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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADCY1_chr7_45569368_45728116	45583937	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19091.hp2 NA19003.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0038 a0001c0001t0006 a0001c0001t0038	a0001c0001t0006g0053 a0001c0001t0038g0054 a0001c0001t0006g0053 a0001c0001t0038g0054	2	278	0.0072	23	c.639 others(40): Show c.639+8761_639+8783dupTTTTTTTTTTTTTTTTTTTTTTT	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45641932	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01433.hp1 HG01515.hp2 others(12): Show HG01358.hp1 HG01433.hp1 HG01515.hp2 HG02074.hp2 HG02683.hp2 HG04115.hp1 NA18944.hp1 NA18948.hp1 NA18959.hp2 NA18966.hp2 NA19004.hp2 NA19010.hp2 NA19058.hp2 NA19080.hp2 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0006c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0034 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0034 a0001c0001t0052 a0001c0002t0003 a0001c0002t0019 a0001c0002t0050 a0001c0002t0061 a0001c0007t0005 a0006c0015t0001	a0001c0001t0001g0228 a0001c0001t0001g0242 a0001c0001t0001g0249 others(12): Show a0001c0001t0001g0228 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0006g0049 a0001c0001t0034g0047 a0001c0001t0052g0256 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0269 a0001c0002t0019g0052 a0001c0002t0050g0260 a0001c0002t0061g0263 a0001c0007t0005g0233 a0006c0015t0001g0243	15	278	0.0540	23	c.102 others(42): Show c.1021-6724_1021-6723insAAAAAAAAAAAAAAAAAAAAAAA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY2_chr5_7391138_7835081	7589511	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0080 a0002c0003t0002g0080	1	140	0.0071	23	c.571 others(42): Show c.571-36654_571-36653insGAAAGAAAGAAAGAAAGAAAGAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7673269	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG03139.hp2 HG02622.hp1 HG02647.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0007 a0002c0003t0004 a0002c0004t0003 a0001c0001t0007 a0002c0003t0004 a0002c0004t0003	a0001c0001t0007g0010 a0002c0003t0004g0003 a0002c0004t0003g0046 a0001c0001t0007g0010 a0002c0003t0004g0003 a0002c0004t0003g0046	3	140	0.0214	23	c.721 others(42): Show c.721-17421_721-17420insAAATATATATATATATATATATA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7673269	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18949.hp2 HG03139.hp1 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0111 a0002c0002t0002g0086 a0001c0001t0001g0111 a0002c0002t0002g0086	2	140	0.0143	23	c.721 others(42): Show c.721-17421_721-17420insATATATATATATATATATATATA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7722960	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	140	0.0071	23	c.170 others(42): Show c.1704-1581_1704-1559dupAAAAAAAAAAAAAAAAAAAAAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY3_chr2_24814169_24925237	24817466	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG04228.hp1 NA19030.hp1 HG02258.hp1 HG04228.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0021 a0002c0007 a0001c0021 a0002c0007	a0001c0021t0005 a0002c0007t0005 a0001c0021t0005 a0002c0007t0005	a0001c0021t0005g0107 a0002c0007t0005g0149 a0002c0007t0005g0207 a0001c0021t0005g0107 a0002c0007t0005g0149 a0002c0007t0005g0207	3	272	0.0110	23	c.24 others(34): Show c.2465_*2466insTTTTTTTTTTTTTTTTTTTTTTT	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding		1702		chr2	TogoVar
ADD3_chr10_110002984_110140565	110062200	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0003 a0011c0016t0003	a0011c0016t0003g0280 a0011c0016t0003g0280	1	288	0.0035	23	c.-29 others(42): Show c.-29-38410_-29-38388dupAAAAAAAAAAAAAAAAAAAAAAA	ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADD3_chr10_110002984_110140565	110065539	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18975.hp2 NA18977.hp2 others(2): Show HG04115.hp1 NA18975.hp2 NA18977.hp2 NA19010.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0184 a0001c0001t0002g0190 others(2): Show a0001c0001t0002g0168 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0240 a0001c0001t0002g0241	5	288	0.0174	23	c.-29 others(42): Show c.-29-35068_-29-35067insTTTTTTTTTTTTTTTTTTTTTTT	ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142499982	T T	TGGCAGCC others(16): Show TGGCAGCCATCTCAGCCGGCCCTA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	310	0.0032	23	c.267 others(42): Show c.2675+9169_2675+9191dupGCAGCCATCTCAGCCGGCCCTAG	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500214	T T	TTCCCCCC others(16): Show TTCCCCCCGCGCCGCTCCTCCACC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0085 a0001c0024t0001g0085	1	310	0.0032	23	c.267 others(42): Show c.2675+9405_2675+9427dupCCGCGCCGCTCCTCCACCTCCCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500220	C C	CCGCGCCG others(16): Show CCGCGCCGCTCCTCCACCTCCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG01109.hp2 others(22): Show HG00438.hp2 HG00733.hp2 HG01109.hp2 HG01256.hp1 HG01496.hp1 HG01952.hp2 HG02135.hp2 HG02300.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG03041.hp1 HG03209.hp2 HG03669.hp2 HG03704.hp1 HG03942.hp2 NA18906.hp1 NA18940.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18983.hp2 NA19002.hp2 NA19063.hp2 NA19066.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0028 a0001c0033 a0007c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0015 a0001c0011t0003 a0001c0028t0002 a0001c0033t0003 a0007c0038t0002	a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0235 others(22): Show a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0130 a0001c0001t0002g0162 a0001c0001t0002g0228 a0001c0001t0002g0301 a0001c0001t0011g0064 a0001c0002t0002g0033 a0001c0002t0002g0042 a0001c0002t0002g0217 a0001c0003t0001g0070 a0001c0003t0001g0187 a0001c0004t0001g0103 a0001c0004t0001g0123 a0001c0004t0015g0011 a0001c0011t0003g0239 a0001c0028t0002g0254 a0001c0033t0003g0027 a0007c0038t0002g0056	25	310	0.0807	23	c.267 others(42): Show c.2675+9489_2675+9511dupACCTCCCCACGCGCCGCTCCTCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500228	C C	CTCCTCCA others(16): Show CTCCTCCACCTCCCCACGCGCCGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp2 HG01993.hp2 others(8): Show HG00673.hp2 HG01167.hp2 HG01993.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02273.hp1 HG02293.hp1 NA18966.hp1 NA18995.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0008t0002	a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0257 others(8): Show a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0257 a0001c0001t0001g0281 a0001c0001t0002g0222 a0001c0002t0001g0129 a0001c0002t0001g0251 a0001c0002t0002g0118 a0001c0002t0002g0225 a0001c0002t0012g0039 a0001c0008t0002g0061	11	310	0.0355	23	c.267 others(42): Show c.2675+9435_2675+9436insGTCCTCCACCTCCCCACGCGCCG	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500266	A A	ACGCGCCG others(16): Show ACGCGCCGCTCCTCCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18962.hp2 NA19240.hp2 HG03041.hp2 NA18962.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0001 a0001c0004t0003	a0001c0001t0001g0247 a0001c0004t0001g0249 a0001c0004t0003g0250 a0001c0001t0001g0247 a0001c0004t0001g0249 a0001c0004t0003g0250	3	310	0.0097	23	c.267 others(42): Show c.2675+9465_2675+9466insCCCGCCCCCCGCGCCGCTCCTCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500312	A A	ACGCGCCG others(16): Show ACGCGCCGCTCCTCCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG02258.hp2 others(1): Show HG00741.hp1 HG01070.hp2 HG02258.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0002g0060 others(1): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0002g0060 a0001c0001t0002g0224	4	310	0.0129	23	c.267 others(42): Show c.2675+9527_2675+9549dupGCTCCTCCCCCGCCCCCCGCGCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500398	C C	CGCCCCCC others(16): Show CGCCCCCCGCGCCTTTCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02257.hp1 others(7): Show HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02970.hp1 HG03516.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0003c0009	a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0001c0007t0007 a0003c0009t0002	a0001c0001t0003g0004 a0001c0003t0001g0055 a0001c0003t0001g0073 others(6): Show a0001c0001t0003g0004 a0001c0003t0001g0055 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0135 a0001c0003t0003g0137 a0001c0007t0007g0240 a0003c0009t0002g0295 a0003c0009t0002g0296	10	310	0.0323	23	c.267 others(42): Show c.2675+9589_2675+9590insCGCGCCTTTCCTCCCCTGCCCCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB3_chr6_68630282_69394506	68897506	A A	AAGGAAGG others(16): Show AAGGAAGGGAGGGAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp2 HG03453.hp2 HG02486.hp2 HG02895.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0072 a0001c0001t0002g0093 a0001c0002t0001g0054 a0001c0001t0001g0072 a0001c0001t0002g0093 a0001c0002t0001g0054	3	120	0.0250	23	c.758 others(42): Show c.758-33046_758-33045insGAGGGAGGAAGGAAAGAGGAAGG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE3_chr19_14614117_14679844	14617340	C C	CTCTTCTT others(16): Show CTCTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0069 a0001c0006t0001g0069	1	372	0.0027	23	c.20 others(34): Show c.2092_*2093insAAGAAAGAAAGAAAGAAAGAAGA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1776		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14617341	C C	CCTTCCTT others(16): Show CCTTCCTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	372	0.0027	23	c.20 others(34): Show c.2091_*2092insAAAGAAAGAAAGAAAGAAGGAAG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1775		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620568	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0293 a0005c0007t0001g0293	1	372	0.0027	23	c.192 others(42): Show c.1921-1098_1921-1097insAAATATATATATATATATATATA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620569	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03516.hp1 HG02895.hp2 HG03516.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0004 a0007c0010t0001g0232 a0001c0001t0001g0004 a0007c0010t0001g0232	2	372	0.0054	23	c.192 others(42): Show c.1921-1099_1921-1098insTATATATATATATATATATATAT	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRG6_chr6_142297007_142451261	142318006	A A	ATATTACA others(16): Show ATATTACATATTTATATATTATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0181 a0002c0003t0002g0181	1	260	0.0039	23	c.103 others(40): Show c.103+8362_103+8363insTATTACATATTTATATATTATAT	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24			chr6	TogoVar
ADGRG6_chr6_142297007_142451261	142338017	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0058 a0001c0001t0005g0059	2	260	0.0077	23	c.103 others(42): Show c.103+28394_103+28395insTTTTTTTTTTTTTTTTTTTTTTT	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRG7_chr3_100604601_100700479	100605908	C C	CTCTTTCT others(16): Show CTCTTTCTTTCTTTCTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	340	0.0029	23	c.-39 others(34): Show c.-3949_-3948insTCTTTCTTTCTTTCTTCTTTCTT	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3692		chr3	TogoVar
ADGRL3_chr4_61195326_62083335	61711458	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0047 a0001c0005t0035g0047	1	58	0.0172	23	c.584 others(42): Show c.584-19164_584-19163insATATATATATATATATATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	6/26			chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61726210	G G	GTTTTTTG others(16): Show GTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0003 a0001c0001t0019g0003	1	58	0.0172	23	c.584 others(40): Show c.584-4405_584-4404insTTTTTTTTTTTTTTTTTTTTTTG	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61726210	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02280.hp1 HG02717.hp2 others(13): Show HG01167.hp2 HG02280.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0014 a0001c0017 a0003c0016	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0020 a0001c0001t0038 a0001c0002t0008 a0001c0002t0033 a0001c0002t0034 a0001c0003t0003 a0001c0004t0009 a0001c0004t0015 a0001c0008t0004 a0001c0014t0036 a0001c0017t0028 a0003c0016t0032	a0001c0001t0002g0014 a0001c0001t0004g0026 a0001c0001t0005g0034 others(13): Show a0001c0001t0002g0014 a0001c0001t0004g0026 a0001c0001t0005g0034 a0001c0001t0016g0002 a0001c0001t0020g0004 a0001c0001t0038g0007 a0001c0002t0008g0022 a0001c0002t0033g0058 a0001c0002t0034g0054 a0001c0003t0003g0009 a0001c0004t0009g0012 a0001c0004t0015g0032 a0001c0008t0004g0023 a0001c0014t0036g0048 a0001c0017t0028g0019 a0003c0016t0032g0053	16	58	0.2759	23	c.584 others(40): Show c.584-4406_584-4405insTTTTTTTTTTTTTTTTTTTTTTT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61844575	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0011 a0001c0005t0027g0011	1	58	0.0172	23	c.148 others(44): Show c.1480+30687_1480+30688insAAATATATATATATATATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61847604	T T	TAATATAT others(16): Show TAATATATTATATATATAATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03710.hp2 HG03209.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0020 a0001c0005t0027 a0001c0001t0020 a0001c0005t0027	a0001c0001t0020g0004 a0001c0005t0027g0011 a0001c0001t0020g0004 a0001c0005t0027g0011	2	58	0.0345	23	c.148 others(44): Show c.1480+33828_1480+33850dupTAAAATATATTATATATATAATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61847717	T T	TAAAATAT others(16): Show TAAAATATATTATATATATAATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0001 a0001c0007t0017g0001	1	58	0.0172	23	c.148 others(44): Show c.1480+33846_1480+33868dupTAATACAAAATATATTATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRV1_chr5_90553797_91169437	91035861	T T	TAAAATAT others(16): Show TAAAATATATATATATATATAATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0051 a0051	a0051c0063 a0051c0063	a0051c0063t0001 a0051c0063t0001	a0051c0063t0001g0050 a0051c0063t0001g0050	1	158	0.0063	23	c.181 others(46): Show c.18153-36586_18153-36585insAAAATATATATATATATATAAT A	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	85/89			chr5	TogoVar
ADH1B_chr4_99299971_99326401	99303215	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 NA19088.hp1 HG04184.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0137 a0001c0001t0002g0002 a0001c0001t0002g0137	2	364	0.0055	23	c.46 others(34): Show c.4624_*4625insAAAAAAAAAAAAAAAAAAAAAAA	ADH1B	ENSG00000196616.15	transcript	ENST00000305046.13	protein_coding		1755		chr4	TogoVar
ADHFE1_chr8_66427504_66473907	66443264	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0229 a0005c0007t0001g0229	1	402	0.0025	23	c.144 others(38): Show c.144+430_144+452dupTTTTTTTTTTTTTTTTTTTTTTT	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADK_chr10_74146221_74714290	74280415	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	200	0.0050	23	c.195 others(42): Show c.195-34252_195-34251insCACACACACACACACACACACAC	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10			chr10	TogoVar
ADM2_chr22_50476543_50491437	50484853	C C	CCCACCCC others(16): Show CCCACCCCCCACCTTCCCCAGCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0071 a0002c0002t0071	a0002c0002t0071g0001 a0002c0002t0071g0001	1	446	0.0022	23	c.19 others(34): Show c.1954_*1955insCCCCCACCTTCCCCAGCAACCAC	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	1955	INFO_REALIGN_3_PRIME	chr22	TogoVar
ADORA2B_chr17_15940130_15980746	15976067	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	346	0.0029	23	c.72 others(32): Show c.725_*726insAAAAAAAAAAAAAAAAAAAAAAA	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		322		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	346	0.0029	23	c.75 others(32): Show c.756_*757insAAAAAAAAAAAAAAAAAAAAAAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0001g0087 a0001c0001t0001g0113	2	346	0.0058	23	c.75 others(32): Show c.756_*757insAAAAAAAAAAAAAAAAAATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 NA18989.hp1 HG02132.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0216 a0001c0001t0001g0111 a0001c0001t0001g0216	2	346	0.0058	23	c.75 others(32): Show c.756_*757insAAAAAAAAAAAATATATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADRA1A_chr8_26763809_26872278	26850025	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAACAAAAAACA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp2 HG01081.hp1 others(10): Show HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01261.hp1 HG02056.hp1 HG02080.hp2 HG02293.hp1 HG03491.hp2 HG03492.hp1 NA18960.hp1 NA19012.hp2 NA19072.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0019 a0001c0001 a0002c0002 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0025 a0001c0001t0032 a0002c0002t0002 a0011c0019t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 others(9): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0012g0291 a0001c0001t0025g0220 a0001c0001t0032g0199 a0002c0002t0002g0009 a0011c0019t0001g0215	13	388	0.0335	23	c.883 others(42): Show c.883+14061_883+14062insTGTTTTTTGTTTTTTTTTTTTTT	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/2			chr8	TogoVar
ADRA1D_chr20_4215630_4254287	4231038	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	452	0.0022	23	c.111 others(42): Show c.1112-8909_1112-8908insGAAAGAAAGAAAGAAAGAAAGAA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4231090	T T	TCTTTCTT others(16): Show TCTTTCTTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01928.hp2 homoSapiens_chm13v2.hp1 HG00597.hp2 HG01928.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213	3	452	0.0066	23	c.111 others(42): Show c.1112-8961_1112-8960insGAGAGAGAGAGAGAGAAAGAAAG	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRM1_chr20_62297997_62313862	62308261	C C	CATGGCCA others(16): Show CATGGCCAGTGCTTCATGTGCCTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	368	0.0027	23	c.101 others(38): Show c.1014+85_1015-83dupTGGCCAGTGCTTCATGTGCCTGA	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309639	T T	TGGGGGGG others(16): Show TGGGGGGGGTGGGAGGGGGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	368	0.0027	23	c.87 others(32): Show c.878_*879insGGGGGGGGTGGGAGGGGGGTGGG	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		778		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309639	T T	TGGGGGGG others(16): Show TGGGGGGGGTGGGAGGGGGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00621.hp2 others(17): Show HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01106.hp2 HG02080.hp1 HG02135.hp2 HG02155.hp2 HG02523.hp2 HG04228.hp2 NA18942.hp2 NA18952.hp1 NA18967.hp2 NA18988.hp2 NA19011.hp1 NA19055.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0067	20	368	0.0544	23	c.87 others(32): Show c.878_*879insGGGGGGGGTGGGAGGGGGTGGGG	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		778		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309639	T T	TGGGGGGG others(16): Show TGGGGGGGTGGGAGGGGGGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02135.hp1 HG01934.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	368	0.0054	23	c.87 others(32): Show c.878_*879insGGGGGGGTGGGAGGGGGGTGGGG	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		778		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309639	T T	TGGGGGGG others(16): Show TGGGGGGGTGGGAGGGGGTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18966.hp1 NA18951.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0005 a0001c0001t0001g0004 a0001c0002t0001g0005	2	368	0.0054	23	c.87 others(32): Show c.878_*879insGGGGGGGTGGGAGGGGGTGGGGG	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		778		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62310692	C C	CGGGAGGC others(16): Show CGGGAGGCCGCCCACAAAGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0021	1	368	0.0027	23	c.19 others(34): Show c.1931_*1932insGGGAGGCCGCCCACAAAGAGGGT	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		1831		chr20	TogoVar
ADSS2_chr1_244403494_244456909	244435168	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	408	0.0025	23	c.355 others(40): Show c.355+1634_355+1656dupTTTTTTTTTTTTTTTTTTTTTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	3/12			chr1	TogoVar
ADSS2_chr1_244403494_244456909	244444514	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03041.hp2 NA18953.hp2 HG01934.hp1 HG03041.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0161 a0001c0001t0004g0052 a0001c0001t0004g0161	3	408	0.0074	23	c.184 others(40): Show c.184-6747_184-6746insTTTTTTTTTTTTTTTTTTTTTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	1/12			chr1	TogoVar

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