Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ATP9B_chr18_79064394_79383283	79327515	G G	GTTAGCGT others(647): Show GTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGCTCTC CGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGC CCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGC GTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATG GTTAGCGTGCTCGCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTC CGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTGC TCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGC GTGCTCTCTCCATGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTG GTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTC CGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCATGC TCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGT GTGCTCTCTCCATGGTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTG GTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTC CGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG03471.hp2 HG01891.hp1 HG02559.hp1 HG03471.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297	3	298	0.0101	654	c.177 others(673): Show c.1774-1587_1774-1586insACGTGCTCTCCGTGGTTAACGTGCCC TCCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGT GCTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTA GCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCGCCG TGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCC TCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGT GCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCCATGGT TAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGCTCTCCG TGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGCCC TCCCTGGTTAGCGTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCGT GCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGT TAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCG TGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTC TCCGTGGTTAGCGTGCTCTCCGTGGTTA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BSND_chr1_54993933_55022172	55003060	G G	GAGATGCT others(647): Show GAGATGCTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGAT AATAGTGATGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGTGA CAATGGTGATGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGA TGGTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATA GTGATGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGTGACAAT GGTGATGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGATGGT GATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATAGTGA TGATGATGGTGAGGATGGTGATGGTGAAGATGGTGATGATGAGATTGGTG ATAGAATGGTGATGGTAATGACGATGTTGATGGTAATGAAGATGTCAATG ATGGTGATGTGATGATAATGATGGTAACGGTTATGATGATGGTGATGGTG ATAATGATAATGGTGATGATGATGGTAATGGTCACGATGGTGATAGTGAT GATGATAGTGGTGATAATGATGGTGATGTTGATAATTTTGGTGGTGATAA TAGTTATGGTGATGATTGATGGTAATGAGGATGAGGATGATGACGATTAT TATTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02647.hp1 others(8): Show HG02109.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02976.hp1 HG02976.hp2 HG03831.hp1 HG03834.hp2 NA18992.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0071 a0001c0001t0148 others(6): Show a0001c0001t0063 a0001c0001t0071 a0001c0001t0148 a0001c0001t0202 a0001c0001t0222 a0001c0001t0244 a0001c0001t0264 a0001c0001t0265 a0001c0001t0268	a0001c0001t0063g0043 a0001c0001t0071g0027 a0001c0001t0148g0108 others(6): Show a0001c0001t0063g0043 a0001c0001t0071g0027 a0001c0001t0148g0108 a0001c0001t0202g0075 a0001c0001t0222g0027 a0001c0001t0244g0069 a0001c0001t0264g0078 a0001c0001t0265g0074 a0001c0001t0268g0070	11	448	0.0246	654	c.178 others(671): Show c.178-1962_178-1961insAGATGCTGATGATGAGGATGGTGATGGT GAGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGA TGGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTG ATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGA ATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGATGGT GAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTGATGA TGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGAATGG TAATGGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGTGAAG ATGGTGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGATGTTG ATGGTAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGTAACG GTTATGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGGTAAT GGTCACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTGATGT TGATAATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAATGAG GATGAGGATGATGACGATTATTATTA	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3			chr1	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(647): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTG GTGAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	292	0.0034	654	c.21 others(669): Show c.21-379_*21-378insATCACCACCACCACCATCACCATCACCACC ATCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCAC CATCACCACCATCACCACCATCACCATCACCACCACCACCATCACCACCA TCACTGCCACCATCACCATCACCACCATCACCACCATCACCACCATCATC ACCACCACCACCACCATCACCACCATCATCACCATCACCACCACCACCAC CACCACCATCACCATCACCACCACCATCACCACCATCACCGTCACCACCA TCACCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACC ACCACCATCACCACCATCATCACTATCACCACCATCACCACCATCATCAC CACCACCACCACCACCATCACCACCACCATCACCACCATCACCATCACCA CCATCATCACCACCACCGTCACCCCCATCATTACCATCACCACCACCACC ACCACCACCATGACCACCACCACCACCACTCTCACCATCATCATCACTGT CACCACCACCACCACCACCACCACCATCACTACCATCGTCACCATCACCA CTACCTCCATCTCCACCACTACCACCCCCACCACCACTCTCACCACCATC ACCATCACCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2CD4C_chr19_400445_414147	410809	A A	ATCTGTCC others(647): Show ATCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GAGCCGGGAGGAGGGTCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCCCGAGCCGGGAGGAGGGTCCTGGGGATCTGTCCACTGCCCCT GCTGGGCCCGGATCCTTGGGGATCTGTCCACCGTCACTGCTGGGCCCGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTC CACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCGCCCCTGCT GGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCT GGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0051 a0001c0002t0037g0051	1	322	0.0031	654	c.-18 others(665): Show c.-1845_-1844insCCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCAAGGAT CCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGAT CCCCAAGGATCCGGGCCCAGCAGGGGCAGTGGACAGATCCCCAGGACCCT CCTCCCGGCTCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCC CCAGGACCCTCCTCCCGGCTCGGGCCCAGCAGGGGCGGTGGACAGACCCC CAGGATCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCC CAGCAGTGACGGTGGACAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1663		chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(647): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCATCACCATCACCACCATCTCACCATCACCATCACCACC ATCATCACCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCAC CATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCA CCAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCATC AACACCACCATCACCACCACCATCATCATCACCACCACCACCATCACCAC CATCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0064 a0005c0008t0064	a0005c0008t0064g0078 a0005c0008t0064g0078	1	376	0.0027	654	c.63+ others(667): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGAT GGTGAGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTG GTGATGGTGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTG GTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGAT GGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTG GTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATG GTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTG GTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGAT GATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12401066	T T	TTATATAT others(647): Show TTATATATATAATATATGTATTATATATTATATATATATTTTATATATAT AATATATGTATTATATATATTATATATATATTTTATATATATATAATATA TGTATTATATATATTATATATATATTTTATATATATATAATATATGTATT ATATATATTATATATATATTTTATATATATATAATATATGTATTATATAT ATTATATATATATTTTATATATATATAATATATGTATAATATATATTATA CATATATTATATATATATAATATATGTATTATATATATTATACATATATT ATATATATATATAATATATGTATTATATATATTATACATATATTATATAT ATATATAATATATGTATTATATATATTATACATATATTTTATATATATAT AATATATGTATTATATATATTATATATATATTTTATATATATATAATATA TGTATTATATATATTATATATATATTTTATATATATATAATATATGTATT ATATATATTATATATATATTTTATATATATATAATATATGTATTATATAT ATTATATATATATTTTATATATATATAATATATGTATTATATATATTATA TATATATTTTATATATATATAATATATGTATTATATATATTATATATATA TTTTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0018 a0001c0001t0011g0018	1	214	0.0047	654	c.92+ others(671): Show c.92+51183_92+51184insTATATATATATTTTATATATATAATATA TGTATTATATATATTATATATATATTTTATATATATATAATATATGTATT ATATATATTATATATATATTTTATATATATATAATATATGTATTATATAT ATTATATATATATTTTATATATATATAATATATGTATTATATATATTATA TATATATTTTATATATATATAATATATGTATAATATATATTATACATATA TTATATATATATAATATATGTATTATATATATTATACATATATTATATAT ATATATAATATATGTATTATATATATTATACATATATTATATATATATAT AATATATGTATTATATATATTATACATATATTTTATATATATATAATATA TGTATTATATATATTATATATATATTTTATATATATATAATATATGTATT ATATATATTATATATATATTTTATATATATATAATATATGTATTATATAT ATTATATATATATTTTATATATATATAATATATGTATTATATATATTATA TATATATTTTATATATATATAATATATGTATTATATATATTATATATATA TTTTATATATATATAATATATGTATTATATATATTATATATATATTTTAT ATATATATAATATATGTATTATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12401066	T T	TTATATAT others(647): Show TTATATATATAATATATGTATTATATATTATATATATATTTTATATATAT AATATATGTATTATATATATTATATATATATTTTATATATATATAATATA TGTATTATATATATTATATATATATTTTATATATATATAATATATGTATT ATATATATTATATATATATTTTATATATATATAATATATGTATTATATAT ATTATATATATATTTTATATATATATAATATATGTATAATATATATTATA CATATATTATATATATATAATATATGTATTATATATATTATACATATATT ATATATATATATAATATATGTATTATATATATTATACATATATTTTATAT ATATATAATATATGTATTATATATATTATACATATATTTTATATATATAT AATATATGTATTATATATATTATATATATATTTTATATATATATAATATA TGTATTATATATATTATATATATATTTTATATATATATAATATATGTATT ATATATATTATATATATATTTTATATATATATAATATATGTATTATATAT ATTATATATATATTTTATATATATATAATATATGTATTATATATATTATA TATATATTTTATATATATATAATATATGTATTATATATATTATATATATA TTTTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	214	0.0047	654	c.92+ others(671): Show c.92+51183_92+51184insTATATATATATTTTATATATATAATATA TGTATTATATATATTATATATATATTTTATATATATATAATATATGTATT ATATATATTATATATATATTTTATATATATATAATATATGTATTATATAT ATTATATATATATTTTATATATATATAATATATGTATTATATATATTATA TATATATTTTATATATATATAATATATGTATAATATATATTATACATATA TTATATATATATAATATATGTATTATATATATTATACATATATTATATAT ATATATAATATATGTATTATATATATTATACATATATTTTATATATATAT AATATATGTATTATATATATTATACATATATTTTATATATATATAATATA TGTATTATATATATTATATATATATTTTATATATATATAATATATGTATT ATATATATTATATATATATTTTATATATATATAATATATGTATTATATAT ATTATATATATATTTTATATATATATAATATATGTATTATATATATTATA TATATATTTTATATATATATAATATATGTATTATATATATTATATATATA TTTTATATATATATAATATATGTATTATATATATTATATATATATTTTAT ATATATATAATATATGTATTATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CMIP_chr16_81439808_81716762	81704622	T T	TCTCCTCC others(647): Show TCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTCCTCCCTG CCCCCTTACTCTCCTCCCTGCCCCTTAACCCTCCTCCCTGCTCCCCTCAC CCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTCCTCCCTC CCCCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCTCACCCCC CTCCCTGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCC TCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTACCCCTCACCCTCCTC CCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCC TCACCCTCCTCCCTGCTCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCT CCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCC TCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCTTCCT CCCTGCCCCTTCACCCGCCTCCCTGCCCACTCACCCTCCTCCCTGCCCCC GCACCTTCTTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACTCTCCT CCCTAACTTGTTCACCCTCCTCCCTACCCCTTCATTCTCCTCCCTGCCCC CCACC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG00735.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0106 a0001c0001t0003g0107	2	268	0.0075	654	c.209 others(671): Show c.2091+547_2091+548insCCCCCTCACCCTCCTCCCTGCCCCCCAC CCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTAACCCTCCTCCCT GCTCCCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCC CCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCC CCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTC CTCCCTGCCCCTCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTACCCC TCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCT CCCTGCTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCCCTGCCCC CTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCC TCTCTTTCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCC CTCACCTTCCTCCCTGCCCCTTCACCCGCCTCCCTGCCCACTCACCCTCC TCCCTGCCCCCGCACCTTCTTCCCTGCCCCCTCACCCTCCTCCCTGCCCC CTCACTCTCCTCCCTAACTTGTTCACCCTCCTCCCTACCCCTTCATTCTC CTCCCTGCCCCCCACCCTCCTCCCTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704622	T T	TCTCCTCC others(647): Show TCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTCCTCCCTG CCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCAC CCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTCCTCCCTC ACCCTCCCCCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCCTCACCCTTC TCCCTGCCCCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCCCTGCCCCC TCACCCTCCTCCCTACCCCTCACCCTCCTCCCTGCCCCTTCATCCTCCTC CCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGCTCCC TCACCCTCCTCAGTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCT CCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCC TCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCTTCCT CCCTGCCCCTTCACCCTCCTCCCTGCCCACTCACCCTCCTCCCTGCCCCC GCACCTTCTTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACTCTCCT CCCTAACTTGTTCACCCTCCTCCCTACCCCTTCATTCTCCTCCCTGCCCC CCACC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	268	0.0037	654	c.209 others(671): Show c.2091+547_2091+548insCCCCCTCACCCTCCTCCCTGCCCCCCAC CCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCT GCTCCCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCC CCTCCTCCCTCACCCTCCCCCTCCTCCCTCCCCCGTCCCTCCTCCCTCCC CCTCACCCTTCTCCCTGCCCCCTCACCCCCCTCCCTGCCCCTCACCCTCC TCCCTGCCCCCTCACCCTCCTCCCTACCCCTCACCCTCCTCCCTGCCCCT TCATCCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCC TCCCTGCTCCCTCACCCTCCTCAGTGCCCCCTCACCCTCCTCCCTGCCCC CTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCC TCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCC CTCACCTTCCTCCCTGCCCCTTCACCCTCCTCCCTGCCCACTCACCCTCC TCCCTGCCCCCGCACCTTCTTCCCTGCCCCCTCACCCTCCTCCCTGCCCC CTCACTCTCCTCCCTAACTTGTTCACCCTCCTCCCTACCCCTTCATTCTC CTCCCTGCCCCCCACCCTCCTCCCTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL18A1_chr21_45400165_45518720	45500919	T T	TGTGTTGG others(647): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTG TGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGT GTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTGGGGGTGTGTAGTGTGGGGGTGTG GTTTG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0279 a0010c0014t0001g0279	1	292	0.0034	654	c.268 others(673): Show c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG TAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTG GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A2_chr13_110302284_110518209	110481668	A A	AGTTCTGT others(647): Show AGTTCTGTCCTTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCC CTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACT GCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGA GACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCT CTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTC TGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGA CACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGT TGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGAC ACACT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG06807.hp1 HG01192.hp1 HG06807.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0032 a0003c0026t0001g0034 a0003c0026t0001g0032 a0003c0026t0001g0034	2	372	0.0054	654	c.275 others(671): Show c.2759-835_2759-834insGTTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGA GACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGAC ACACTGCTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGT TGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACA CACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATT GCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGT CCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTG CTGGAGACACACTGTTCTGTCCTTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
DOCK8_chr9_209865_470255	400571	A A	ACCTCCAC others(647): Show ACCTCCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCAC CACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCT CCACCACCTCCACCACCACCACCACCACCACCTCCACCACCACCACCACC TCCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCATCACCTCCACCACCA CCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCAC CATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACC ACCTCCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCAC CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCACCACCACCACCTCCACCACCACCACCACCTCCACCTCCACC ACCACCACCACCAGCATCTTCACCATCACCTCCACCACCACCACCACCAC CACCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0108 a0007c0108	a0007c0108t0012 a0007c0108t0012	a0007c0108t0012g0229 a0007c0108t0012g0229	1	256	0.0039	654	c.323 others(673): Show c.3234+1314_3234+1315insTCCACCACCACCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCACCTCCACCACCTCCACCACCACCACCACCACC ACCTCCACCACCACCACCACCTCCACCTCCACCACCACCACCACCTCCAC CACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCT CCACCATCACCTCCACCACCACCACCACCACCTCCACCTCCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACC ACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACC ACCACCACCTCCACCTCCACCACCACCACCACCAGCATCTTCACCATCAC CTCCACCACCACCACCACCACCACCTCC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400809	T T	TCACCACC others(647): Show TCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAC CACCACCTCCACCACCACCACCTCCACCATCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCACCTCCACCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCT CCACCATCACCACCACCTCCACCACCACCTCCACCACCACCACCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCACCACCACCACCACCTCCACCACCACCACCTCCACCATCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCAC CACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCATCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0095 a0002c0095	a0002c0095t0001 a0002c0095t0001	a0002c0095t0001g0002 a0002c0095t0001g0002	1	256	0.0039	654	c.323 others(673): Show c.3234+1557_3234+1558insTCCACCATCACCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCACCACCACCACCACCTCCACCACCACCACCTCCACCATCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCAC CACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCTCCAC CACCACCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATC TTCACCATCACCACCACCTCCACCACCACCACCACCACCTCCACCACCAC CACCTCCACCATCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCATCACCACCTCCACCATCACCACCACCACCTCCACCATCAC CACCACCACCTCCACCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(647): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGGAAGGG AGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGGGAAG GGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAGGAGG GAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAG GAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAG GGAGGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAG GAGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02615.hp2 others(4): Show HG02055.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02965.hp1 HG03139.hp1	a0001 a0017 a0029 a0001 a0017 a0029	a0001c0001 a0017c0025 a0029c0031 a0001c0001 a0017c0025 a0029c0031	a0001c0001t0002 a0017c0025t0002 a0029c0031t0002 a0001c0001t0002 a0017c0025t0002 a0029c0031t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(4): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0017c0025t0002g0011 a0029c0031t0002g0012	7	290	0.0241	654	c.757 others(671): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCTTCCCT CCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCC TCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTT TCCTCCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTC TTCCTTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTTTCCCTCCTTC CCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCT ACCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTCCC TTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTTCCCTCCTT CCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTC CCCTCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCT TCCCTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCC TCCATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCC TTCCCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGAAGA others(647): Show GGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAAGA GGGAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGA GGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGAG GAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGAGGAGGGAGGAGAGGAGGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGG GAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGG AAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAAGAAGGGAGGGGGTA TTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	294	0.0034	654	c.-38 others(665): Show c.-3845_-3844insGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGA GGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAAGAGGGAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGA GGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAG GAGGGTGTGAAGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAG GGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGGTGTGAAGGG AGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGA GGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGT GTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAG GGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAA AGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
GPIHBP1_chr8_143208218_143222170	143218331	A A	ACCCCAAC others(647): Show ACCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCC CAACACCACCCCCCACACCACCCCCAACACCACCCCCAACACCACCGCCA ACACCACCCCAACACCACCCCAACACCATCCCCAACACCATCCCCAACAC CATCCCCCACCACCACCCCCACACCGCCCCCACACCACCCCCAACACCAC CCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCC ACACCACCCCAACACCACCCAACACCATCCCCCACACCACCCCCACCACC ACCCCCACACCGCCCCCACACCACCCCCAACACCACCCCCAACACCAGCC CCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCATCCCCAA CACCACCCCCAATACCACCCCCACACCACCCCCATCGCCCCCACACCGCC CCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACATCACCCCC ACCACCCCCACACCACCCCCACACCACCCCCAACACCATCCCCAACACCA GCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCC CAACACCACCCCCAACACCACCCAACACCATGCCCCACACCACCCCCAAC ACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0004 a0001c0004t0003g0004	1	106	0.0094	654	c.28 others(665): Show c.2813_*2814insCCCCAACACCATCCCCAACACCACCCCAACACCA CCCCCAACACCACCCCAACACCACCCCCCACACCACCCCCAACACCACCC CCAACACCACCGCCAACACCACCCCAACACCACCCCAACACCATCCCCAA CACCATCCCCAACACCATCCCCCACCACCACCCCCACACCGCCCCCACAC CACCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTC CCCAACACCACCCCCACACCACCCCAACACCACCCAACACCATCCCCCAC ACCACCCCCACCACCACCCCCACACCGCCCCCACACCACCCCCAACACCA CCCCCAACACCAGCCCCAACACCACCCCAACACCACCCCCAACACCACCC CAACACCATCCCCAACACCACCCCCAATACCACCCCCACACCACCCCCAT CGCCCCCACACCGCCCCAACACCACCCCCAACACCACCCCCAACACCACC CCCAACATCACCCCCACCACCCCCACACCACCCCCACACCACCCCCAACA CCATCCCCAACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACC ACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCC CACACCACCCCCAACACCAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1162		chr8	TogoVar
GPR35_chr2_240620480_240638159	240625887	G G	GGGTTCTC others(647): Show GGGTTCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAG GCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAG TGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGG GGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAG CTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTG GGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGGGG TCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTG TGATGGGGGTCTCAGAGCGGGGTGAGGGGGGTGAGGCTGTGATGGGGGTC TCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTG ATGGGTTCTCAGAGCGGGGTGAGGCTATGACGGGGTCTCAGAGCGGGGTG AGTCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGA GCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGG GTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGCGAGGCT GTGAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	400	0.0025	654	c.-5+ others(667): Show c.-5+321_-5+322insTTCTCAGAGCAGGGTGAGGCTGTGATGGGGTC TCAGAGTGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTG ATGGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAG GTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCT CAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGA TGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGT GAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAG AGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAGGGGGGTGAG GCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAG CGGGGTGAGGCTGTGATGGGTTCTCAGAGCGGGGTGAGGCTATGACGGGG TCTCAGAGCGGGGTGAGTCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTC TGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGG CGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCA GAGTGGGGCGAGGCTGTGACGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM3_chr7_86638909_86869879	86655539	C C	CAAAAATT others(647): Show CAAAAATTAGTATGCCTAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATACATAACGG AATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTATGCAGCC ATAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGGAACTGGA AGCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAAACACCGC ATGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATGGACACAG GGAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTGGGAGGAG GGAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATACCTAGGT GATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCTATGTAAC AAACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAAACAATGC ACAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGAAAGGTTT CTTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	216	0.0046	654	c.-14 others(675): Show c.-141+10685_-141+10686insCGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTA TAATAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATAC ATAACGGAATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTA TGCAGCCATAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGG AACTGGAAGCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAA ACACCGCATGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATG GACACAGGGAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTG GGAGGAGGGAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATA CCTAGGTGATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCT ATGTAACAAACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAA ACAATGCACAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGA AAGGTTTCTTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAA AAAAAAAAAAAAAAAAATTAGTATGCCTAG	GRM3	ENSG00000198822.11	transcript	ENST00000361669.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(647): Show GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGA CACAAACACATACACACGCAGACACACACACACACACACAAACAGTAAAT ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA CACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02735.hp2 NA18941.hp1 others(1): Show HG00639.hp1 HG02735.hp2 NA18941.hp1 NA18942.hp2	a0004 a0005 a0007 others(1): Show a0004 a0005 a0007 a0008	a0004c0006 a0005c0019 a0007c0008 others(1): Show a0004c0006 a0005c0019 a0007c0008 a0008c0009	a0004c0006t0001 a0005c0019t0001 a0007c0008t0001 others(1): Show a0004c0006t0001 a0005c0019t0001 a0007c0008t0001 a0008c0009t0001	a0004c0006t0001g0020 a0005c0019t0001g0022 a0007c0008t0001g0011 others(1): Show a0004c0006t0001g0020 a0005c0019t0001g0022 a0007c0008t0001g0011 a0008c0009t0001g0016	4	155	0.0258	654	c.488 others(669): Show c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTAC TGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCC TGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGT GTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(647): Show GACACACACACACACACACACACACACACACTAAATACATCCCGACAGGG ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC CCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAA CACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0024 a0005c0010t0001g0024	1	155	0.0065	654	c.488 others(669): Show c.488-702_488-701insGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGT GTGTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTG TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG TATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG TGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT GTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT ACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTC CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGT GTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTG TCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
JAKMIP3_chr10_132060946_132189858	132173125	C C	CCTCTCTC others(647): Show CCTCTCTCTCTCCCCCTCCCCTCCTTCCCTCTCTCTCTCCCCTCCCCCCT CCTTCCCTCTCTCTCCCCCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCCTCTCCCTCCCCCTCCCCC TCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCTCCCCCTCTGTCTCC CCCTCCCCTCCCCCCTCCCCCCTCTGTCTCCCCCTCCCCTCCCCCCCCTC CCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCCCCTCTCTCCCCCTCCCC TCCCCCCTCTCTCCCCGTCCCCTCCCCCCTCTCTCCCCCTCCCCCTCCCC CCTCTCTCCCTCCCCCCTCTCTCCCCTCCCCCCTCTCTCCCCTCCCCCTC CTTCCCTCTCCCTCTCCCCTCCCCTTCCTTCCCTCTCCCCCTCCCCCTCC TTCCCTCTCCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCATCCTTCCC TCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCC TCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCC TCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0149 a0001c0006t0003g0149	1	158	0.0063	654	c.11 others(675): Show c.1103+4110_*1103+4111insCCTCCTTCCCTCTCTCTCTCCCCT CCCCCCTCCTTCCCTCTCTCTCCCCCCCCTCCCCCCTCTCCCCTCCCCTC CCCCCTCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCCTCTCCCTCCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCTCCCCCTC TGTCTCCCCCTCCCCTCCCCCCTCCCCCCTCTGTCTCCCCCTCCCCTCCC CCCCCTCCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCCCCTCTCTCCC CCTCCCCTCCCCCCTCTCTCCCCGTCCCCTCCCCCCTCTCTCCCCCTCCC CCTCCCCCCTCTCTCCCTCCCCCCTCTCTCCCCTCCCCCCTCTCTCCCCT CCCCCTCCTTCCCTCTCCCTCTCCCCTCCCCTTCCTTCCCTCTCCCCCTC CCCCTCCTTCCCTCTCCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCT TCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCAT CCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCT CCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCT CCTTCCCTCTCTCTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(647): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCC TCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	370	0.0027	654	c.-27 others(665): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742428	G G	GCCATATC others(647): Show GCCATATCCACAACCATAGCCACAGCCAGTTCCATATCCAGAGCCGTATT GACAGCCAGAGCCACATCCACAGCCAGAGCCACATCCACAGCCAGAGCCA TATCCACAGCCATAGCCAGAGCCAGAGCCATATCCACAACCATAGCCAGA GCCAGAGCCATATCCACAGCCATAGCCACAGCCAGAGACATATCCACAGC CATAGCCAGAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCA TATCCATAACCATAGCCACAGCCAGTTCCATATCCAGAGCTGTATTGACA GCCAGAGCCATAGCCACAGCCAGAGCCATATCCACAACCATAGCCACAGC CAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCATATCCATAACCA TAGCCATAGCCAGTTCCATATCCAGAGCTGTATTGACAGCCAGAGCCATA TCCACAGCCAGAGCCATATCCACAACCATAGCCACAGCCAGAGCCATATC CAAAGCCATAGCCAGAGCCAGAGCCATATCCACAGCCATAGCCAGATCCA GAGCCATATCCACAGCTATAGCCAGAGCCAGAGCCATATCCACAGCCACA TCCACAGCCAGAGCCATATCCATAACCATAGCCACAGCCAGAGCCATATC CACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	380	0.0026	654	c.45 others(665): Show c.4522_*4523insTTGTGGATATGGCTCTGGCTGTGGCTATGGTTAT GGATATGGCTCTGGCTGTGGATGTGGCTGTGGATATGGCTCTGGCTCTGG CTATAGCTGTGGATATGGCTCTGGATCTGGCTATGGCTGTGGATATGGCT CTGGCTCTGGCTATGGCTTTGGATATGGCTCTGGCTGTGGCTATGGTTGT GGATATGGCTCTGGCTGTGGATATGGCTCTGGCTGTCAATACAGCTCTGG ATATGGAACTGGCTATGGCTATGGTTATGGATATGGCTCTGGCTCTGGCT ATGGCTGTGGATATGGCTCTGGCTGTGGCTATGGTTGTGGATATGGCTCT GGCTGTGGCTATGGCTCTGGCTGTCAATACAGCTCTGGATATGGAACTGG CTGTGGCTATGGTTATGGATATGGCTCTGGCTCTGGCTATGGCTGTGGAT ATGGCTCTGGCTCTGGCTATGGCTGTGGATATGTCTCTGGCTGTGGCTAT GGCTGTGGATATGGCTCTGGCTCTGGCTATGGTTGTGGATATGGCTCTGG CTCTGGCTATGGCTGTGGATATGGCTCTGGCTGTGGATGTGGCTCTGGCT GTGGATGTGGCTCTGGCTGTCAATACGGCTCTGGATATGGAACTGGCTGT GGCTATGGTTGTGGATATGG	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4365		chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742428	G G	GCCATATC others(647): Show GCCATATCCACAACCATAGCCACAGCCAGTTCCATATCCAGAGCCGTATT GACAGCCAGAGCCACATCCACAGCCAGAGCCACATCCACAGCCAGAGCCA TATCCACAGCCATAGCCAGAGCCAGAGCCATATCCACAACCATAGCCAGA GCCAGAGCCATATCCACAGCCATAGCCACAGCCAGAGACATATCCACAGC CATAGCCAGAGCCAGAGCCATATCCATAACCATAGCCACAGCCAGTTCCA TATCCAGAGCTGTATTGACAGCCAGAGCCATAGCCACAGCCAGAGCCATA TCCACAACCATAGCCACAGCCAGAGCCATATCCACAGCCATAGCCAGAGC CAGAGCCATATCCATAACCATAGCCATAGCCAGTTCCATATCCAGAGCTG TATTGACAGCCAGAGCCATATCCACAGCCAGAGCCATATCCACAACCATA GCCACAGCCAGAGCCATATCCATAACCATAGCCACAGCCAGAGCCATATC CAAAGCCATAGCCAGAGCCAGAGCCATATCCACAGCCATAGCCAGATCCA GAGCCATATCCACAGCTATAGCCAGAGCCAGAGCCATATCCACAGCCACA TCCACAGCCAGAGCCATATCCATAACCATAGCCACAGCCAGAGCCATATC CACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	380	0.0026	654	c.45 others(665): Show c.4522_*4523insTTGTGGATATGGCTCTGGCTGTGGCTATGGTTAT GGATATGGCTCTGGCTGTGGATGTGGCTGTGGATATGGCTCTGGCTCTGG CTATAGCTGTGGATATGGCTCTGGATCTGGCTATGGCTGTGGATATGGCT CTGGCTCTGGCTATGGCTTTGGATATGGCTCTGGCTGTGGCTATGGTTAT GGATATGGCTCTGGCTGTGGCTATGGTTGTGGATATGGCTCTGGCTGTGG ATATGGCTCTGGCTGTCAATACAGCTCTGGATATGGAACTGGCTATGGCT ATGGTTATGGATATGGCTCTGGCTCTGGCTATGGCTGTGGATATGGCTCT GGCTGTGGCTATGGTTGTGGATATGGCTCTGGCTGTGGCTATGGCTCTGG CTGTCAATACAGCTCTGGATATGGAACTGGCTGTGGCTATGGTTATGGAT ATGGCTCTGGCTCTGGCTATGGCTGTGGATATGTCTCTGGCTGTGGCTAT GGCTGTGGATATGGCTCTGGCTCTGGCTATGGTTGTGGATATGGCTCTGG CTCTGGCTATGGCTGTGGATATGGCTCTGGCTGTGGATGTGGCTCTGGCT GTGGATGTGGCTCTGGCTGTCAATACGGCTCTGGATATGGAACTGGCTGT GGCTATGGTTGTGGATATGG	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4365		chr21	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(647): Show ATATTTATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATATATTTTTATATATATTT ATATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATAT TTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAG TTATATATATAGTTATGTATAGTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATTTATATATATAGTT ATATATTTATATATATTTATATATATTTATATATATATTTATATATTTAT TTATATATATTTATATATGTATTTATATATATTTATATATATTTATATGT ATTTATATATATTTATATATATTTATATATATATATAAAAATATATTTAT ATATATAAATATAAATATTTATATATATTTATATATATTTATATATATAT TTATGTATATTTATATATATTTATATATATATTTATGTATATTTATATAT GTATT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	260	0.0039	654	c.125 others(671): Show c.125+9673_125+9674insTTATATATATTTATATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTT ATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTT ATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATTTATATATATAGTTATATATTTATATATATTTATATATATTTATAT ATATATTTATATATTTATTTATATATATTTATATATGTATTTATATATAT TTATATATATTTATATGTATTTATATATATTTATATATATTTATATATAT ATATAAAAATATATTTATATATATAAATATAAATATTTATATATATTTAT ATATATTTATATATATATTTATGTATATTTATATATATTTATATATATAT TTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(647): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT CTATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATATATAATTATATTATATAT TATATAATATATAATTATATTATATATTATAATACATTTAATATAATTAT ATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATA TAATATATTATATATAATTATATTATAACTTATTATATATAATTATATTA TAGATCATAATCTATAATATAATTATATATAATATGTTATAATATATAAT TATATTCTATATATAATTATATATAATATAATTATATTCTATATATAATA TAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	654	c.-32 others(665): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATATATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATATAATATAATTATAGATTATATAATATATAATATAATTAT AGATTATATAATATATAATATAATTATATATTATATAATATATAATATAA TTATATATTATATAATATGTTTAATATAATTATATATAATATAATTATAT TATATATTATATTATAATTATATAATATATAATATAATTATATATTATAT AATTATATTCTATATAGAATATAATTATATATTATATAATTATATTATAT ATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MED12L_chr3_151080664_151441653	151439555	A A	AGTGAGCC others(647): Show AGTGAGCCGAGATCACACCACTACACTCTAGTCTGGGTGACAAAAATGAA ACTGTTTTAGAAAAAAATAAATTTTACTTTGTTAGAATACCAACGCAAGG TTCCTTAGAAGGTTGTTGCAGCATCTGCCCTCTATGGGCAGATGCTGCAA CAACCTTCTAAGGAACCTTGCGTTGGTATTCTAACAAAGTAAAATTTATT TTTTTCTAAAACAGTTTCATTTTTGTCACCCAGACTAGAGTGTAGTGGTG TGATCTCGGCTCACTGCAACCCCAGCCTCCTGGGTTCAAGCGATTCTCAA GCCTTAGCCTCCCGAGTAGCTGGGATCACAGGCATGTGCCATCATGCCTC AGCTAATTTTTCGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCA GGCTAGTCTCAAACTCCTGCCCTCAAGTGATCTGCCCACATTGGCCTCCC AAAATGCTGGGATTACAGGTGTGAGCCAATGTGGGCAGATCACTTGAGGG CAGGAGTTTGAGACTAGCCTGGCCAACATGGCAAAACCCCATCTCTACTA AAAATACGAAAAATTAGCTGAGCATGATGGCACATGCCTGTGATCCCAGC TACTCGGGAGGCTAAGGCTTGAGAATCGCTTGAACCCAGGAGGCTGGGGT TGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	280	0.0036	654	c.67 others(665): Show c.6751_*6752insGTGAGCCGAGATCACACCACTACACTCTAGTCTG GGTGACAAAAATGAAACTGTTTTAGAAAAAAATAAATTTTACTTTGTTAG AATACCAACGCAAGGTTCCTTAGAAGGTTGTTGCAGCATCTGCCCTCTAT GGGCAGATGCTGCAACAACCTTCTAAGGAACCTTGCGTTGGTATTCTAAC AAAGTAAAATTTATTTTTTTCTAAAACAGTTTCATTTTTGTCACCCAGAC TAGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCCCAGCCTCCTGGGT TCAAGCGATTCTCAAGCCTTAGCCTCCCGAGTAGCTGGGATCACAGGCAT GTGCCATCATGCCTCAGCTAATTTTTCGTATTTTTAGTAGAGATGGGGTT TTGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGCCCTCAAGTGATCTGC CCACATTGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCAATGTGGG CAGATCACTTGAGGGCAGGAGTTTGAGACTAGCCTGGCCAACATGGCAAA ACCCCATCTCTACTAAAAATACGAAAAATTAGCTGAGCATGATGGCACAT GCCTGTGATCCCAGCTACTCGGGAGGCTAAGGCTTGAGAATCGCTTGAAC CCAGGAGGCTGGGGTTGCTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		2903		chr3	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(647): Show ACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACACCCC CGCCCCACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCAC ACACACACACCCCGCCCCACACACACACACACCCCCGCCCCACACACACA CACCCCCCGCCCCACACACACACACACCCCCCGCCCCACACACACACACA CCCCCGCCCCACACACACACACCCCGCCCCACACACACACACACCCCCGC CCCACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACA CACACACCCCGCCCCACACACACACACACCCCCGCCCCACACACACACAC CCCCCGCCCCACACACACACACACCCCCCGCCCCACACACACACACACCC CCGCCCCACACACACACACCCCGCCCCACACACACACACACCCCCGCCCC ACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACACAC ACACCCCGCCCCACACACACACACACCCCCGCCCCACACACACACACCCC CCGCCCCACACACACACACACCCCGCCCCACACACACACACCCCGCCCCA CACACACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACA CACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	399	0.0025	654	c.557 others(671): Show c.557-2656_557-2655insCGCCCCACACACACACACACCCCCGCCC CACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACACA CACACCCCGCCCCACACACACACACACCCCCGCCCCACACACACACACCC CCCGCCCCACACACACACACACCCCCCGCCCCACACACACACACACCCCC GCCCCACACACACACACCCCGCCCCACACACACACACACCCCCGCCCCAC ACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACACACAC ACCCCGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCCC GCCCCACACACACACACACCCCCCGCCCCACACACACACACACCCCCGCC CCACACACACACACCCCGCCCCACACACACACACACCCCCGCCCCACACA CACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACC CCGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCCCGCC CCACACACACACACACCCCGCCCCACACACACACACCCCGCCCCACACAC ACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACAC CCCCCGCCCCACACACACACACCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGGGGGT others(647): Show GTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGAT GGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGG TGGTGATGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGT GGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGA TGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTG ATGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGT GGTGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19000.hp1 NA18951.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0007 a0001c0001t0007 a0001c0002t0007	a0001c0001t0007g0185 a0001c0002t0007g0083 a0001c0001t0007g0185 a0001c0002t0007g0083	2	250	0.0080	654	c.748 others(671): Show c.748+1803_748+1804insATGGTGGTGATGGTGATGGAGGTGGCAG TGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTG GTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGT GATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGG TGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTG ATGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTAATGGAGGTGGTGGT GGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATG GTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGA GGTGGTGGTGGTGATGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGG TGGTGATGGAGGTGGTGATGGGGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500184	A A	ATGATGGT others(647): Show ATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGT GATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGG AGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGG TGATGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGAT GGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGG TGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGAG GGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGGAGGTGATGGAGGTGG TGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGCGGTGATGGCGATGGAGGTGGTAGTGGTGGTGAT GAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp2 HG03471.hp1 others(1): Show HG03041.hp2 HG03130.hp2 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0034 a0001c0006t0005g0035 a0001c0006t0005g0036 others(1): Show a0001c0006t0005g0034 a0001c0006t0005g0035 a0001c0006t0005g0036 a0001c0006t0005g0038	4	250	0.0160	654	c.748 others(671): Show c.748+1836_748+1837insATGGTGGTGATGGTGATGGAGGTGGCGG TGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGATGGTGGTGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGG TGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTG GTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGT GATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGG TGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGGAGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGT GATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGATGGCGATGG AGGTGGTAGTGGTGGTGATGAAGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(647): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTACTCCCCT CCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTC CTCCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	140	0.0071	654	c.114 others(673): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTACTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCT CCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(647): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTC CTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG02523.hp1 others(3): Show HG00673.hp1 HG00735.hp1 HG02523.hp1 HG03688.hp1 HG03688.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0043 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0082	6	140	0.0429	654	c.114 others(673): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCT CCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(647): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCC CTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTC CTCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	140	0.0071	654	c.114 others(673): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTC CCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCT CCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189580	T T	TTTTATAT others(647): Show TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTT ATTTTATATATATTTTATATATATTTTATATATATAAAATCTTTATATAT ATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTT ATATATATTTTATATATATAAAATCTTTATATATATTTTATATATATAAA ATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATATATAT TTTATATATATAAAATCTTACTTTATATATATTTTATATATATATAATAT CTTAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG02897.hp2 HG02486.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049	3	330	0.0091	654	c.-5+ others(669): Show c.-5+3017_-5+3018insGTAAGATATTATATATATATAAAATATATA TAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATAT ATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAA GATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAATATA TATAAAGATTTTATATATATAAAATATATATAAAGATTTTATATATATAA AATATATATAAAATATATATAAAATAAGATTTTATATATAAAATATATAT AAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGAT TTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAT ATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTA TATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATAT AAAATAAGATTTTATATATATAAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(647): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGG AGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGA GGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGGAGGAGGAGGAGGGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGA GAGTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAG GTTGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGG TGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAG AGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTG GAGGGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGG AGGGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	196	0.0051	654	c.321 others(673): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCTCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCC TCCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCT CCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGC CCTCCACCCTCCCTCCCCACTTTCCCCCCCTCCACCCTCCCTGCCCTCCC CACTCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCT CCCCACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCC CCTCCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(647): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATAGT TTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTAT ATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAG TTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATAT AGTTTATGTAGTTTTAAACTAGTTTATATTTTTTATATAGTTTAAACTAT ATAGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 NA19063.hp1 HG00544.hp2 HG00558.hp2 NA19063.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0223 a0001c0005t0001g0224 a0001c0005t0001g0227 a0001c0005t0001g0223 a0001c0005t0001g0224 a0001c0005t0001g0227	3	244	0.0123	654	c.342 others(673): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACA TAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAA ACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTT AAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAG TTTTAAACTATATAAACTATATAGTTTAAACTATATAAACTATATAGTTT AAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGT TTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(647): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCACCCTCCC CTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCTTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0244 a0001c0001t0018g0244	1	326	0.0031	654	c.433 others(671): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGAGGGAAGGGG AAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGGAGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGTGGGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841586	C C	CCGCGAGC others(647): Show CCGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGG TCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACC ACGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCACGGAGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCT GACCACAGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGAGC ATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCC GCGAGCAGGTCCTCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCC TCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACA CCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACC ACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTC ACACG	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18973.hp2 NA18980.hp2 others(1): Show HG02155.hp1 NA18973.hp2 NA18980.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0122 a0001c0001t0001g0124 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0154	4	242	0.0165	654	c.361 others(673): Show c.361-15509_361-15508insCGTGTGAGATGCGCCGTGGTCGGGGG GACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCC CGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATG CGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGG GGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCCCGTGGGTGTGAG ATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGT CAGGGGGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGGACC TGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTTGCCCGT GTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATG CGCCGTGGTCAGGGGGGACCTGCTCGCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PCDH15_chr10_53797771_54806231	54332312	A A	AATATAAT others(647): Show AATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTATATATTATTATA TATAATATAATATAATCTATATTATATATTATTATATATAATATAATATA ATCTATATTATATATTATTATATATAATATAATATAATCTATATTATATA TTATTATATATAATATAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATAATATAATCTATATTATATATTATTA TATATAATATAATATAATCTATATTATATATTATTATATATAATATAATA TAATCTATATTATATATTATTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATATAATCTATATTATATATTATTATATATA ATATAATATAATCTATATTATATTATATATAATATAATATAATCTATATT ATATATTATTATATATAATATAATCTATATTATATATTATTATATATAAT ATAATCTATATTATATATTATTATATATAATATAATCTATATTATATATT ATTAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	102	0.0098	654	c.595 others(671): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATATAATATAGATTATATTATATTATATATAATAATATATAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATATTATATTATATATAATAATAT ATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTAT ATTATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATATATAATATAGATTATATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATAATATATAATATAGATTATATTATA TTATATATAATAATATATAATATAGATTATATTATATTATATATAATAAT ATATAATATAGATTATATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATAATATATAATATAGATTATATTATATTATAT ATAATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332312	A A	AATATAAT others(647): Show AATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTATATATTATTATA TATAATATAATATAATCTATATTATATATTATTATATATAATATAATATA ATCTATATTATATATTATTATATATAATATAATATAATCTATATTATATA TTATTATATATAATATAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATAATATAATCTATATTATATATTATTA TATATAATATAATATAATCTATATTATATATTATTATATATAATATAATA TAATCTATATTATATATTATTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATATAATCTATATTATATATTATTATATATA ATATAATATAATCTATATTATATTATATATAATATAATATAATCTATATT ATATATTATTATATATAATATAATCTATATTATATATTATTATATATAAT ATAATCTATATTATATATTATTATATATAATATAATCTATATTATATATT ATTAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	94	0.0106	654	c.595 others(671): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATATAATATAGATTATATTATATTATATATAATAATATATAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATATTATATTATATATAATAATAT ATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTAT ATTATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATATATAATATAGATTATATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATAATATATAATATAGATTATATTATA TTATATATAATAATATATAATATAGATTATATTATATTATATATAATAAT ATATAATATAGATTATATTATATTATATATAATAATATATAATATAGATT ATATTATATTATATATAATAATATATAATATAGATTATATTATATTATAT ATAATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(647): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCACTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTCC TCCTCCTCTTCCTCCTCCTTCTCTTATTCTCCCCTCCTCCTCTTCCTCCT CCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCC TTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCTCC TTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTCC TTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCCT TCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCTTC TCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTTCCT CCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0062 a0001c0001t0059g0062	1	218	0.0046	654	c.-50 others(665): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGA AGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGA AGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAGA GAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGGGG AGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAGG AAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGAA AAGGAGTGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGAA AAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGA GAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGG GAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(647): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTCC TCCTCCTCTTCCTCCTCCTTCTCTTATTCTCCCCTCCTCCTCTTCCTCCT CCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCC TTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCTCC TTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTCC TTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCCT TCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCTTC TCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTTCCT CCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0088 a0002c0005t0088	a0002c0005t0088g0073 a0002c0005t0088g0073	1	218	0.0046	654	c.-50 others(665): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGA AGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGA AGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAGA GAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGGGG AGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAGG AAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGAA AAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGAA AAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGA GAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGG GAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(647): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTCC TCCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCTCC TCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTC CTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCTC CTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTC CTTTTCCTCCTCCTCCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCCTT CCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCTTCT CCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCCTCTTCCT CCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0018 a0001c0002t0070g0018	1	218	0.0046	654	c.-50 others(665): Show c.-5005_-5004insAGGGGAGGAAGAGGGAGGAGGGGAGGAGGAGGAG GAAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGA AGGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGA AGAAAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAA GAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGAA GGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGAA GGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAAGA GAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGGGG AGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAGG AAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGAA AAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGAA AAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGA GAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGG GAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(647): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCTCCTCCTTCTCA TTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTC TTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTC TTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTC CTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTTC CTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTCCT CCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCTCCT CCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCC TTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCTCC TTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTCC TTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCCT TCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCTTC TCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTTCCT CCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	218	0.0046	654	c.-50 others(665): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGA AGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGA AGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAAG AGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGGG GAGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAG GAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGA AAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGA AAAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGG AGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGAGGAAGAGGAGGAGGG GAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(647): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCATCACCATCACCACCATCTCACCATCACCATCACCACC ATCATCACCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCAC CATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCA CCAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCACC ATCAACACCACCATCACCACCACCATCATCACCACCACCACCATCACCAC CATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0014 a0014	a0014c0064 a0014c0064	a0014c0064t0022 a0014c0064t0022	a0014c0064t0022g0187 a0014c0064t0022g0187	1	322	0.0031	654	c.48 others(665): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGGT GGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATG GTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGTGAT GGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGG TGAGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGT GATGGTGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGT GATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGG TGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTG ATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGT GATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGT GATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGT GGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGA TGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(647): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCATCACCATCACCACCATCTCACCATCACCATCACCACC ATCATCACCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCAC CATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCA CCAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCATC AACACCACCATCACCACCACCATCATCATCACCACCACCACCATCACCAC CATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0029 a0004c0007t0029	a0004c0007t0029g0312 a0004c0007t0029g0312	1	322	0.0031	654	c.48 others(665): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATG GTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGTGAT GGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGG TGAGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGT GATGGTGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGT GATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGG TGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTG ATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGT GATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGT GATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGT GGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGA TGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PRDM16_chr1_3064203_3443621	3181333	A A	AGCAGTCT others(647): Show AGCAGTCTTACACACGGTCTTACACACACGGTCTTACACACGCAGTCTTA CGGTCTTACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACA CGCAGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCT TACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACG CATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCT TACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTA CACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTA CACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACA CGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTA CACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCT TACACATGCAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACGCG GCCTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACG CGGTCTTACGGTCTTACACACGCAGTCTTATGGTCTTACACATGGTCTTA CACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01070.hp1 HG01106.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0050 a0002c0003t0006 a0001c0002t0050 a0002c0003t0006	a0001c0002t0050g0017 a0002c0003t0006g0066 a0001c0002t0050g0017 a0002c0003t0006g0066	2	210	0.0095	654	c.38- others(669): Show c.38-4766_38-4765insACGGTCTTACACACGCAGTCTTACGGTCTT ACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACACGCAGTC TTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCTTACACAA GCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACGCATGGTC TTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTACACACGG TCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTACACATGC AGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACGCGCAG TCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTACACACGG TCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCTTACACAT GCAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACGCGGCCTTAC ACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCGGTCTT ACGGTCTTACACACGCAGTCTTATGGTCTTACACATGGTCTTACACACGC AGTCTTACACACGGTCTTACACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(647): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCA GACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCTGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	252	0.0040	654	c.139 others(673): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(647): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCA GACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0120 a0001c0001t0050g0120	1	252	0.0040	654	c.139 others(673): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(647): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	252	0.0040	654	c.139 others(673): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)