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 per page.

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
OR51D1_chr11_4632477_4648060	4635113	A A	ATGGGCCC others(32): Show ATGGGCCCGGAGCGAGGAGAGTAGCACTCTTGTGCGGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(261): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0002c0002t0003 a0002c0002t0005 a0002c0002t0025 a0003c0003t0009 a0004c0004t0010 a0004c0004t0017	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0019 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0003g0004 a0001c0001t0004g0002 a0001c0001t0006g0001 a0001c0001t0006g0016 a0001c0001t0007g0005 a0001c0001t0007g0008 a0001c0001t0007g0025 a0001c0001t0008g0001 a0001c0001t0010g0006 a0001c0001t0011g0005 a0001c0001t0011g0008 a0001c0001t0012g0001 a0001c0001t0013g0001 a0001c0001t0014g0001 a0001c0001t0015g0004 a0001c0001t0016g0001 a0001c0001t0017g0010 a0001c0001t0017g0024 a0001c0001t0018g0012 a0001c0001t0019g0001 a0001c0001t0020g0009 a0001c0001t0021g0001 a0001c0001t0023g0007 a0001c0001t0024g0005 a0001c0001t0026g0002 a0001c0001t0027g0004 a0001c0001t0029g0004 a0001c0001t0030g0022 a0001c0001t0032g0002 a0001c0001t0033g0001 a0001c0001t0034g0002 a0001c0001t0036g0002 a0001c0001t0037g0006 a0001c0001t0041g0010 a0001c0001t0043g0015 a0001c0001t0045g0002 a0001c0001t0047g0002 a0002c0002t0003g0023 a0002c0002t0005g0003 a0002c0002t0025g0003 a0003c0003t0009g0003 a0004c0004t0010g0006 a0004c0004t0017g0006	264	446	0.5919	39	c.-26 others(50): Show c.-2655_-2654insTGGGCCCGGAGCGAGGAGAGTAGCACTCTTGTGC GGGAT	OR51D1	ENSG00000197428.3	transcript	ENST00000641817.1	protein_coding		2363		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636401	C C	CCCTCTCC others(32): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0169 a0001c0001t0041g0169	1	362	0.0028	39	c.-27 others(56): Show c.-27-1564_-27-1563insAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6X1_chr11_123748580_123759518	123759013	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	438	0.0023	39	c.-44 others(50): Show c.-4496_-4495insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	OR6X1	ENSG00000221931.3	transcript	ENST00000327930.3	protein_coding		4496		chr11	TogoVar
OR8B2_chr11_124377394_124389499	124378713	C C	CCCTGGAG others(32): Show CCCTGGAGTCTATGCACAATTCTACAGGGGAAATGTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0006 a0004c0004t0001g0006	1	444	0.0023	39	c.36 others(50): Show c.3688_*3689insCTGGACATTTCCCCTGTAGAATTGTGCATAGACT CCAGG	OR8B2	ENSG00000284680.3	transcript	ENST00000641451.2	protein_coding		3680		chr11	TogoVar
OR8U1_chr11_56370624_56381553	56381434	T T	TAAGGGGG others(32): Show TAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0000 a0003c0002t0000	a0003c0002t0000g0000 a0003c0002t0000g0000	1	364	0.0028	39	c.48 others(50): Show c.4881_*4882insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGTAA	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding		4882		chr11	TogoVar
OR9Q1_chr11_58018881_58186616	58178904	A A	ATATATAT others(32): Show ATATATATTATATATTTATATATTATATATATTATATATT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0248 a0001c0002t0001g0248	1	324	0.0031	39	c.-14 others(54): Show c.-14-498_-14-497insATTATATATTTATATATTATATATTTATAT ATTATATAT	OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
ORC3_chr6_87585135_87672451	87602954	A A	AATATATA others(32): Show AATATATATATATATATATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	378	0.0027	39	c.178 others(54): Show c.178-413_178-412insTATATATATAATATATATATATATATATAT ATATATATA	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ORC3_chr6_87585135_87672451	87644079	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	378	0.0027	39	c.138 others(58): Show c.1382+7624_1382+7625insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
OSBP2_chr22_30689874_30912813	30907493	A A	ATGGGGGG others(32): Show ATGGGGGGCTGGACCACCATGGCCACTGACCCAGCCCCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0107 a0001c0002t0017g0107	1	268	0.0037	39	c.11 others(50): Show c.1155_*1193dupTGGGGGGCTGGACCACCATGGCCACTGACCCAGC CCCTC	OSBP2	ENSG00000184792.16	transcript	ENST00000332585.11	protein_coding	14/14	1194	INFO_REALIGN_3_PRIME	chr22	TogoVar
OSBPL10_chr3_31655825_31986262	31761813	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	186	0.0054	39	c.730 others(58): Show c.730-13694_730-13693insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31965631	A A	ATTATATA others(32): Show ATTATATAAATTATATATTATATAATATATTATATAAATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02922.hp2 others(3): Show HG02451.hp2 HG02723.hp2 HG02922.hp2 HG02976.hp1 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0002g0020 a0001c0002t0001g0021	6	186	0.0323	39	c.281 others(58): Show c.281+15267_281+15268insAATTTATATAATATATTATATAATAT ATAATTTATATAA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL3_chr7_24791540_24985178	24917382	C C	CATATATA others(32): Show CATATATATATATTTGTAACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	326	0.0031	39	c.-14 others(60): Show c.-149-24800_-149-24762dupATATATATATATATATATATGTTA CAAATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917401	C C	CATATATA others(32): Show CATATATATATATATATATATATATATATTTGTAACATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	326	0.0031	39	c.-14 others(60): Show c.-149-24781_-149-24780insATATGTTACAAATATATATATATA TATATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917446	T T	TATATATA others(32): Show TATATATATATATATATATTTGTAACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	326	0.0031	39	c.-14 others(60): Show c.-149-24826_-149-24825insGTATATATATATATGTTACAAATA TATATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL6_chr2_178189512_178407893	178252193	G G	GTTACTAA others(32): Show GTTACTAACATTAATGCTACTAATGTTAATGTTAGTACTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02109.hp2 HG02280.hp1 others(8): Show HG01175.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0007t0027 a0001c0009t0040	a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0005g0036 others(8): Show a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0005g0036 a0001c0001t0022g0179 a0001c0001t0037g0177 a0001c0001t0039g0176 a0001c0001t0041g0173 a0001c0001t0045g0172 a0001c0007t0027g0182 a0001c0007t0027g0183 a0001c0009t0040g0178	11	200	0.0550	39	c.-35 others(60): Show c.-350-32719_-350-32718insCTACTAATGTTAATGTTAGTACTC TTACTAACATTAATG	OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
OSBPL6_chr2_178189512_178407893	178252193	G G	GTTACTAA others(32): Show GTTACTAACATTAATGTTACTAATGTTAATGTTAGTACTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(126): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02273.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18972.hp2 NA18977.hp1 NA18981.hp1 NA18990.hp2 NA18997.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19067.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0006 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0070 a0001c0001t0073 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0013 a0001c0002t0014 a0001c0002t0017 a0001c0002t0023 a0001c0002t0028 a0001c0002t0056 a0001c0002t0085 a0001c0004t0020 a0001c0004t0069 a0001c0004t0077 a0001c0004t0086 a0002c0003t0004 a0002c0003t0013 a0002c0003t0033 a0002c0003t0053 a0002c0003t0078 a0002c0003t0079 a0002c0003t0080 a0002c0006t0072 a0002c0006t0076 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(126): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0107 a0001c0001t0002g0023 a0001c0001t0002g0061 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0003g0013 a0001c0001t0003g0026 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0154 a0001c0001t0004g0047 a0001c0001t0004g0057 a0001c0001t0005g0039 a0001c0001t0005g0050 a0001c0001t0005g0065 a0001c0001t0006g0147 a0001c0001t0007g0015 a0001c0001t0007g0028 a0001c0001t0007g0064 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0046 a0001c0001t0008g0054 a0001c0001t0009g0024 a0001c0001t0009g0044 a0001c0001t0009g0048 a0001c0001t0009g0175 a0001c0001t0011g0009 a0001c0001t0011g0012 a0001c0001t0011g0091 a0001c0001t0011g0146 a0001c0001t0012g0125 a0001c0001t0012g0163 a0001c0001t0014g0016 a0001c0001t0014g0017 a0001c0001t0014g0029 a0001c0001t0015g0007 a0001c0001t0015g0156 a0001c0001t0015g0162 a0001c0001t0017g0062 a0001c0001t0018g0049 a0001c0001t0019g0143 a0001c0001t0020g0150 a0001c0001t0020g0184 a0001c0001t0021g0088 a0001c0001t0021g0119 a0001c0001t0022g0066 a0001c0001t0024g0071 a0001c0001t0025g0144 a0001c0001t0025g0148 a0001c0001t0026g0018 a0001c0001t0026g0027 a0001c0001t0029g0081 a0001c0001t0029g0113 a0001c0001t0030g0151 a0001c0001t0030g0152 a0001c0001t0031g0074 a0001c0001t0031g0075 a0001c0001t0032g0185 a0001c0001t0032g0186 a0001c0001t0034g0004 a0001c0001t0034g0005 a0001c0001t0036g0090 a0001c0001t0038g0063 a0001c0001t0043g0190 a0001c0001t0044g0189 a0001c0001t0046g0192 a0001c0001t0047g0058 a0001c0001t0048g0010 a0001c0001t0054g0141 a0001c0001t0055g0195 a0001c0001t0057g0194 a0001c0001t0058g0164 a0001c0001t0060g0030 a0001c0001t0061g0169 a0001c0001t0062g0149 a0001c0001t0063g0014 a0001c0001t0064g0118 a0001c0001t0068g0126 a0001c0001t0070g0153 a0001c0001t0073g0142 a0001c0001t0081g0145 a0001c0001t0082g0196 a0001c0001t0083g0076 a0001c0001t0084g0080 a0001c0001t0087g0174 a0001c0001t0088g0006 a0001c0002t0001g0055 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0004g0035 a0001c0002t0004g0166 a0001c0002t0009g0021 a0001c0002t0013g0042 a0001c0002t0014g0171 a0001c0002t0017g0053 a0001c0002t0017g0111 a0001c0002t0023g0073 a0001c0002t0028g0155 a0001c0002t0056g0034 a0001c0002t0085g0078 a0001c0004t0020g0079 a0001c0004t0069g0157 a0001c0004t0077g0158 a0001c0004t0086g0092 a0002c0003t0004g0159 a0002c0003t0004g0197 a0002c0003t0013g0198 a0002c0003t0033g0002 a0002c0003t0033g0003 a0002c0003t0053g0161 a0002c0003t0078g0020 a0002c0003t0079g0038 a0002c0003t0080g0193 a0002c0006t0072g0056 a0002c0006t0076g0188 a0003c0008t0001g0165	129	200	0.6450	39	c.-35 others(60): Show c.-350-32705_-350-32704insGTTAGTACTCTTACTAACATTAAT GTTACTAATGTTAAT	OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00621.hp2 others(8): Show HG00280.hp2 HG00597.hp2 HG00621.hp2 HG01074.hp1 HG01109.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp2 HG02559.hp2 HG03516.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0135 a0001c0001t0001g0196 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0135 a0001c0001t0001g0196 a0001c0001t0001g0238 a0001c0001t0001g0268 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0003t0001g0189	11	443	0.0248	39	c.52 others(50): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSCP1_chr1_36412906_36455451	36427299	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0259 a0004c0004t0001g0259	1	380	0.0026	39	c.517 others(56): Show c.517-3834_517-3833insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	OSCP1	ENSG00000116885.18	transcript	ENST00000235532.9	protein_coding	4/9			chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31564387	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	244	0.0041	39	c.332 others(56): Show c.332-5201_332-5200insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12			chr15	TogoVar
OVOL1_chr11_65782063_65802214	65793960	G G	GTCCGAAC others(32): Show GTCCGAACTAGTCTCAGGCTTCAACATCGAATACGCCGCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	444	0.0023	39	c.101 others(52): Show c.101-71_101-70insTCCGAACTAGTCTCAGGCTTCAACATCGAATA CGCCGCA	OVOL1	ENSG00000172818.10	transcript	ENST00000335987.8	protein_coding	1/3			chr11	TogoVar
OXNAD1_chr3_16260212_16311087	16304129	T T	TATTAATA others(32): Show TATTAATATTTATTTATATTTATTCTTTTATATATATTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0117 a0002c0002t0019g0117	1	384	0.0026	39	c.56 others(48): Show c.569_*570insTAATATTTATTTATATTTATTCTTTTATATATATTT CAT	OXNAD1	ENSG00000154814.14	transcript	ENST00000285083.10	protein_coding	9/9	570	INFO_REALIGN_3_PRIME	chr3	TogoVar
P2RX2_chr12_132613776_132627388	132618228	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	386	0.0026	39	c.-58 others(48): Show c.-589_-588insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		547		chr12	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG01515.hp2 others(14): Show HG00280.hp2 HG01099.hp1 HG01515.hp2 HG01928.hp1 HG02027.hp1 HG02135.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp2 HG02976.hp2 HG03486.hp2 NA18957.hp2 NA18984.hp1 NA18999.hp1 NA19009.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0002c0010t0001 a0001c0001t0001 a0001c0001t0003 a0002c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0003g0001 a0002c0010t0001g0001	17	386	0.0440	39	c.-58 others(48): Show c.-585_-584insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130843	A A	AGAAAGAA others(32): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(16): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG01346.hp2 HG02027.hp2 HG02155.hp1 HG02683.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03834.hp2 HG04184.hp2 NA18906.hp2 NA18974.hp2 NA18977.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0016 a0018 a0020 a0023	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0006c0005 a0016c0016 a0018c0026 a0020c0023 a0023c0028	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0006c0005t0002 a0016c0016t0002 a0018c0026t0016 a0020c0023t0037 a0023c0028t0001	a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0090 others(15): Show a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0090 a0001c0001t0001g0135 a0002c0002t0001g0130 a0002c0002t0001g0131 a0003c0004t0001g0127 a0003c0004t0001g0163 a0006c0005t0002g0044 a0006c0005t0002g0060 a0006c0005t0002g0070 a0016c0016t0002g0104 a0016c0016t0002g0108 a0016c0016t0002g0145 a0016c0016t0002g0168 a0018c0026t0016g0080 a0020c0023t0037g0035 a0023c0028t0001g0002	19	366	0.0519	39	c.-21 others(50): Show c.-2128_-2127insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2032		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG02109.hp2 HG02970.hp1	a0007 a0019 a0007 a0019	a0007c0008 a0019c0022 a0007c0008 a0019c0022	a0007c0008t0001 a0019c0022t0005 a0007c0008t0001 a0019c0022t0005	a0007c0008t0001g0307 a0019c0022t0005g0308 a0007c0008t0001g0307 a0019c0022t0005g0308	2	366	0.0055	39	c.125 others(56): Show c.125+2929_125+2930insAAAAAAAAAAAAATATATATATATATAT ATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY8_chrX_1457581_1542185	1468777	C C	CTCCCCTC others(32): Show CTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	114	0.0088	39	c.-24 others(56): Show c.-24-2196_-24-2195insAGGAGAGGGGAGAGGGGAGAGGGGAGAG GGGAGAGGGGA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1469074	C C	CCCTCTCC others(32): Show CCCTCTCCCCTCCCCTTCCTTCTCCTTCCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	114	0.0088	39	c.-24 others(56): Show c.-24-2493_-24-2492insAGAGGGGAGAGGGAAGGAGAAGGAAGGG GAGGGGAGAGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1507025	C C	CCCCATGG others(32): Show CCCCATGGCTAAAGTTAAGATGCAATTTAGTTGGAAGCGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(85): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02897.hp1 HG02897.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG04115.hp1 HG04199.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19006.hp1 NA19012.hp1 NA19056.hp1 NA19068.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0003c0013 a0004c0012 a0005c0006 a0006c0008 a0007c0009 a0008c0010 a0009c0011 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0003t0003 a0001c0003t0011 a0001c0004t0009 a0001c0004t0010 a0001c0004t0020 a0002c0002t0004 a0002c0002t0006 a0002c0002t0021 a0002c0005t0006 a0002c0005t0017 a0003c0013t0001 a0004c0012t0013 a0005c0006t0001 a0006c0008t0005 a0007c0009t0032 a0008c0010t0001 a0009c0011t0018 a0010c0007t0015	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0002g0014 a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0003g0069 a0001c0001t0006g0018 a0001c0001t0007g0009 a0001c0001t0007g0038 a0001c0001t0007g0074 a0001c0001t0008g0061 a0001c0001t0014g0052 a0001c0001t0016g0102 a0001c0001t0019g0034 a0001c0001t0022g0027 a0001c0001t0023g0059 a0001c0001t0025g0110 a0001c0001t0026g0044 a0001c0001t0028g0089 a0001c0001t0029g0054 a0001c0001t0030g0013 a0001c0001t0033g0113 a0001c0001t0034g0114 a0001c0003t0003g0068 a0001c0003t0011g0002 a0001c0004t0009g0032 a0001c0004t0010g0049 a0001c0004t0010g0111 a0001c0004t0020g0017 a0002c0002t0004g0008 a0002c0002t0004g0024 a0002c0002t0004g0035 a0002c0002t0006g0067 a0002c0002t0021g0021 a0002c0005t0006g0058 a0002c0005t0017g0062 a0003c0013t0001g0108 a0004c0012t0013g0093 a0005c0006t0001g0036 a0006c0008t0005g0051 a0007c0009t0032g0004 a0008c0010t0001g0096 a0009c0011t0018g0085 a0010c0007t0015g0015	88	114	0.7719	39	c.-25 others(58): Show c.-25+29895_-25+29896insTCGCTTCCAACTAAATTGCATCTTAA CTTTAGCCATGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1508946	A A	ATCTATCC others(32): Show ATCTATCCTGTATGTATCTATCCATCTATTCATCCATCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00544.hp2 others(28): Show HG00099.hp1 HG00408.hp1 HG00544.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01175.hp1 HG01346.hp2 HG01884.hp1 HG02056.hp1 HG02165.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp1 HG03195.hp1 HG03491.hp1 HG03516.hp1 HG04199.hp1 NA18906.hp2 NA18943.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA19043.hp2 NA19056.hp1 NA19068.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0006c0008 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0001t0031 a0001c0001t0033 a0001c0003t0001 a0001c0003t0003 a0001c0003t0012 a0001c0004t0020 a0002c0002t0004 a0002c0002t0006 a0002c0005t0006 a0002c0005t0017 a0006c0008t0005 a0010c0007t0015	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0023 others(28): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0002g0060 a0001c0001t0003g0069 a0001c0001t0007g0009 a0001c0001t0008g0061 a0001c0001t0016g0102 a0001c0001t0023g0059 a0001c0001t0025g0110 a0001c0001t0031g0012 a0001c0001t0033g0113 a0001c0003t0001g0048 a0001c0003t0003g0041 a0001c0003t0003g0068 a0001c0003t0012g0001 a0001c0004t0020g0017 a0002c0002t0004g0008 a0002c0002t0004g0035 a0002c0002t0006g0067 a0002c0005t0006g0058 a0002c0005t0017g0062 a0006c0008t0005g0051 a0010c0007t0015g0015	31	114	0.2719	39	c.-25 others(58): Show c.-25+27936_-25+27974dupCAGATGGATGAATAGATGGATAGATA CATACAGGATAGA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1514730	T T	TCCCTTCC others(32): Show TCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	114	0.0088	39	c.-25 others(58): Show c.-25+22190_-25+22191insGAAGGGAAGGGAAGGGAAGGGAAGGA AGGGAAGGAAGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PACRG_chr6_162722974_163320500	163312753	G G	GTTTTGTT others(32): Show GTTTTGTTTGTTTGTTTTTGAGACAGGGTCTTACTTTTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02572.hp1 others(2): Show HG01243.hp1 HG02559.hp2 HG02572.hp1 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0001t0001 a0001c0001t0002 a0001c0003t0003	a0001c0001t0001g0023 a0001c0001t0001g0103 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0002g0003 a0001c0003t0003g0061	5	130	0.0385	39	c.614 others(56): Show c.614-2040_614-2039insTTTTATTTTGTTTGTTTGTTTTTGAGAC AGGGTCTTACT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS2_chr14_105309748_105403147	105349849	T T	TAGCAGGA others(32): Show TAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG03195.hp2 others(1): Show HG02922.hp1 HG02965.hp2 HG03195.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0050 a0002c0002t0008 a0002c0002t0050	a0002c0002t0008g0004 a0002c0002t0008g0199 a0002c0002t0008g0200 others(1): Show a0002c0002t0008g0004 a0002c0002t0008g0199 a0002c0002t0008g0200 a0002c0002t0050g0004	4	210	0.0191	39	c.207 others(56): Show c.207+1269_207+1270insAGCAGGACCCCGAGAACTTCCAGGAGAG CGTGGCTAATA	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24			chr14	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168446	G G	GTTTGTTT others(32): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0004 a0001c0001t0062g0004	1	432	0.0023	39	c.75 others(48): Show c.750_*751insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	751	INFO_REALIGN_3_PRIME	chr11	TogoVar
PALLD_chr4_168492052_168933441	168709633	A A	AGGGAGGG others(32): Show AGGGAGGGAGGGAGGAAGGAAGGGGGAAAAGGAGTGGGGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	156	0.0064	39	c.162 others(56): Show c.1621+486_1621+487insGGGAGGGAGGGAGGAAGGAAGGGGGAAA AGGAGTGGGGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALLD_chr4_168492052_168933441	168709633	A A	AGGGAGGG others(32): Show AGGGAGGGAGGGAGGGAGGAAGGGGGAAAAGGAGTGGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0010 a0001c0001t0001 a0001c0001t0011 a0001c0002t0010	a0001c0001t0001g0001 a0001c0001t0011g0128 a0001c0002t0010g0092 a0001c0001t0001g0001 a0001c0001t0011g0128 a0001c0002t0010g0092	3	156	0.0192	39	c.162 others(56): Show c.1621+486_1621+487insGGGAGGGAGGGAGGGAGGAAGGGGGAAA AGGAGTGGGGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALLD_chr4_168492052_168933441	168709633	A A	AGGGAGGG others(32): Show AGGGAGGGAGGGAGGGAGGGAGGGGGAAAAGGAGTGGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0010 a0001c0002t0007g0010	1	156	0.0064	39	c.162 others(56): Show c.1621+486_1621+487insGGGAGGGAGGGAGGGAGGGAGGGGGAAA AGGAGTGGGGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21			chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(32): Show CATATATATATATATATATATATATTCTACATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0012 a0008c0010t0012	a0008c0010t0012g0043 a0008c0010t0012g0043	1	222	0.0045	39	c.583 others(58): Show c.583-59616_583-59615insTATATTCTACATATATATATATATAT ATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110169446	A A	AGGGGGGG others(32): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0047 a0002c0002t0019g0047	1	222	0.0045	39	c.95 others(48): Show c.951_*952insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGG	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	11/11	952	INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0341 a0001c0002t0004g0341	1	378	0.0027	39	c.118 others(56): Show c.118-3368_118-3367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAN3_chr13_28133545_28300335	28257721	A A	ATATATAT others(32): Show ATATATATTATATATAAATTATATATAATATATAATTAAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	252	0.0040	39	c.124 others(58): Show c.1248+1222_1248+1260dupTATATATTATATATAAATTATATATA ATATATAATTAAT	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	416	0.0024	39	c.635 others(54): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	416	0.0024	39	c.635 others(54): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATATT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK4_chr1_2503537_2531596	2531186	G G	GCTCCACC others(32): Show GCTCCACCTAGACCTCACTTTCCAGCCTTTATATCAATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	399	0.0025	39	c.-46 others(50): Show c.-4600_-4599insGAATTGATATAAAGGCTGGAAAGTGAGGTCTAGG TGGAG	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding		4591		chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	372	0.0027	39	c.381 others(52): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTCTTCTT others(32): Show CTCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	284	0.0035	39	c.-27 others(58): Show c.-277+1885_-277+1886insCTTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322760	A A	AGAGGGAG others(32): Show AGAGGGAGAAGAAGAAGAAGATGAGGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	284	0.0035	39	c.-27 others(60): Show c.-276-14579_-276-14578insGGGAGAAGAAGAAGAAGATGAGGA AGAAGAAGAAGAGGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322832	A A	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG01070.hp1 others(9): Show HG00639.hp1 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01928.hp2 HG03669.hp1 HG04204.hp1 NA18970.hp2 NA18973.hp1 NA18986.hp2 NA19000.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0074 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0013g0113 a0001c0001t0016g0109 a0001c0001t0017g0053	12	284	0.0423	39	c.-27 others(60): Show c.-276-14504_-276-14503insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAGGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0150 a0001c0001t0023g0150	1	362	0.0028	39	c.-30 others(50): Show c.-3007_-3006insATATATATATATATATATATATTTTTTTTTTTTT TTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0149 a0001c0001t0010g0149	1	362	0.0028	39	c.-30 others(50): Show c.-3007_-3006insATATATATATATATATATATATATTTTTTTTTTT TTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PARD3B_chr2_204540475_205625162	205248380	T T	TTGGTGGT others(32): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0010 a0003c0005t0001g0010	1	54	0.0185	39	c.218 others(58): Show c.2185+2594_2185+2595insTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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