 a0001c0013 a0001c0016 a0001c0021 a0001c0023 a0003c0036 a0007c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0011t0001 a0001c0013t0001 a0001c0016t0001 a0001c0021t0016 a0001c0023t0001 a0003c0036t0001 a0007c0030t0013	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0043 others(27): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0002g0017 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0035 a0001c0001t0004g0079 a0001c0001t0004g0150 a0001c0001t0007g0112 a0001c0001t0009g0001 a0001c0001t0014g0118 a0001c0011t0001g0007 a0001c0011t0001g0029 a0001c0011t0001g0062 a0001c0013t0001g0015 a0001c0016t0001g0087 a0001c0021t0016g0129 a0001c0023t0001g0119 a0003c0036t0001g0113 a0007c0030t0013g0083	30	152	0.1974	-24	c.164 others(43): Show c.1649+2031_1649+2054delGCTTGTCAGGGGCTGCCCTTTGGG	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133563946	AGAGAGAG others(17): Show AGAGAGAGAGAGGGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0001 a0001	a0001c0019 a0001c0035 a0001c0019 a0001c0035	a0001c0019t0006 a0001c0035t0003 a0001c0019t0006 a0001c0035t0003	a0001c0019t0006g0117 a0001c0035t0003g0020 a0001c0019t0006g0117 a0001c0035t0003g0020	2	152	0.0132	-24	c.174 others(43): Show c.1747+2663_1747+2686delGGAGAGAGAGAGGGAGAGAGAGAG	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar

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