Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADAM20_chr14_70517358_70540004	70522703	T T	TAATCCTT others(31): Show TAATCCTTCCATGTTGTTCTTAGGAGGTGGGCCACTATC	frameshift_variant frameshift_variant	HIGH	NA18967.hp2 NA18967.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0099 a0006c0008t0003g0099	1	400	0.0025	38	c.201 others(47): Show c.2017_2054dupGATAGTGGCCCACCTCCTAAGAACAACATGGAAGGA TT	p.Asn others(5): Show p.Asn686fs	ADAM20	ENSG00000134007.5	transcript	ENST00000256389.5	protein_coding	2/2	2438/2784	2054/2181	685/726			chr14	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG01243.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0044 a0001c0001t0030g0168 a0001c0001t0001g0044 a0001c0001t0030g0168	2	230	0.0087	38	c.324 others(57): Show c.324-36161_324-36160insAAAAAAAAAAAATATATATATATATA TATATATATATA		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	230	0.0044	38	c.324 others(57): Show c.324-36161_324-36160insAAAAAAAAAATATATATATATATATA TATATATATATA		ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM23_chr2_206438532_206626127	206477895	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	358	0.0028	38	c.433 others(55): Show c.433-3336_433-3335insTATATATATATATATATATATATATATA TATATATATA		ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAM28_chr8_24289069_24364014	24306351	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18973.hp1 HG02572.hp1 NA18973.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0004 a0003c0006t0002 a0001c0002t0004 a0003c0006t0002	a0001c0002t0004g0235 a0003c0006t0002g0275 a0001c0002t0004g0235 a0003c0006t0002g0275	2	348	0.0058	38	c.151 others(55): Show c.151-3540_151-3539insTATATATATATATATATATATATATATA TATATATATA		ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS14_chr10_70667506_70767441	70759132	T T	TTTTTTTT others(31): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18939.hp2 HG04115.hp1 NA18939.hp2	a0001 a0003 a0001 a0003	a0001c0017 a0003c0016 a0001c0017 a0003c0016	a0001c0017t0004 a0003c0016t0012 a0001c0017t0004 a0003c0016t0012	a0001c0017t0004g0331 a0003c0016t0012g0013 a0001c0017t0004g0331 a0003c0016t0012g0013	2	354	0.0057	38	c.317 others(55): Show c.3178+848_3178+849insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCT		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS15_chr11_130443645_130481645	130470154	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0331 a0001c0002t0001g0331	1	398	0.0025	38	c.172 others(55): Show c.1721-739_1721-738insATATGTGTATATATATATATATATATAT ATATATATAT		ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470200	A A	ATATATGT others(31): Show ATATATGTATATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	398	0.0025	38	c.172 others(55): Show c.1721-715_1721-714insGTATATATATATGTATATATATATATAT ATATGTATAT		ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS17_chr15_99966437_100346975	100313726	T T	TGTCACCA others(31): Show TGTCACCATGAAGAAACGTCAGACAAAACCACCCCAAAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0081 a0001c0002t0004g0081	1	228	0.0044	38	c.616 others(57): Show c.616+17125_616+17162dupGTTTGGGGTGGTTTTGTCTGACGTTT CTTCATGGTGAC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100314030	C C	CGTCACCA others(31): Show CGTCACCATGAAGAAACGTCAGACAAAATCACCCCAAAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0081 a0001c0002t0004g0081	1	228	0.0044	38	c.616 others(57): Show c.616+16858_616+16859insATTTGGGGTGATTTTGTCTGACGTTT CTTCATGGTGAC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100314058	C C	CCACCCCA others(31): Show CCACCCCAAACGTCACCATGAAGAAACGTCAGACAAAAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0034 a0001c0014t0034	a0001c0014t0034g0017 a0001c0014t0034g0017	1	228	0.0044	38	c.616 others(57): Show c.616+16830_616+16831insATTTTGTCTGACGTTTCTTCATGGTG ACGTTTGGGGTG		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21						chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02055.hp2 HG02074.hp1 others(8): Show HG00280.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02622.hp1 HG03041.hp2 HG03540.hp1 HG03927.hp1 NA18967.hp2 NA18977.hp2 NA19054.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0007 a0008 a0010 a0012 a0033	a0001c0001 a0003c0002 a0006c0005 others(5): Show a0001c0001 a0003c0002 a0006c0005 a0007c0021 a0008c0008 a0010c0019 a0012c0012 a0033c0047	a0001c0001t0004 a0001c0001t0016 a0003c0002t0006 others(7): Show a0001c0001t0004 a0001c0001t0016 a0003c0002t0006 a0003c0002t0007 a0006c0005t0003 a0007c0021t0002 a0008c0008t0003 a0010c0019t0024 a0012c0012t0010 a0033c0047t0005	a0001c0001t0004g0139 a0001c0001t0016g0137 a0003c0002t0006g0130 others(8): Show a0001c0001t0004g0139 a0001c0001t0016g0137 a0003c0002t0006g0130 a0003c0002t0007g0110 a0003c0002t0007g0163 a0006c0005t0003g0248 a0007c0021t0002g0002 a0008c0008t0003g0017 a0010c0019t0024g0098 a0012c0012t0010g0255 a0033c0047t0005g0162	11	326	0.0337	38	c.253 others(57): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATATATATATAT		ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22						chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CTTATATA others(31): Show CTTATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0011 a0004c0003t0011	a0004c0003t0011g0106 a0004c0003t0011g0106	1	326	0.0031	38	c.253 others(57): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATATATATATAA		ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22						chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129550024	A A	ATATCTAG others(31): Show ATATCTAGATATACATATACATGTATCTGTATATGTATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18942.hp1 NA19012.hp2 HG01192.hp2 NA18942.hp1 NA19012.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0001 a0002c0002t0001 a0003c0005t0001	a0002c0002t0001g0102 a0002c0002t0001g0104 a0003c0005t0001g0130 a0002c0002t0001g0102 a0002c0002t0001g0104 a0003c0005t0001g0130	3	226	0.0133	38	c.132 others(57): Show c.1329-1394_1329-1357dupGTATATGTATGTATCTAGATATACAT ATACATGTATCT		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129550365	T T	TGTATCTA others(31): Show TGTATCTAGATATACATATACATGTATCTGTATAAGTAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20300.hp1 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0014 a0001c0001t0002 a0001c0016t0014	a0001c0001t0002g0018 a0001c0016t0014g0198 a0001c0001t0002g0018 a0001c0016t0014g0198	2	226	0.0089	38	c.132 others(57): Show c.1329-1466_1329-1465insAGTACGTATCTAGATATACATATACA TGTATCTGTATA		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129645885	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18522.hp1 HG02922.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0047 a0001c0001t0002g0015 a0001c0001t0002g0047	2	226	0.0089	38	c.187 others(57): Show c.1873-1859_1873-1858insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	11/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	306	0.0033	38	c.161 others(57): Show c.1614+1906_1614+1907insAAAAAAAATATATATATATATATATA TATATATATATA		ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38						chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	306	0.0033	38	c.161 others(57): Show c.1614+1906_1614+1907insAAAAAAAAAATATATATATATATATA TATATATATATA		ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38						chr12	TogoVar
ADAMTS3_chr4_72275969_72574221	72455843	C C	CTATATAT others(31): Show CTATATATTTTATATATAGTATATACACTGTATATACTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	182	0.0055	38	c.505 others(57): Show c.505-40910_505-40873dupTAGTATATACAGTGTATATACTATAT ATAAAATATATA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72455906	C C	CACTGTAT others(31): Show CACTGTATATACTATATATATTTTATATATAGTATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	182	0.0055	38	c.505 others(57): Show c.505-40936_505-40935insATATATACTATATATAAAATATATAT AGTATATACAGT		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456345	C C	CTATATAT others(31): Show CTATATATATTTTATATATAGTATATATACTGTATATTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18992.hp1 HG02630.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0008 a0001c0001t0001 a0001c0004t0008	a0001c0001t0001g0113 a0001c0004t0008g0017 a0001c0001t0001g0113 a0001c0004t0008g0017	2	182	0.0110	38	c.505 others(57): Show c.505-41375_505-41374insAAATATACAGTATATATACTATATAT AAAATATATATA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
ADAMTS4_chr1_161179302_161204054	161188883	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp2 HG03209.hp1 NA18959.hp1 HG02083.hp2 HG03209.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0108 a0001c0002t0194 a0001c0002t0195 a0001c0001t0108 a0001c0002t0194 a0001c0002t0195	a0001c0001t0108g0072 a0001c0002t0194g0205 a0001c0002t0195g0206 a0001c0001t0108g0072 a0001c0002t0194g0205 a0001c0002t0195g0206	3	374	0.0080	38	c.22 others(49): Show c.2254_*2255insATATATATATATATATATATATATATATATATAT ATAT		ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9				2254		chr1	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0205 a0003c0020t0001g0205	1	218	0.0046	38	c.64- others(53): Show c.64-1407_64-1406insGTGTATATATATATATATATATATATATAT ATATATAT		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18588884	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0137 a0001c0024t0001g0137	1	218	0.0046	38	c.474 others(57): Show c.474+14637_474+14638insTATATATATATATATATATATATATA TATATATATATA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18886166	G G	GTATGTAT others(31): Show GTATGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0007 a0003c0011t0007	a0003c0011t0007g0183 a0003c0011t0007g0183	1	218	0.0046	38	c.425 others(57): Show c.4250-1662_4250-1661insGTATATATATATATATATATATATAT ATATATATATAT		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(31): Show CATATATACACACATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00621.hp1 others(11): Show HG00099.hp1 HG00597.hp1 HG00621.hp1 HG01123.hp1 HG01261.hp2 HG02145.hp1 HG02155.hp1 HG02572.hp1 HG03195.hp1 NA18948.hp2 NA18964.hp2 NA18968.hp1 NA19002.hp1 NA19062.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0010 a0011 a0043	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0010c0012 a0011c0013 a0043c0026	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001 a0010c0012t0001 a0011c0013t0003 a0043c0026t0001	a0001c0001t0001g0145 a0001c0001t0001g0159 a0002c0002t0001g0054 others(11): Show a0001c0001t0001g0145 a0001c0001t0001g0159 a0002c0002t0001g0054 a0002c0002t0001g0134 a0002c0002t0001g0150 a0002c0002t0001g0152 a0003c0003t0001g0139 a0003c0003t0001g0144 a0006c0006t0001g0108 a0010c0012t0001g0086 a0010c0012t0001g0089 a0011c0013t0003g0130 a0011c0013t0003g0135 a0043c0026t0001g0137	14	274	0.0511	38	c.69+ others(55): Show c.69+18943_69+18944insCACACATATATACATATATATATATATA TATATATATA		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903920	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(28): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG02027.hp1 HG02129.hp2 HG02258.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03704.hp1 NA18906.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18981.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19009.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19077.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0057 a0002c0008 a0001c0001 a0001c0057 a0002c0008	a0001c0001t0001 a0001c0001t0006 a0001c0057t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0057t0001 a0002c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0067 others(28): Show a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0006g0136 a0001c0057t0001g0204 a0002c0008t0001g0035	31	274	0.1131	38	c.170 others(57): Show c.1700+4189_1700+4190insGGAAGGAAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGG		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29						chr15	TogoVar
ADARB2_chr10_1172313_1742525	1514178	A A	AATACATA others(31): Show AATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0004 a0002c0002t0007g0004	1	106	0.0094	38	c.101 others(59): Show c.101-135019_101-135018insATATATATATATATATATATATAT ATATATATATGTAT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1514178	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02615.hp1 others(1): Show HG02080.hp2 HG02109.hp1 HG02615.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0022 a0001c0001t0029 a0001c0003t0001 others(1): Show a0001c0001t0022 a0001c0001t0029 a0001c0003t0001 a0002c0002t0004	a0001c0001t0022g0015 a0001c0001t0029g0031 a0001c0003t0001g0052 others(1): Show a0001c0001t0022g0015 a0001c0001t0029g0031 a0001c0003t0001g0052 a0002c0002t0004g0095	4	106	0.0377	38	c.101 others(59): Show c.101-135019_101-135018insATATATATATATATATATATATAT ATATATATATATAT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1633549	C C	CATCTATC others(31): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0031 a0001c0001t0029g0031	1	106	0.0094	38	c.100 others(59): Show c.100+103464_100+103501dupATAGATAGATAGATAGATAGATAG ATAGATAGATAGAT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1633552	C C	CTATCTAT others(31): Show CTATCTATCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02683.hp1 HG01934.hp1 HG02683.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0006 a0001c0001t0009 a0002c0002t0006	a0001c0001t0009g0055 a0002c0002t0006g0018 a0001c0001t0009g0055 a0002c0002t0006g0018	2	106	0.0189	38	c.100 others(59): Show c.100+103461_100+103498dupTAGATAGATAGATAGATAGATAGA TAGATAGATAGATA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1633556	C C	CTATCTAT others(31): Show CTATCTATCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18982.hp1 HG02055.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0044 a0001c0001t0013 a0002c0002t0044	a0001c0001t0013g0007 a0002c0002t0044g0049 a0001c0001t0013g0007 a0002c0002t0044g0049	2	106	0.0189	38	c.100 others(59): Show c.100+103457_100+103494dupTAGATAGATAGATAGATAGATAGA TAGATAGATAGATA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADCK1_chr14_77795109_77940014	77816881	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG02735.hp2 others(1): Show HG00323.hp1 HG00738.hp1 HG02735.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0004t0002 a0001c0005t0004 a0001c0001t0001 a0001c0004t0002 a0001c0005t0004	a0001c0001t0001g0175 a0001c0001t0001g0279 a0001c0004t0002g0037 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0279 a0001c0004t0002g0037 a0001c0005t0004g0200	4	286	0.0140	38	c.-11 others(55): Show c.-11-2065_-11-2064insATATATATATATATATATATATATATAT ATATATATAT		ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCY2_chr5_7391138_7835081	7557201	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20300.hp2 HG03225.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0002 a0001c0001t0003 a0001c0009t0002	a0001c0001t0003g0008 a0001c0009t0002g0009 a0001c0001t0003g0008 a0001c0009t0002g0009	2	140	0.0143	38	c.570 others(57): Show c.570+36302_570+36303insTATATATATATATATATATATATATA TATATATATATG		ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24						chr5	TogoVar
ADCY2_chr5_7391138_7835081	7673269	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03688.hp2 homoSapiens_chm13v2.hp1 HG01192.hp2 HG03688.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0022 a0003c0011 a0002c0003 a0002c0022 a0003c0011	a0002c0003t0001 a0002c0022t0001 a0003c0011t0012 a0002c0003t0001 a0002c0022t0001 a0003c0011t0012	a0002c0003t0001g0022 a0002c0022t0001g0114 a0003c0011t0012g0138 a0002c0003t0001g0022 a0002c0022t0001g0114 a0003c0011t0012g0138	3	140	0.0214	38	c.721 others(57): Show c.721-17421_721-17420insAAAATATATATATATATATATATATA TATATATATATA		ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	4/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7804040	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0087 a0004c0027t0001g0087	1	140	0.0071	38	c.277 others(55): Show c.2776-511_2776-510insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG		ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY5_chr3_123277296_123454090	123348036	A A	AGTGTGTG others(31): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01361.hp2 others(12): Show HG01109.hp1 HG01167.hp2 HG01361.hp2 HG01993.hp2 HG02004.hp1 HG02083.hp1 HG02809.hp1 HG02897.hp2 HG02976.hp2 HG03471.hp1 HG03491.hp1 HG03710.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0013 a0001c0001 a0001c0003 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0003t0007 a0003c0013t0001	a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0001g0202 others(12): Show a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0079 a0001c0001t0003g0095 a0001c0001t0003g0141 a0001c0001t0026g0188 a0001c0003t0007g0201 a0003c0013t0001g0255	15	260	0.0577	38	c.128 others(55): Show c.1285-134_1285-133insACACACACACACACACACACACACACAC ACACACACAC		ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	2/20						chr3	TogoVar
ADCY5_chr3_123277296_123454090	123396819	C C	CGAGAGAG others(31): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02165.hp2 HG01361.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0205 a0001c0001t0021g0067 a0001c0001t0001g0205 a0001c0001t0021g0067	2	260	0.0077	38	c.113 others(59): Show c.1135-44239_1135-44238insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC		ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20						chr3	TogoVar
ADCY8_chr8_130775301_131045909	130847410	T T	TCATAAAT others(31): Show TCATAAATAAATACCTCTGGGTAGGAGCAGATATCTGTA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	246	0.0041	38	c.247 others(50): Show c.2478_2502+13dupTACAGATATCTGCTCCTACCCAGAGGTATTTAT TTATG		ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	11/17						chr8	TogoVar
ADD1_chr4_2838844_2935062	2852189	T T	TCTTTCTT others(31): Show TCTTTCTTTCTTTCTTTCTTCCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0239 a0004c0006t0001g0239	1	320	0.0031	38	c.-21 others(55): Show c.-21+8174_-21+8175insTTTCTTTCTTCCTTTCTTTCCTTTCTTT CCTTTCTTTC		ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
ADD3_chr10_110002984_110140565	110065539	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18989.hp1 NA18965.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0210 a0001c0004t0001g0201 a0001c0001t0001g0210 a0001c0004t0001g0201	2	288	0.0069	38	c.-29 others(57): Show c.-29-35068_-29-35067insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB3_chr6_68630282_69394506	69219461	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	120	0.0083	38	c.248 others(59): Show c.2481-13797_2481-13796insTATATATATATATATATATATATA TATATATATATATA		ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131032681	A A	ATGACGCT others(31): Show ATGACGCTTATTAGAGAAATCGCCACCCCGTCACAGAGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0007 a0001c0042t0007	a0001c0042t0007g0176 a0001c0042t0007g0176	1	242	0.0041	38	c.147 others(59): Show c.1473+18345_1473+18346insGCTTATTAGAGAAATCGCCACCCC GTCACAGAGGTGAC		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131032725	T T	TTTATTAG others(31): Show TTTATTAGAGAAATCGCCACCCCGTCACAGAGGTGACGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18906.hp1 HG03669.hp2 NA18906.hp1	a0001 a0001	a0001c0023 a0001c0036 a0001c0023 a0001c0036	a0001c0023t0004 a0001c0036t0003 a0001c0023t0004 a0001c0036t0003	a0001c0023t0004g0165 a0001c0036t0003g0075 a0001c0023t0004g0165 a0001c0036t0003g0075	2	242	0.0083	38	c.147 others(59): Show c.1473+18645_1473+18682dupGTGACGCTTATTAGAGAAATCGCC ACCCCGTCACAGAG		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131033013	C C	CGTCACAG others(31): Show CGTCACAGAGGTGACGCTTATTAGAGAAATCGCCACCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0031 a0001c0007 a0003c0031	a0001c0007t0018 a0003c0031t0003 a0001c0007t0018 a0003c0031t0003	a0001c0007t0018g0132 a0003c0031t0003g0089 a0001c0007t0018g0132 a0003c0031t0003g0089	2	242	0.0083	38	c.147 others(59): Show c.1473+18682_1473+18683insGTGACGCTTATTAGAGAAATCGCC ACCCTGTCACAGAG		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRE3_chr19_14614117_14679844	14617341	C C	CCTTTCTT others(31): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0239 a0003c0002t0001g0239	1	372	0.0027	38	c.20 others(49): Show c.2091_*2092insAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG		ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding					1775		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14617341	C C	CCTTTCTT others(31): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	372	0.0027	38	c.20 others(49): Show c.2091_*2092insAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG		ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding					1775		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14617342	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA18950.hp2 HG01243.hp1 NA18950.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0004 a0003c0002 a0004c0004	a0003c0002t0001 a0004c0004t0001 a0003c0002t0001 a0004c0004t0001	a0003c0002t0001g0281 a0004c0004t0001g0325 a0003c0002t0001g0281 a0004c0004t0001g0325	2	372	0.0054	38	c.20 others(49): Show c.2090_*2091insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA		ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding					1774		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14649727	C C	CCTCCCCA others(31): Show CCTCCCCATCTCTCTCTTTCCATCTCTCTCCATCTCTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0232 a0007c0010t0001g0232	1	372	0.0027	38	c.697 others(55): Show c.697+1320_697+1357dupAAAGAGATGGAGAGAGATGGAAAGAGAG AGATGGGGAG		ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	7/15						chr19	TogoVar
ADGRG6_chr6_142297007_142451261	142317705	T T	TATATATA others(31): Show TATATATATTTATATTATATATTAATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0043	1	260	0.0039	38	c.103 others(55): Show c.103+8083_103+8120dupTAATATATATTTATATAATATATATTTA TATTATATAT		ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr6	TogoVar

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