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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

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
PPP2R1A_chr19_52185052_52234518	52186588	GTGTATGT others(23): Show GTGTATGTATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0022 a0001c0002t0005g0022	1	384	0.0026	-30	c.-35 others(41): Show c.-3508_-3479delTGTATGTATATATATATATATATATATATA	PPP2R1A	ENSG00000105568.19	transcript	ENST00000322088.11	protein_coding		3463		chr19	TogoVar
PPP2R2B_chr5_146575742_146883757	146740573	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0163 a0001c0001t0014g0163	1	170	0.0059	-30	c.71- others(47): Show c.71-39461_71-39432delTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9			chr5	TogoVar
PPP2R2B_chr5_146575742_146883757	146772383	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02027.hp2 HG02559.hp1 others(11): Show HG01192.hp2 HG02027.hp2 HG02559.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 others(10): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0050 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0063 a0001c0001t0064 a0001c0001t0074 a0001c0001t0098 a0001c0001t0101 a0001c0001t0103	a0001c0001t0013g0098 a0001c0001t0014g0167 a0001c0001t0014g0169 others(11): Show a0001c0001t0013g0098 a0001c0001t0014g0167 a0001c0001t0014g0169 a0001c0001t0025g0006 a0001c0001t0050g0042 a0001c0001t0053g0054 a0001c0001t0055g0053 a0001c0001t0056g0051 a0001c0001t0063g0088 a0001c0001t0064g0085 a0001c0001t0074g0092 a0001c0001t0098g0155 a0001c0001t0101g0153 a0001c0001t0103g0156	14	170	0.0824	-30	c.71- others(47): Show c.71-71271_71-71242delATATATATATATATATATATATATATAT AT	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9			chr5	TogoVar
PPP2R2C_chr4_6315581_6477614	6337108	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0046 a0001c0002t0021g0201 a0001c0002t0021g0046 a0001c0002t0021g0201	2	298	0.0067	-30	c.791 others(47): Show c.791-3407_791-3378delTATATATATATATATATATATATATACA CA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131917378	CACAGTGT others(23): Show CACAGTGTAGGGACCTCAGTCGGGTGGAATG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(84): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02683.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(40): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0005t0018 a0003c0004t0113	a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 others(82): Show a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0136 a0001c0001t0003g0164 a0001c0001t0006g0047 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0011g0073 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0001t0011g0080 a0001c0001t0011g0192 a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 a0001c0001t0017g0001 a0001c0001t0017g0013 a0001c0001t0017g0133 a0001c0001t0017g0257 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0020g0014 a0001c0001t0020g0111 a0001c0001t0020g0189 a0001c0001t0027g0120 a0001c0001t0027g0129 a0001c0001t0033g0090 a0001c0001t0033g0134 a0001c0001t0035g0014 a0001c0001t0035g0112 a0001c0001t0036g0048 a0001c0001t0037g0099 a0001c0001t0038g0121 a0001c0001t0039g0097 a0001c0001t0065g0092 a0001c0001t0066g0172 a0001c0001t0067g0167 a0001c0001t0084g0098 a0001c0001t0085g0105 a0001c0001t0086g0122 a0001c0001t0089g0086 a0001c0001t0090g0106 a0001c0001t0091g0166 a0001c0001t0092g0053 a0001c0001t0093g0165 a0001c0001t0095g0114 a0001c0001t0096g0056 a0001c0001t0097g0001 a0001c0001t0098g0096 a0001c0001t0100g0101 a0001c0001t0101g0126 a0001c0001t0103g0108 a0001c0001t0104g0001 a0001c0001t0105g0013 a0001c0001t0106g0087 a0001c0001t0107g0079 a0001c0001t0109g0169 a0001c0001t0110g0100 a0001c0001t0111g0001 a0001c0001t0112g0124 a0001c0005t0018g0255 a0003c0004t0113g0103	87	394	0.2208	-30	c.100 others(49): Show c.100+16056_100+16085delAGGGACCTCAGTCGGGTGGAATGACA GTGT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131917650	CACAGTGT others(23): Show CACAGTGTAGGGACCTCATGTGGGTGGAATG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0236 a0002c0002t0062g0236	1	394	0.0025	-30	c.100 others(49): Show c.100+16338_100+16367delTGTGGGTGGAATGACAGTGTAGGGAC CTCA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131919088	TTGTAGGG others(23): Show TTGTAGGGACGTCAGGCGGCTGGAATGACAG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp1 HG04184.hp1 HG02683.hp2 HG03688.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0106 a0001c0001t0003 a0001c0001t0106	a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0106g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0106g0087	3	394	0.0076	-30	c.101 others(49): Show c.101-15360_101-15331delGTCAGGCGGCTGGAATGACAGTGTAG GGAC	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131919214	CACAGTGT others(23): Show CACAGTGTAGGGACCTCAGGCGGGTGGAATG	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	394	0.0025	-30	c.101 others(49): Show c.101-15226_101-15197delGGCGGGTGGAATGACAGTGTAGGGAC CTCA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131919245	ACAGTGTA others(23): Show ACAGTGTAGGGACCTCACGTGGGTGGAATGG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	394	0.0025	-30	c.101 others(49): Show c.101-15210_101-15181delGTGTAGGGACCTCACGTGGGTGGAAT GGCA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131919347	ACAGTGTA others(23): Show ACAGTGTAGGGACCTCACGTGGGTGGAATGG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0097 a0001c0001t0039g0097	1	394	0.0025	-30	c.101 others(49): Show c.101-15108_101-15079delGTGTAGGGACCTCACGTGGGTGGAAT GGCA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131919554	CACAATGT others(23): Show CACAATGTAGGGATCTCACGTGGGTGGAATG	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	394	0.0025	-30	c.101 others(49): Show c.101-14900_101-14871delATGTAGGGATCTCACGTGGGTGGAAT GACA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131952232	TAGCAGTG others(23): Show TAGCAGTGACTTGGGGGGTCCCTGTCTTAGC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	394	0.0025	-30	c.108 others(49): Show c.1083-3449_1083-3420delCAGTGACTTGGGGGGTCCCTGTCTTA GCAG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R5C_chr14_101756709_101932977	101922480	CTCTGTGT others(23): Show CTCTGTGTCAAAAATAAATATAAAATAATTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00642.hp1 others(45): Show HG00408.hp1 HG00558.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01884.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18963.hp2 NA18969.hp2 NA18995.hp2 NA19005.hp2 NA19009.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19081.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0003t0005 a0001c0003t0013 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0016 a0003c0004t0004	a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0082 others(45): Show a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0002g0094 a0001c0001t0005g0069 a0001c0001t0005g0083 a0001c0001t0006g0075 a0001c0001t0006g0099 a0001c0001t0009g0122 a0001c0003t0005g0018 a0001c0003t0005g0020 a0001c0003t0013g0019 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0025 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0063 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0115 a0002c0002t0001g0121 a0002c0002t0003g0129 a0002c0002t0003g0132 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0004g0017 a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0073 a0002c0002t0004g0108 a0002c0002t0004g0119 a0002c0002t0008g0011 a0002c0002t0016g0103 a0003c0004t0004g0120	48	138	0.3478	-30	c.160 others(49): Show c.1609-2659_1609-2630delCTGTGTCAAAAATAAATATAAAATAA TTTT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101033275	GACACACA others(23): Show GACACACACACACACACAAACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	192	0.0052	-30	c.124 others(47): Show c.1242-941_1242-912delGTGTGTGTGTGTTTGTGTGTGTGTGTGT GT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	11/13			chr4	TogoVar
PPP4R2_chr3_72991811_73074198	73004923	TTGTGTGT others(23): Show TTGTGTGTTTTGAGTCGGAGTCGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG01884.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0033 a0001c0002t0013 a0001c0002t0033	a0001c0002t0013g0094 a0001c0002t0033g0093 a0001c0002t0013g0094 a0001c0002t0033g0093	2	360	0.0056	-30	c.116 others(47): Show c.116+6773_116+6802delTTTGAGTCGGAGTCGTGTGTGTGTGTGT GT	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP5C_chr19_46342087_46395975	46389362	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02040.hp1 HG02165.hp1 HG01978.hp1 HG02040.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0109 a0001c0002t0002g0023 a0001c0002t0002g0078 a0001c0001t0001g0109 a0001c0002t0002g0023 a0001c0002t0002g0078	3	394	0.0076	-30	c.135 others(47): Show c.1356-619_1356-590delCACACACACACACACACACACACACACA CA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50344238	TCCCCCAG others(23): Show TCCCCCAGTCAGTGCCCCCTCCAGTCAGTTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0009 a0002c0004t0012g0009	1	340	0.0029	-30	c.-14 others(47): Show c.-148+707_-148+736delTCCAGTCAGTTCCCCCCAGTCAGTGCCC CC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50344839	CCCCCCCA others(23): Show CCCCCCCAGTCAGTGCCCCCTCTAGTCAGTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	340	0.0029	-30	c.-14 others(49): Show c.-148+1296_-148+1325delAGTCAGTGCCCCCTCTAGTCAGTTCC CCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50344854	CCCCCTCT others(23): Show CCCCCTCTAGTCAGTTCCCCCCCAGTCAGTG	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0073 a0001c0002t0039g0073	1	340	0.0029	-30	c.-14 others(49): Show c.-148+1309_-148+1338delTCTAGTCAGTTCCCCCCCAGTCAGTG CCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50344870	CCCCCCCA others(23): Show CCCCCCCAGTCAGTGCCCCCTCTAGTCAGTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19000.hp1 HG02257.hp1 NA19000.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0203 a0002c0004t0005g0204 a0002c0004t0005g0203 a0002c0004t0005g0204	2	340	0.0059	-30	c.-14 others(49): Show c.-148+1327_-148+1356delAGTCAGTGCCCCCTCTAGTCAGTTCC CCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50344916	CCCCCTCT others(23): Show CCCCCTCTAGTCAGTTCCCCCCCAGTCAGTG	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0090 a0001c0005t0002g0090	1	340	0.0029	-30	c.-14 others(49): Show c.-148+1371_-148+1400delTCTAGTCAGTTCCCCCCCAGTCAGTG CCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50344964	CCCCCCAG others(23): Show CCCCCCAGTCAGTGCCTCCTCCAGTCAGTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19000.hp2 HG02145.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0232 a0001c0002t0003g0038 a0001c0001t0001g0232 a0001c0002t0003g0038	2	340	0.0059	-30	c.-14 others(49): Show c.-148+1490_-148+1519delTCCTCCAGTCAGTTTCCCCCAGTCAG TGCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50345266	TCCTCCAG others(23): Show TCCTCCAGTCAGTTTCCCCCAGTCAGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp1 others(102): Show HG00099.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19074.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0010 a0011 a0015 a0018 a0020	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0014 a0001c0017 a0001c0018 a0001c0021 a0001c0031 a0002c0004 a0002c0007 a0006c0010 a0010c0033 a0011c0032 a0015c0023 a0018c0026 a0020c0019	a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 others(27): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0015 a0001c0002t0016 a0001c0003t0001 a0001c0003t0008 a0001c0008t0004 a0001c0014t0001 a0001c0017t0011 a0001c0018t0004 a0001c0021t0001 a0001c0031t0003 a0002c0004t0012 a0002c0007t0012 a0006c0010t0001 a0010c0033t0015 a0011c0032t0011 a0015c0023t0001 a0018c0026t0011 a0020c0019t0004	a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 others(102): Show a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0295 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0339 a0001c0001t0012g0254 a0001c0001t0012g0266 a0001c0001t0019g0306 a0001c0001t0019g0307 a0001c0001t0019g0308 a0001c0001t0024g0245 a0001c0001t0025g0239 a0001c0001t0026g0289 a0001c0001t0028g0317 a0001c0001t0029g0238 a0001c0001t0031g0309 a0001c0002t0003g0285 a0001c0002t0004g0282 a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0328 a0001c0002t0004g0330 a0001c0002t0004g0331 a0001c0002t0004g0332 a0001c0002t0004g0333 a0001c0002t0011g0277 a0001c0002t0011g0278 a0001c0002t0011g0279 a0001c0002t0011g0294 a0001c0002t0011g0298 a0001c0002t0015g0296 a0001c0002t0015g0321 a0001c0002t0015g0337 a0001c0002t0016g0276 a0001c0002t0016g0281 a0001c0002t0016g0284 a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0008g0249 a0001c0003t0008g0293 a0001c0003t0008g0300 a0001c0003t0008g0305 a0001c0008t0004g0288 a0001c0008t0004g0290 a0001c0008t0004g0291 a0001c0008t0004g0297 a0001c0008t0004g0299 a0001c0008t0004g0301 a0001c0008t0004g0302 a0001c0008t0004g0304 a0001c0008t0004g0338 a0001c0014t0001g0314 a0001c0014t0001g0320 a0001c0017t0011g0280 a0001c0017t0011g0286 a0001c0018t0004g0327 a0001c0021t0001g0273 a0001c0031t0003g0329 a0002c0004t0012g0303 a0002c0007t0012g0227 a0006c0010t0001g0240 a0006c0010t0001g0251 a0006c0010t0001g0260 a0006c0010t0001g0269 a0010c0033t0015g0336 a0011c0032t0011g0287 a0015c0023t0001g0340 a0018c0026t0011g0283 a0020c0019t0004g0292	105	340	0.3088	-30	c.-14 others(49): Show c.-148+1730_-148+1759delTCCCCCAGTCAGTGCCCCCTCCAGTC AGTT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50345433	TCCCTCCA others(23): Show TCCCTCCAGTCAGTGCCCCCCAGTCAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	340	0.0029	-30	c.-14 others(49): Show c.-148+1903_-148+1932delCAGTCAGTGCCCCCTCCAGTCAGTGC CCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50345650	CCCAGTCA others(23): Show CCCAGTCAGTTTCCCCCCAGTCAGTTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0229 a0002c0004t0012g0230 a0002c0004t0012g0229 a0002c0004t0012g0230	2	340	0.0059	-30	c.-14 others(49): Show c.-148+2110_-148+2139delTTCCCCCCAGTCAGTTTCCCTCCAGT CAGT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50345995	CAGTCAGT others(23): Show CAGTCAGTTCCCCCCAGTCAGTGCATCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0048 a0001c0001t0014g0048	1	340	0.0029	-30	c.-14 others(49): Show c.-148+2468_-148+2497delCATCCTCTAGTCAGTTCCCCCCAGTC AGTG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM15_chr21_41793225_41884344	41806382	CCACCACC others(23): Show CCACCACCACCATCACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02922.hp1 others(4): Show HG02055.hp2 HG02572.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0010 a0001c0006t0010 a0001c0011t0010 a0001c0001t0010 a0001c0006t0010 a0001c0011t0010	a0001c0001t0010g0271 a0001c0006t0010g0061 a0001c0006t0010g0392 others(4): Show a0001c0001t0010g0271 a0001c0006t0010g0061 a0001c0006t0010g0392 a0001c0011t0010g0023 a0001c0011t0010g0116 a0001c0011t0010g0300 a0001c0011t0010g0389	7	406	0.0172	-30	c.265 others(49): Show c.2653-1798_2653-1769delATGGTGGTGGTGGTGGTGATGGTGGT GGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41835913	ACTCTCCT others(23): Show ACTCTCCTCCCTCCCCCACAGGGTTTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02818.hp1 others(1): Show HG02622.hp1 HG02647.hp2 HG02818.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0037 a0001c0005 a0001c0037	a0001c0005t0009 a0001c0037t0003 a0001c0005t0009 a0001c0037t0003	a0001c0005t0009g0117 a0001c0005t0009g0118 a0001c0005t0009g0318 others(1): Show a0001c0005t0009g0117 a0001c0005t0009g0118 a0001c0005t0009g0318 a0001c0037t0003g0007	4	406	0.0099	-30	c.127 others(47): Show c.1278+170_1278+199delCGGCCAAACCCTGTGGGGGAGGGAGGAG AG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	10/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41835943	GCTCTCCT others(23): Show GCTCTCCTCCCTCCCCCACAGCCCCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG02056.hp1 others(13): Show HG00738.hp1 HG01192.hp1 HG02056.hp1 HG02135.hp2 HG02886.hp1 HG04115.hp1 NA18522.hp2 NA18952.hp1 NA18960.hp1 NA18983.hp2 NA18985.hp2 NA19000.hp1 NA19030.hp1 NA19067.hp2 NA19082.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0017 a0001c0001 a0001c0005 a0001c0017	a0001c0001t0007 a0001c0005t0006 a0001c0005t0007 others(1): Show a0001c0001t0007 a0001c0005t0006 a0001c0005t0007 a0001c0017t0001	a0001c0001t0007g0122 a0001c0005t0006g0135 a0001c0005t0007g0010 others(13): Show a0001c0001t0007g0122 a0001c0005t0006g0135 a0001c0005t0007g0010 a0001c0005t0007g0127 a0001c0005t0007g0172 a0001c0005t0007g0173 a0001c0005t0007g0174 a0001c0005t0007g0269 a0001c0005t0007g0283 a0001c0005t0007g0284 a0001c0005t0007g0285 a0001c0005t0007g0393 a0001c0005t0007g0394 a0001c0005t0007g0395 a0001c0005t0007g0396 a0001c0017t0001g0278	16	406	0.0394	-30	c.127 others(47): Show c.1278+140_1278+169delTGGGCGGGGGCTGTGGGGGAGGGAGGAG AG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	10/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41844779	TCCCCCCT others(23): Show TCCCCCCTCACAGGGACACACACAGTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0325 a0001c0005t0004g0325	1	406	0.0025	-30	c.640 others(47): Show c.640+2281_640+2310delGAGGGACTGTGTGTGTCCCTGTGAGGGG GG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3105927	ATCCTTAG others(23): Show ATCCTTAGTGTGCCCCGGGGTCCACCTGTGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(60): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00741.hp2 HG01123.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG02056.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18943.hp1 NA18966.hp1 NA18990.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19085.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0022 a0002c0003 a0002c0007 a0002c0030 a0003c0005 a0004c0010 a0005c0018 a0008c0027 a0009c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(45): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028 a0001c0001t0035 a0001c0001t0043 a0001c0001t0056 a0001c0001t0076 a0001c0001t0083 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0018 a0001c0002t0032 a0001c0002t0061 a0001c0002t0062 a0001c0002t0084 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0055 a0001c0004t0081 a0001c0006t0011 a0001c0006t0039 a0001c0008t0001 a0001c0008t0040 a0001c0008t0085 a0001c0009t0074 a0001c0022t0057 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0013 a0002c0003t0059 a0002c0007t0001 a0002c0007t0002 a0002c0007t0024 a0002c0030t0047 a0003c0005t0001 a0004c0010t0026 a0005c0018t0012 a0008c0027t0078 a0009c0028t0015	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0201 others(60): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0003g0049 a0001c0001t0005g0184 a0001c0001t0007g0054 a0001c0001t0011g0022 a0001c0001t0012g0129 a0001c0001t0014g0069 a0001c0001t0016g0035 a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0001t0035g0194 a0001c0001t0043g0060 a0001c0001t0056g0204 a0001c0001t0076g0170 a0001c0001t0083g0027 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0095 a0001c0002t0001g0114 a0001c0002t0001g0121 a0001c0002t0001g0208 a0001c0002t0003g0120 a0001c0002t0003g0144 a0001c0002t0003g0147 a0001c0002t0005g0186 a0001c0002t0018g0085 a0001c0002t0032g0192 a0001c0002t0061g0093 a0001c0002t0062g0191 a0001c0002t0084g0138 a0001c0004t0004g0051 a0001c0004t0007g0071 a0001c0004t0010g0032 a0001c0004t0010g0130 a0001c0004t0055g0004 a0001c0004t0081g0031 a0001c0006t0011g0065 a0001c0006t0039g0140 a0001c0008t0001g0005 a0001c0008t0040g0021 a0001c0008t0085g0003 a0001c0009t0074g0117 a0001c0022t0057g0139 a0002c0003t0001g0018 a0002c0003t0004g0048 a0002c0003t0004g0068 a0002c0003t0004g0127 a0002c0003t0004g0128 a0002c0003t0007g0103 a0002c0003t0013g0137 a0002c0003t0059g0037 a0002c0007t0001g0001 a0002c0007t0002g0045 a0002c0007t0024g0070 a0002c0030t0047g0206 a0003c0005t0001g0172 a0004c0010t0026g0122 a0005c0018t0012g0030 a0008c0027t0078g0082 a0009c0028t0015g0209	63	210	0.3000	-30	c.37+ others(47): Show c.37+36640_37+36669delGTGCCCCGGGGTCCACCTGTGCTCCTTA GT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3255852	CGACACCC others(23): Show CGACACCCGAAGCCAACCCCGTGGCCGCACT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG03225.hp1 HG01243.hp1 HG02647.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0001t0056 a0001c0004t0010 a0001c0001t0012 a0001c0001t0056 a0001c0004t0010	a0001c0001t0012g0041 a0001c0001t0056g0204 a0001c0004t0010g0032 a0001c0001t0012g0041 a0001c0001t0056g0204 a0001c0004t0010g0032	3	210	0.0143	-30	c.438 others(49): Show c.438+11745_438+11774delTGACACCCGAAGCCAACCCCGTGGCC GCAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3305576	ATGGAAGT others(23): Show ATGGAAGTTGATCAGTTGATAAAATCCTTCG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0061 a0001c0001t0022g0061	1	210	0.0048	-30	c.438 others(49): Show c.438+61444_438+61473delAGTTGATCAGTTGATAAAATCCTTCG TGGA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3325937	CCCTCCTT others(23): Show CCCTCCTTGGCCATCCTCGACGATCCTTGGT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0049 a0001c0021t0049	a0001c0021t0049g0023 a0001c0021t0049g0023	1	210	0.0048	-30	c.439 others(49): Show c.439-59194_439-59165delGATCCTTGGTCCTCCTTGGCCATCCT CGAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3326091	CTTGGCCA others(23): Show CTTGGCCATCCTCGACCATCCTTGGCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03710.hp2 HG01175.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0053 a0001c0002t0008 a0001c0001t0053 a0001c0002t0008	a0001c0001t0053g0154 a0001c0002t0008g0083 a0001c0001t0053g0154 a0001c0002t0008g0083	2	210	0.0095	-30	c.439 others(49): Show c.439-59001_439-58972delGTTGGCCATCCTCGACCATCCTTGGC CCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM5_chr4_120686915_120927726	120699161	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	298	0.0034	-30	c.172 others(49): Show c.1729-3916_1729-3887delATATATATATATATATATATATATAT ATAT	PRDM5	ENSG00000138738.11	transcript	ENST00000264808.8	protein_coding	15/15			chr4	TogoVar
PRDM6_chr5_123084241_123199266	123089112	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA19030.hp1 HG00621.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0014 a0003c0003t0001 a0001c0001t0014 a0003c0003t0001	a0001c0001t0014g0113 a0003c0003t0001g0125 a0001c0001t0014g0113 a0003c0003t0001g0125	2	312	0.0064	-30	c.-42 others(39): Show c.-422_-393delCTCTCTCTCTCTCTCACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		128		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089114	TCTCTCTC others(23): Show TCTCTCTCTCTCTCACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01175.hp2 HG01952.hp1 others(9): Show HG00558.hp1 HG01175.hp2 HG01952.hp1 HG01981.hp2 HG02273.hp1 HG02717.hp2 HG03834.hp2 NA18747.hp1 NA18968.hp1 NA18969.hp2 NA19010.hp2 NA19085.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0016 a0001c0001 a0003c0003 a0009c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0057 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0057 a0003c0003t0001 a0009c0016t0074	a0001c0001t0001g0101 a0001c0001t0001g0140 a0001c0001t0001g0146 others(8): Show a0001c0001t0001g0101 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0177 a0001c0001t0001g0216 a0001c0001t0005g0151 a0001c0001t0057g0003 a0003c0003t0001g0005 a0003c0003t0001g0116 a0003c0003t0001g0122 a0009c0016t0074g0214	12	312	0.0385	-30	c.-42 others(39): Show c.-420_-391delCTCTCTCTCTCTCACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		126		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089116	TCTCTCTC others(23): Show TCTCTCTCTCTCACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01123.hp2 HG01361.hp1 others(8): Show HG00621.hp1 HG01123.hp2 HG01361.hp1 HG01433.hp1 HG01934.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19066.hp2 NA19070.hp2 NA19077.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0014	a0001c0001 a0003c0003 a0011c0014 others(1): Show a0001c0001 a0003c0003 a0011c0014 a0014c0018	a0001c0001t0001 a0003c0003t0001 a0003c0003t0004 others(4): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0004 a0003c0003t0053 a0003c0003t0055 a0011c0014t0001 a0014c0018t0078	a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 others(8): Show a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0147 a0003c0003t0001g0119 a0003c0003t0001g0123 a0003c0003t0004g0017 a0003c0003t0053g0100 a0003c0003t0055g0127 a0011c0014t0001g0158 a0014c0018t0078g0160	11	312	0.0353	-30	c.-41 others(39): Show c.-418_-389delCTCTCTCTCTCACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		124		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089118	TCTCTCTC others(23): Show TCTCTCTCTCACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	312	0.0032	-30	c.-41 others(39): Show c.-416_-387delCTCTCTCTCACACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		122		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089120	TCTCTCTC others(23): Show TCTCTCTCACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0012 a0002c0002t0025g0012	2	312	0.0064	-30	c.-41 others(39): Show c.-414_-385delCTCTCTCACACACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		120		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089126	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01975.hp2 NA19012.hp1 HG01255.hp1 HG01975.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0001t0015 a0001c0012t0003 a0001c0001t0003 a0001c0001t0015 a0001c0012t0003	a0001c0001t0003g0002 a0001c0001t0015g0088 a0001c0012t0003g0078 a0001c0001t0003g0002 a0001c0001t0015g0088 a0001c0012t0003g0078	3	312	0.0096	-30	c.-40 others(39): Show c.-408_-379delCACACACACACACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		114		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089162	ACACACAC others(23): Show ACACACACACACACACACACACACACACACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 homoSapiens_chm13v2.hp1 HG00642.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0077 a0002c0002t0017 a0002c0002t0077	a0002c0002t0017g0273 a0002c0002t0077g0258 a0002c0002t0017g0273 a0002c0002t0077g0258	2	312	0.0064	-30	c.-37 others(39): Show c.-372_-343delCACACACACACACACACACACACACACACT	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		78		chr5	TogoVar
PREP_chr6_105268218_105408082	105374632	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA19240.hp1 HG04199.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0001 a0002c0002t0045 a0001c0008t0001 a0002c0002t0045	a0001c0008t0001g0015 a0002c0002t0045g0008 a0001c0008t0001g0015 a0002c0002t0045g0008	2	212	0.0094	-30	c.386 others(47): Show c.386-1084_386-1055delTATATATATATATATATATATATATATA TA	PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	4/14			chr6	TogoVar
PREX1_chr20_48619252_48832999	48641838	GAGAGGAA others(23): Show GAGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0045 a0002c0002t0003g0045	1	268	0.0037	-30	c.377 others(47): Show c.3775+300_3775+329delTCCTTCCTTCCTTCCTTCCTTCCTTCCT CT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	29/39			chr20	TogoVar
PREX1_chr20_48619252_48832999	48746941	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02109.hp1 HG02886.hp1 others(4): Show HG00099.hp2 HG02109.hp1 HG02886.hp1 HG02896.hp2 HG03225.hp1 HG03540.hp2 NA21309.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0016 a0003c0017 others(1): Show a0001c0001 a0001c0016 a0003c0017 a0007c0023	a0001c0001t0002 a0001c0016t0004 a0003c0017t0001 others(1): Show a0001c0001t0002 a0001c0016t0004 a0003c0017t0001 a0007c0023t0001	a0001c0001t0002g0195 a0001c0001t0002g0244 a0001c0016t0004g0066 others(4): Show a0001c0001t0002g0195 a0001c0001t0002g0244 a0001c0016t0004g0066 a0001c0016t0004g0067 a0003c0017t0001g0048 a0003c0017t0001g0064 a0007c0023t0001g0010	7	268	0.0261	-30	c.291 others(45): Show c.291+838_291+867delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	2/39			chr20	TogoVar
PRICKLE1_chr12_42451757_42594746	42527943	ATATATAT others(23): Show ATATATATATATATATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG03139.hp2 others(1): Show HG02055.hp2 HG02630.hp1 HG03139.hp2 HG03471.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0018	a0001c0001t0001 a0001c0002t0013 a0001c0003t0019 others(1): Show a0001c0001t0001 a0001c0002t0013 a0001c0003t0019 a0005c0018t0002	a0001c0001t0001g0227 a0001c0002t0013g0228 a0001c0003t0019g0121 others(1): Show a0001c0001t0001g0227 a0001c0002t0013g0228 a0001c0003t0019g0121 a0005c0018t0002g0122	4	300	0.0133	-30	c.-48 others(49): Show c.-48-55409_-48-55380delGATATATATATATATATATATATATA TATA	PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	1/7			chr12	TogoVar
PRIM2_chr6_57312630_57651850	57330353	TTTTTTTT others(23): Show TTTTTTTTGTTTTTGTTTTTTTGTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01192.hp2 others(4): Show HG00741.hp2 HG01099.hp2 HG01192.hp2 HG01891.hp1 HG01978.hp1 HG02273.hp1 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003	a0001c0003t0001g0011 a0001c0003t0002g0015 a0001c0003t0002g0037 others(4): Show a0001c0003t0001g0011 a0001c0003t0002g0015 a0001c0003t0002g0037 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0028	7	300	0.0233	-30	c.459 others(47): Show c.459+4316_459+4345delGTTTTTGTTTTTTTGTTTTTTTGTTTTT TT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57400776	ATTGTAGG others(23): Show ATTGTAGGAATGGACAAAAAAGTAGGTCTAC	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18983.hp1 HG02155.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0231 a0001c0001t0002g0198 a0001c0001t0002g0231	2	300	0.0067	-30	c.693 others(49): Show c.693+18611_693+18640delGTAGGAATGGACAAAAAAGTAGGTCT ACTT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKACB_chr1_84139271_84243498	84199088	CGTATATA others(23): Show CGTATATATGCATATATGTATATATATGCAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02922.hp1 others(2): Show HG02895.hp2 HG02897.hp2 HG02922.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0288 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0001g0288 a0001c0001t0002g0022 a0001c0001t0002g0023	5	320	0.0156	-30	c.783 others(47): Show c.783+1265_783+1294delGTATATATGCATATATGTATATATATGC AT	PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	7/9			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 5732 hits)