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
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	364	0.0028	23	c.75+ others(38): Show c.75+4515_75+4516insATATATATATATATATATATTTT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18989.hp2 NA18971.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0202 a0001c0001t0001g0105 a0001c0001t0001g0202	2	364	0.0055	23	c.75+ others(38): Show c.75+4515_75+4516insATATATATATATATATATTTTTT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03579.hp1 NA18963.hp2 HG01070.hp1 HG03579.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0196 a0001c0001t0001g0244 a0001c0002t0002g0212 a0001c0001t0001g0196 a0001c0001t0001g0244 a0001c0002t0002g0212	3	364	0.0082	23	c.75+ others(38): Show c.75+4515_75+4516insATATATATATATATATTTTTTTT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02896.hp1 NA18998.hp2 others(1): Show HG02055.hp2 HG02896.hp1 NA18998.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0213 a0001c0001t0002g0157	4	364	0.0110	23	c.75+ others(38): Show c.75+4515_75+4516insATATATATATATATTTTTTTTTT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	364	0.0028	23	c.75+ others(38): Show c.75+4515_75+4516insATATATATATATTTTTTTTTTTT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496215	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19005.hp1 NA18944.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0232 a0001c0001t0001g0236	2	364	0.0055	23	c.75+ others(38): Show c.75+4515_75+4516insATATATATATATATATATATATA		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9						chr12	TogoVar
PROCR_chr20_35167072_35182362	35176156	G G	GTCTATCC others(16): Show GTCTATCCACAGTTCCTCTGACCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02602.hp1 HG02698.hp1 HG02602.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	2	392	0.0051	23	c.323 others(32): Show c.323-9_336dupTATCCACAGTTCCTCTGACCATC	p.Arg others(5): Show p.Arg113fs	PROCR	ENSG00000101000.6	transcript	ENST00000216968.5	protein_coding	3/4	420/1349	337/717	113/238		INFO_REALIGN_3_PRIME	chr20	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00639.hp2 others(15): Show HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG01981.hp2 HG02300.hp1 HG02602.hp2 HG02698.hp1 HG03490.hp1 HG04204.hp2 NA18943.hp2 NA18954.hp1 NA18991.hp1 NA18998.hp1	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0005c0005 a0013c0011 a0001c0001 a0005c0005 a0013c0011	a0001c0001t0001 a0001c0001t0013 a0005c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0005c0005t0001 a0013c0011t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0089 others(15): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0165 a0001c0001t0001g0193 a0001c0001t0001g0261 a0001c0001t0013g0213 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0001g0289 a0005c0005t0001g0291 a0005c0005t0001g0293 a0013c0011t0001g0295	18	348	0.0517	23	c.-81 others(40): Show c.-81-9061_-81-9039dupTTTTTTTTTTTTTTTTTTTTTTT		PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
PROZ_chr13_113153648_113177386	113154293	A A	AGGGCGCG others(16): Show AGGGCGCGGGGGGAGGGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	378	0.0027	23	c.-43 others(34): Show c.-4368_-4367insGGGCGCGGGGGGAGGGGGAGGCG		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding					4354		chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133749	T T	TCTCCACC others(16): Show TCTCCACCTCCCCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	227	0.0044	23	c.23 others(34): Show c.2317_*2318insCTCCACCTCCCCTCTCTCCCTCC		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2037		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCCACC others(16): Show TCTCCACCTCCCCTCTCTTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	227	0.0044	23	c.23 others(34): Show c.2346_*2347insCTCCACCTCCCCTCTCTTCCTCC		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2066		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133984	C C	CACCTCCC others(16): Show CACCTCCCCTCCCTCTCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02738.hp1 NA18612.hp1 others(1): Show HG02165.hp1 HG02738.hp1 NA18612.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012	4	227	0.0176	23	c.25 others(34): Show c.2552_*2553insACCTCCCCTCCCTCTCTCCACCT		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2272		chr19	TogoVar
PRPH2_chr6_42691598_42727597	42705597	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0209 a0002c0003t0003g0209	1	392	0.0026	23	c.582 others(38): Show c.582-987_582-986insATATATATATATATATATATATA		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00408.hp1 HG00597.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0319 a0002c0003t0003g0261 a0001c0002t0001g0319 a0002c0003t0003g0261	2	392	0.0051	23	c.582 others(38): Show c.582-989_582-988insATATATATATATATATATTTTTT		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18995.hp1 NA19066.hp1 HG01109.hp2 NA18995.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0167 a0001c0002t0001g0297 a0001c0002t0002g0231 a0001c0001t0001g0167 a0001c0002t0001g0297 a0001c0002t0002g0231	3	392	0.0077	23	c.582 others(38): Show c.582-989_582-988insATATATATATATATATATATTTT		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01256.hp1 HG03239.hp1 HG00597.hp1 HG01256.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0002t0001g0263 a0001c0001t0001g0009 a0001c0002t0001g0263	3	392	0.0077	23	c.582 others(38): Show c.582-989_582-988insATATATATATATATATATATATT		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0216 a0002c0003t0003g0216	1	392	0.0026	23	c.582 others(38): Show c.582-989_582-988insATATATATATATATATATATATA		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRRC1_chr5_127512640_127560085	127531617	C C	CTTCTTTT others(16): Show CTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0138 a0001c0001t0012g0138	1	340	0.0029	23	c.757 others(40): Show c.757+1223_757+1224insCTTTTTTTTTTTTTTTTTTTTTT		PRRC1	ENSG00000164244.21	transcript	ENST00000296666.13	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRRC2A_chr6_31615715_31642771	31618619	C C	CTTGGCCA others(16): Show CTTGGCCAGCTAAGACGAAAGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0070 a0011c0011t0001g0070	1	427	0.0023	23	c.-23 others(34): Show c.-2340_-2339insTTGGCCAGCTAAGACGAAAGTAT		PRRC2A	ENSG00000204469.13	transcript	ENST00000376033.3	protein_coding					2095		chr6	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	216	0.0046	23	c.-51 others(40): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTTTT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTTCTT others(16): Show CTTTTCTTTCTTTCTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0018 a0002c0006t0018	a0002c0006t0018g0166 a0002c0006t0018g0166	1	216	0.0046	23	c.-51 others(40): Show c.-51-9597_-51-9596insCTTTCTTTCTTTTCTTTCTTTTT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420494	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	216	0.0046	23	c.-51 others(40): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0095 a0005c0005t0001g0095	1	216	0.0046	23	c.112 others(40): Show c.1120+757_1120+758insCAAAAAAAAAAAAAAAAAAAAAA		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0101 a0001c0007t0001g0101	1	336	0.0030	23	c.665 others(42): Show c.6651+1236_6651+1237insTATATATATATATATATATATAT		PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34						chr1	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp1 HG01261.hp2 others(4): Show HG00280.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG02083.hp1 HG02132.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0061 a0001c0001t0001g0144 a0001c0001t0002g0106 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0144 a0001c0001t0002g0106 a0001c0001t0002g0158 a0001c0001t0004g0112 a0001c0001t0007g0113 a0001c0001t0011g0060	7	356	0.0197	23	c.241 others(40): Show c.241+4973_241+4995dupAAAAAAAAAAAAAAAAAAAAAAA		PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS16_chr6_27242701_27261620	27261453	A A	AAGAAGAG others(16): Show AAGAAGAGGTAACATGTGAGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	370	0.0027	23	c.61 others(34): Show c.6138_*6139insAGAAGAGGTAACATGTGAGAGCT		PRSS16	ENSG00000112812.16	transcript	ENST00000230582.8	protein_coding					4834		chr6	TogoVar
PRSS22_chr16_2847730_2863170	2857262	C C	CCCCAGCG others(16): Show CCCCAGCGCCTAGTGAGGAGGGGT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	412	0.0024	23	c.83- others(36): Show c.83-415_83-414insACCCCTCCTCACTAGGCGCTGGG		PRSS22	ENSG00000005001.10	transcript	ENST00000161006.8	protein_coding	1/5						chr16	TogoVar
PRSS55_chr8_10520532_10543819	10543476	C C	CTTTTCTT others(16): Show CTTTTCTTTTCTTTTCTTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0006 a0004c0006t0001g0006	1	480	0.0021	23	c.46 others(34): Show c.4683_*4684insTTTTCTTTTCTTTTCTTTTCTTT		PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding					4658		chr8	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02257.hp1 HG02273.hp2 others(2): Show HG01168.hp1 HG02257.hp1 HG02273.hp2 NA18944.hp2 NA19066.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0081 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0081 a0007c0013t0004	a0001c0001t0001g0138 a0001c0001t0001g0181 a0001c0001t0002g0251 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0181 a0001c0001t0002g0251 a0001c0001t0081g0159 a0007c0013t0004g0239	5	284	0.0176	23	c.204 others(42): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTTTT		PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19						chr15	TogoVar
PRTN3_chr19_835999_853175	842413	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03453.hp2 NA18906.hp1 HG01106.hp1 HG03453.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080	3	415	0.0072	23	c.62- others(38): Show c.62-1046_62-1024dupTTTTTTTTTTTTTTTTTTTTTTT		PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	852730	C C	CGATCCCG others(16): Show CGATCCCGTGGGTTCCCGGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03453.hp1 HG02486.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0319 a0002c0002t0001g0044 a0001c0001t0001g0319 a0002c0002t0001g0044	2	415	0.0048	23	c.47 others(34): Show c.4761_*4762insGATCCCGTGGGTTCCCGGTGGGG		PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding					4556		chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76774451	T T	TTTTTTTA others(16): Show TTTTTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0164 a0003c0003t0003g0164	1	240	0.0042	23	c.756 others(42): Show c.756+49180_756+49181insTAAATAAATAAATAAATAAAAAA		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18						chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0003 a0003c0003t0011g0003	1	240	0.0042	23	c.37- others(40): Show c.37-25696_37-25695insAAAAAAAAATATATATATATATA		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18						chr9	TogoVar
PRY_chrY_22485397_22519637	22490101	A A	ATGGAGTG others(16): Show ATGGAGTGTTGCAACTGTTGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01256.hp2 HG01258.hp1 others(1): Show HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 others(1): Show a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020	4	119	0.0336	23	c.-52 others(32): Show c.-523_-522insTGGAGTGTTGCAACTGTTGGATG		PRY	ENSG00000169789.10	transcript	ENST00000303728.5	protein_coding					295		chrY	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	416	0.0024	23	c.870 others(40): Show c.870-1095_870-1094insATATATATATATATATATATTTT		PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	416	0.0024	23	c.870 others(40): Show c.870-1095_870-1094insATATATATATATATATTTTTTTT		PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18594195	C C	CATATTAT others(16): Show CATATTATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0017 a0002c0029t0017	a0002c0029t0017g0176 a0002c0029t0017g0176	1	228	0.0044	23	c.248 others(42): Show c.2481+6168_2481+6169insATATAATATATATTATATAATAT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18752546	T T	TAATATAT others(16): Show TAATATATATAATTATATATATTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0077 a0003c0004t0077	a0003c0004t0077g0096 a0003c0004t0077g0096	1	228	0.0044	23	c.217 others(44): Show c.2172+12902_2172+12903insTAATATATATAATTATATATATT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15						chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151895	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0302 a0001c0001t0015g0302	1	378	0.0027	23	c.87+ others(38): Show c.87+3789_87+3790insATATATATATATATATATATATA		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11						chr14	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00738.hp1 others(23): Show HG00280.hp2 HG00544.hp1 HG00738.hp1 HG00738.hp2 HG01175.hp2 HG01515.hp2 HG01517.hp1 HG02040.hp2 HG02132.hp2 HG02818.hp1 HG02965.hp2 HG03017.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 NA18612.hp2 NA18942.hp1 NA18953.hp1 NA18978.hp2 NA18983.hp1 NA19002.hp1 NA19057.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0022 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0195	26	430	0.0605	23	c.430 others(40): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAAAA		PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01175.hp1 NA18747.hp2 HG00597.hp1 HG01175.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0188 a0001c0001t0001g0240 a0001c0001t0001g0241	3	416	0.0072	23	c.430 others(40): Show c.430+2096_430+2097insATATATATATATATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	416	0.0024	23	c.430 others(40): Show c.430+2096_430+2097insAAATATATATATATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01256.hp1 HG00423.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0223 a0001c0001t0001g0228	2	416	0.0048	23	c.430 others(40): Show c.430+2096_430+2097insAAAAATATATATATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	416	0.0024	23	c.430 others(40): Show c.430+2096_430+2097insAAAAAAATATATATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19003.hp1 NA19012.hp2 others(1): Show HG02155.hp2 NA19003.hp1 NA19012.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0077 a0001c0002t0002g0003 a0001c0002t0002g0077	4	416	0.0096	23	c.430 others(40): Show c.430+2096_430+2097insAAAAAAAAATATATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0110	1	416	0.0024	23	c.430 others(40): Show c.430+2096_430+2097insAAAAAAAAAAATATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0114 a0001c0005t0002g0114	1	416	0.0024	23	c.430 others(40): Show c.430+2096_430+2097insAAAAAAAAAAAAATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19074.hp2 HG00438.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0135 a0001c0002t0002g0091 a0001c0002t0002g0135	2	416	0.0048	23	c.430 others(40): Show c.430+2096_430+2097insAAAAAAAAAAAAAAATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933308	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03041.hp2 NA18954.hp1 others(2): Show HG01993.hp1 HG03041.hp2 NA18954.hp1 NA18954.hp2 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0226 a0001c0001t0001g0267 a0001c0001t0001g0284 others(2): Show a0001c0001t0001g0226 a0001c0001t0001g0267 a0001c0001t0001g0284 a0002c0003t0003g0326 a0002c0003t0003g0334	5	416	0.0120	23	c.430 others(40): Show c.430+2095_430+2096insTATATATATATATATATATATAT		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG9_chr19_43248282_43274530	43258534	T T	TGACCCTC others(16): Show TGACCCTCTGAGCCAAGACACACC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG03471.hp2 others(3): Show HG02572.hp2 HG02630.hp1 HG03471.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2	a0006 a0012 a0013 a0006 a0012 a0013	a0006c0007 a0012c0027 a0013c0030 a0006c0007 a0012c0027 a0013c0030	a0006c0007t0001 a0012c0027t0001 a0013c0030t0001 a0006c0007t0001 a0012c0027t0001 a0013c0030t0001	a0006c0007t0001g0031 a0006c0007t0001g0099 a0006c0007t0001g0100 others(2): Show a0006c0007t0001g0031 a0006c0007t0001g0099 a0006c0007t0001g0100 a0012c0027t0001g0098 a0013c0030t0001g0097	6	212	0.0283	23	c.989 others(37): Show c.989-101_989-79dupGGTGTGTCTTGGCTCAGAGGGTC		PSG9	ENSG00000183668.18	transcript	ENST00000270077.8	protein_coding	4/5						chr19	TogoVar

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