Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(228): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATACATATATATATTATATATATATACAT ATATATATTATATATATATACATATATATATTATATATATATACATATAT ATATTATATATATATACATATATATATTATATATATATACATATATATAT TATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0137 a0001c0001t0013g0137	1	346	0.0029	235	c.497 others(252): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATACATATA TATATTATATATATATACATATATATATTATATATATATACATATATATA TTATATATATATACATATATATATTATATATATATACATATATATATTAT ATATATATACATATATATATTATATATATATACATATATATATTATATAT ATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(228): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATATACATATATATATTATATATATATAC ATATATATAATATATATATACATATATATATTATATATATATACATATAT ATATTATATATATATACATATATATATTATATATATATACATATATATAT TATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	346	0.0029	235	c.497 others(252): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATATACATA TATATATTATATATATATACATATATATAATATATATATACATATATATA TTATATATATATACATATATATATTATATATATATACATATATATATTAT ATATATATACATATATATATTATATATATATACATATATATATTATATAT ATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(228): Show TAATATACATATATATATATTATATATATACATATATATATTATATATAT ACATATATATATTATATATATATACATATATATATTATATATATATACAT ATATATATTATATATATATACATATATATATTATATATATATACATATAT ATATTATATATATATACATATATATATTATATATATATACATATATATAT TATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	346	0.0029	235	c.497 others(252): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATTATATATATACATATATATATTATATATATATACATATA TATATTATATATATATACATATATATATTATATATATATACATATATATA TTATATATATATACATATATATATTATATATATATACATATATATATTAT ATATATATACATATATATATTATATATATATACATATATATATTATATAT ATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTRT3_chr3_169761921_169774561	169770957	A A	AAAATTTA others(228): Show AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	235	c.-14 others(246): Show c.-1438_-1437insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT T	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1397		chr3	TogoVar
ADAMTS2_chr5_179105853_179350461	179134872	T T	TCCAGCCC others(228): Show TCCAGCCCCCAGCTCCGAGCCTCTAGCCCCCAGCTCCCGGCTCCAGTCCC CAGCTCCCGGCTCCAGCTCCAGCCCCCAGCTCCGAGCCTCTAGCCCCCAG CTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCTCCCAGCTCCCGGCTC CAGCCCCCAGCTCCCGGCTCCAGCTCCAGCTCCCGGCTCCAGCCCCCAGC TCCCGGCTCCAGCCCCCAGCTCCGAGCCTCTAGCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0056 a0002c0012t0001g0056	1	276	0.0036	235	c.208 others(254): Show c.2085+1036_2085+1037insGGGCTAGAGGCTCGGAGCTGGGGGCT GGAGCCGGGAGCTGGGGGCTGGAGCCGGGAGCTGGAGCTGGAGCCGGGAG CTGGGGGCTGGAGCCGGGAGCTGGGAGCTGGAGCCGGGAGCTGGGGGCTG GAGCCGGGAGCTGGGGGCTAGAGGCTCGGAGCTGGGGGCTGGAGCTGGAG CCGGGAGCTGGGGACTGGAGCCGGGAGCTGGGGGCTAGAGGCTCGGAGCT GGGGGCTGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179134887	C C	CGAGCCTC others(228): Show CGAGCCTCTAGCCCCCAGCTCCCGGCTCCAGTCCCCAGCTCCCAGCTCCA GCTCCAGCCCCCAGCTCCCGGCTCCAGCCCCCAGCTCCGAGCCTCTAGCC CCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCTCCCAGCTCCC GGCTCCAGCCCCCAGCTCCCGGCTCCAGCTCCAGCTCCCGGCTCCAGCCC CCAGCTCCCGGCTCCAGCCCCCAGCTCCGAGCCTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00673.hp2 others(9): Show HG00423.hp1 HG00639.hp2 HG00673.hp2 HG01257.hp2 HG01261.hp1 HG01934.hp1 HG01978.hp2 HG02129.hp2 HG03239.hp2 NA18977.hp1 NA18983.hp2 NA19005.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0018 a0001c0022 a0002c0007 others(5): Show a0001c0018 a0001c0022 a0002c0007 a0002c0023 a0003c0096 a0004c0016 a0004c0101 a0006c0044	a0001c0018t0002 a0001c0022t0002 a0002c0007t0002 others(5): Show a0001c0018t0002 a0001c0022t0002 a0002c0007t0002 a0002c0023t0002 a0003c0096t0002 a0004c0016t0002 a0004c0101t0002 a0006c0044t0003	a0001c0018t0002g0161 a0001c0018t0002g0181 a0001c0022t0002g0102 others(9): Show a0001c0018t0002g0161 a0001c0018t0002g0181 a0001c0022t0002g0102 a0002c0007t0002g0013 a0002c0007t0002g0029 a0002c0007t0002g0082 a0002c0023t0002g0151 a0002c0023t0002g0159 a0003c0096t0002g0248 a0004c0016t0002g0230 a0004c0101t0002g0223 a0006c0044t0003g0165	12	276	0.0435	235	c.208 others(254): Show c.2085+1021_2085+1022insAGAGGCTCGGAGCTGGGGGCTGGAGC CGGGAGCTGGGGGCTGGAGCCGGGAGCTGGAGCTGGAGCCGGGAGCTGGG GGCTGGAGCCGGGAGCTGGGAGCTGGAGCCGGGAGCTGGGGGCTGGAGCC GGGAGCTGGGGGCTAGAGGCTCGGAGCTGGGGGCTGGAGCCGGGAGCTGG GGGCTGGAGCTGGAGCTGGGAGCTGGGGACTGGAGCCGGGAGCTGGGGGC TAGAGGCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179134887	C C	CGAGCCTC others(228): Show CGAGCCTCTAGCCCCCAGCTCCCGGCTCCAGTCCCCAGCTCCCGGCTCCA GCTCCAGCCCCCAGCTCCCGGCTCCAGCCCCCAGCTCCGAGCCTCTAGCC CCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCTCCCAGCTCCC GGCTCCAGCCCCCAGCTCCCGGCTCCAGCTCCAGCTCCCGGCTCCAGCCC CCAGCTCCCGGCTCCAGCCCCCAGCTCCGAGCCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02809.hp2 others(4): Show HG01891.hp2 HG02717.hp1 HG02809.hp2 HG02976.hp1 HG03225.hp1 HG03579.hp1 NA18906.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0014 a0001c0068 a0002c0012 others(2): Show a0001c0014 a0001c0068 a0002c0012 a0004c0039 a0010c0036	a0001c0014t0002 a0001c0014t0013 a0001c0068t0001 others(4): Show a0001c0014t0002 a0001c0014t0013 a0001c0068t0001 a0002c0012t0001 a0002c0012t0013 a0004c0039t0007 a0010c0036t0007	a0001c0014t0002g0131 a0001c0014t0013g0112 a0001c0068t0001g0023 others(4): Show a0001c0014t0002g0131 a0001c0014t0013g0112 a0001c0068t0001g0023 a0002c0012t0001g0060 a0002c0012t0013g0071 a0004c0039t0007g0208 a0010c0036t0007g0035	7	276	0.0254	235	c.208 others(254): Show c.2085+1021_2085+1022insAGAGGCTCGGAGCTGGGGGCTGGAGC CGGGAGCTGGGGGCTGGAGCCGGGAGCTGGAGCTGGAGCCGGGAGCTGGG GGCTGGAGCCGGGAGCTGGGAGCTGGAGCCGGGAGCTGGGGGCTGGAGCC GGGAGCTGGGGGCTAGAGGCTCGGAGCTGGGGGCTGGAGCCGGGAGCTGG GGGCTGGAGCTGGAGCCGGGAGCTGGGGACTGGAGCCGGGAGCTGGGGGC TAGAGGCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar
ADAP1_chr7_892900_959680	905411	G G	GGAGAAAG others(228): Show GGAGAAAGGGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGA GAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGA AAGGAAAAAGGAGAAAGGGAAAAGAGAAAGGGAAAGGAGAAAGGGAAAAG AGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAG AAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGGAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	14	0.0714	235	c.389 others(250): Show c.389-240_389-239insTTTCCCTTTCTCCTTTCCCTTTCTCCTTTC TCCTTTCTCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTC CTTTCTCTTTTCCCTTTCTCCTTTCCCTTTCTCTTTTCCCTTTCTCCTTT TTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCT CCTTTCTCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCCCT TTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(228): Show TTCTTTTCTTTTCTTTTCTTTTTAATGTTTTTTTTTATTATTATACTCTA AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	402	0.0025	235	c.12 others(246): Show c.1293_*1294insTCTTTTCTTTTCTTTTCTTTTTAATGTTTTTTTT TATTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG A	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(228): Show TTCTTTTCTTTTTTTTTTTTTTTAATGTTTTTTTTTATTATTATACTCTA AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCGACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0315 a0001c0003t0001g0315	1	402	0.0025	235	c.12 others(246): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTTTTAATGTTTTTTTT TATTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG A	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(228): Show TTCTTTTCTTTTTTTTTTTTTTTTAATGTTTTTTTTTATTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGG TATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02451.hp2 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0299 a0001c0003t0001g0302 a0001c0003t0001g0299 a0001c0003t0001g0302	2	402	0.0050	235	c.12 others(246): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTTTTTAATGTTTTTTT TTATTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG A	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(228): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC ACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCC TCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02132.hp2 HG02015.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0065 a0001c0001t0016g0066 a0001c0001t0016g0065 a0001c0001t0016g0066	2	268	0.0075	235	c.-36 others(246): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCC GCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATC TGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCA TCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCT T	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AK5_chr1_77277019_77564966	77367853	T T	TTATATGT others(228): Show TTATATGTTATATATATTATATATAATATATGTTATATATATTATATATT ATATGTTATATATATTATATATAATATGTTATATATATTATATATAACAT GTTATATATAATATATATGTTATATATAATATATGTTATATATAATATAT GTTATATATATTATATATAACATATGTTATATATAATATATATAACATAT GTGATATATATTATATATAACATATGTTATATATAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19043.hp1 HG02895.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0279 a0002c0002t0008g0278 a0002c0002t0002g0279 a0002c0002t0008g0278	2	284	0.0070	235	c.891 others(254): Show c.891+27285_891+27286insTATATGTTATATATATTATATATAAT ATATGTTATATATATTATATATTATATGTTATATATATTATATATAATAT GTTATATATATTATATATAACATGTTATATATAATATATATGTTATATAT AATATATGTTATATATAATATATGTTATATATATTATATATAACATATGT TATATATAATATATATAACATATGTGATATATATTATATATAACATATGT TATATATAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(228): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGGGGAGAGGGG GAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGAGAGGGGGGAGG GGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03540.hp1 HG06807.hp1 HG02257.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185	3	356	0.0084	235	c.667 others(250): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCC CCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTC CCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCT CTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCTC TCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AP3D1_chr19_2095988_2156566	2128475	C C	CGCTCCGA others(228): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02735.hp1 HG02683.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0026 a0001c0003t0002g0027	2	406	0.0049	235	c.806 others(250): Show c.806+614_806+615insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTC GGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128593	C C	CGCTCCGA others(228): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0114 a0001c0003t0005g0114	1	406	0.0025	235	c.806 others(250): Show c.806+496_806+497insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTC GGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128870	C C	CGCTCCAA others(228): Show CGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCAACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCT CCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	406	0.0025	235	c.806 others(250): Show c.806+219_806+220insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTTGGAGCGG CGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTGTTGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTT GGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128983	C C	CCCCACAG others(228): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC CGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	406	0.0025	235	c.806 others(250): Show c.806+106_806+107insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTC CACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2129023	C C	CCCCACAG others(228): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCGACACTGCACCCCGTGGAGCTGGCCCGCCCCACAGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAG CCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCC CACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	406	0.0025	235	c.806 others(248): Show c.806+66_806+67insCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGC TGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCAGCTCCACGGGGTGCAGTG TCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGT GGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(228): Show AATATATAATATATATTATATATATAATTGTATATAATATATATTATATA TAATTGTATATATAATATATATTATATATATAATGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATATAATTGTATATATAATATATATTATATATAT AATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	384	0.0026	235	c.-12 others(246): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT AATATATATTATATATAATTGTATATATAATATATATTATATATATAATG TATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATATAATTGTATATATAATATATATTATATATATAATTGTATATATAAT ATATATTATATATATAATTGTATATATAATATATATTATATATATAATTG T	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(228): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATATAATGTATATATAATATA TATTATATATAATTGTATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATATAATTGTATATATAATATATATTATATATAT AATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	384	0.0026	235	c.-12 others(246): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATATAA TGTATATATAATATATATTATATATAATTGTATATATAATATATATTATA TATATAATTGTATATATAATATATATTATATATATAATTGTATATATAAT ATATATTATATATATAATTGTATATATAATATATATTATATATATAATTG T	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(228): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTG CGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGGAG TGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAG TGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	342	0.0029	235	c.62 others(246): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGT GGGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTG TGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTG T	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ASMTL_chrX_1398139_1457909	1449723	C C	CCATCACC others(228): Show CCATCACCAGTAACTATCCCCCATCACCAGTAACTATGCCCCATCATCAC CAGTAACTATCCCCCCATCACCAGTAACTATCTCCCATCAACAGTAACTA TCCTCCCATCACCAGTAACTATCCCCACATCACCAGTAACTACCCCCATC ACCAATAACTATGCCCCATCATCAAACCCAGTAACTATCCCACCATCACC AGTAACTAACCCCCACCACCAGTAAATATGCCCCAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0000 a0000	a0000c0007 a0000c0007	a0000c0007t0001 a0000c0007t0001	a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0033 a0000c0007t0001g0034	2	185	0.0108	235	c.93+ others(250): Show c.93+2790_93+3024dupATGGGGCATATTTACTGGTGGTGGGGGTTA GTTACTGGTGATGGTGGGATAGTTACTGGGTTTGATGATGGGGCATAGTT ATTGGTGATGGGGGTAGTTACTGGTGATGTGGGGATAGTTACTGGTGATG GGAGGATAGTTACTGTTGATGGGAGATAGTTACTGGTGATGGGGGGATAG TTACTGGTGATGATGGGGCATAGTTACTGGTGATGGGGGATAGTTACTGG TGATG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASTN2_chr9_116418112_117420057	116936095	A A	ACAACCAA others(228): Show ACAACCAATGCCATCATCATCACCACCACCACCACCACAATTATCACCAC CACCACCATCACTACCACTAAAACCACCACCACTATCACCATCACCACCA CCACCATCACCACCACAACCATCACCACCACCACTACCACAATTATCACC ACCACCATCATCATCACTATCAGTAAAACCACCATCACCACCACCGCCAC CACCACCACAGCTATCACCATCACCACCATCATCAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	102	0.0098	235	c.188 others(256): Show c.1889+39112_1889+39113insATGATGATGGTGGTGATGGTGATA GCTGTGGTGGTGGTGGCGGTGGTGGTGATGGTGGTTTTACTGATAGTGAT GATGATGGTGGTGGTGATAATTGTGGTAGTGGTGGTGGTGATGGTTGTGG TGGTGATGGTGGTGGTGGTGATGGTGATAGTGGTGGTGGTTTTAGTGGTA GTGATGGTGGTGGTGGTGATAATTGTGGTGGTGGTGGTGGTGATGATGAT GGCATTGGTTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ATG10_chr5_81967023_82261133	82139657	T T	TCCGGGAG others(228): Show TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03471.hp1 HG01884.hp1 HG02055.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0009 a0001c0001t0001g0166 a0001c0001t0001g0167	3	226	0.0133	235	c.217 others(254): Show c.217-24741_217-24740insCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTAC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(228): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02280.hp2 HG02572.hp1 others(1): Show HG02148.hp2 HG02280.hp2 HG02572.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034	a0001c0001t0001g0222 a0001c0001t0025g0240 a0001c0001t0026g0234 others(1): Show a0001c0001t0001g0222 a0001c0001t0025g0240 a0001c0001t0026g0234 a0001c0001t0034g0068	4	252	0.0159	235	c.251 others(254): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	83023224	G G	GCCCACCT others(228): Show GCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCC CACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACGTTAGCTTAGGACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0189 a0001c0003t0004g0189	1	266	0.0038	235	c.298 others(252): Show c.298-8706_298-8705insGCGGGGACAGTGCTAAGCTCATGTGAGT TCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCA CGCTGGTGCAGGTGGGCCGGGGACAGTCCTAAGCTAACGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGG TGCAGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGC AGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023271	C C	CCCCACCT others(228): Show CCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCC CACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTG CACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCACCTGCAC CAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp1 HG03579.hp2 others(2): Show HG02055.hp2 HG03041.hp1 HG03579.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0011t0030 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0011t0030 a0001c0029t0001	a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 others(2): Show a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0011t0030g0143 a0001c0029t0001g0141	5	266	0.0188	235	c.298 others(252): Show c.298-8753_298-8752insCCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCA CGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGG TGCAGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGC AGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375110	A A	AAGGGAGG others(228): Show AAGGGAGGGAGGAAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGGAGGAAGGGAGGGAGGTGGAAGGAGGGAGG AGGAAGGGAGGGAGGTGGAAGGGAGGAGGAGGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	184	0.0054	235	c.784 others(250): Show c.784-339_784-338insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGGAGGAAGGGAGGGAGGTGGAAGG AGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGAGGAGGGAAGGGAGGGA GGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(228): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGG GAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAG GGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01243.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0048 a0001c0001t0002g0049	2	298	0.0067	235	c.51+ others(248): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCCCCTCTC CTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCC TCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(228): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGG GAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAG GGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01978.hp1 NA18941.hp2 HG01943.hp2 HG01978.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037	3	298	0.0101	235	c.51+ others(248): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCCCCTCTC CTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCC TCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BLM_chr15_90712346_90821166	90819264	G G	GGCCCCAC others(228): Show GGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGTTCCACGGC CCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGTTCCACGGCCCC ACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGATCCACGGCCCCACA GAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGATCCACGGCCCCACAGAG GGTTCGGTGACGCCTGGGAAGGTGCCGGGTTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	280	0.0036	235	c.39 others(246): Show c.3985_*3986insGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGT GCCGGGTTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCC GGGTTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGG ATCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGATC CACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGTTCCAC A	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding		3099		chr15	TogoVar
BRD1_chr22_49768283_49832873	49802137	G G	GGAGACCA others(228): Show GGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGA GACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGAC CAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAA TGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGACCAATGC CTCCACTCTCTTCCATTCCCCAACATCGCGGGGGCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03017.hp2 NA18940.hp1 others(3): Show HG02040.hp1 HG03017.hp2 NA18940.hp1 NA18943.hp1 NA18950.hp1 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 others(3): Show a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220	6	258	0.0233	235	c.152 others(254): Show c.1524+2066_1524+2067insGGCCCCCGCGATGTTGGGGAATGGAA GAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAG AGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGT GGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGTGGA GGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGTGGAGGC ATTGGTCTC	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
BRSK2_chr11_1384934_1467689	1430635	G G	GGGTCTGG others(228): Show GGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	360	0.0028	235	c.92- others(250): Show c.92-5332_92-5331insCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433099	A A	AGGTTTTG others(228): Show AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCGGG TTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTT TGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGC CACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCAC TGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA21309.hp2 HG02809.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0023 a0001c0001t0024g0292 a0001c0001t0001g0023 a0001c0001t0024g0292	2	360	0.0056	235	c.92- others(250): Show c.92-2925_92-2924insCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC GGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGG TTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTT TGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGC CACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCAC TGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433099	A A	AGGTTTTG others(228): Show AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCGGG TTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTT TGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGC CACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCAC TGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0022 a0001c0001t0013g0022	1	360	0.0028	235	c.92- others(250): Show c.92-2925_92-2924insCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC GGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGG TTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTT TGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGC CACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCAC TGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(228): Show AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAG CGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	360	0.0028	235	c.92- others(250): Show c.92-2880_92-2879insGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG GGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGT TTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTT GCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(228): Show AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCGGT GAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAG CGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0250 a0002c0002t0005g0250	1	360	0.0028	235	c.92- others(250): Show c.92-2880_92-2879insGCCCAGCGGTGAGCGTCTTCTGCGGTCTGG TCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG GGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGT TTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTT GCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(228): Show AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAG CGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0303 a0001c0001t0011g0303	1	360	0.0028	235	c.92- others(250): Show c.92-2880_92-2879insGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG GGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGT TTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTT GCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(228): Show AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCGGT GAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAG CGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	360	0.0028	235	c.92- others(250): Show c.92-2880_92-2879insGCTCAGCGGTGAGCGTCTTCTGCGGTCTGG TCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG GGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGT TTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTT GCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(228): Show AGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGT GAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAG CGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01081.hp2 others(1): Show HG00323.hp2 HG00741.hp1 HG01081.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0036 a0001c0001t0003 a0001c0001t0021 a0001c0001t0036	a0001c0001t0003g0220 a0001c0001t0021g0206 a0001c0001t0021g0221 others(1): Show a0001c0001t0003g0220 a0001c0001t0021g0206 a0001c0001t0021g0221 a0001c0001t0036g0300	4	360	0.0111	235	c.92- others(250): Show c.92-2895_92-2894insGGGTTTTGCCACTGTGCCCAGCGGTGAGCG TCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCT TCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCT GCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCG GTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTC TGGTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433137	G G	GGTCTGGT others(228): Show GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTG GTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTC GGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGG TTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02145.hp1 HG01943.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0052 a0001c0001t0001g0053	2	360	0.0056	235	c.92- others(250): Show c.92-2880_92-2879insGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG GGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGT TTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTT GCCACTGTGCTCAGCGGTGAGCGTCTTCTGCAGTCTGGTCAGGTTTTGCC ACTGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(228): Show TATATATATAATATATAATATATATTATATATAATATATATTATATATAA TATATAATATATATTATATATAATATATATTATATATAATATATAATATA TATTATATATAATATATATTATATATTATATATAATATATTATATATATT ATATAATATATATTATATAATATATATTATAAAATATATATTATATAAAA TATATATTATATATTATATATATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp2 HG02896.hp1 others(1): Show HG01192.hp1 HG02895.hp2 HG02896.hp1 HG06807.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0004 a0012c0023 a0001c0001 a0002c0004 a0012c0023	a0001c0001t0007 a0002c0004t0005 a0012c0023t0001 a0001c0001t0007 a0002c0004t0005 a0012c0023t0001	a0001c0001t0007g0028 a0001c0001t0007g0029 a0002c0004t0005g0148 others(1): Show a0001c0001t0007g0028 a0001c0001t0007g0029 a0002c0004t0005g0148 a0012c0023t0001g0117	4	218	0.0184	235	c.314 others(254): Show c.314-50897_314-50896insTATATAATATATAATATATATAATAT ATAATATATATTTTATATAATATATATTTTATAATATATATTATATAATA TATATTATATAATATATATAATATATTATATATAATATATAATATATATT ATATATAATATATATTATATATTATATATAATATATATTATATATAATAT ATATTATATATTATATATAATATATATTATATATAATATATATTATATAT TATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C1orf159_chr1_1076823_1121089	1099177	A A	AGAGGTTA others(228): Show AGAGGTTAAAATCTCCAACTACGATTGTGGATTGTCTATTGATGTTTTTG GTCTGTTGTTCTAAGAATCGGAGAGAGAGAGGTTAAAATCTCCAACTATG ATTGTGGATTGTCTATTGATGTTTTTGGTCTGTTGTTCTAAGAATCGGAG AGAGAGAGGTTAAAATCTCCAACTATGATTGTGGATTGTCTATTGATGTT TTTGGTCTATTGTTCTAAGAATCGGAGAGAAAGAGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0292 a0005c0007t0004g0292	1	326	0.0031	235	c.-13 others(254): Show c.-135-7075_-135-7074insCCTCTTTCTCTCCGATTCTTAGAACA ATAGACCAAAAACATCAATAGACAATCCACAATCATAGTTGGAGATTTTA ACCTCTCTCTCTCCGATTCTTAGAACAACAGACCAAAAACATCAATAGAC AATCCACAATCATAGTTGGAGATTTTAACCTCTCTCTCTCCGATTCTTAG AACAACAGACCAAAAACATCAATAGACAATCCACAATCGTAGTTGGAGAT TTTAACCTC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
C4orf50_chr4_5954375_6023431	6004446	G G	GTGATGGT others(228): Show GTGATGGTGATGCTGATGATGGTGATGATGGTGATGGTGATGATAGTGAT GATGGTGATGATGGTGATGGTGATGATATTGATGGTGATGATATTGATGG TGATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGA TAGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATG ATGGTGATGGTGATGATGTGATGGTGATGATAGTGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0000 a0004c0003t0000	a0004c0003t0000g0138 a0004c0003t0000g0138	1	346	0.0029	235	c.963 others(252): Show c.963+3549_963+3550insTCACTATCATCACCATCACATCATCACC ATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCACCAT CATAACTATCACCATCATCACCATCATCACCATCACATCATCACCATCAC CATCATCACCATCAATATCATCACCATCAATATCATCACCATCACCATCA TCACCATCATCACTATCATCACCATCACCATCATCACCATCATCAGCATC ACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1I_chr22_39565753_39694735	39601998	T T	TTCCTTCC others(228): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCT CTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp2 others(2): Show HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02895.hp1 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0009 a0001c0026 a0001c0027 others(1): Show a0001c0009 a0001c0026 a0001c0027 a0003c0005	a0001c0009t0007 a0001c0026t0051 a0001c0027t0015 others(1): Show a0001c0009t0007 a0001c0026t0051 a0001c0027t0015 a0003c0005t0005	a0001c0009t0007g0135 a0001c0026t0051g0169 a0001c0027t0015g0136 others(2): Show a0001c0009t0007g0135 a0001c0026t0051g0169 a0001c0027t0015g0136 a0003c0005t0005g0170 a0003c0005t0005g0172	5	236	0.0212	235	c.482 others(252): Show c.482+1348_482+1349insTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAPN12_chr19_38725192_38749474	38735972	C C	CGGGGCGG others(228): Show CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGCGGGGGTTCTGGGGGGCGGGGCGGGGCGGGGGTTCTGGG GCGGGGGGCGGGGGCGGGGCGGGGGGTTCTGGGGGCGGGGGCGGGGGCGG GGCGGGGGGGGGTTTCTGGGGGCGGGCGGGGCGGGGGTTCTGGGCCGGCG GGGTCTGGGGGTCTGGGGGGGGGCGGGGGCGGGGCA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0022 a0022	a0022c0035 a0022c0035	a0022c0035t0002 a0022c0035t0002	a0022c0035t0002g0206 a0022c0035t0002g0206	1	342	0.0029	235	c.158 others(252): Show c.1583+137_1583+138insTGCCCCGCCCCCGCCCCCCCCCAGACCC CCAGACCCCGCCGGCCCAGAACCCCCGCCCCGCCCGCCCCCAGAAACCCC CCCCCGCCCCGCCCCCGCCCCCGCCCCCAGAACCCCCCGCCCCGCCCCCG CCCCCCGCCCCAGAACCCCCGCCCCGCCCCGCCCCCCAGAACCCCCGCCC CCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCC CCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(228): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGAGAAGG GGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGG AGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0294 a0002c0004t0004g0294	1	364	0.0028	235	c.234 others(252): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCTCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(228): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0028 a0001c0002t0012g0028	1	364	0.0028	235	c.234 others(252): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTC TTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAAGAG others(228): Show AAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGG GGAGGGGGGAGGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAA GGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0225 a0001c0002t0003g0225	1	364	0.0028	235	c.234 others(252): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCCTC CCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTC CTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar

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