Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATA others(235): Show ATTATATATTATATATATTATATAATATATATAATATATATATAATATAT AATATATAATATATTATTATATATATTATAAATTATATAATATATATAAT ATATATATTATATATAATATATTATATATTATATAATATATAATATATAT AATATATAATATATTATATATAATATATTATATATTATATAATATATATA TAATATATAATATATAATATATATATTATATATGATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	240	0.0042	242	c.36 others(253): Show c.3665_*3666insATTATATATCATATATAATATATATATTATATAT TATATATTATATATATATTATATAATATATAATATATTATATATAATATA TTATATATTATATATATTATATATTATATAATATATAATATATTATATAT AATATATATATTATATATATTATATAATTTATAATATATATAATAATATA TTATATATTATATATTATATATATATTATATATATTATATAATATATATA ATATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATA others(235): Show ATTATATATTATATATATTATATAATATATATAATATATATATAATATAT AATATATAATATATTATTATATATATTATAAATTATATAATATATATAAT ATATATATTATATATAATATATTATATATTATATAATTTATAATATATAT AATATATAATATATTATATATAATATATTATATATTATATAATATATATA TAATATATAATATATAATATATATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	240	0.0042	242	c.36 others(253): Show c.3665_*3666insATTATATATTATATATAATATATATATTATATAT TATATATTATATATATATTATATAATATATAATATATTATATATAATATA TTATATATTATATATATTATAAATTATATAATATATAATATATTATATAT AATATATATATTATATATATTATATAATTTATAATATATATAATAATATA TTATATATTATATATTATATATATATTATATATATTATATAATATATATA ATATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATA others(235): Show ATTATATATTATATATATTATATAATATATATAATATATATATAATATAT AATATATAATATATTATTATATATATTATAAATTATATAATATATATAAT ATATATATTATATATAATATATTATATATTATATTATATATAATATATAT AATATATAATATATTATATATAATATATTATATATTATATAATATATATA TAATATATAATATATAATATATATATAATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	240	0.0042	242	c.36 others(253): Show c.3665_*3666insATTATATATTATATATTATATATATATTATATAT TATATATTATATATATATTATATAATATATAATATATTATATATAATATA TTATATATTATATATATTATATATAATATAATATATAATATATTATATAT AATATATATATTATATATATTATATAATTTATAATATATATAATAATATA TTATATATTATATATTATATATATATTATATATATTATATAATATATATA ATATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATA others(235): Show ATTATATATTATATATATTATATAATATATATAATATATATATAATATAT AATATATAATATATTATTATATATATTATAAATTATATAATATATATAAT ATATATATTATATATAATATATTATATATTATATTATATATAATATATAT AATATATAATATATTATATATAATATATTATATATTATATAATATATATA TAATATATAATATATAATATATATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02132.hp1 NA18955.hp1 others(9): Show HG00597.hp1 HG02132.hp1 NA18955.hp1 NA18970.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18998.hp1 NA19003.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0096 a0001c0001t0001g0097 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0179 a0001c0001t0001g0180	12	240	0.0500	242	c.36 others(253): Show c.3665_*3666insATTATATATTATATATAATATATATATTATATAT TATATATTATATATATATTATATAATATATAATATATTATATATAATATA TTATATATTATATATATTATATATAATATAATATATAATATATTATATAT AATATATATATTATATATATTATATAATTTATAATATATATAATAATATA TTATATATTATATATTATATATATATTATATATATTATATAATATATATA ATATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATA others(235): Show ATTATATATTATATATATTATATCATATATATAATATATATATAATATAT AATATATAATATATTATTATATATATTATAAATTATATAATATATATAAT ATATATATTATATATAATATATTATATATTATATAATATATAATATATAT AATATATAATATATTATATATAATATATTATATATTATATAATATATATA TAATATATAATATATAATATATATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	240	0.0042	242	c.36 others(253): Show c.3665_*3666insATTATATATTATATATAATATATATATTATATAT TATATATTATATATATATTATATAATATATAATATATTATATATAATATA TTATATATTATATATATTATATATTATATAATATATAATATATTATATAT AATATATATATTATATATATTATATAATTTATAATATATATAATAATATA TTATATATTATATATTATATATATATTATATATATGATATAATATATATA ATATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269079	A A	ATATATTA others(235): Show ATATATTATATAATATATATAATATAATATAATATAATAATATATAATAT ATTATATATATATTATAAATTATATATATATATAATATATATATTCATAT ATAATATATTATATATTATATCATATATAATATATATAATATATATATAT ATTATATATAATATATTATATATTATATAATATATATATAATATATAATA TATAATATATATATTATATATAAATATTAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	240	0.0042	242	c.36 others(253): Show c.3653_*3654insATATATATATATATTAATATTTATATATAATATA TATATTATATATTATATATTATATATATATTATATAATATATAATATATT ATATATAATATATATATATATTATATATATTATATATGATATAATATATA ATATATTATATATGAATATATATATTATATATATATATAATTTATAATAT ATATATAATATATTATATATTATTATATTATATTATATTATATATATTAT ATAATATA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2388		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269106	A A	ATAATATA others(235): Show ATAATATATAATATATAATATATTATTATATATATTATAAATTATATAAT ATATATAATATATATATTATATATAATATATTATATATTATATAATATAT AATATATATAATATATAATATATTATATATAATATATTATATATTATATA ATATATATATAATATATAATATATAATATATATATTATATATAATATATA ATATATATATTATATATAATATATAATATATAAAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	240	0.0042	242	c.36 others(253): Show c.3626_*3627insATTATATATTTTATATATTATATATTATATATAA TATATATATTATATATTATATATAATATATATATTATATATTATATATTA TATATATATTATATAATATATAATATATTATATATAATATATTATATATT ATATATATTATATATTATATAATATATAATATATTATATATAATATATAT ATTATATATATTATATAATTTATAATATATATAATAATATATTATATATT ATATATTA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2361		chrX	TogoVar
DEAF1_chr11_639233_700222	685805	C C	CAGGAGAT others(235): Show CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAGTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	345	0.0029	242	c.805 others(257): Show c.805-843_805-842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCGTGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAC TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	5/11			chr11	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(235): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	284	0.0035	242	c.101 others(261): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(235): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19085.hp1 HG02132.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0131 a0001c0001t0001g0147	2	284	0.0070	242	c.101 others(261): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593875	T T	TTCTCCCC others(235): Show TTCTCCCCTCTCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0194 a0001c0006t0009g0194	1	284	0.0035	242	c.101 others(261): Show c.101-32101_101-32100insTCTCCCCTCTCCTCCCCTCCCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIP2C_chr10_269201_694668	429405	C C	CCCCCCGG others(235): Show CCCCCCGGACCCTGGCTGCCTCCCCCCCGGACCCTGGCTGCCTCCCCCCC CGGGCCCTGGCTGCCTCCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGC CCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGC TGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTC CCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0014 a0001c0019t0006g0014	1	88	0.0114	242	c.395 others(259): Show c.395-6373_395-6372insAGGCAGCCAGGGCCCGGGGGGGAGGCAG CCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGG CCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGG GGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGGA GGCAGCCAGGGCCCGGGGGGGGAGGCAGCCAGGGTCCGGGGGGGAGGCAG CCAGGGTCCGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGAAGAA others(235): Show GGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAAGGGAGGG GAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGA GGGGCGGGGCGGGGCGGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	88	0.0114	242	c.158 others(259): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC TTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTC CCTTCTTCTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCC TCCCTTCTTCTTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522760	G G	GGCCCAGC others(235): Show GGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGA GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0002 a0014c0034t0002	a0014c0034t0002g0019 a0014c0034t0002g0019	1	358	0.0028	242	c.236 others(261): Show c.2363-1182_2363-1181insGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DNAI7_chr12_25103289_25200160	25106550	G G	GTACAGTA others(235): Show GTACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAA GCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCT CCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCAC ACACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTA ACTATTAGGATTAAAGAAATGCATATACATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01258.hp1 others(3): Show HG01175.hp1 HG01256.hp2 HG01258.hp1 HG02717.hp2 HG03834.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0224 a0002c0002t0001g0196 a0002c0002t0001g0199 others(3): Show a0001c0001t0001g0224 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0002t0001g0213	6	336	0.0179	242	c.19 others(253): Show c.1997_*1998insTATATATATATATATGTATATGCATTTCTTTAAT CCTAATAGTTACAAAGGGTGGGAGGCAGATTGTTTCCAAAACTATATATG TGTGTGTGTGTGCATGTTTAACCATACTTTATTAAACACTTTAATCTCAG CACTTTGGGAGGCCAAGAAAGGGGATTCCTCCCAAGGATCTCAGGACTCC AGGGATTGCTTGAGCCCTGGAGTTGGAGGCTGTAGTGAGCTATGGTTGCA CTACTGTA	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1738		chr12	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(235): Show GAGAGAGAGAGAGACAGAGAGGAGAGAGAGAGAGAGAGAGAGACGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGACAGAGAG GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGACAGAGAGGAGAGAGAGAGAGACAGA GAGGAGAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	242	c.29 others(253): Show c.2942_*2943insAGAGAGAGAGAGACAGAGAGGAGAGAGAGAGAGA GAGAGAGACGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGA GAGAGAGACAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGACAGAGAGGAG AGAGAGAGAGACAGAGAGGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA CAGAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DOCK1_chr10_126900428_127457516	127362837	A A	ACACATGC others(235): Show ACACATGCACATTCCCACACACACATACACATACACATCCCCCCACACAC ACATACACATGTACATCTCCACACACACACATACACATCCCCACACACAC ATACACATCCCCACACACACATACACATGCACATCCCCCCACACACATAC ACATGCACATCCACACATACACACACACACACATGCGCATCCCCACACAC ACACACATACACATACACATCCCCCCACACACACGCACATCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp2 HG02055.hp1 HG02922.hp2	a0001 a0001	a0001c0034 a0001c0038 a0001c0034 a0001c0038	a0001c0034t0001 a0001c0038t0001 a0001c0034t0001 a0001c0038t0001	a0001c0034t0001g0015 a0001c0038t0001g0076 a0001c0034t0001g0015 a0001c0038t0001g0076	2	136	0.0147	242	c.343 others(259): Show c.3432+629_3432+630insTGCACATTCCCACACACACATACACATA CACATCCCCCCACACACACATACACATGTACATCTCCACACACACACATA CACATCCCCACACACACATACACATCCCCACACACACATACACATGCACA TCCCCCCACACACATACACATGCACATCCACACATACACACACACACACA TGCGCATCCCCACACACACACACATACACATACACATCCCCCCACACACA CGCACATCCCCACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619121	C C	CTGCCCCC others(235): Show CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCC CCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	250	0.0040	242	c.-10 others(261): Show c.-107+5411_-107+5412insGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619210	C C	CCCTGCCC others(235): Show CCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCACCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	250	0.0040	242	c.-10 others(261): Show c.-107+5493_-107+5494insTGCCCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCACCCCGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATG CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP6_chr7_154047398_154899285	154062306	G G	GAGGACCC others(235): Show GAGGACCCCCATCGCAGGAGGGGGAGGCACCCCCCACGAGAGTGGCGACT GAGAGCTATCCCCTCTTCTGCCCCTGGCTGTTAGTACCCCCATCGCAGGG TGGGGGAGGCACCCCCCCGTGAGGCAGGGACTGAGAGCCAGCCCCTGTTC CCCCACTGGCTCTTAGGACACCCATCGCAGAGGGGGGAGGCACCCCCACG AGGCGGGGACTGAGAGCCAGTCCCTCTTCCCCCCCTGGCTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02486.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0002c0004 a0001c0021 a0002c0004	a0001c0021t0011 a0002c0004t0004 a0001c0021t0011 a0002c0004t0004	a0001c0021t0011g0022 a0002c0004t0004g0008 a0001c0021t0011g0022 a0002c0004t0004g0008	2	38	0.0526	242	c.243 others(259): Show c.243+9277_243+9278insACGAGAGTGGCGACTGAGAGCTATCCCC TCTTCTGCCCCTGGCTGTTAGTACCCCCATCGCAGGGTGGGGGAGGCACC CCCCCGTGAGGCAGGGACTGAGAGCCAGCCCCTGTTCCCCCACTGGCTCT TAGGACACCCATCGCAGAGGGGGGAGGCACCCCCACGAGGCGGGGACTGA GAGCCAGTCCCTCTTCCCCCCCTGGCTCTTAGGACCCCCATCGCAGGAGG GGGAGGCACCCCCC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154062811	G G	GGGGGAGG others(235): Show GGGGGAGGCACCCCCAATGAGAGTGGGGACTGAGAGCTATCCCCTCTTCC GCCCCTGGCTGTTAATACCCTCATCGCAAGGGGTTGAGGCACCCCCCGCG AGGCAGGGACTGAGAGCCAGTCCCTCTTCCCCCCCTGGCTCTTAAGACCC CCATCACAGAAGGGGGAGGCACCCCCCGCGAGGGTGGGGACTGAGAGCTA TCCCCTCTTCTGCCCCTGGCTGTTAGTACCCGCATCGCAGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0004 a0002c0009t0004g0004	1	38	0.0263	242	c.243 others(259): Show c.243+9752_243+9753insAGGCACCCCCAATGAGAGTGGGGACTGA GAGCTATCCCCTCTTCCGCCCCTGGCTGTTAATACCCTCATCGCAAGGGG TTGAGGCACCCCCCGCGAGGCAGGGACTGAGAGCCAGTCCCTCTTCCCCC CCTGGCTCTTAAGACCCCCATCACAGAAGGGGGAGGCACCCCCCGCGAGG GTGGGGACTGAGAGCTATCCCCTCTTCTGCCCCTGGCTGTTAGTACCCGC ATCGCAGGGTGGGG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYM_chr18_49031387_49465645	49440994	A A	ATTTATAT others(235): Show ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATGACTATATATTATATATTTATATAA TATATGACTATATATTATATATTTATATAATATATGACTATATATTATAT ATTTATATAATATATTTATATAAATACATTATATTTTATATATTTATATA AATACATTATATTTTATATATTTATATAAATACATTATATTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA20752.hp1 HG01243.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0138 a0001c0001t0004g0123 a0001c0001t0004g0138	2	290	0.0069	242	c.-53 others(261): Show c.-53-10548_-53-10547insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATAAAATATAATGTATTTATAT AAATATATTATATAAATATATAATATATAGTCATATATTATATAAATATA TAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTA TATAAATATATAATATATAGTCATATATTATATAAATATATAATATATAG TCATATATTATATAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(235): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAA TATATAATATATATATTATGTATAATATATATTATATATTATACATAATA TATAATATATATTACGTAATATATTACATATATTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	312	0.0032	242	c.-37 others(253): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACGTAATA TATATTATATATTATGTATAATATATAATATATATTATACATAATATATA TATTATATATTATATATTATACATAATATATATATTATATATTATATATT ATATATTATGTATAATATATAATATATAATATATTATATATTACATATAA TATATTATATGTAATATATAACATATATTACATAATATATGTAATATATT ATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATATATT others(235): Show TATATATTATATATTATATATATTACATAATATATTACATATATTATGTA ATATATGTTATATATTACATATAATATATGTAATATATAATATATTATAT ATTATACGTAATATATAATATAATATATATATATTATATATATATTATGT ATTATATATATAATATATTATACATAATATATAATATATATTACGTAATA TATTACATATATTATATATAATATATATTACGTAATATATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG04184.hp2 HG01516.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0272 a0001c0001t0003g0273	2	312	0.0064	242	c.-38 others(253): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATAATA TATGTAATATATTACGTAATATATATTATATATTATGTATAATATATTAT ATATATAATACATAATATATATATAATATATATATATTATATTATATATT ACGTATAATATATAATATATTATATATTACATATATTATATGTAATATAT AACATATATTACATAATATATGTAATATATTATGTAATATATATAATATA TAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
FLT3_chr13_27998274_28105576	27998752	A A	ATATATAT others(235): Show ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTGTATATAAATATATATATTTGTATATAAATATATATATTTAT ATATAAATATATGTTATATATATTTATATATAAATATGTTATATATATTT ATATATAAATATATGTTATATATATTTATATATAAATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02738.hp1 HG00323.hp2 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0156 a0002c0002t0001g0003 a0002c0002t0001g0156	2	292	0.0069	242	c.52 others(253): Show c.5299_*5300insACATATATTTATATATAAATATATATAACATATA TTTATATATAAATATATATAACATATTTATATATAAATATATATAACATA TATTTATATATAAATATATATATTTATATACAAATATATATATTTATATA CAAATATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4521		chr13	TogoVar
FOXK2_chr17_82514732_82609602	82586259	G G	GGGGAAAG others(235): Show GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCAGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0139 a0001c0001t0013g0139	1	308	0.0033	242	c.157 others(257): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTAGGCAGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586304	C C	CCGGGGGG others(235): Show CCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCAGT GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGG GGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0064 a0001c0001t0024g0064	1	308	0.0033	242	c.157 others(259): Show c.1576+142_1576+143insGAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAATGGAGGAGA GGGGAGACCACAGGGAAGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAATGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586454	G G	GGGGAAAG others(235): Show GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCAGTGGGG GAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGAGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGCAGGCGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0034 a0001c0001t0013g0034	1	308	0.0033	242	c.157 others(259): Show c.1576+257_1576+258insAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGT GAAAGGTGGGCAGTGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGCAGGCGGAGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXQ1_chr6_1307098_1319758	1317225	C C	CCCTCCCC others(235): Show CCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCTCC CCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCC CCTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGC CCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0000 a0003c0002t0003g0000	1	406	0.0025	242	c.33 others(253): Show c.3309_*3310insCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTC CAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCC TCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCC GCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCC TCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2468		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(235): Show CCTCCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCC CCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCA CCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCA CTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCCGCCCACTTCTCCCGC CCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	406	0.0025	242	c.33 others(253): Show c.3310_*3311insCTCCCCCCACCCACCTCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCT CCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCC GCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCC TCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241807607	T T	TCCCTCCC others(235): Show TCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0086 a0001c0001t0001g0089	2	314	0.0064	242	c.34 others(253): Show c.3441_*3442insCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACGTCT GCAGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3321		chr2	TogoVar
GMDS_chr6_1618806_2250605	1652607	T T	TATATATA others(235): Show TATATATAATATATATCATTTATATATAATATATTATATATATTATATAT AATATATATCATTTATATATAATATATTATATATATTATATATAATATAT ATCATTTATATATAATATATTATATATATTATATATAATATATATCATTT ATATATAATATATAATATATATTATATATAATATATATCATTTATATATA ATATATAATATATATTATATATAATATATATCATTTATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	166	0.0060	242	c.988 others(261): Show c.988-28068_988-28067insTATATATAAATGATATATATTATATA TAATATATATTATATATTATATATAAATGATATATATTATATATAATATA TATTATATATTATATATAAATGATATATATTATATATAATATATATAATA TATTATATATAAATGATATATATTATATATAATATATATAATATATTATA TATAAATGATATATATTATATATAATATATATAATATATTATATATAAAT GATATATATTATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMEB2_chr20_63582605_63632101	63608325	C C	CACCTCCA others(235): Show CACCTCCATTTCCAGAAACATGCCCCTCTGACCCCACACATCCATTTCTA GAAACATGTCCCTCTGACTCACCTCCATTTCTAGAAACGTGCCACTCTGA CCCCACACATCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTC CAGAAACATGCCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCC TCTGACTCACCTCCATTTCTAGAAACATGCCACTCTGACCCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp2 HG03195.hp2 others(1): Show HG01891.hp2 HG02897.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0013 a0001c0004t0004g0082 a0001c0004t0004g0085 a0001c0004t0004g0013 a0001c0004t0004g0082 a0001c0004t0004g0085	4	330	0.0121	242	c.132 others(259): Show c.132-3486_132-3485insTGGGGTCAGAGTGGCATGTTTCTAGAAA TGGAGGTGAGTCAGAGGGACATGTTTCTAGAAATGGATGTGTGGGGTCAG AGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGGGCATGTTTCTAGA AATGGATGTGTGGGGTCAGAGTGGCACGTTTCTAGAAATGGAGGTGAGTC AGAGGGACATGTTTCTAGAAATGGATGTGTGGGGTCAGAGGGGCATGTTT CTGGAAATGGAGGT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCCCCC others(235): Show GCCCCCCCCCGTGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCA TGCTGCCCGTGTGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCGCCCCGCCCCGCCCCGCCCCTCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	422	0.0024	242	c.31 others(253): Show c.3138_*3139insGGAGGGGAGGGGCGGGGCGGGGCGGGGCGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGG GCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCACA CGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCACG GGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GOLGA3_chr12_132763914_132833869	132787671	C C	CTTCCCAG others(235): Show CTTCCCAGAACCCCTGGGACCCTTCCCCGGAGACCCCGGGACCCCTCCCC AGAACCCCTGGGACCCTTCCCCGGAGACCCCGGGACCCCTCCCCGGAGAC CCCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCAGAACCCCTGGG ACCCTTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACCCCT CCCCGGAGACCACGGGACCCCTCCCCAGAACCCCTGGGACCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0008 a0011c0017t0008	a0011c0017t0008g0267 a0011c0017t0008g0267	1	308	0.0033	242	c.281 others(259): Show c.2812-885_2812-884insAGGGTCCCAGGGGTTCTGGGGAGGGGTC CCGTGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGG TCTCCGGGGAAGGGTCCCAGGGGTTCTGGGGAGGGGTCCCGTGGTCTCCG GGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGGAAG GGTCCCAGGGGTTCTGGGGAGGGGTCCCGGGGTCTCCGGGGAAGGGTCCC AGGGGTTCTGGGAA	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132787693	C C	CTTCCCAG others(235): Show CTTCCCAGAACCCCTGGGACCCTTCCCCGGAGACCCCGGGACCCCTCCCC AGAACCCCTGGGACCCTTCCCCGGAGACCCCGGGACCCCTCCCCGGAGAC CCCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCAGAACCCCTGGG ACCCTTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACCCCT CCCCGGAGACCACGGGACCCCTCCCCAGAACCCCTGGGACCCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0278 a0003c0004t0008g0278	1	308	0.0033	242	c.281 others(259): Show c.2812-907_2812-906insAGGGTCCCAGGGGTTCTGGGGAGGGGTC CCGTGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGG TCTCCGGGGAAGGGTCCCAGGGGTTCTGGGGAGGGGTCCCGTGGTCTCCG GGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGGAAG GGTCCCAGGGGTTCTGGGGAGGGGTCCCGGGGTCTCCGGGGAAGGGTCCC AGGGGTTCTGGGAA	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132787715	C C	CTTCCCAG others(235): Show CTTCCCAGAACCCCTGGGACCCTTCCCCGGAGACCCCGGGACCCCTCCCC AGAACCCCTGGGACCCTTCCCCGGAGACCCCGGGACCCCTCCCCGGAGAC CCCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCAGAACCCCTGGG ACCCTTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACCCCT CCCCGGAGACCACGGGACCCCTCCCCAGAACCCCTGGGACCCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA20805.hp2 HG02004.hp2 NA20805.hp2	a0004 a0013 a0004 a0013	a0004c0036 a0013c0035 a0004c0036 a0013c0035	a0004c0036t0008 a0013c0035t0035 a0004c0036t0008 a0013c0035t0035	a0004c0036t0008g0263 a0013c0035t0035g0262 a0004c0036t0008g0263 a0013c0035t0035g0262	2	308	0.0065	242	c.281 others(259): Show c.2812-929_2812-928insAGGGTCCCAGGGGTTCTGGGGAGGGGTC CCGTGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGG TCTCCGGGGAAGGGTCCCAGGGGTTCTGGGGAGGGGTCCCGTGGTCTCCG GGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGGAAG GGTCCCAGGGGTTCTGGGGAGGGGTCCCGGGGTCTCCGGGGAAGGGTCCC AGGGGTTCTGGGAA	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GPIHBP1_chr8_143208218_143222170	143218336	C C	CAACACCA others(235): Show CAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAA CCCCCCAACACCACCACCAACACCACCACAACACCATCCCCAACACCACC CCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCA ACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACAC CACCCAACACCATGCCCCACACCACCCCCAACACCACCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	106	0.0094	242	c.28 others(253): Show c.2818_*2819insAACACCACCCCCAACACCACCCCCAACACCATCC CCAACACCCCAATAACCCCCCAACACCACCACCAACACCACCACAACACC ATCCCCAACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAGCC CCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAA CACCACCCCCAACACCACCCAACACCATGCCCCACACCACCCCCAACACC ACCCCCAA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1167		chr8	TogoVar
GRM7_chr3_6856115_7746533	7276785	T T	TCCTTCCT others(235): Show TCCTTCCTTCCTCCCTCCCTTCCCTTCCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCC CTCCCTTCCCTTCCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTCCCTTC CTTCCTTCCTTCCTTTCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCCTTCCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp2 HG03195.hp2 others(1): Show HG02895.hp2 HG02922.hp2 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0004 a0001c0001t0001 a0001c0002t0002 a0001c0003t0004	a0001c0001t0001g0070 a0001c0002t0002g0023 a0001c0003t0004g0061 others(1): Show a0001c0001t0001g0070 a0001c0002t0002g0023 a0001c0003t0004g0061 a0001c0003t0004g0062	4	80	0.0500	242	c.737 others(261): Show c.737-21888_737-21887insCCCTCCCTTCCCTTCCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTCCCTTCCCTTCCCTTCCTTCCTTCCCTCCCTCCCTC CCTCCTCCCTTCCTTCCTTCCTTCCTTTCTTCCTTCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCCTTCCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCTCCCTTCCTTCCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7276785	T T	TCCTTCCT others(235): Show TCCTTCCTTCCTCCCTCCCTTCCCTTCCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCTCCCTTCCCTTCCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTCC CTTCCTTCCTTCCTTCCTTTCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCCCTTCCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0035 a0001c0003t0001g0035	1	80	0.0125	242	c.737 others(261): Show c.737-21888_737-21887insCCCTCCCTTCCCTTCCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTCCCTCCCTTCCCTTCCCTTCCTTCCTTCCCTCCCTC CCTCCCTCCTCCCTTCCTTCCTTCCTTCCTTTCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTCCCTCCCCTTCCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCTCCCTTCCTTCCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(235): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	290	0.0035	242	c.427 others(259): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTPBP6_chrX_299759_323796	316177	C C	CACACAGA others(235): Show CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC ACACACACACACACACACAGTAAATACATCCCGACAGGGACAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0073 a0002c0034t0003g0073	1	155	0.0065	242	c.487 others(257): Show c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC TGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTG CGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGT GTGTCTCTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HDAC9_chr7_18490749_19007416	18751603	T T	TGAAATGG others(235): Show TGAAATGGAACTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0055 a0001c0004t0055	a0001c0004t0055g0144 a0001c0004t0055g0144	1	156	0.0064	242	c.204 others(261): Show c.2043+2479_2043+2480insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GAGAAATGGAACTTCT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	14/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(235): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACA TGTTATATTACATGTATATATACATGTTATATTACATGCATATATACATG TTATATTACATGTATATATACATGTTATATTACATGTATATATACATGTT ATATTACATGTATATATACATGTTATATTACATGTATATATACATGTTAT ATTACATGTATATATACATGTTATATTACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	344	0.0029	242	c.31 others(253): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACATGTTATATTACATGTATATATACATGTTATATTAC ATGCATATATACATGTTATATTACATGTATATATACATGTTATATTACAT GTATATATACATGTTATATTACATGTATATATACATGTTATATTACATGT ATATATACATGTTATATTACATGTATATATACATGTTATATTACATGTAT ATATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(235): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACA TGTTATATTACATGTATATATACATGTTATATTACATGTATATATACATG TTATATTACATGTATATATACATGTTATATTACATGTATATATACATGTT ATATTACATGTATATATACATGTTATATTACATGTATATATACATGTTAT ATTACATGTATATATACATGTTATATTACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 NA18970.hp2 NA18972.hp2 HG02004.hp2 NA18970.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0231 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0231	3	344	0.0087	242	c.31 others(253): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACATGTTATATTACATGTATATATACATGTTATATTAC ATGTATATATACATGTTATATTACATGTATATATACATGTTATATTACAT GTATATATACATGTTATATTACATGTATATATACATGTTATATTACATGT ATATATACATGTTATATTACATGTATATATACATGTTATATTACATGTAT ATATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(235): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0280 a0001c0001t0016g0280	1	314	0.0032	242	c.661 others(259): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IRAG2_chr12_25047706_25113335	25106550	G G	GTACAGTA others(235): Show GTACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAA GCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCT CCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCAC ACACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTA ACTATTAGGATTAAAGAAATGCATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01175.hp1 others(5): Show HG00609.hp1 HG00621.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG02717.hp2 HG03834.hp2 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0002 a0003c0003t0004	a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0002g0281 others(5): Show a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0002g0281 a0002c0002t0001g0063 a0003c0003t0002g0184 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0004g0318	8	344	0.0233	242	c.114 others(259): Show c.1149-392_1149-391insACAGTAGTGCAACCATAGCTCACTACAG CCTCCAACTCCAGGGCTCAAGCAATCCCTGGAGTCCTGAGATCCTTGGGA GGAATCCCCTTTCTTGGCCTCCCAAAGTGCTGAGATTAAAGTGTTTAATA AAGTATGGTTAAACATGCACACACACACACATATATAGTTTTGGAAACAA TCTGCCTCCCACCCTTTGTAACTATTAGGATTAAAGAAATGCATATACAT ATATATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB5_chr3_124756948_124892365	124866151	T T	TTTTGTAT others(235): Show TTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0045 a0003c0004t0004g0045	1	352	0.0028	242	c.157 others(259): Show c.157-6706_157-6705insCGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATACAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	2/14			chr3	TogoVar
ITPR2_chr12_26330352_26838194	26831677	T T	TTTATACA others(235): Show TTTATACATATTTATTTATATAAATATATATATTTATATAAATATATATA TATTCTACATAAAATATATAAATATATATTCTACATAAAATATATAAATA TATATTCTACATAAAATATATAAATATATATTCTACATAAAATATATAAA TATATATTATACATAAAATATATAAATATATATTATACATAAAATATATA AATATATATTATACATAAAATATATAAATATATATTATACATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0054 a0001c0043t0054	a0001c0043t0054g0140 a0001c0043t0054g0140	1	142	0.0070	242	c.92+ others(257): Show c.92+1012_92+1013insTATGTATAATATATATTTATATATTTTATG TATAATATATATTTATATATTTTATGTATAATATATATTTATATATTTTA TGTATAATATATATTTATATATTTTATGTAGAATATATATTTATATATTT TATGTAGAATATATATTTATATATTTTATGTAGAATATATATTTATATAT TTTATGTAGAATATATATATATTTATATAAATATATATATTTATATAAAT AAATATGTATAA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26831677	T T	TTTATATA others(235): Show TTTATATATATTTATTTATATAAATATATATATTTATATAAATATATATA TATTCTACATAAAATATATAAATATATATTCTACATAAAATATATAAATA TATATTCTACATAAAATATATAAATATATATTCTACATAAAATATATAAA TATATATTATACATAAAATATATAAATATATATTATACATAAAATATATA AATATATATTATACATAAAATATATAAATATATATTATACATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG01361.hp1 others(1): Show HG01261.hp2 HG01346.hp2 HG01361.hp1 NA20752.hp2	a0001 a0001	a0001c0025 a0001c0027 a0001c0054 a0001c0025 a0001c0027 a0001c0054	a0001c0025t0024 a0001c0027t0055 a0001c0027t0056 others(1): Show a0001c0025t0024 a0001c0027t0055 a0001c0027t0056 a0001c0054t0023	a0001c0025t0024g0139 a0001c0027t0055g0137 a0001c0027t0056g0138 others(1): Show a0001c0025t0024g0139 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0054t0023g0136	4	142	0.0282	242	c.92+ others(257): Show c.92+1012_92+1013insTATGTATAATATATATTTATATATTTTATG TATAATATATATTTATATATTTTATGTATAATATATATTTATATATTTTA TGTATAATATATATTTATATATTTTATGTAGAATATATATTTATATATTT TATGTAGAATATATATTTATATATTTTATGTAGAATATATATTTATATAT TTTATGTAGAATATATATATATTTATATAAATATATATATTTATATAAAT AAATATATATAA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar

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