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
ADGRD1_chr12_130948907_131146469	131136334	GCAGGATC others(6): Show GCAGGATCCTGACC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0180 a0001c0020t0002g0180	1	242	0.0041	-13	c.239 others(30): Show c.2394+173_2394+185delAGGATCCTGACCC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRE2_chr19_14727392_14783560	14766831	GTGAATCC others(6): Show GTGAATCCTTAGGC	G G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0026 a0003c0003t0002g0026	1	218	0.0046	-13	c.487 others(28): Show c.487+134_487+146delGCCTAAGGATTCA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	6/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14770669	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	218	0.0046	-13	c.355 others(30): Show c.355+1660_355+1672delAAAAAAAAAAAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	5/20			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620568	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01358.hp1 HG01361.hp2 others(3): Show HG01167.hp1 HG01358.hp1 HG01361.hp2 HG02300.hp1 HG03195.hp2 HG03239.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0105 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0145 a0004c0004t0001g0339	6	372	0.0161	-13	c.192 others(32): Show c.1921-1110_1921-1098delAAAAAAAAAAAAA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14661895	AAAACAAA others(6): Show AAAACAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0235 a0007c0010t0001g0235	1	372	0.0027	-13	c.355 others(26): Show c.355+55_355+67delGTTTGTTTTGTTT	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	4/15			chr19	TogoVar
ADGRE5_chr19_14376444_14413723	14403864	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0238 a0003c0003t0001g0238	1	374	0.0027	-13	c.145 others(30): Show c.1450-502_1450-490delTTTTTTTTTTTTT	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRF1_chr6_46992708_47047332	47031257	GTCTCTCT others(6): Show GTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0111 a0013c0023t0001g0111	1	400	0.0025	-13	c.-43 others(30): Show c.-43-2166_-43-2154delAGAGAGAGAGAGA	ADGRF1	ENSG00000153292.16	transcript	ENST00000371253.7	protein_coding	1/14			chr6	TogoVar
ADGRF4_chr6_47693580_47727014	47696128	TCCTTCCT others(6): Show TCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	394	0.0025	-13	c.-26 others(24): Show c.-2682_-2670delCCTTCCTTCCTTC	ADGRF4	ENSG00000153294.12	transcript	ENST00000283303.3	protein_coding		2451		chr6	TogoVar
ADGRF5_chr6_46847522_46926938	46877365	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG02602.hp1 others(4): Show HG01496.hp1 HG02109.hp2 HG02602.hp1 HG03139.hp2 HG03927.hp1 NA18522.hp2 NA18954.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0008 a0005c0015	a0001c0001t0001 a0002c0002t0016 a0003c0003t0013 others(2): Show a0001c0001t0001 a0002c0002t0016 a0003c0003t0013 a0004c0008t0009 a0005c0015t0001	a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0288 others(4): Show a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0288 a0002c0002t0016g0009 a0003c0003t0013g0090 a0004c0008t0009g0096 a0005c0015t0001g0233	7	382	0.0183	-13	c.124 others(30): Show c.1240+824_1240+836delAGAAAGAAAGAAA	ADGRF5	ENSG00000069122.19	transcript	ENST00000283296.12	protein_coding	10/20			chr6	TogoVar
ADGRF5_chr6_46847522_46926938	46893058	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG03453.hp1 others(2): Show HG02647.hp1 HG02965.hp1 HG03453.hp1 NA19043.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0019 a0003c0003t0004 a0003c0003t0019	a0003c0003t0004g0162 a0003c0003t0004g0163 a0003c0003t0004g0164 others(2): Show a0003c0003t0004g0162 a0003c0003t0004g0163 a0003c0003t0004g0164 a0003c0003t0004g0165 a0003c0003t0019g0016	5	382	0.0131	-13	c.158 others(30): Show c.158-4566_158-4554delAAAAAAAAAAAAA	ADGRF5	ENSG00000069122.19	transcript	ENST00000283296.12	protein_coding	3/20			chr6	TogoVar
ADGRG3_chr16_57663306_57694378	57686110	CGTTTGTG others(6): Show CGTTTGTGTTACTA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	448	0.0022	-13	c.154 others(30): Show c.1540+186_1540+198delTTTGTGTTACTAG	ADGRG3	ENSG00000182885.17	transcript	ENST00000333493.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADGRL1_chr19_14142743_14211169	14204004	GCGCACAC others(6): Show GCGCACACGTATGT	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0217	1	222	0.0045	-13	c.-96 others(30): Show c.-96+1968_-96+1980delACATACGTGTGCG	ADGRL1	ENSG00000072071.17	transcript	ENST00000361434.8	protein_coding	1/22			chr19	TogoVar
ADGRL1_chr19_14142743_14211169	14209365	AAAACCCC others(6): Show AAAACCCCAGCCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	222	0.0045	-13	c.-34 others(24): Show c.-3489_-3477delCCGGCTGGGGTTT	ADGRL1	ENSG00000072071.17	transcript	ENST00000361434.8	protein_coding		3197		chr19	TogoVar
ADGRL2_chr1_81795934_81998932	81993072	TATATATA others(6): Show TATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02132.hp1 HG03239.hp1 others(2): Show HG00544.hp2 HG02132.hp1 HG03239.hp1 NA18975.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0006 a0001c0001 a0001c0008 a0004c0006	a0001c0001t0026 a0001c0001t0039 a0001c0008t0039 others(1): Show a0001c0001t0026 a0001c0001t0039 a0001c0008t0039 a0004c0006t0026	a0001c0001t0026g0051 a0001c0001t0026g0128 a0001c0001t0039g0220 others(2): Show a0001c0001t0026g0051 a0001c0001t0026g0128 a0001c0001t0039g0220 a0001c0008t0039g0095 a0004c0006t0026g0265	5	306	0.0163	-13	c.19 others(24): Show c.1928_*1940delATATATATATATA	ADGRL2	ENSG00000117114.21	transcript	ENST00000686636.1	protein_coding	24/24	1928		chr1	TogoVar
ADGRL2_chr1_81795934_81998932	81993074	TATATATA others(6): Show TATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03704.hp1 HG03017.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0092 a0001c0001t0036g0221 a0001c0001t0036g0092 a0001c0001t0036g0221	2	306	0.0065	-13	c.19 others(24): Show c.1930_*1942delATATATATATATA	ADGRL2	ENSG00000117114.21	transcript	ENST00000686636.1	protein_coding	24/24	1930		chr1	TogoVar
ADGRL2_chr1_81795934_81998932	81993075	ATATATAT others(6): Show ATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0038 a0001c0001t0147g0038	1	306	0.0033	-13	c.19 others(24): Show c.1932_*1944delATATATATATATT	ADGRL2	ENSG00000117114.21	transcript	ENST00000686636.1	protein_coding	24/24	1932	INFO_REALIGN_3_PRIME	chr1	TogoVar
ADGRL2_chr1_81795934_81998932	81993085	ATATTTTT others(6): Show ATATTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp2 NA19058.hp1 NA19011.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0144 a0001c0001t0051g0146 a0001c0001t0051g0144 a0001c0001t0051g0146	2	306	0.0065	-13	c.19 others(24): Show c.1942_*1954delATTTTTTTTTTTT	ADGRL2	ENSG00000117114.21	transcript	ENST00000686636.1	protein_coding	24/24	1942	INFO_REALIGN_3_PRIME	chr1	TogoVar
ADGRL2_chr1_81795934_81998932	81993087	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0172 a0001c0001t0134g0172	1	306	0.0033	-13	c.19 others(24): Show c.1962_*1974delTTTTTTTTTTTTT	ADGRL2	ENSG00000117114.21	transcript	ENST00000686636.1	protein_coding	24/24	1962	INFO_REALIGN_3_PRIME	chr1	TogoVar
ADGRL3_chr4_61195326_62083335	61428864	TATCTATC others(6): Show TATCTATCTATATC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp2 HG03540.hp2 HG01243.hp2 HG02809.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0031 a0001c0001t0038 a0001c0014t0036 a0001c0001t0031 a0001c0001t0038 a0001c0014t0036	a0001c0001t0031g0050 a0001c0001t0038g0007 a0001c0014t0036g0048 a0001c0001t0031g0050 a0001c0001t0038g0007 a0001c0014t0036g0048	3	58	0.0517	-13	c.-17 others(34): Show c.-174+45686_-174+45698delATCATCTATCTAT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61428881	TATCTATC others(6): Show TATCTATCTATATC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01169.hp2 others(5): Show HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01884.hp1 HG03579.hp2 HG03710.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0011 a0002c0015	a0001c0001t0005 a0001c0002t0033 a0001c0003t0007 others(5): Show a0001c0001t0005 a0001c0002t0033 a0001c0003t0007 a0001c0004t0025 a0001c0005t0027 a0001c0009t0023 a0001c0011t0007 a0002c0015t0001	a0001c0001t0005g0034 a0001c0002t0033g0058 a0001c0003t0007g0039 others(5): Show a0001c0001t0005g0034 a0001c0002t0033g0058 a0001c0003t0007g0039 a0001c0004t0025g0010 a0001c0005t0027g0011 a0001c0009t0023g0043 a0001c0011t0007g0040 a0002c0015t0001g0044	8	58	0.1379	-13	c.-17 others(34): Show c.-174+45703_-174+45715delATCATCTATCTAT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61869961	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0004 a0001c0001t0020g0004	1	58	0.0172	-13	c.148 others(34): Show c.1481-22694_1481-22682delGAGAGAGAGAGAG	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26			chr4	TogoVar
ADGRL4_chr1_78884764_79011730	78903962	TAAATAAA others(6): Show TAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01070.hp1 others(7): Show HG00642.hp1 HG00735.hp1 HG01070.hp1 HG01175.hp1 HG02735.hp1 HG03490.hp2 HG03492.hp1 HG03927.hp2 NA18747.hp2 NA19064.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0001 a0003c0003t0009 a0003c0003t0016 others(1): Show a0003c0003t0001 a0003c0003t0009 a0003c0003t0016 a0007c0007t0001	a0003c0003t0001g0105 a0003c0003t0001g0120 a0003c0003t0001g0130 others(6): Show a0003c0003t0001g0105 a0003c0003t0001g0120 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0133 a0003c0003t0001g0335 a0003c0003t0009g0336 a0003c0003t0016g0107 a0007c0007t0001g0005	10	390	0.0256	-13	c.175 others(34): Show c.1750-10786_1750-10774delTATTTATTTATTT	ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	12/14			chr1	TogoVar
ADGRL4_chr1_78884764_79011730	78930447	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	390	0.0026	-13	c.878 others(30): Show c.878-3369_878-3357delAAAAAAAAAAAAA	ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	7/14			chr1	TogoVar
ADGRL4_chr1_78884764_79011730	78966335	TCCATTAT others(6): Show TCCATTATTCTCAA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0095 a0001c0001t0011g0095	1	390	0.0026	-13	c.173 others(32): Show c.173-19922_173-19910delTTGAGAATAATGG	ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	2/14			chr1	TogoVar
ADGRL4_chr1_78884764_79011730	78998362	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02647.hp1 HG02976.hp1 others(5): Show HG01358.hp2 HG02647.hp1 HG02976.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG06807.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0011 a0001c0001 a0013c0011	a0001c0001t0001 a0001c0001t0003 a0013c0011t0001 a0001c0001t0001 a0001c0001t0003 a0013c0011t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0283 others(4): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0283 a0001c0001t0003g0003 a0001c0001t0003g0262 a0001c0001t0003g0263 a0013c0011t0001g0153	8	390	0.0205	-13	c.172 others(30): Show c.172+6695_172+6707delAAAAAAAAAAAAA	ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	2/14			chr1	TogoVar
ADGRV1_chr5_90553797_91169437	90569372	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	158	0.0063	-13	c.22+ others(30): Show c.22+10456_22+10468delATATATATATATA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	1/89			chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90569375	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	158	0.0063	-13	c.22+ others(30): Show c.22+10460_22+10472delATATATATATATT	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	1/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90569385	ATATTTTT others(6): Show ATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0054 a0054	a0054c0057 a0054c0057	a0054c0057t0001 a0054c0057t0001	a0054c0057t0001g0145 a0054c0057t0001g0145	1	158	0.0063	-13	c.22+ others(30): Show c.22+10470_22+10482delATTTTTTTTTTTT	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	1/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90569387	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0046 a0046	a0046c0067 a0046c0067	a0046c0067t0001 a0046c0067t0001	a0046c0067t0001g0144 a0046c0067t0001g0144	1	158	0.0063	-13	c.22+ others(30): Show c.22+10486_22+10498delTTTTTTTTTTTTT	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	1/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90669724	TTGTTTGA others(6): Show TTGTTTGAGGTATG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02257.hp1 others(4): Show HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG03453.hp2 NA18906.hp2 NA19030.hp1	a0016 a0017 a0056 others(2): Show a0016 a0017 a0056 a0057 a0058	a0016c0009 a0017c0029 a0017c0030 others(3): Show a0016c0009 a0017c0029 a0017c0030 a0056c0054 a0057c0028 a0058c0075	a0016c0009t0001 a0017c0029t0001 a0017c0030t0001 others(3): Show a0016c0009t0001 a0017c0029t0001 a0017c0030t0001 a0056c0054t0001 a0057c0028t0001 a0058c0075t0001	a0016c0009t0001g0148 a0016c0009t0001g0149 a0017c0029t0001g0150 others(4): Show a0016c0009t0001g0148 a0016c0009t0001g0149 a0017c0029t0001g0150 a0017c0030t0001g0151 a0056c0054t0001g0142 a0057c0028t0001g0153 a0058c0075t0001g0056	7	158	0.0443	-13	c.475 others(32): Show c.4753-2806_4753-2794delTTTGAGGTATGTG	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	21/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	90722716	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19043.hp2 HG02818.hp2 NA19043.hp2	a0011 a0072 a0011 a0072	a0011c0013 a0072c0096 a0011c0013 a0072c0096	a0011c0013t0001 a0072c0096t0001 a0011c0013t0001 a0072c0096t0001	a0011c0013t0001g0024 a0072c0096t0001g0146 a0011c0013t0001g0024 a0072c0096t0001g0146	2	158	0.0127	-13	c.974 others(32): Show c.9748+1685_9748+1697delAAAAAAAAAAAAA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	45/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	91077361	TGTGCCTG others(6): Show TGTGCCTGACAACA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02486.hp1 HG02818.hp2 others(2): Show HG00741.hp2 HG02486.hp1 HG02818.hp2 HG03195.hp1 HG03209.hp2	a0001 a0007 a0011 others(2): Show a0001 a0007 a0011 a0035 a0073	a0001c0012 a0007c0019 a0011c0013 others(2): Show a0001c0012 a0007c0019 a0011c0013 a0035c0090 a0073c0097	a0001c0012t0001 a0007c0019t0001 a0011c0013t0001 others(2): Show a0001c0012t0001 a0007c0019t0001 a0011c0013t0001 a0035c0090t0004 a0073c0097t0001	a0001c0012t0001g0058 a0007c0019t0001g0064 a0011c0013t0001g0024 others(2): Show a0001c0012t0001g0058 a0007c0019t0001g0064 a0011c0013t0001g0024 a0035c0090t0004g0100 a0073c0097t0001g0147	5	158	0.0317	-13	c.183 others(34): Show c.18310+4759_18310+4771delTGCCTGACAACAG	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	86/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADH7_chr4_99407263_99440342	99438831	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	416	0.0024	-13	c.-36 others(24): Show c.-3611_-3599delTTTTTTTTTTTTT	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding		3490		chr4	TogoVar
ADI1_chr2_3492366_3524531	3516474	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp1 HG01243.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	2	392	0.0051	-13	c.121 others(30): Show c.121-2511_121-2499delTTTTTTTTTTTTT	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	1/3			chr2	TogoVar
ADIPOR2_chr12_1686070_1793674	1752917	TCATGTGC others(6): Show TCATGTGCTTGGCC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	378	0.0027	-13	c.-86 others(30): Show c.-86-1338_-86-1326delTGTGCTTGGCCCA	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADIPOR2_chr12_1686070_1793674	1782976	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18995.hp1 NA19056.hp2 HG03041.hp1 NA18995.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0287 a0001c0001t0002g0219 a0001c0001t0006g0234 a0001c0001t0001g0287 a0001c0001t0002g0219 a0001c0001t0006g0234	3	378	0.0079	-13	c.839 others(28): Show c.839-890_839-878delTTTTTTTTTTTTT	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADK_chr10_74146221_74714290	74149267	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02572.hp1 others(6): Show HG01081.hp2 HG01243.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp1 HG02896.hp1 HG02970.hp2 HG03041.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(6): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0002t0004g0136	9	200	0.0450	-13	c.-20 others(24): Show c.-2011_-1999delTTTTTTTTTTTTT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding		1953		chr10	TogoVar
ADK_chr10_74146221_74714290	74185842	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG03195.hp1 others(1): Show HG01884.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027	4	200	0.0200	-13	c.66- others(30): Show c.66-14911_66-14899delAAAAAAAAAAAAA	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74275719	CACAATCT others(6): Show CACAATCTTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	200	0.0050	-13	c.195 others(32): Show c.195-38945_195-38933delAATCTTGGCTTAC	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74302096	TTTTTGTT others(6): Show TTTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG02280.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0183 a0001c0001t0001g0186	2	200	0.0100	-13	c.195 others(32): Show c.195-12566_195-12554delGTTTGTTTGTTTT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74303588	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	200	0.0050	-13	c.195 others(32): Show c.195-11065_195-11053delTTTTTTTTTTTTT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74521298	GTATATTT others(6): Show GTATATTTATAAAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA20129.hp1 HG02970.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0003 a0001c0002t0001g0004	2	200	0.0100	-13	c.556 others(30): Show c.556-3956_556-3944delATATTTATAAAAT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADNP_chr20_50883918_50936437	50913250	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18967.hp1 NA18957.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0095 a0001c0001t0004 a0001c0002t0095	a0001c0001t0004g0208 a0001c0002t0095g0241 a0001c0001t0004g0208 a0001c0002t0095g0241	2	358	0.0056	-13	c.-89 others(30): Show c.-89-8414_-89-8402delTTTTTTTTTTTTT	ADNP	ENSG00000101126.18	transcript	ENST00000621696.5	protein_coding	2/5			chr20	TogoVar
ADORA2B_chr17_15940130_15980746	15940922	ACAAGCCT others(6): Show ACAAGCCTAAGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG01243.hp2 others(18): Show HG00741.hp2 HG01109.hp2 HG01243.hp2 HG01433.hp1 HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0001c0001t0001 a0001c0001t0002 a0002c0002t0005	a0001c0001t0001g0170 a0001c0001t0001g0282 a0001c0001t0002g0006 others(15): Show a0001c0001t0001g0170 a0001c0001t0001g0282 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0286 a0002c0002t0005g0218	21	346	0.0607	-13	c.-43 others(24): Show c.-4326_-4314delCAAGCCTAAGAGG	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		4207		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976089	AAAAAAAA others(6): Show AAAAAAAAAAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	346	0.0029	-13	c.74 others(22): Show c.748_*760delAAAAAAAAAATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		344		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976091	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	346	0.0029	-13	c.75 others(22): Show c.750_*762delAAAAAAAATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		346		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976093	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	346	0.0029	-13	c.75 others(22): Show c.752_*764delAAAAAATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		348		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976095	AAAAATAT others(6): Show AAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	346	0.0029	-13	c.75 others(22): Show c.754_*766delAAAATATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		350		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976099	ATATATAT others(6): Show ATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA19030.hp2 HG02922.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0006 a0001c0001t0001 a0001c0003t0006	a0001c0001t0001g0031 a0001c0003t0006g0300 a0001c0001t0001g0031 a0001c0003t0006g0300	2	346	0.0058	-13	c.75 others(22): Show c.758_*770delTATATATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		354		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976134	TATATATA others(6): Show TATATATAAATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 NA18988.hp1 HG02965.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0207 a0001c0001t0004g0022 a0001c0001t0001g0207 a0001c0001t0004g0022	2	346	0.0058	-13	c.79 others(22): Show c.793_*805delATATATAAATAAA	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		389		chr17	TogoVar

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