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
AGBL4_chr1_48527854_50028954	48996839	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0060 a0003c0005t0001g0060	1	104	0.0096	21	c.594 others(40): Show c.594+48744_594+48745insAGGAAGGAAGGAAGGAAGGAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49530259	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	104	0.0096	21	c.282 others(42): Show c.282+167053_282+167054insTTTTTTTTTTTTTTTTTTTTT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49971907	G G	GTTGTTTT others(14): Show GTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01943.hp2 others(12): Show HG00639.hp2 HG01167.hp1 HG01943.hp2 HG02055.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02896.hp1 HG02976.hp1 HG03471.hp2 NA18906.hp2 NA18983.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0002t0004 a0001c0004t0003 a0002c0003t0001 a0002c0003t0007 a0002c0003t0008 a0003c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0068 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0004g0065 a0001c0001t0005g0066 a0001c0001t0005g0091 a0001c0001t0008g0047 a0001c0001t0011g0010 a0001c0002t0004g0076 a0001c0004t0003g0064 a0002c0003t0001g0009 a0002c0003t0007g0061 a0002c0003t0008g0088 a0003c0005t0001g0060	15	104	0.1442	21	c.34+ others(38): Show c.34+51855_34+51856insAAAAAAAAAAAAAAAAAACAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15342172	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	236	0.0042	21	c.126 others(42): Show c.1263+23321_1263+23341dupTTTTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15361546	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp1 HG01257.hp1 others(11): Show HG01070.hp2 HG01175.hp1 HG01257.hp1 HG02300.hp1 HG02698.hp1 HG02735.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03669.hp2 HG04184.hp2 HG04228.hp2 NA19030.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0003c0006t0004	a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0073 others(11): Show a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0109 a0001c0001t0001g0161 a0001c0001t0001g0196 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0005g0200 a0001c0003t0001g0141 a0001c0003t0001g0165 a0001c0003t0001g0190 a0003c0006t0004g0076	14	236	0.0593	21	c.126 others(40): Show c.1263+3967_1263+3968insCTTTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15365380	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02258.hp2 HG02486.hp1	a0001 a0006 a0001 a0006	a0001c0011 a0006c0012 a0001c0011 a0006c0012	a0001c0011t0001 a0006c0012t0001 a0001c0011t0001 a0006c0012t0001	a0001c0011t0001g0050 a0006c0012t0001g0222 a0001c0011t0001g0050 a0006c0012t0001g0222	2	236	0.0085	21	c.126 others(38): Show c.1263+133_1263+134insTTTTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGO1_chr1_35878209_35935532	35884287	A A	AGACTGGG others(14): Show AGACTGGGACCGAAGCGATGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02615.hp1 others(2): Show HG02145.hp2 HG02258.hp2 HG02615.hp1 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048	5	278	0.0180	21	c.25+ others(34): Show c.25+842_25+862dupGACTGGGACCGAAGCGATGGG	AGO1	ENSG00000092847.14	transcript	ENST00000373204.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO2_chr8_140515156_140640633	140595821	T T	TTATATAC others(14): Show TTATATACAATTGTATATACAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0064 a0001c0003t0019g0064	1	338	0.0030	21	c.23- others(38): Show c.23-10511_23-10510insTTGTATATACAATTGTATATA	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140597601	G G	GCTCACTC others(14): Show GCTCACTCCTGTCAGCTTCAGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp1 HG02647.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0053 a0001c0001t0029 a0001c0001t0053	a0001c0001t0029g0156 a0001c0001t0053g0155 a0001c0001t0029g0156 a0001c0001t0053g0155	2	338	0.0059	21	c.23- others(38): Show c.23-12311_23-12291dupGCTGAAGCTGACAGGAGTGAG	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO3_chr1_35926105_36077500	35995209	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0013 a0001c0006t0029g0013	1	258	0.0039	21	c.659 others(38): Show c.659-9132_659-9131insTATATATATATATATATATAT	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	5/18			chr1	TogoVar
AGO3_chr1_35926105_36077500	36003709	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	258	0.0039	21	c.659 others(36): Show c.659-631_659-630insAAAAATATATATATATATATA	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGPAT4_chr6_161124967_161279061	161228661	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0140 a0001c0001t0015g0140	1	264	0.0038	21	c.178 others(38): Show c.178+3374_178+3375insTTTTTTTTTTTTTTTTTTTTT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGXT_chr2_240863824_240885500	240883699	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG04228.hp1 HG04228.hp2 others(9): Show HG02080.hp1 HG04228.hp1 HG04228.hp2 NA18957.hp2 NA18966.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19056.hp1	a0002 a0002	a0002c0003 a0002c0027 a0002c0003 a0002c0027	a0002c0003t0005 a0002c0027t0005 a0002c0003t0005 a0002c0027t0005	a0002c0003t0005g0006 a0002c0003t0005g0052 a0002c0003t0005g0120 others(2): Show a0002c0003t0005g0006 a0002c0003t0005g0052 a0002c0003t0005g0120 a0002c0003t0005g0123 a0002c0027t0005g0006	12	444	0.0270	21	c.48 others(32): Show c.4878_*4879insTTTTTTTTTTTTTTTTTTTTT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		3200		chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246834474	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0284 a0003c0003t0001g0284	1	376	0.0027	21	c.63 others(32): Show c.6331_*6332insAAAAAAAAAAAAAAAAAAAAA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding		4623		chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129403860	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0291 a0001c0001t0011g0291	1	292	0.0034	21	c.102 others(38): Show c.1025+386_1025+406dupAAAAAAAAAAAAAAAAAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHDC1_chr1_27529245_27609144	27538400	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0147 a0001c0006t0008g0147	1	180	0.0056	21	c.44 others(38): Show c.44-3485_*44-3484insTTTTTTTTTTTTTTTTTTTTT	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/8			chr1	TogoVar
AHI1_chr6_135278532_135502740	135482894	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG02055.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0010 a0001c0001t0001 a0001c0015t0010	a0001c0001t0001g0055 a0001c0015t0010g0104 a0001c0001t0001g0055 a0001c0015t0010g0104	2	220	0.0091	21	c.135 others(38): Show c.135+7728_135+7729insAAAAAAAAAAAAAAAAAAAAA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHRR_chr5_316714_443285	340689	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	268	0.0037	21	c.-10 others(38): Show c.-10-3204_-10-3203insATATATATATATATATATATA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10			chr5	TogoVar
AHRR_chr5_316714_443285	443229	G G	GGGCGGCG others(14): Show GGGCGGCGGCGGCGGCGGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA19240.hp2 NA18747.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0003 a0004c0003t0037 a0001c0001t0003 a0004c0003t0037	a0001c0001t0003g0212 a0004c0003t0037g0223 a0001c0001t0003g0212 a0004c0003t0037g0223	2	268	0.0075	21	c.83 others(32): Show c.8395_*8396insGGCGGCGGCGGCGGCGGCGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		4945		chr5	TogoVar
AIFM2_chr10_70107271_70137825	70133098	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	468	0.0021	21	c.-37 others(30): Show c.-379_-378insCTCTCTCTCTCTCTCTCTCTC	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding		274		chr10	TogoVar
AIG1_chr6_143055889_143346058	143143526	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	204	0.0049	21	c.297 others(38): Show c.297+6536_297+6537insTATATATATATATATATATAT	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5			chr6	TogoVar
AIG1_chr6_143055889_143346058	143143528	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19084.hp1 NA19083.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0007 a0001c0001t0002 a0001c0002t0007	a0001c0001t0002g0090 a0001c0002t0007g0046 a0001c0001t0002g0090 a0001c0002t0007g0046	2	204	0.0098	21	c.297 others(38): Show c.297+6539_297+6540insAAATATATATATATATATATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	442	0.0023	21	c.135 others(36): Show c.135+477_135+478insAAAAAAAAAAATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	442	0.0023	21	c.135 others(36): Show c.135+477_135+478insAAAAAAAAATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19001.hp1 NA18993.hp2 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0114 a0001c0002t0001g0115	2	442	0.0045	21	c.135 others(36): Show c.135+477_135+478insAAAAAAATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19074.hp1 NA19084.hp1 NA18944.hp1 NA19074.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	3	442	0.0068	21	c.135 others(36): Show c.135+477_135+478insAAAAATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAATAT others(14): Show AAAAATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG03453.hp2 HG02572.hp1 HG02723.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	3	442	0.0068	21	c.135 others(36): Show c.135+477_135+478insAAATATACATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	2	442	0.0045	21	c.135 others(36): Show c.135+477_135+478insAAATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG04204.hp2 HG02896.hp1 HG02896.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0002t0001g0223 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0002t0001g0223	3	442	0.0068	21	c.135 others(36): Show c.135+477_135+478insATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIPL1_chr17_6418738_6440121	6421853	A A	AGAAAAGA others(14): Show AGAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19089.hp1 NA19012.hp2 NA19089.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0006 a0007c0011t0020 a0001c0001t0006 a0007c0011t0020	a0001c0001t0006g0324 a0007c0011t0020g0250 a0001c0001t0006g0324 a0007c0011t0020g0250	2	454	0.0044	21	c.36 others(32): Show c.3606_*3607insCTTTTCTTTTCTTTTCTTTTC	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding		1884		chr17	TogoVar
AIPL1_chr17_6418738_6440121	6427707	G G	GGAGGCGG others(14): Show GGAGGCGGTTATAATCTCCAAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0147 a0001c0002t0003g0147	1	454	0.0022	21	c.465 others(36): Show c.465+590_465+610dupGTTGGAGATTATAACCGCCTC	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	3/5			chr17	TogoVar
AK4_chr1_65143203_65237145	65232856	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0161 a0001c0001t0033g0161	1	300	0.0033	21	c.66 others(32): Show c.6679_*6680insTTTTTTTTTTTTTTTTTTTTT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding		712		chr1	TogoVar
AK5_chr1_77277019_77564966	77368245	A A	AATATATA others(14): Show AATATATATATGTTATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	284	0.0035	21	c.891 others(40): Show c.891+27677_891+27678insATATATATATGTTATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77509178	T T	TACTATAC others(14): Show TACTATACACGGGCACTGATAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02622.hp1 HG02738.hp2 others(4): Show HG01257.hp1 HG02622.hp1 HG02738.hp2 HG02896.hp1 HG03195.hp2 NA19043.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0012	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0098 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0098 a0001c0001t0001g0136 a0001c0001t0003g0229 a0001c0001t0007g0235 a0002c0002t0012g0275	7	284	0.0247	21	c.114 others(40): Show c.1148-9384_1148-9364dupCTATACACGGGCACTGATAAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01256.hp2 others(9): Show HG00323.hp2 HG00642.hp1 HG01256.hp2 HG01981.hp1 NA18960.hp1 NA18961.hp1 NA18971.hp1 NA18974.hp2 NA19005.hp1 NA19007.hp1 NA19066.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0144 a0001c0001t0001g0189 a0001c0001t0002g0045 others(9): Show a0001c0001t0001g0144 a0001c0001t0001g0189 a0001c0001t0002g0045 a0001c0001t0002g0141 a0001c0001t0002g0213 a0002c0002t0002g0001 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0096 a0002c0002t0002g0149 a0002c0002t0002g0231 a0002c0002t0002g0275	12	316	0.0380	21	c.499 others(38): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK9_chr6_109487855_109696202	109549664	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp1 HG01975.hp2 others(12): Show HG00323.hp1 HG01943.hp1 HG01975.hp2 HG02132.hp2 HG02683.hp2 HG03942.hp2 NA18612.hp2 NA18951.hp2 NA18992.hp2 NA19004.hp2 NA19007.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp2 NA19082.hp1	a0005 a0016 a0005 a0016	a0005c0005 a0016c0020 a0005c0005 a0016c0020	a0005c0005t0001 a0016c0020t0001 a0005c0005t0001 a0016c0020t0001	a0005c0005t0001g0254 a0005c0005t0001g0255 a0005c0005t0001g0258 others(12): Show a0005c0005t0001g0254 a0005c0005t0001g0255 a0005c0005t0001g0258 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0266 a0005c0005t0001g0268 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0274 a0005c0005t0001g0275 a0005c0005t0001g0276 a0005c0005t0001g0279 a0005c0005t0001g0281 a0016c0020t0001g0269	15	378	0.0397	21	c.296 others(38): Show c.2964+425_2964+426insAAAAAAAAAAAAAAAAAAAAA	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	25/40			chr6	TogoVar
AKAP12_chr6_151234967_151363559	151304488	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0217 a0001c0003t0001g0217	1	316	0.0032	21	c.163 others(38): Show c.163-1248_163-1228dupAAAAAAAAAAAAAAAAAAAAA	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151312793	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	316	0.0032	21	c.319 others(38): Show c.319+6908_319+6909insAAAAAAAAAAAAAAAAAAAAA	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP13_chr15_85375603_85754355	85442482	A A	ATATATAT others(14): Show ATATATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18983.hp1 HG01074.hp2 NA18983.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0005c0005 a0002c0001 a0005c0005	a0002c0001t0002 a0005c0005t0071 a0002c0001t0002 a0005c0005t0071	a0002c0001t0002g0313 a0005c0005t0071g0263 a0002c0001t0002g0313 a0005c0005t0071g0263	2	314	0.0064	21	c.-11 others(40): Show c.-11-43185_-11-43165dupTATATATAATATATATTATAT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85504503	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03831.hp2 HG02257.hp2 HG03831.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0013 a0002c0001 a0004c0013	a0002c0001t0002 a0004c0013t0050 a0002c0001t0002 a0004c0013t0050	a0002c0001t0002g0020 a0004c0013t0050g0248 a0002c0001t0002g0020 a0004c0013t0050g0248	2	314	0.0064	21	c.34- others(38): Show c.34-16913_34-16893dupAAAAAAAAAAAAAAAAAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85504530	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0043 a0009c0011t0043	a0009c0011t0043g0132 a0009c0011t0043g0132	1	314	0.0032	21	c.34- others(38): Show c.34-16893_34-16892insAAAAAAAAAAAAAAAGAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP17A_chrX_1586604_1607520	1588061	C C	CCCCTCCC others(14): Show CCCCTCCCTTCCCTCCTTCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0090 a0002c0003t0002g0090	1	151	0.0066	21	c.-37 others(32): Show c.-3728_-3727insCCCTCCCTTCCCTCCTTCCAT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3542		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1588066	C C	CCCTTCCC others(14): Show CCCTTCCCTTCCCTTCCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0055 a0002c0003t0002g0055	1	151	0.0066	21	c.-37 others(32): Show c.-3723_-3722insCCTTCCCTTCCCTTCCCCTCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3537		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1588080	T T	TCCCCTCC others(14): Show TCCCCTCCCTTCCCCTCCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0076 a0002c0003t0002g0076	1	151	0.0066	21	c.-37 others(32): Show c.-3709_-3708insCCCCTCCCTTCCCCTCCCTTC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3523		chrX	TogoVar
AKAP1_chr17_57080246_57126344	57119830	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG03098.hp2 others(3): Show HG01433.hp2 HG02145.hp1 HG03098.hp2 HG03516.hp2 HG03654.hp2 HG04199.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0005	a0001c0001t0011 a0001c0002t0005 a0001c0002t0021 others(2): Show a0001c0001t0011 a0001c0002t0005 a0001c0002t0021 a0002c0003t0004 a0005c0005t0007	a0001c0001t0011g0121 a0001c0002t0005g0047 a0001c0002t0021g0068 others(2): Show a0001c0001t0011g0121 a0001c0002t0005g0047 a0001c0002t0021g0068 a0002c0003t0004g0032 a0005c0005t0007g0260	6	396	0.0152	21	c.263 others(38): Show c.2638-400_2638-399insTTTTTTTTTTTTTTTTTTTTT	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
AKAP6_chr14_32324298_32842684	32682995	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03831.hp1 HG03471.hp1 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0010 a0003c0023 a0001c0010 a0003c0023	a0001c0010t0005 a0003c0023t0005 a0001c0010t0005 a0003c0023t0005	a0001c0010t0005g0032 a0003c0023t0005g0014 a0001c0010t0005g0032 a0003c0023t0005g0014	2	154	0.0130	21	c.287 others(40): Show c.2879+4546_2879+4547insTTTGTTTTTGTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32769037	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0019 a0019	a0019c0039 a0019c0039	a0019c0039t0023 a0019c0039t0023	a0019c0039t0023g0142 a0019c0039t0023g0142	1	154	0.0065	21	c.337 others(40): Show c.3373-4634_3373-4614dupTTTTTTTTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32780155	A A	AAACATAT others(14): Show AAACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03704.hp2 HG02257.hp1 HG02717.hp1 HG03704.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0054 a0001c0001 a0002c0002 a0013c0054	a0001c0001t0038 a0002c0002t0001 a0013c0054t0006 a0001c0001t0038 a0002c0002t0001 a0013c0054t0006	a0001c0001t0038g0038 a0002c0002t0001g0001 a0013c0054t0006g0106 a0001c0001t0038g0038 a0002c0002t0001g0001 a0013c0054t0006g0106	3	154	0.0195	21	c.358 others(40): Show c.3588+6263_3588+6264insACATATATATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32786296	A A	ATGTTTTT others(14): Show ATGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0101 a0004c0007t0006g0101	1	154	0.0065	21	c.358 others(42): Show c.3588+12404_3588+12405insGTTTTTTTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811241	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0128 a0001c0001t0048g0128	1	154	0.0065	21	c.358 others(42): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar

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