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
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(296): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCGCCGC AGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCTCCG CCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCC GCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	2	348	0.0058	303	c.519 others(320): Show c.519+1004_519+1005insGTGCGGCGGGGAGGCTGCGGCGGAGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCT GCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930757	G G	GGGGTTAG others(296): Show GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGG TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	303	c.48 others(314): Show c.4833_*4834insTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCAGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4612		chr11	TogoVar
TPO_chr2_1408463_1548673	1422296	C C	CGCAGGCG others(296): Show CGCAGGCGCCTCTCCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGA CCTCGTGCAGGTGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGG ACCGACCTCGTGCAGACGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCT CCTGGACAGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGC GCCGCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTG CAGGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGACCGACC TCGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00544.hp2 HG00597.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0023 a0001c0001 a0012c0023	a0001c0001t0002 a0012c0023t0001 a0001c0001t0002 a0012c0023t0001	a0001c0001t0002g0014 a0012c0023t0001g0015 a0001c0001t0002g0014 a0012c0023t0001g0015	2	130	0.0154	303	c.95- others(316): Show c.95-730_95-729insCGACCTCGTGCAGGCGCCGCGCTGGACTGACC TCGTGCAGGTGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGAC CGACCTCGTGCAGACGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCC TGGACAGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGC CGCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCA GGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGACCGACCTC GTGCAGGCGCCTCTCCTGGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(296): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGAC CCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACA CACA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0066 a0001c0001t0002g0067	2	224	0.0089	303	c.225 others(322): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTTAGGACGGTG TGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTA CGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870568	C C	CCCCACAC others(296): Show CCCCACACACACCACACCCCACACACACCACACACCCCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACCCCATACACACCACA CACCCCACACACACCACACACCCCACACACACCACACCCCATACACACCA CACCCCCCACACACCACACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCATACACACCA CACACCCCACACACCACACACACACATCACATACCACACACACATCACAT ACCA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	338	0.0030	303	c.35 others(322): Show c.35+21836_*35+21837insCCACACACACCACACCCCACACACAC CACACACCCCCCACACACACCACACCCCATACACACCACACCCCACACAC ACCACACCCCATACACACCACACACCCCACACACACCACACACCCCACAC ACACCACACCCCATACACACCACACCCCCCACACACCACACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCATACACACCACACACCCCACACACCACACACACACATC ACATACCACACACACATCACATACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530454	A A	ATAATATT others(296): Show ATAATATTATATATAATAATATAATATATATTATTATATAATATTATATA TAATAATATAATATATAATTATATAATATTATATATAATAATATAATATA TATTATTATATATTATTATATATAATAATATAATATATATTATTATATAT TATTATATATAATATAATATATATTATTATATATTATTATATATAATATA ATATATATTATTATATATTATTATATATAATATAATATATATTATTATAT ATTATTATATATAATATAATATATATTATTATATATTATTATATATAATA ATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	238	0.0042	303	c.392 others(320): Show c.392+6264_392+6265insATATTATTATATATAATAATATATAATA ATATATATTATATTATATATAATAATATATAATAATATATATTATATTAT ATATAATAATATATAATAATATATATTATATTATATATAATAATATATAA TAATATATATTATATTATATATAATAATATATAATAATATATATTATATT ATTATATATAATAATATATAATAATATATATTATATTATTATATATAATA TTATATAATTATATATTATATTATTATATATAATATTATATAATAATATA TATTATATTATTATATATAATATTA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TYW1_chr7_66991833_67244514	67016239	G G	GGGGAGTT others(296): Show GGGGAGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCATGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0318 a0001c0002t0003g0318	1	364	0.0028	303	c.571 others(320): Show c.571-1601_571-1600insTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGGGAGTTTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UQCC1_chr20_35297578_35416973	35361225	T T	TAAAAAGT others(296): Show TAAAAAGTTTGAAAACCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02738.hp1 HG01175.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0150 a0001c0001t0002g0132 a0001c0001t0002g0150	2	256	0.0078	303	c.464 others(320): Show c.464+5331_464+5332insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTTTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGGTTTTCAAACTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	6/9			chr20	TogoVar
VGLL4_chr3_11551069_11648915	11604262	A A	ATGAATTC others(296): Show ATGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATC CTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCC CCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCC CACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTT CCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGT GAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCT ACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0244 a0001c0002t0002g0244	1	388	0.0026	303	c.83- others(318): Show c.83-2241_83-2240insGTGTAGGATTGGGGGTGGGGGGTGGGCGTG GGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGG GGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAG GATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCAC AGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAA GATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGG GGCGCTTTGGAAGATGGAATTCA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTG others(296): Show CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	326	0.0031	303	c.483 others(318): Show c.483+381_483+382insTGCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCT TCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZSWIM3_chr20_45852614_45884122	45866822	G G	GAAAGGAA others(296): Show GAAAGGAAAATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00735.hp1 others(45): Show HG00438.hp2 HG00544.hp2 HG00735.hp1 HG01106.hp1 HG01109.hp2 HG01891.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02165.hp2 HG02300.hp1 HG02602.hp2 HG02622.hp1 HG02723.hp2 HG02818.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 NA18522.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp1 NA18960.hp2 NA18968.hp2 NA18978.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA19010.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0002 a0001c0015t0002 a0001c0003t0002 a0001c0015t0002	a0001c0003t0002g0007 a0001c0003t0002g0012 a0001c0003t0002g0031 others(36): Show a0001c0003t0002g0007 a0001c0003t0002g0012 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0175 a0001c0015t0002g0174	48	386	0.1244	303	c.155 others(320): Show c.155+8854_155+8855insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAGGAAAATGC	ZSWIM3	ENSG00000132801.7	transcript	ENST00000255152.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr20	TogoVar
ABCA7_chr19_1035107_1070572	1049592	G G	GCCCCCCC others(297): Show GCCCCCCCACCACTCCCTCCCGTGAACCCCCCACCACTCCCTCCCCGTGA GCCCCCCCACCACTCCCTCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG AACCCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCCCCGTGA GCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGT GAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCC GTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCACCACTCCCTCCCTG TGAGC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0012 a0002c0011t0001g0012	1	30	0.0333	304	c.255 others(321): Show c.2552+161_2552+162insCACCACTCCCTCCCGTGAACCCCCCACC ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCGTGAGCCCCCCCAC CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCACC ACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGA CCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCC CACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCC ACCACTCCCTCCCTGTGAGCCCCCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABR_chr17_998519_1184981	1143066	G G	GCAGCTCG others(297): Show GCAGCTCGCTCCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCATTCCTG GGGGACAGCTCGCTCCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCATT CCTGGGGGACAGCTCGCTCCTGGGGGACAGCTCGCTCCTGGGGACAGCTC GCTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCTCGCTCCTGGGGGACA GCTCGCTCCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCATTCCTGGGG GACAGCTCGCTCCTGGGGGACAGCTCGCTCCTGGGGGACAGCTCATTCCT GGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0102 a0001c0009t0018g0102	1	337	0.0030	304	c.62- others(321): Show c.62-17700_62-17699insTCCCCAGGAATGAGCTGTCCCCCAGGAG CGAGCTGTCCCCCAGGAGCGAGCTGTCCCCCAGGAATGAGCTGTCCCCCA GGAGCGAGCTGCCCCCCAGGAGCGAGCTGTCCCCCAGGAGCGAGCTGCCC CCCAGGAGCGAGCTGTCCCCCAGGAGCGAGCTGTCCCCAGGAGCGAGCTG TCCCCCAGGAGCGAGCTGTCCCCCAGGAATGAGCTGTCCCCCAGGAGCGA GCTGCCCCCCAGGAGCGAGCTGTCCCCCAGGAATGAGCTGTCCCCCAGGA GCGAGCTGCCCCCCAGGAGCGAGCTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACVR2A_chr2_147840029_147935822	147892494	A A	AAACTTTT others(297): Show AAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(59): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01256.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02109.hp1 HG02273.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02895.hp1 HG03017.hp2 HG03139.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03927.hp2 HG04115.hp1 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18988.hp1 NA18989.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 others(5): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0023 a0001c0002t0027 a0001c0005t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0008 others(59): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0006g0004 a0001c0002t0006g0005 a0001c0002t0006g0082 a0001c0002t0006g0083 a0001c0002t0006g0091 a0001c0002t0006g0176 a0001c0002t0006g0177 a0001c0002t0012g0007 a0001c0002t0013g0007 a0001c0002t0014g0178 a0001c0002t0023g0113 a0001c0002t0027g0039 a0001c0005t0001g0008	62	338	0.1834	304	c.56- others(319): Show c.56-3798_56-3797insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCAACTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147892503	T T	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAACT TTTTA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18986.hp2 NA18994.hp2 others(2): Show NA18944.hp2 NA18986.hp2 NA18994.hp2 NA18999.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0136 others(2): Show a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0145 a0001c0002t0006g0021	5	338	0.0148	304	c.56- others(319): Show c.56-3798_56-3797insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCAACTTTTTA	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10			chr2	TogoVar
ACYP2_chr2_53966113_54310300	54230719	C C	CAAACTCC others(297): Show CAAACTCCACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCG GGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	272	0.0037	304	c.405 others(323): Show c.405-73958_405-73957insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCG TCTCAAAAAAAAAAAAAAAACTCCACCA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100058248	T T	TATCCCGG others(297): Show TATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACCCTCCTATCCCGGC TCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACAC CCCTATCCCGGCTCTAACCGTCCTATCCCGGCTCTAACACCCCTATCCCG GCTCTAACCCTCCTATCCCGGCTCTTAACACCCCATATCCCGGCTCTAAC CCTCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCC CGGCTCTTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTA ACACC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp1 HG02897.hp1 others(6): Show HG02559.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0005 a0001c0010 a0001c0043 others(4): Show a0001c0005 a0001c0010 a0001c0043 a0001c0046 a0002c0004 a0002c0029 a0011c0053	a0001c0005t0012 a0001c0010t0020 a0001c0043t0052 others(4): Show a0001c0005t0012 a0001c0010t0020 a0001c0043t0052 a0001c0046t0008 a0002c0004t0017 a0002c0029t0025 a0011c0053t0001	a0001c0005t0012g0211 a0001c0010t0020g0004 a0001c0010t0020g0018 others(6): Show a0001c0005t0012g0211 a0001c0010t0020g0004 a0001c0010t0020g0018 a0001c0043t0052g0124 a0001c0046t0008g0112 a0002c0004t0017g0128 a0002c0004t0017g0129 a0002c0029t0025g0212 a0011c0053t0001g0177	9	228	0.0395	304	c.213 others(323): Show c.2138-4195_2138-4194insGGTGTTAAGAGCCGGGATAGGAGGGT TAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGG GATAGGGGTGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATATGGGGT GTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCC GGGATAGGACGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGG TGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAG CCGGGATAGGGGGTGTTAGAGCCGGGAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100314058	C C	CCACCCCA others(297): Show CCACCCCAAACGTCACCATGAAGAAACGTCAGACAAAACCACCCCAAACG TCACCATGAAGAAACGTCAGACAAAACCATCCCAAACGTCACCATGAAGA AACGTCAGACAAAACCACCCCAAACGTCACCATGAAGAAACGTCAGACAA AACCACCCCAAACGTCACCATGAAGAAACGTCAGACAAAACCACCCCAAA CGTCACCATGAAGAAACGTCAGACAAAACCACCCCAAACGTCACCATGAA GAAACGTCAGACAAAACCACCCCAAACGTCACCATGAAGAAACGTCAGAC AAAAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0202 a0001c0007t0006g0202	1	228	0.0044	304	c.616 others(323): Show c.616+16830_616+16831insATTTTGTCTGACGTTTCTTCATGGTG ACGTTTGGGGTGGTTTTGTCTGACGTTTCTTCATGGTGACGTTTGGGGTG GTTTTGTCTGACGTTTCTTCATGGTGACGTTTGGGGTGGTTTTGTCTGAC GTTTCTTCATGGTGACGTTTGGGGTGGTTTTGTCTGACGTTTCTTCATGG TGACGTTTGGGGTGGTTTTGTCTGACGTTTCTTCATGGTGACGTTTGGGA TGGTTTTGTCTGACGTTTCTTCATGGTGACGTTTGGGGTGGTTTTGTCTG ACGTTTCTTCATGGTGACGTTTGGGGTG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGAGGA others(297): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGAAGGGGAGGGGGAGGAGGGGGGAGGGGGGGAGGA GGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGGAGGAGGGGA CGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGG GAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	352	0.0028	304	c.51 others(315): Show c.5172_*5173insCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCT CCCCTCCTCCCTCCTCCCCCGTCCCCTCCTCCCCCGCCCTCCCCTCCTCC CCCCTCCCCCTCCCCTTCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTC CCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCC TCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCCTCCCCC CTCCCCTCCTCCCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTC CTCCCTCTTCCCCTCCTCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADARB1_chr21_45069580_45231560	45156122	T T	TCCACCCA others(297): Show TCCACCCATCATCACCTATCATCCATCATCCATTCATCCACCCATCCATC CACCTACCCATCATCACCCATCATCGTCATCCATCCATCCATCCACCCAC CCACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATCC ACCCATCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCAT CACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCAT CCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCCA TCCAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0081	a0001c0002t0081g0085 a0001c0002t0081g0085	1	350	0.0029	304	c.-47 others(323): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCGTCATCCATCCATCCATCCACCCACCCACCCACCCATCATC ACCCATCACCCATCATCTATCTATCCATCCATCCACCCATCCATCATTAC CCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACCC ACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCAT CTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCAT CACCTATCATCCATCATCCATTCATCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1220246	G G	GTGATGGT others(297): Show GTGATGGTGGTGGTGATGGATGATGGTGATGGTGGTGATGATGGTGATGA TGATGGTAATGGTGATGGTGATGATGGTGGTGATGATGGTAATGGTGATG GTGGTGGTGATGATGGTGATGGTGATGATGGTGGTAATGGTGATGGTGGT GGTGGTGATGATGGTGATGATGGTGAAGATAATGATGGCAATGGTGATGA TGGTGATGGTAATGATGGTGGTGATGATGGTGGTGATGATGATGATGGTA ATGGTGGTGATGATGGTGATGGTGATGATGGTGGTGATAATGGTGGTGGT GGTGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	106	0.0094	304	c.151 others(323): Show c.1514-3128_1514-3127insTCACCACCACCACCATTATCACCACC ATCATCACCATCACCATCATCACCACCATTACCATCATCATCATCACCAC CATCATCACCACCATCATTACCATCACCATCATCACCATTGCCATCATTA TCTTCACCATCATCACCATCATCACCACCACCACCATCACCATTACCACC ATCATCACCATCACCATCATCACCACCACCATCACCATTACCATCATCAC CACCATCATCACCATCACCATTACCATCATCATCACCATCATCACCACCA TCACCATCATCCATCACCACCACCATCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	6/9			chr10	TogoVar
ADCY4_chr14_24313359_24340071	24325222	G G	GCTTTGGG others(297): Show GCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAG GGCCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02055.hp2 HG02109.hp1 others(13): Show HG01361.hp2 HG02055.hp2 HG02109.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03540.hp1 NA18990.hp1 NA19009.hp1 NA19030.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0004	a0001c0001t0001g0180 a0001c0001t0001g0247 a0001c0001t0003g0157 others(12): Show a0001c0001t0001g0180 a0001c0001t0001g0247 a0001c0001t0003g0157 a0001c0001t0004g0053 a0001c0001t0004g0256 a0001c0001t0004g0262 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0270 a0001c0001t0004g0276 a0001c0001t0006g0310 a0001c0001t0006g0312 a0001c0003t0004g0298 a0001c0003t0004g0299 a0001c0003t0004g0302	16	438	0.0365	304	c.182 others(321): Show c.1823+154_1823+155insTGGCCCTTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG TGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAG	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	14/24			chr14	TogoVar
ADCY4_chr14_24313359_24340071	24325222	G G	GCTTTGGG others(297): Show GCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAAG GGCCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0306 a0001c0003t0004g0306	1	438	0.0023	304	c.182 others(321): Show c.1823+154_1823+155insTGGCCCTTATCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG TGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAG	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	14/24			chr14	TogoVar
AFF2_chrX_148495617_149005663	148581390	A A	ATACGTGT others(297): Show ATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTAT ACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTCTACGTGTACACACATATACACGTATAC GTCTACGTGTACACACATATACACGTATACGTCTACGTGTACACACATAT ACACG	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18961.hp1 HG01943.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0073 a0001c0001t0051 a0001c0001t0073	a0001c0001t0051g0069 a0001c0001t0073g0074 a0001c0001t0051g0069 a0001c0001t0073g0074	2	169	0.0118	304	c.48- others(321): Show c.48-70607_48-70606insCGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTATACGTGTACACACATATACACGTATACGTCTACGTGTA CACACATATACACGTATACGTCTACGTGTACACACATATACACGTATACG TCTACGTGTACACACATATACACGTA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15530044	G G	GATATTCT others(297): Show GATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATA TTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTCT ATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATA TTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATA GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	236	0.0042	304	c.409 others(323): Show c.409+14727_409+14728insATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTAT ATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAATACGTAT ATAGAATATATGGAAATACGTATATAGAATATATGGAAATACGTATATAG AATATATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	394247	C C	CCTCCCCT others(297): Show CCTCCCCTTTCCTCCCTGTGTGCTGGAACCCTCTTGTCTCTCCCCTTTCC TCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCT GGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTG TCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTT CCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTG CTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCT TGTCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0249 a0002c0002t0007g0249	1	268	0.0037	304	c.351 others(323): Show c.351+17558_351+17861dupACCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGA GCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT CTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCT CCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTG GAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGT CTCTCCCCTTTCCTCCCTGTGTGCTGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	394247	C C	CCTCCCCT others(297): Show CCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCC TCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCT GGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTG TCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTT CCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTG CTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCT TGTCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02257.hp1 others(22): Show HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0007 a0014 a0016	a0001c0001 a0004c0003 a0006c0006 others(3): Show a0001c0001 a0004c0003 a0006c0006 a0007c0007 a0014c0014 a0016c0012	a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 others(12): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0045 a0004c0003t0007 a0004c0003t0009 a0004c0003t0014 a0004c0003t0027 a0004c0003t0033 a0004c0003t0034 a0004c0003t0037 a0006c0006t0031 a0007c0007t0035 a0014c0014t0020 a0016c0012t0020	a0001c0001t0007g0032 a0001c0001t0007g0219 a0001c0001t0009g0030 others(22): Show a0001c0001t0007g0032 a0001c0001t0007g0219 a0001c0001t0009g0030 a0001c0001t0017g0034 a0001c0001t0045g0026 a0004c0003t0007g0230 a0004c0003t0007g0235 a0004c0003t0007g0237 a0004c0003t0007g0246 a0004c0003t0007g0266 a0004c0003t0009g0232 a0004c0003t0009g0245 a0004c0003t0009g0248 a0004c0003t0014g0220 a0004c0003t0014g0236 a0004c0003t0014g0240 a0004c0003t0014g0244 a0004c0003t0027g0092 a0004c0003t0033g0242 a0004c0003t0034g0229 a0004c0003t0037g0223 a0006c0006t0031g0226 a0007c0007t0035g0222 a0014c0014t0020g0035 a0016c0012t0020g0239	25	268	0.0933	304	c.351 others(323): Show c.351+17557_351+17558insGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGA GCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT CTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCT CCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTG GAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGT CTCTCCCCTTTCCTCCCTGTGTGCTGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALDOB_chr9_101415560_101440774	101419972	A A	AAGGTGTT others(297): Show AAGGTGTTACCTACCTGCTTTTAGGACAGCTTGGCACATAGTAGGAGATG AAGTGCTTGATGATTGACTGAAATGTACAAGGAGAAATGTACAAGACTAC ACCACGGGTGGCAGAGATATTGAACACAGCCTGTCACCTTGCCCTGTAAG ATCTCTGGCTGTGTATCCATCCTTGATTATAAATTCATGGTTAACTGATA AGAATCTGAGAGGTTTCTTTAGATACCTCTTAAAATATCTAAAGAATTCA GCGATGCTAAGTAGGATCTAGATAAAAACTATCTGGCAGAAAAGCTTTGT CTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0026	1	418	0.0024	304	c.18 others(315): Show c.1836_*1837insGTGAGACAAAGCTTTTCTGCCAGATAGTTTTTAT CTAGATCCTACTTAGCATCGCTGAATTCTTTAGATATTTTAAGAGGTATC TAAAGAAACCTCTCAGATTCTTATCAGTTAACCATGAATTTATAATCAAG GATGGATACACAGCCAGAGATCTTACAGGGCAAGGTGACAGGCTGTGTTC AATATCTCTGCCACCCGTGGTGTAGTCTTGTACATTTCTCCTTGTACATT TCAGTCAATCATCAAGCACTTCATCTCCTACTATGTGCCAAGCTGTCCTA AAAGCAGGTAGGTAACACCT	ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding		587		chr9	TogoVar
ANGPTL4_chr19_8359155_8379370	8363566	T T	TCTTTTCT others(297): Show TCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG TTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAG CTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGC CCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0019	1	408	0.0025	304	c.-75 others(313): Show c.-756_-755insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTC CGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGAGCCCGGC	ANGPTL4	ENSG00000167772.12	transcript	ENST00000301455.7	protein_coding		588		chr19	TogoVar
ANKLE2_chr12_132720503_132766832	132758990	G G	GGAGTGGC others(297): Show GGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCAGAGTG GCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCC GGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCAGGGCA CCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGGGGCACCCACGT GGCAGAGTGGATCACGCAGAGTGGCACCCCGGGGCACCCACGTGGCAGAG AGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATC ACGCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02922.hp2 HG02257.hp2 HG02280.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090	3	350	0.0086	304	c.181 others(321): Show c.181+2627_181+2628insTGCGTGATCCACTCTGCCACGTGGGTGC CCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGG GTGCCACTCTGCGTGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCAC TCTGCGTGATCCACTCTGCCACGTGGGTGCCCTGGGGTGCCACTCCGCAG CGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACTCTGCGTGATCCA CTCTGCCACGTGGGTGCCCCGGGGTGCCACTCTGCAGCGATCCACTCTGC CACGTGGGTGCCCCGGGGTGCCACTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(297): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18989.hp1 NA18978.hp1 NA18989.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0061 a0002c0001t0001g0068 a0002c0001t0001g0061 a0002c0001t0001g0068	2	370	0.0054	304	c.494 others(319): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ANXA2_chr15_60342151_60402986	60365044	A A	ATGGCAGT others(297): Show ATGGCAGTTGTATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCTC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0326 a0002c0002t0006g0326	1	334	0.0030	304	c.149 others(319): Show c.149-522_149-521insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAATACAACTGCCA	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(297): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACGTACATATTTATA CATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATA CGTACATATTTATACATATATATGTATAAATACGTACATATTTATACATA TATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTA CATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0052 a0001c0001t0111g0052	1	256	0.0039	304	c.39 others(313): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACGTATTAATACATATATGTATAAATACATACATAT TTATACATATATGTATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ARHGAP10_chr4_147727088_148077776	147920297	A A	ATCCCAGC others(297): Show ATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGACTCACTTGAACCCGTGGA TGTTGCAGTGAGCCGAGATTGCGCCACTTCACTCTAGCCTGGGTGACAAG AGCGAAATCTGTCTCAAGAAAAAAACAAAAAAAACAACAGGCCAGGCGTG GTGGCTCACACCCGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGGGGAT CACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTAAAAACACACACAAAAAATTAGCCGGGTATGGTGGGGGGCACC TGTAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	106	0.0094	304	c.122 others(323): Show c.1228+7189_1228+7190insCTCACTTGAACCCGTGGATGTTGCAG TGAGCCGAGATTGCGCCACTTCACTCTAGCCTGGGTGACAAGAGCGAAAT CTGTCTCAAGAAAAAAACAAAAAAAACAACAGGCCAGGCGTGGTGGCTCA CACCCGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGGGGATCACAAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTA AAAACACACACAAAAAATTAGCCGGGTATGGTGGGGGGCACCTGTAGTCC CAGCTGCTTGGGAGGCTGAGGCAGGAGA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147920297	A A	ATCCCAGC others(297): Show ATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGACTCACTTGAACCCGTGGA TGTTGCAGTGAGCCGAGATTGCGCCACTTCACTCTAGCCTGGGTGACAAG AGCGAAATCTGTCTCAAGAAAAAAACAAAAAAAACAACAGGCCAGGCGTG GTGGCTCACGCCCGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGGGGAT CACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTAAAAACACACACAAAAAATTAGCCGGGTATGGTGGGGGGCACC TGTAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02572.hp2 others(3): Show HG01884.hp1 HG02055.hp2 HG02572.hp2 HG02818.hp2 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0088 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0004t0001g0045 a0001c0004t0001g0105	6	106	0.0566	304	c.122 others(323): Show c.1228+7189_1228+7190insCTCACTTGAACCCGTGGATGTTGCAG TGAGCCGAGATTGCGCCACTTCACTCTAGCCTGGGTGACAAGAGCGAAAT CTGTCTCAAGAAAAAAACAAAAAAAACAACAGGCCAGGCGTGGTGGCTCA CGCCCGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGGGGATCACAAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTA AAAACACACACAAAAAATTAGCCGGGTATGGTGGGGGGCACCTGTAGTCC CAGCTGCTTGGGAGGCTGAGGCAGGAGA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147920297	A A	ATCCCAGC others(297): Show ATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGACTCACTTGAACCCGTGGA TGTTGCAGTGAGCCGAGATTGCGCCACTTCACTCTAGCCTGGGTGACAAG AGCGAAATCTGTCTCAAGAAAAAAACAAAAAAAACAACAGGCCAGGCGTG GTGGCTCACGCCCGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGGGGAT CACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTAAAAACACACACAAAAAATTAGCCGGGTGTGGTGGGGGGCACC TGTAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 NA21309.hp1 HG01884.hp2 HG02451.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 a0001c0001t0001 a0001c0002t0001 a0001c0011t0001	a0001c0001t0001g0093 a0001c0002t0001g0090 a0001c0011t0001g0092 a0001c0001t0001g0093 a0001c0002t0001g0090 a0001c0011t0001g0092	3	106	0.0283	304	c.122 others(323): Show c.1228+7189_1228+7190insCTCACTTGAACCCGTGGATGTTGCAG TGAGCCGAGATTGCGCCACTTCACTCTAGCCTGGGTGACAAGAGCGAAAT CTGTCTCAAGAAAAAAACAAAAAAAACAACAGGCCAGGCGTGGTGGCTCA CGCCCGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGGGGATCACAAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTA AAAACACACACAAAAAATTAGCCGGGTGTGGTGGGGGGCACCTGTAGTCC CAGCTGCTTGGGAGGCTGAGGCAGGAGA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147920297	A A	ATCCCAGC others(297): Show ATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGACTCACTTGAACCCGTGGA TGTTGCAGTGAGCCGAGATTGCGCCACTTCACTCTAGCCTGGGTGACAAG AGCGAAATCTGTCTCAAGAAAAAAACAGAAAAAACAACAGGCCAGGCGTG GTGGCTCACGCCCGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGGGGAT CACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTAAAAACACACACAAAAAATTAGCCGGGTATGGTGGGGGGCACC TGTAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp2 HG01071.hp1 others(32): Show HG00558.hp1 HG01070.hp2 HG01071.hp1 HG01891.hp1 HG02056.hp2 HG02080.hp2 HG02165.hp2 HG02258.hp2 HG02615.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA18983.hp2 NA18995.hp1 NA19043.hp2 NA19064.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0106 a0001c0001t0003g0087 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0029 a0001c0002t0001g0072 a0001c0004t0001g0102 a0001c0005t0001g0003 a0001c0006t0001g0040 a0001c0006t0001g0042 a0001c0006t0001g0071 a0001c0008t0001g0059 a0001c0008t0001g0060 a0001c0009t0001g0007 a0001c0009t0001g0008	35	106	0.3302	304	c.122 others(323): Show c.1228+7189_1228+7190insCTCACTTGAACCCGTGGATGTTGCAG TGAGCCGAGATTGCGCCACTTCACTCTAGCCTGGGTGACAAGAGCGAAAT CTGTCTCAAGAAAAAAACAGAAAAAACAACAGGCCAGGCGTGGTGGCTCA CGCCCGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGGGGATCACAAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTA AAAACACACACAAAAAATTAGCCGGGTATGGTGGGGGGCACCTGTAGTCC CAGCTGCTTGGGAGGCTGAGGCAGGAGA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP15_chr2_143124419_143773352	143620595	C C	CTGAACAC others(297): Show CTGAACACAGTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTT TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGTGT AGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	162	0.0062	304	c.100 others(323): Show c.1004-3522_1004-3521insTTTTTTTTTTTTTTTTTTTTTTGAGG CGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGAC TCACTGCAAGCTCCGCCTCCCGGGTTTACGCCATTCTCCTGCCTCAGCCT CCCGTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTT TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGTGAACACAGTGATTTT	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP24_chr4_85470150_86007666	85781574	T T	TAAAAAAA others(297): Show TAAAAAAATACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	108	0.0093	304	c.268 others(323): Show c.268+59612_268+59613insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAATAC	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(297): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCTCCCGCACCCCACCTGTTCACC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCTCTCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCTCTCGCACCCCACCTGTTTACTCTGCACCCCAGCTGTCC CCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCA CCTGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA20300.hp1 HG02895.hp1 HG02897.hp1 NA20300.hp1	a0001 a0001	a0001c0046 a0001c0047 a0001c0046 a0001c0047	a0001c0046t0001 a0001c0047t0009 a0001c0046t0001 a0001c0047t0009	a0001c0046t0001g0332 a0001c0046t0001g0333 a0001c0047t0009g0334 a0001c0046t0001g0332 a0001c0046t0001g0333 a0001c0047t0009g0334	3	363	0.0083	304	c.-48 others(319): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCTCCCGCAC CCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCTCTCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCTCTCGCACCCCACCTGTTTACTCTG CACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGT CCCCCCGCACTCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASMTL_chrX_1398139_1457909	1453738	T T	TGCCTGGT others(297): Show TGCCTGGTGGGAGGGGAGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGA GGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGA TGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCA CGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGG GAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGA GATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTC CACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	185	0.0054	304	c.-89 others(313): Show c.-899_-898insCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAG GCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACAC CCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCAC GCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACC AGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGAC ACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC ACTCCCCTCCCACCAGGC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		830		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1453754	A A	AGTGGAGA others(297): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG GGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATG GGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACG GGCCTGGTGGGAGGGGAGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGA GGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00408.hp1 HG00438.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0005 a0001c0008 a0003c0005	a0001c0008t0001 a0003c0005t0001 a0001c0008t0001 a0003c0005t0001	a0001c0008t0001g0045 a0003c0005t0001g0139 a0001c0008t0001g0045 a0003c0005t0001g0139	2	185	0.0108	304	c.-91 others(313): Show c.-915_-914insGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC ACTCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCA CCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGG ACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCT CCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCC CACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGT GGACACCCCCATCTCCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		846		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1453754	A A	AGTGGAGA others(297): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG GGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATG GGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACG GGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGA GGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0007 a0004c0006t0001g0007	1	185	0.0054	304	c.-91 others(313): Show c.-915_-914insGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC ACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCA CCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGG ACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCT CCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCC CACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGT GGACACCCCCATCTCCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		846		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1453754	A A	AGTGGAGA others(297): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG TGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATG GGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACG GGCCTGGTGGGAGGGGCGTGGAGATGGGTGTGTCCACGGGCCTGGTGGGA GGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02615.hp2 others(2): Show HG01884.hp2 HG02280.hp1 HG02615.hp2 NA18906.hp1 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0002 a0006c0016 a0007c0017 a0003c0002 a0006c0016 a0007c0017	a0003c0002t0001 a0006c0016t0001 a0007c0017t0001 a0003c0002t0001 a0006c0016t0001 a0007c0017t0001	a0003c0002t0001g0165 a0006c0016t0001g0166 a0006c0016t0001g0169 others(2): Show a0003c0002t0001g0165 a0006c0016t0001g0166 a0006c0016t0001g0169 a0007c0017t0001g0167 a0007c0017t0001g0168	5	185	0.0270	304	c.-91 others(313): Show c.-915_-914insGCCCCTCCCACCAGGCCCGTGGACACACCCATCTCC ACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCA CCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGG ACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCT CCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCC CACCAGGCCCGTGGACACACCCATCTCCACGCCCCTCCCACCAGGCCCGT GGACACCCCCATCTCCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		846		chrX	TogoVar
ATP10D_chr4_47480275_47598486	47494500	T T	TAAAGTTA others(297): Show TAAAGTTAGATTATCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18986.hp2 HG02647.hp2 NA18986.hp2	a0005 a0010 a0005 a0010	a0005c0014 a0010c0012 a0005c0014 a0010c0012	a0005c0014t0004 a0010c0012t0005 a0005c0014t0004 a0010c0012t0005	a0005c0014t0004g0064 a0010c0012t0005g0073 a0005c0014t0004g0064 a0010c0012t0005g0073	2	332	0.0060	304	c.-38 others(321): Show c.-38+8993_-38+8994insTCACGCCTGTAGTCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAGTTAGATTA	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(297): Show TCCCCACCTCCCCCCACCCCCCCCACCCCCCCCACCTCCCCCACCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0132 a0001c0004t0006g0132	1	254	0.0039	304	c.39+ others(321): Show c.39+32844_39+32845insACCCCCCCCACCCCCCCCACCTCCCCCA CCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACC CACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCC ACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCT ACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(297): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCTCCCCCCACCCC CACCCCCCACCTCCCCCCACCCCCCACCCCCCACCCCCACCCCCCACCCC CCACCCCCCACCTCCCCCCACCCCCCCCACCCCCACCCCCCACCCCCCAC CCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0051 a0001c0029t0051	a0001c0029t0051g0046 a0001c0029t0051g0046	1	254	0.0039	304	c.39+ others(321): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCTCCCC CCACCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCACCCCCACCCC CCACCCCCCACCCCCCACCTCCCCCCACCCCCCCCACCCCCACCCCCCAC CCCCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421112	G G	GTATATAT others(297): Show GTATATATATATATATATATATATATATATATATATATATAGTTTATATA TATATAGTTTATATATATATATACTATATATATAGTTTATATATAAACTA TATATAGTATATATATATACTATATATAGTATATATATATACTATATATA GTATATATATATACTATATATATAGTATATATATATACTATATATATAGT ATATATATATACTATATATAGTTTATATATATATACACTATATATAGTTT ATATATATATACACTATATATAGTTTATATATATATACACTATATATAGT TTATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	304	0.0033	304	c.331 others(323): Show c.3314-1146_3314-1145insTATAAACTATATATAGTGTATATATA TATAAACTATATATAGTGTATATATATATAAACTATATATAGTGTATATA TATATAAACTATATATAGTATATATATATACTATATATATAGTATATATA TATACTATATATATAGTATATATATATACTATATATAGTATATATATATA CTATATATAGTATATATATATACTATATATAGTTTATATATAAACTATAT ATATAGTATATATATATATAAACTATATATATATAAACTATATATATATA TATATATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421112	G G	GTATATAT others(297): Show GTATATATATATATATATATATATATATATATATATATATATAGTTTATA TATATATAGTTTATATATATATATACTATATATATAGTTTATATATAAAC TATATATAGTATATATATATACTATATATAGTATATATATATACTATATA TAGTATATATATATACTATATATATAGTATATATATATACTATATATATA GTATATATATATACTATATATAGTTTATATATATATACACTATATATAGT TTATATATATATACACTATATATAGTTTATATATATATACACTATATATA GTTTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0183 a0001c0001t0007g0183	1	304	0.0033	304	c.331 others(323): Show c.3314-1146_3314-1145insTAAACTATATATAGTGTATATATATA TAAACTATATATAGTGTATATATATATAAACTATATATAGTGTATATATA TATAAACTATATATAGTATATATATATACTATATATATAGTATATATATA TACTATATATATAGTATATATATATACTATATATAGTATATATATATACT ATATATAGTATATATATATACTATATATAGTTTATATATAAACTATATAT ATAGTATATATATATATAAACTATATATATATAAACTATATATATATATA TATATATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84464320	T T	TAAAGAGT others(297): Show TAAAGAGTAGGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0018 a0018	a0018c0071 a0018c0071	a0018c0071t0001 a0018c0071t0001	a0018c0071t0001g0167 a0018c0071t0001g0167	1	432	0.0023	304	c.58 others(313): Show c.588_*589insAAAGAGTAGGGCTGGGCATGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding		134		chr16	TogoVar

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Search Results (Total: 10000 hits)