Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(397): Show CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC CCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCC ACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0002 a0012c0030t0002	a0012c0030t0002g0043 a0012c0030t0002g0043	1	284	0.0035	404	c.39 others(415): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGGGTG GGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGGGGTG GGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2422		chr20	TogoVar
DNAH17_chr17_78418697_78582396	78541139	G G	GGGTGGGG others(397): Show GGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGC GGGGTGCGGGGGTGAGCGGGGTGCGGGGGTGAGCGGGGTGGGGGGGTGAG CGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGATGA GCAGGTGGGGGGGTGAGCGGGGTGGGGGGATGAGCAGATGGGTGGGTGAG CGGGGTGGGGGGGGTGAGCGGATGGGAGGGTGAGCGGATGGGTGGGTGAG CGGGGTGGGTGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGTGGGTGA GCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTG AGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGATGAGCGGGGTGGGGGGAT GAGCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0221 a0005c0012t0002g0221	1	160	0.0063	404	c.253 others(423): Show c.2533-1260_2533-1259insTGCTCATCCCCCCACCCCGCTCATCC CCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACC CCCCCACCCCGCTCACCCCCCCACCCCGCTCACCCACCCACCCCGCTCAC CCCCCCACCCCGCTCACCCACCCACCCCGCTCACCCACCCATCCGCTCAC CCTCCCATCCGCTCACCCCCCCCACCCCGCTCACCCACCCATCTGCTCAT CCCCCCACCCCGCTCACCCCCCCACCTGCTCATCCCCCCACCCCGCTCAC CCCCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTCA CCCCCGCACCCCGCTCACCCCCGCACCCCGCTCACCCCCCCACCCCGCTC ACCCCCCCACCCCGCTCACCCCCCCACC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DPEP1_chr16_89608642_89643433	89634700	C C	CTCCTTTC others(397): Show CTCCTTTCCCCTTCCCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTC CTTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	184	0.0054	404	c.105 others(421): Show c.105-1208_105-1207insTCCTTTCCCCTTCCCTCCTTTCCCTTCC TTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCCTTCCTTCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPH1_chr17_2025153_2048898	2035402	C C	CGGTGGGG others(397): Show CGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGG GAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTG AGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGC CCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCT GTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGG GGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTA GTGGGGGTCCGGGTGAGGGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGG TCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGGTGGGGGCCCCTG CCTAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0164 a0003c0004t0001g0164	1	196	0.0051	404	c.279 others(419): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGA GGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCC CTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTG TGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGG GAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGCGGTGGGGAGGTAG CGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGGTGGGGG CCCCTGCCTATGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(397): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATATGTTTACACATATATATGTGT AAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTAT GTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00642.hp1 others(62): Show HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18950.hp2 NA18956.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18994.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0021 a0001c0001t0002 a0001c0001t0015 a0001c0001t0021	a0001c0001t0002g0002 a0001c0001t0002g0041 a0001c0001t0002g0042 others(61): Show a0001c0001t0002g0002 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0369 a0001c0001t0015g0044 a0001c0001t0015g0057 a0001c0001t0021g0077	65	67	0.9701	404	c.477 others(423): Show c.477+47644_477+47645insATGTTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTTAC ACATATATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(397): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTGT GTGTATGTTTACACATATATGTGTAAATATACCTGTGTGTATGTTTACAC ATATATATGTGTAAATATACCTGTGTGTATGTTTACACATATATATGTGT AAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTAT GTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	3	0.3333	404	c.477 others(423): Show c.477+47644_477+47645insATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTGTGTGTATGTTTAC ACATATATGTGTAAATATACCTGTGTGTATGTTTACACATATATATGTGT AAATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTTAC ACATATATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(397): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTGT GTGTATGTTTACACATATATGTGTAAATATACCTGTGTGTATGTTTACAC ATATATATGTGTAAATATACCTGTGTGTATGTTTACACATATATATGTGT AAATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTAT GTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp2 HG02886.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0028 a0001c0003t0013 a0001c0003t0028	a0001c0003t0013g0146 a0001c0003t0028g0155 a0001c0003t0013g0146 a0001c0003t0028g0155	2	4	0.5000	404	c.477 others(423): Show c.477+47644_477+47645insATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTGTGTGTATGTTTAC ACATATATGTGTAAATATACCTGTGTGTATGTTTACACATATATATGTGT AAATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTGT GTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTTAC ACATATATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EHMT1_chr9_137614005_137841127	137716189	G G	GTTGGTGT others(397): Show GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGG AAGTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0001 a0003c0024t0001	a0003c0024t0001g0074 a0003c0024t0001g0074	1	168	0.0060	404	c.86- others(417): Show c.86-437_86-436insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGGAGGAAGTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(397): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATTTACATACATATAAATATATATTTACATA CATATAAATATATATATTTATATACATATAATACATATACATATATACAT ATAAATATATATTTATATACATATAAATATATATATATTTATATACATAT AAATATATATATATTTATATATATATATTTATATACATATAAATATATAT ATATTTATATATATATATTTATATACATATAAATATATAATTATATACAT ATAAATATATATAATTATATACATATAAATATATATTTATATACATATAA ATATATATTTATATACATATAAATTTATATACATATAAATATAAATATTT ATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0001 a0003c0022t0001	a0003c0022t0001g0229 a0003c0022t0001g0229	1	28	0.0357	404	c.49 others(415): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAAATATATATTTATATG TATATAATTATATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATATATAAATATATATATATTTATATGTATATAAATATATA TATATAAATATATATATATTTATATGTATATAAATATATATATATTTATA TGTATATAAATATATATTTATATGTATATATGTATATGTATTATATGTAT ATAAATATATATATTTATATGTATGTAAATATATATTTATATGTATGTAA ATATATATTTATATGTATATAAATATATATATTTATATGTATATAATATA CATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	ACACCGCC others(397): Show ACACCGCCCCCACACCAGCCCCAACACCACCCCCAACACCACCCCCACAC CACCCCAATACCTCCCCAACACCACCCCCAACACCACCCCCACACCACCC CCAATACCACCCCCACACCACCCCCATCGCCCCCACACCGCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCACCACCCCCACACCACCCAC CACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCACACCA CCCCCACACCGCCCCCAACACCATCCCCCACACCACCCCCAACACCACCC CCACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAA CACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCAT GCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	67	0.0149	404	c.27 others(415): Show c.2795_*2796insCACCGCCCCCACACCAGCCCCAACACCACCCCCA ACACCACCCCCACACCACCCCAATACCTCCCCAACACCACCCCCAACACC ACCCCCACACCACCCCCAATACCACCCCCACACCACCCCCATCGCCCCCA CACCGCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCACCAC CCCCACACCACCCACCACCACCCCCAACACCACCCCAACACCACCCCAAC ACCACCCCCACACCACCCCCACACCGCCCCCAACACCATCCCCCACACCA CCCCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCC CAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAAC ACCACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCTCCC others(397): Show CTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC CTCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCC CCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	207	0.0048	404	c.427 others(421): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCTCCCCCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
IDE_chr10_92446684_92579093	92524442	A A	ATATAATA others(397): Show ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATATATAATATATATTATATTATATATAATATATAATATATA TTATATTATATATAATATATTTTATATAATATATAATATATATTATATTA TATATAATATATTTTATATAATATATAATATATATTATATTATATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	278	0.0036	404	c.661 others(421): Show c.661+7305_661+7306insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATATAATATAATATATAT TATATATTATATAAAATATATTATATATAATATAATATATATTATATATT ATATAAAATATATTATATATAATATAATATATATTATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAATATATATTATATATTATAT AAAATATATTATATATAATATAATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IDE_chr10_92446684_92579093	92524442	A A	ATATAATA others(397): Show ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATATTATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATATATAATATATATTATATTATATATAATATATTTTATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATAATATATATTATATTATATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	278	0.0036	404	c.661 others(421): Show c.661+7305_661+7306insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATATAATATAATATATAT TATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAATATATATTATATAATATAT AAAATATATTATATATAATATAATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322442	A A	AATATATA others(397): Show AATATATACATGGAATATATATATATAGAATATATACATGGAATATATAT ATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATAT ATACATGGAATATATACATGGAACATATACATGGAATATATACATGGAAC ATATACATGGAATATATATATATGGAACATATACGGAATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TGGAATATATATACGGAATATATATATATGGAATATATATACGGAATATA TATATATGGAATATATATACGGAATATATATATGGAATATATATACGGAA TATGTATATGGAATATATATATATGGAATATGTATATGGAATATATATAT GGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	191	0.0052	404	c.-26 others(415): Show c.-2614_-2613insATATATACATGGAATATATATATATAGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATATGGAAT ATATACATGGAATATATACATGGAATATATACATGGAACATATACATGGA ATATATACATGGAACATATACATGGAATATATATATATGGAACATATACG GAATATATATATGGAATATATATACGGAATATATATATATGGAATATATA TACGGAATATATATATGGAATATATATACGGAATATATATATATGGAATA TATATACGGAATATATATATATGGAATATATATACGGAATATATATATGG AATATATATACGGAATATGTATATGGAATATATATATATGGAATATGTAT ATGGAATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2527		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322442	A A	AATATATA others(397): Show AATATATACATGGAATATATATATATAGAATATATACATGGAATATATAT ATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATAT ATACATGGAATATATACATGGAACATATACATGGAATATATACATGGAAC ATATACATGGAATATATATATATGGAACATATACGGAATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TGGAATATATATACGGAATATATATATATGGAATATATATACGGAATATA TATATATGGAATATATATACGGAATATATATATGGAATATATATATGGAA TATGTATATGGAATATATATATATGGAATATGTATATGGAATATATATAT GGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00408.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0026 a0002c0002t0002 a0002c0002t0026	a0002c0002t0002g0006 a0002c0002t0026g0210 a0002c0002t0002g0006 a0002c0002t0026g0210	2	192	0.0104	404	c.-26 others(415): Show c.-2614_-2613insATATATACATGGAATATATATATATAGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATATGGAAT ATATACATGGAATATATACATGGAATATATACATGGAACATATACATGGA ATATATACATGGAACATATACATGGAATATATATATATGGAACATATACG GAATATATATATGGAATATATATACGGAATATATATATATGGAATATATA TACGGAATATATATATGGAATATATATACGGAATATATATATATGGAATA TATATACGGAATATATATATATGGAATATATATACGGAATATATATATGG AATATATATATGGAATATGTATATGGAATATATATATATGGAATATGTAT ATGGAATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2527		chr21	TogoVar
IL3RA_chrX_1331785_1387689	1360946	C C	CCTCTCTG others(397): Show CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCGCTCTCTGTCTC TCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTC TCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTC CCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCC TTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTT CCCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	67	0.0149	404	c.759 others(421): Show c.759+2063_759+2064insCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCGCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT CTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCT CTGTCTCTCTCTCCCTTCCCCTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INSR_chr19_7107265_7299414	7131008	A A	AGCTGGGA others(397): Show AGCTGGGATTACAGGCACGCATCACCACGCCCAGCTAATTTTTTTATTTT TAGTAGAAACGGGGTTCCACCATATTAGCCAGGCTGGTCTCAAACTCCTG ACCTCATGATCTACCCACCATGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACTGTGCCCGTCCCCTCTTTCTTTTCTCTCTCTTTCTCTCTTTC TTTCTCTCTCTCTCTTTCCTTCCTTCCTTCCCCCCTCTCTCTCTCTTTCT TTCTTTCCTCTCTGTTTCTCTTTTTTTTTCTTTTTTTTTTTTTTGAGACA GGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTC ACTGCAGCCTCTGCCTCCCGGTTCAAGCAATTCTCCCACCTCAGCCTCCC AAGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00738.hp1 others(30): Show HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG04199.hp1 HG04199.hp2 NA18942.hp2 NA18955.hp2 NA18993.hp1 NA19002.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0019 a0001c0024 a0001c0025 a0001c0050 a0001c0052 a0001c0055 a0001c0061 a0001c0062	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(29): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0036 a0001c0001t0081 a0001c0001t0117 a0001c0001t0139 a0001c0002t0004 a0001c0002t0008 a0001c0002t0036 a0001c0002t0079 a0001c0002t0115 a0001c0002t0142 a0001c0002t0170 a0001c0005t0016 a0001c0005t0121 a0001c0006t0016 a0001c0006t0022 a0001c0006t0051 a0001c0006t0052 a0001c0007t0004 a0001c0007t0120 a0001c0011t0008 a0001c0019t0001 a0001c0024t0023 a0001c0025t0163 a0001c0050t0023 a0001c0052t0157 a0001c0055t0021 a0001c0061t0103 a0001c0062t0074	a0001c0001t0002g0013 a0001c0001t0004g0110 a0001c0001t0004g0210 others(30): Show a0001c0001t0002g0013 a0001c0001t0004g0110 a0001c0001t0004g0210 a0001c0001t0008g0196 a0001c0001t0009g0241 a0001c0001t0036g0247 a0001c0001t0081g0148 a0001c0001t0117g0257 a0001c0001t0139g0174 a0001c0002t0004g0258 a0001c0002t0008g0183 a0001c0002t0036g0250 a0001c0002t0079g0089 a0001c0002t0115g0282 a0001c0002t0142g0157 a0001c0002t0170g0295 a0001c0005t0016g0127 a0001c0005t0121g0096 a0001c0006t0016g0105 a0001c0006t0022g0057 a0001c0006t0051g0028 a0001c0006t0052g0036 a0001c0007t0004g0194 a0001c0007t0120g0163 a0001c0011t0008g0178 a0001c0019t0001g0160 a0001c0024t0023g0030 a0001c0025t0163g0291 a0001c0050t0023g0066 a0001c0052t0157g0287 a0001c0055t0021g0075 a0001c0061t0103g0119 a0001c0062t0074g0082	33	283	0.1166	404	c.284 others(423): Show c.2842+1149_2842+1150insCACTTGGGAGGCTGAGGTGGGAGAAT TGCTTGAACCGGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCACCACTGC ACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAG AAAAAAAAAGAGAAACAGAGAGGAAAGAAAGAAAGAGAGAGAGAGGGGGG AAGGAAGGAAGGAAAGAGAGAGAGAGAAAGAAAGAGAGAAAGAGAGAGAA AAGAAAGAGGGGACGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCATGGTGGGTAGATCATGAGGTCAGGAGTTTGAGACCAGCCTG GCTAATATGGTGGAACCCCGTTTCTACTAAAAATAAAAAAATTAGCTGGG CGTGGTGATGCGTGCCTGTAATCCCAGC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	14/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7131008	A A	AGCTGGGA others(397): Show AGCTGGGATTACAGGCACGCATCACCACGCCCAGCTAATTTTTTTATTTT TAGTAGAAACGGGGTTCCACCATATTAGCCAGGCTGGTCTCAAACTCCTG ACCTCATGATCTACCCACCATGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACTGTGCCCGTCCCCTCTTTCTTTTCTCTCTCTTTCTCTCTTTC TTTCTCTCTCTCTCTTTCCTTCCTTCCTTCCCCTCTCTCTCTCTCTTTCT TTCTTTCCTCTCTGTTTCTCTTTTTTTTTCTTTTTTTTTTTTTTGAGACA GGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTC ACTGCAGCCTCTGCCTCCCGGTTCAAGCAATTCTCCCACCTCAGCCTCCC AAGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02257.hp1 others(11): Show HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0045 a0001c0047	a0001c0001t0041 a0001c0001t0090 a0001c0001t0091 others(10): Show a0001c0001t0041 a0001c0001t0090 a0001c0001t0091 a0001c0002t0028 a0001c0005t0019 a0001c0005t0028 a0001c0008t0138 a0001c0008t0146 a0001c0010t0140 a0001c0011t0147 a0001c0012t0141 a0001c0045t0169 a0001c0047t0084	a0001c0001t0041g0022 a0001c0001t0090g0122 a0001c0001t0091g0118 others(11): Show a0001c0001t0041g0022 a0001c0001t0090g0122 a0001c0001t0091g0118 a0001c0002t0028g0238 a0001c0005t0019g0031 a0001c0005t0019g0043 a0001c0005t0028g0115 a0001c0008t0138g0112 a0001c0008t0146g0117 a0001c0010t0140g0121 a0001c0011t0147g0135 a0001c0012t0141g0095 a0001c0045t0169g0300 a0001c0047t0084g0141	14	264	0.0530	404	c.284 others(423): Show c.2842+1149_2842+1150insCACTTGGGAGGCTGAGGTGGGAGAAT TGCTTGAACCGGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCACCACTGC ACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAG AAAAAAAAAGAGAAACAGAGAGGAAAGAAAGAAAGAGAGAGAGAGAGGGG AAGGAAGGAAGGAAAGAGAGAGAGAGAAAGAAAGAGAGAAAGAGAGAGAA AAGAAAGAGGGGACGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCATGGTGGGTAGATCATGAGGTCAGGAGTTTGAGACCAGCCTG GCTAATATGGTGGAACCCCGTTTCTACTAAAAATAAAAAAATTAGCTGGG CGTGGTGATGCGTGCCTGTAATCCCAGC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	14/21			chr19	TogoVar
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(397): Show GTAAAACTGGCCAGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA AAAAATAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGTGAG CTGAGATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACTCCG TCTCAAAAAAAAAAAAAAAAACCCCAGGGTAAAAAGACTTAAAGAAGGTG AGGGAGACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGGGC AACGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0005 a0001c0022t0002g0005	1	71	0.0141	404	c.93- others(421): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGGTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCCT GGCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCTA AGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG TGCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTTTTTTGTATTTT TAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTG ACCTTGTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGTG TGAGCCACGGTGCCTGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(397): Show GTAAAACTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA AAAAAATAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGTGA GCTGAGATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACTCC GTCTCAAAAAAAAAAAAAAAACCCCAGGGTAAAAAGACTTAAAGAAGGTG AGGGAGACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGGGC AACGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG02004.hp1 others(11): Show HG00642.hp1 HG01074.hp2 HG02004.hp1 HG02040.hp2 HG02257.hp1 HG02523.hp2 HG03492.hp1 NA18747.hp2 NA18956.hp1 NA18960.hp1 NA18970.hp2 NA19056.hp1 NA19056.hp2 NA19090.hp1	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0012 a0001c0018 a0001c0019 a0001c0040 a0001c0043 a0001c0064 a0011c0039 a0012c0063	a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 a0001c0004t0010 a0001c0005t0005 a0001c0012t0005 a0001c0018t0047 a0001c0019t0011 a0001c0040t0005 a0001c0043t0054 a0001c0064t0008 a0011c0039t0001 a0012c0063t0001	a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0007g0053 others(11): Show a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0007g0053 a0001c0004t0001g0004 a0001c0004t0010g0120 a0001c0005t0005g0093 a0001c0012t0005g0010 a0001c0018t0047g0112 a0001c0019t0011g0121 a0001c0040t0005g0006 a0001c0043t0054g0140 a0001c0064t0008g0011 a0011c0039t0001g0009 a0012c0063t0001g0094	14	84	0.1667	404	c.93- others(421): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGGTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCCTG GCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCTAA GTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGT GCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTTTTTTTGTATTTT TAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTG ACCTTGTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGTG TGAGCCACGGTGCCCGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(397): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	150	0.0067	404	c.-67 others(423): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(397): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0005 a0001c0001t0003g0006	2	151	0.0132	404	c.-67 others(423): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(397): Show GATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGA TATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATATATATATATCCAAGAGGATATATATATATATATA TATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATCCAAGAGGATATA TATATCTATATATATCCAAGAGGATATATATATCTATATATATCCAAGAG GATATATATCTATATATATCCAAGAGGATATATATATATATATATCCAAG AGGAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	63	0.0159	404	c.-67 others(423): Show c.-67-49164_-67-49163insCCAAGAGGATATATATATATATATAT CCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATAT ATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATCCAA GAGGATATATATATCTATATATATCCAAGAGGATATATATATCTATATAT ATCCAAGAGGATATATATCTATATATATCCAAGAGGATATATATATATAT ATATCCAAGAGGATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(397): Show GATATATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATATA TATATATATATATCTCCAAAAGGAGATATATATATATATATATATCTCCA AAAGGAGATATATATATATATATATATCTCCAAGAGGAGATATATATATA TATATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTC CTCTTGGAGATATATATATATATATATATATCTCCAAGAGGAGATATATA TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAG GAGAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	117	0.0085	404	c.-67 others(423): Show c.-67-48586_-67-48585insATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAAAGGAG ATATATATATATATATATATCTCCAAAAGGAGATATATATATATATATAT ATCTCCAAGAGGAGATATATATATATATATATATATATCTCCAAGAGGAG ATATATATATATATATATATATCTCCTCTTGGAGATATATATATATATAT ATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATAT ATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATAT ATATATATATATATATCTCCAAGAGGAGATATATATATATATATATATCT CCAAGAGGAGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(397): Show TTACCACCACCATACCACCACCATCACCATCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCAT CACCACCACCACCACCATCACCACCATCACCATCACCACCATCACCATCA CCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATC ACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCAC CACCATCACCACCATCACCACCACCACCATCACCATCACCACCACCATCA CCATTATCACCACCACCATCACCACCATCACCATCACCACCATCACCATC ACCAC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0134 a0002c0001t0002g0134	1	196	0.0051	404	c.691 others(419): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGT GATGGTGGTGGTATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45229004	A A	ACACCACC others(397): Show ACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCA AACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGA GAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCT CTCCACCCCCACCACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCC CACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAC TCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCACC CGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATC CCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCAC CCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0275 a0001c0001t0122g0275	1	192	0.0052	404	c.64+ others(421): Show c.64+11635_64+11636insGGGGGGTGGAGAGGGATCTTTCGGGTGA GTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGT GGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGG GTGGAGAGGGATCTTTCGGGTGAGTGAGTGGTGGTTGGGGGGTGGAGAGG GATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGATGGGGAGGGATCTTTC GGGTGAGTGGTGGTGGTGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTT GGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGGTGGTTGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGTTTGGTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KLKB1_chr4_186222507_186263471	186239530	T T	TGTTATAG others(397): Show TGTTATAGGAAACTAGTACAGTGATACTGTTAGAGTTATAGGTACAGTGA CATAGGACAGTGATACTGTTATAGTTATAGGAAACTAGTACAGTGATACT GTTAGAGTTATAGGTACAGTGATATAGGACAGTGATACTGTTATAGTTAT AGGAAACTAGTACAGTGATACTGTTATAGTTATAGGACAGTGATATTGTT ATAGTTATAGGAAACTAGTACAGTGATACTGTTAGAGTTATAGGTACAGT GATATAGGACAGTGATATTGTTATAGTTATAGGAAACTAGTACAGTGATA CTGTTATAGTTATAGGACAGTGATATAGGACAGTGATATTGTTATAGTTA TAGGAAACTAGTACGGTGATACTGTTATAGTTATAGGTACAGTGATATTG TTATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0223 a0002c0003t0002g0223	1	424	0.0024	404	c.598 others(421): Show c.598+1215_598+1618dupCATAGGACAGTGATACTGTTATAGTTAT AGGAAACTAGTACAGTGATACTGTTAGAGTTATAGGTACAGTGATATAGG ACAGTGATACTGTTATAGTTATAGGAAACTAGTACAGTGATACTGTTATA GTTATAGGACAGTGATATTGTTATAGTTATAGGAAACTAGTACAGTGATA CTGTTAGAGTTATAGGTACAGTGATATAGGACAGTGATATTGTTATAGTT ATAGGAAACTAGTACAGTGATACTGTTATAGTTATAGGACAGTGATATAG GACAGTGATATTGTTATAGTTATAGGAAACTAGTACGGTGATACTGTTAT AGTTATAGGTACAGTGATATTGTTATAGTTATAGGAAACTAGTACAGTGA TACTGTTAGAGTTATAGGTACAGTGA	KLKB1	ENSG00000164344.17	transcript	ENST00000264690.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARS1_chr5_146108034_146187650	146174469	T T	TATATATA others(397): Show TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATCCATATATA TATCCATATATATATATCCATATATATATCCATATATATATATCCATATA TATATCCATATATATATATCCATATATATATCCATATATATATATCCATA TATATGGATATATATATATCCATATATATCTATCCATATATATATCCATA TATCTATCCATATATATATCCATATATATATATCCATATATATATCCATA TATATATATCCATATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0260 a0002c0002t0002g0260	1	274	0.0036	404	c.126 others(421): Show c.126-1696_126-1695insGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATATATGGATATATATATATGGATATATATATGGATATAT ATATATGGATATATATATGGATAGATATATGGATATATATATGGATAGAT ATATATGGATATATATATATCCATATATATGGATATATATATATGGATAT ATATATGGATATATATATATGGATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATGGATATATATATGGATATATATATGGAT ATATATATATGGATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174469	T T	TATATATA others(397): Show TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATCCATATATA TATCCATATATATATATCCATATATATATCCATATATATATATCCATATA TATATCCATATATATATATCCATATATATGGATATATATATATCCATATA TATCTATCCATATATATATCCATATATATCTATCCATATATATATCCATA TATCTATCCATATATATATCCATATATATATATCCATATATATATCCATA TATATATATCCATATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	274	0.0036	404	c.126 others(421): Show c.126-1696_126-1695insGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATATATGGATATATATATATGGATATATATATGGATATAT ATATATGGATATATATATGGATAGATATATGGATATATATATGGATAGAT ATATATGGATATATATATGGATAGATATATATGGATATATATATATCCAT ATATATGGATATATATATATGGATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATGGATATATATATGGATATATATATGGAT ATATATATATGGATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(397): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATCATATATTATATAATAATATAT AATCATATATTATATATAATATATAATTATATATTATATAATAATATATA ATTATTAATATATAATTATATATAATATATAATTATATATTATATAATAA TATATAATTATATATTATATATAATTATATATTATATAATAACATATAAT TATATATAATATATAAATATATAATATATAAATATATAATATATAAATAT ATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01516.hp2 HG01169.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	58	0.0345	404	c.622 others(419): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATCATATATTATATAATAATATATA ATCATATATTATATATAATATATAATTATATATTATATAATAATATATAA TTATTAATATATAATTATATATAATATATAATTATATATTATATAATAAT ATATAATTATATATTATATATAATTATATATTATATAATAACATATAATT ATATATAATATATAAATATATAATATATAAATATATAATATATAAATATA TATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(397): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACC CTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCGCACTTACACCCACGCTTACATCTA CCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACATC TACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCA CACTC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	220	0.0045	404	c.129 others(423): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCACTTACAC CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LTBP2_chr14_74493183_74617237	74564177	A A	ATATATAT others(397): Show ATATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTATATATATATATTTATATATATATTTATATATATATTTATATATATAT ATTTATATATATATTTTTATATATATATTTATATATATATTTTTATATAT ATATTTATATATATATTTTTATATATATATTTATATATATATATTTATAT ATATTTATATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATATTTATATATATTTATATATATTTATATAT ATTTTTATATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATTTATATATATTTATATATATATTTATATAT ATATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	230	0.0043	404	c.831 others(421): Show c.831-8485_831-8484insAATATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATATAAAAATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATATATAAATA TATATATAAAAATATATATATAAATATATATATAAAAATATATATATAAA TATATATATAAAAATATATATATAAATATATATATATAAATATATATATA AATATATATATAAATATATATATATAAATATATATATAAATATATATATA TAAATATATATATAAATATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LUC7L_chr16_183990_234449	186255	G G	GGAGGAAC others(397): Show GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	294	0.0034	404	c.29 others(415): Show c.2942_*2943insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2734		chr16	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(397): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATATAAA TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT ATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAA ATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAATAT ATAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02523.hp1 HG02602.hp2 HG01081.hp2 HG02523.hp1 HG02602.hp2	a0003 a0004 a0031 a0003 a0004 a0031	a0003c0001 a0004c0096 a0031c0087 a0003c0001 a0004c0096 a0031c0087	a0003c0001t0001 a0004c0096t0001 a0031c0087t0002 a0003c0001t0001 a0004c0096t0001 a0031c0087t0002	a0003c0001t0001g0135 a0004c0096t0001g0098 a0031c0087t0002g0064 a0003c0001t0001g0135 a0004c0096t0001g0098 a0031c0087t0002g0064	3	10	0.3000	404	c.342 others(423): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AAATATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATA TAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAA TATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(397): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT ATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAA ATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAATAT ATAAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0008 a0003c0001t0001g0008	1	8	0.1250	404	c.342 others(423): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATA TAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAA TATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(397): Show TATATATATAATTTTATAATATAATATAATTATATAATATATAATTTATA TATAATTATATATATATAATTTATATATAATATAATTATATAATATATAA TTTATATATAATATAATTATATAATATATAATTTATATATAATATAATTT ATATAATATATAATTTATATATTATATAATTATATAATATATAATTTTAT ATATAATATAATTATATAATATATAATTTTATATATAATATAATTATATA ATATATAATTTATATATAATATAATTATATAATATATAATTTATATATAA TATAATTATATAATATATAATTTATATATAATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	404	c.-31 others(415): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAAATTATA TATTATATAATTATATTATATATAAAATTATATATTATATAATTATATAA TATATAAATTATATATTATATAAATTATATTATATATAAATTATATATTA TATAATTATATTATATATAAATTATATATTATATAATTATATTATATATA AATTATATATATATAATTATATATAAATTATATATTATATAATTATATTA TATTATAAAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
METTL25B_chr1_156723469_156741960	156735545	A A	AAAAAAAA others(397): Show AAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTAC TTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTA TGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTA AAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGAT CAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACA AAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTG AGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCC ATCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp2 HG04115.hp2 HG00280.hp1 HG01099.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0215 a0001c0001t0003g0067 a0001c0001t0003g0215	3	388	0.0077	404	c.112 others(421): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735546	A A	AAAAAAAA others(397): Show AAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTAC TTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTA TGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTA AAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGAT CAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTG AGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCC ATCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA20300.hp1 HG03130.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0068 a0001c0009t0001g0068 a0001c0001t0001g0068 a0001c0009t0001g0068	2	387	0.0052	404	c.112 others(421): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735545	A A	AAAAAAAA others(397): Show AAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTAC TTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTA TGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTA AAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGAT CAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACA AAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTG AGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCC ATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG04115.hp2 HG00280.hp2 HG01099.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	3	362	0.0083	404	c.18 others(415): Show c.1852_*1853insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1757		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735546	A A	AAAAAAAA others(397): Show AAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTAC TTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTA TGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTA AAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGAT CAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTG AGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCC ATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	2	361	0.0055	404	c.18 others(415): Show c.1851_*1852insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1756		chr1	TogoVar
MTTP_chr4_99569824_99628997	99589009	A A	ACATATAT others(397): Show ACATATATATGTTCATATATATACTCATATATATATGTTCATATATATAC TCATATATATGTTCATATATATACTCATATATATGTTCATATATATACTC ATATATATGTTCATATATATACTCATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0127 a0005c0005t0001g0127	1	347	0.0029	404	c.394 others(419): Show c.394-611_394-610insTCATATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATACTCATAT ATATGTTCATATATATACTCATATATATGTTCATATATATACTCATATAT ATGTTCATATATATACTCATATATATGTTCATATATATTCATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATGTTCATATATATAC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(397): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATTATAATATAATATATATTATATAAAATATATATTATATTA TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	117	0.0085	404	c.51 others(415): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATATAATATAATATATATTTTATATAATATATATTATATATAA TATAATATATATTTTATATAATATATATTATATATAATATAATATATATT TTATATAATATATATTATATATAATATAATATATATTTTATATAATATAT ATTATATTATAATATAATATATATTATATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTA TATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(397): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTC GTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGT AGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAG TGTTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0316	1	4	0.2500	404	c.160 others(421): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACTACTGCCACCGCCGCCACCACCACCATCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TATATCGA others(397): Show TATATCGATAATACACATCTATGTATTATATATCGATAATACACATCTAT GTATTATATATCGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATA TATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0073 a0003c0007t0001g0073	1	134	0.0075	404	c.332 others(423): Show c.332+40394_332+40395insTATATCGATAATACACATCTATGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA CATATCGATAATACACATCTATGTATTA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NADSYN1_chr11_71448203_71506816	71459054	T T	TCCCTATG others(397): Show TCCCTATGGAGGCCTCTGCACGCTCTGTGCTGGTGTCTGTGCTGTACCCT GCATAGCTGGTCCCTATGGAGGCCTCTGCACACGCTGTGCTGGTGTCTGT GCTGTACCCTGCATAGCCAGTCCCTGTGGAGGCCTTTGTGTGTGCTGTGC TGGTGTCTGTGCGGTCCCTGCATAGCCGCCCCTATGGAGGCCTCTGCATG AGCTGTGCTGTGCCCTGCATAGCTGGTCCCTATGGAGGCCTCTGTGTGCG CTGTGCTGGCGTCTGTGCTGTCCCTGCATAGCCGGTCCCCTATGGAGGCC TCTGCTCACGCTGTGCTGGTGTCTGTGCTGTCCCTGCTTAGCCACCCCTA TGGAGGCCTCTGTGTGTGCTGTGCTGGTGTCTGTGCTGTCCCTGCATAGC CGGTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02965.hp1 HG02559.hp1 HG02630.hp1 HG02965.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0104 a0006c0010t0003g0105 a0006c0010t0003g0106 a0006c0010t0003g0104 a0006c0010t0003g0105 a0006c0010t0003g0106	3	352	0.0085	404	c.263 others(419): Show c.263+532_263+935dupCTCTGTGCTGGTGTCTGTGCTGTACCCTGC ATAGCTGGTCCCTATGGAGGCCTCTGCACACGCTGTGCTGGTGTCTGTGC TGTACCCTGCATAGCCAGTCCCTGTGGAGGCCTTTGTGTGTGCTGTGCTG GTGTCTGTGCGGTCCCTGCATAGCCGCCCCTATGGAGGCCTCTGCATGAG CTGTGCTGTGCCCTGCATAGCTGGTCCCTATGGAGGCCTCTGTGTGCGCT GTGCTGGCGTCTGTGCTGTCCCTGCATAGCCGGTCCCCTATGGAGGCCTC TGCTCACGCTGTGCTGGTGTCTGTGCTGTCCCTGCTTAGCCACCCCTATG GAGGCCTCTGTGTGTGCTGTGCTGGTGTCTGTGCTGTCCCTGCATAGCCG GTCCCCTATGGAGGCCTCTGCACG	NADSYN1	ENSG00000172890.13	transcript	ENST00000319023.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
NME4_chr16_392199_405754	397652	C C	CGGGGTGG others(397): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGTGGGGGGG TGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	342	0.0029	404	c.91+ others(417): Show c.91+357_91+358insGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGTGGGGGGGT GAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397709	T T	TGGGGGGG others(397): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGTGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGGTGAG GGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGTGGGGTGGGGGGTGTGAGGGAGTCGGGGGGGGTGG GGGTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	299	0.0033	404	c.91+ others(417): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGTGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAG TTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGG GTGGGGGGTGTGAGGGAGTCGGGGGGGGTGGGGGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(397): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAG TGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGG GTGCATGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATG GGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGG GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATG GGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGG GTGCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0001 a0025c0038t0001	a0025c0038t0001g0202 a0025c0038t0001g0202	1	206	0.0049	404	c.140 others(421): Show c.140+8514_140+8515insTGCACCCATTGCCCCAGGAGGGATCCTG AGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTGA GTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTG AGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGA GTGCTCCCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTG AGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(397): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCC CCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCC CTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0173 a0001c0001t0041g0173	1	206	0.0049	404	c.433 others(421): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGGAGGGTGGGAGGGGAGGG GAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56739723	C C	CGATCCCC others(397): Show CGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCC AGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGA GGGCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA21309.hp1 HG01884.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0217 a0001c0001t0014g0218 a0001c0001t0014g0217 a0001c0001t0014g0218	2	358	0.0056	404	c.-14 others(421): Show c.-14-8509_-14-8508insTCCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACA GAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGAGGGCTGA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results