Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DOCK8_chr9_209865_470255	400952	A A	ACCACCTC others(422): Show ACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTC CACTATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACTTCCTTCACCACCACCACCATCTTCACCGTC ACCACCACCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCCAC CATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACC ATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCAC CACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCAGCATCTTCACCATCACCACCACCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0146 a0003c0004t0001g0146	1	256	0.0039	429	c.323 others(448): Show c.3234+1698_3234+1699insTCCACCATCACCACCTCCTTCACCAT CACCATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACTTCCTTCACCACC ACCACCATCTTCACCGTCACCACCACCTCCACCACCACCACCTCCTCCAC CACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCACCTCCACCATCACCACCAC CTCCACCATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89635197	C C	CCTTTCCC others(422): Show CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTCCTTCTC CTTTCCCCTTCCTTCTCCTTTCCCCTTCCCTTCTCCTTCTCCCCTTCCTT CCTTCCTTCTCCTTCCTCCTTCCTTCCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCTCTTC CTTCCCTTTCTCCTCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCTTCCT TCCCTTTCCCTTCCTTCCCTTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	250	0.0040	429	c.105 others(444): Show c.105-704_105-703insTTCCTTCTCCTTTCCCCTTCCTTCTCCTTT CCCCTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCCTTCTCCTT CTCCCCTTCCTTCCTTCCTTCTCCTTCCTCCTTCCTTCCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTC CCTTTCCTCTTCCTTCCCTTTCTCCTCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCTTCCTTCCCTTTCCCTTCCTTCCCTTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTTCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EML1_chr14_99788413_99947060	99927949	T T	TGGTGGTG others(422): Show TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGAGGTGGTGGTGATGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0030 a0001c0004t0003g0030	1	288	0.0035	429	c.190 others(448): Show c.1909+7077_1909+7078insTGGAGGTGGTGGTGGTGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTPD6_chr20_25190712_25233075	25217700	C C	CCACCCAG others(422): Show CCACCCAGACCTCTCTCTCCTCCTCCTCCTTCTCCCGCCTCCTCTGCCCT CCTCCTTCATCCTTTAATGTGTCTACAGTATACGCACATTCACCCAGACC TCTCTCTCCTCCTCCTCCTCCCACCTCCTCTGGTCCTTCTCCTTCATCCT TTATCTATAGTATACGCACATTAACCCAGACCTCTCTCTCCTCCTCCTCC TCCCGCCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATA CACACATTAACCCAGACCTCTCTCTCCTCCTCCTCCTCCCACCTCCTCTG TCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACGCACATTCACCCA GACCTCTCTCTCCTCCTCCTCCTCCCACCTCCTCTGTCCTCCTCCTTCAT CCTTTAATGTGTCTACAGTATACGCACATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(6): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG02109.hp2 HG04204.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0011 a0002c0002t0003g0094 a0002c0002t0003g0106 others(2): Show a0002c0002t0003g0011 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0208 a0002c0002t0003g0212	9	380	0.0237	429	c.879 others(444): Show c.879-475_879-474insACCTCCTCTGTCCTCCTCCTTCATCCTTTA ATGTGTCTACAGTATACGCACATTCACCCAGACCTCTCTCTCCTCCTCCT CCTTCTCCCGCCTCCTCTGCCCTCCTCCTTCATCCTTTAATGTGTCTACA GTATACGCACATTCACCCAGACCTCTCTCTCCTCCTCCTCCTCCCACCTC CTCTGGTCCTTCTCCTTCATCCTTTATCTATAGTATACGCACATTAACCC AGACCTCTCTCTCCTCCTCCTCCTCCCGCCTCCTCTGTCCTCCTCCTTCA TCCTTTAATGTGTCTACAGTATACACACATTAACCCAGACCTCTCTCTCC TCCTCCTCCTCCCACCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTC TACAGTATACGCACATTCACCCAGACCTCTCTCTCCTCCTCCTCCTCCC	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
ENTPD6_chr20_25190712_25233075	25217990	A A	ACCTCCTC others(422): Show ACCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACGCA CATTCACCCAGACCTCTCTCTCCTCCTCCTCCTCCCACCTCCTCTGTCCT CCTCCTTCATCCTTTAATGTGTCTACAGTATACGCACATTCACCCAGACC TCTCTCTCCTCCTCCTCCTTCTCCCGCCTCCTCTGCCCTCCTCCTTCATC CTTTAATGTGTCTACAGTATACGCACATTCACCCAGACCTCTCTCTCCTC CTCCTCCTCCCACCTCCTCTGGTCCTTCTCCTTCATCCTTTATCTATAGT ATACGCACATTAACCCAGACCTCTCTCTCCTCCTCCTCCTCCCGCCTCCT CTGTCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACGCACATTCAC CCAGACCTCTCTCTCCTCCTCCTCCTCCCG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0039 a0002c0002t0003g0039	2	380	0.0053	429	c.879 others(444): Show c.879-475_879-474insACCTCCTCTGTCCTCCTCCTTCATCCTTTA ATGTGTCTACAGTATACGCACATTCACCCAGACCTCTCTCTCCTCCTCCT CCTTCTCCCGCCTCCTCTGCCCTCCTCCTTCATCCTTTAATGTGTCTACA GTATACGCACATTCACCCAGACCTCTCTCTCCTCCTCCTCCTCCCACCTC CTCTGGTCCTTCTCCTTCATCCTTTATCTATAGTATACGCACATTAACCC AGACCTCTCTCTCCTCCTCCTCCTCCCGCCTCCTCTGTCCTCCTCCTTCA TCCTTTAATGTGTCTACAGTATACGCACATTCACCCAGACCTCTCTCTCC TCCTCCTCCTCCCGCCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTC TACAGTATACGCACATTCACCCAGACCTCTCTCTCCTCCTCCTCCTCCC	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
GALNT17_chr7_71127144_71718599	71680082	T T	TCCCTCCC others(422): Show TCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCC TCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTC TCCCTTCCTCCCTCCCTCTCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp2 HG02622.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0024 a0001c0001t0002g0015 a0001c0001t0002g0024	2	76	0.0263	429	c.150 others(448): Show c.1500+2778_1500+2779insCTCCCTCTCTCTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTGTCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTGTCT TCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCTCTCCCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCT CTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCT CCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLIS1_chr1_53501239_53744164	53713134	A A	AGGCAACA others(422): Show AGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGAGCAACATGC TGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCAT CTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGAC CAGCCTGGGCAACATGCTGAGACCTCATCTCTTCAAGACCAGCCTGGGCA ACATGCTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGA CCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTT CAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCC TGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATG GTGAGACCTCATCTCTTCAAGACCAGCCTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0005 a0019c0028t0005	a0019c0028t0005g0092 a0019c0028t0005g0092	1	236	0.0042	429	c.259 others(448): Show c.259+24671_259+24672insCAGGCTGGTCTTGAAGAGATGAGGTC TCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTG CCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGT CTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGAT GAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCAGC ATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCAGCATGTTGCCCAG GCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGA AGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGT CTCAGCATGTTGCTCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTT GCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53713134	A A	AGGCAACA others(422): Show AGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGG TGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCAT CTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGAC CAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCA ACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGA CCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTT CAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCC TGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATG GTGAGACCTCATCTCTTCAAGACCAGCCTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0011 a0006c0007t0011	a0006c0007t0011g0008 a0006c0007t0011g0008	1	236	0.0042	429	c.259 others(448): Show c.259+24671_259+24672insCAGGCTGGTCTTGAAGAGATGAGGTC TCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTG CCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGT CTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGAT GAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACC ATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAG GCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGA AGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGT CTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTT GCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53713440	C C	CAGCCTGG others(422): Show CAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCA ACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGA CCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTT CAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCC TGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATG GTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCA TCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGA CCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGC AACATGGTGAGACCTCATCTCTTCAAGACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0039 a0004c0004t0003g0039	1	236	0.0042	429	c.259 others(448): Show c.259+24365_259+24366insTGTCTTGAAGAGATGAGGTCTCACCA TGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGG CTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAA GAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTC TCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTG CCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGT CTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGAT GAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACC ATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAG GCT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGGAAGG others(422): Show GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGGGAGGGAGGGGGGGGAGGGAGGG GAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGG AGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGG AGGGAGGGAGGGGAAGGAAAGGAGGGAGGGGAAGGGAGGGAGGGAGGGGA AGGAAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGG AAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGG AAGGAAGGAAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	188	0.0053	429	c.229 others(448): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTCCCTCCCTTCCTT CCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTC CCTTCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCT TCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCTTTCCTTCCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTTCCCCTCCCTCCCCCCCCTCCCTCCCCCTCCCTCCCTCCCTTCCCCTC CCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCC TCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTT CCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(422): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACATATACACACATACACCCATACACACAC ATCATACACACACACACCACACACATACACCACACACACCACACATGCAC ACACACCACACACATATATACGCATACACCCATACACACATCATACACAC ACCACACACACCACACATGCACACCACACACATACACGCATACACCCATA CACACACATCATACACACACACACCACACACACCACACACATATACGCAT ACACCCATACACACACATCATACACACACATACACCACACACACCACACA CGCACACCACACACATATACACACATACACCCATGCACACACATCATACA CAAACCACACATACCACACACATACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG03471.hp2 HG02451.hp1 HG02717.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0056 a0001c0002t0001g0035 a0001c0002t0001g0056	3	414	0.0073	429	c.32 others(440): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTA TGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCGTGTG TGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGTATGC GTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTGTATG GGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGTGTGT GTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGTGTGC ATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGATGTGT GTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGTGTGTGTATGGGTG TGTGCGTATATATGTGTGTGGTGTGTGTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(422): Show AGGAGGGGCAGGAGCGGGGGAGGGGCGGGGGAGGGCCGGGGGAGGGGCAG GGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTGGGGGGGGCGGGAGGCCT TGGGGAGAGAGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGG GCGGGGGAGGGGCGGGGCTGGGGGGCGGGAGGACTTGGGGAGAGAGGAGG GGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGGCGG GGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGCAGGAGCGGGGGA GGGGGAGGGGCAGGGGAGGACCCAGGGCGGGGGAGGGGCGGGGCTGGGGG CGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGGGAGGGGAGAGAG GAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	288	0.0035	429	c.-39 others(438): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCGCCCTGGGTCCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCCT CTCTCCCCAAGTCCTCCCGCCCCCCAGCCCCGCCCCTCCCCCGCCCTGGG TGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCCTCTCTCCCCAAGGCCT CCCGCCCCCCCCAGCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCC CTCCCCCGGCCCTCCCCCGCCCCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GSE1_chr16_85608322_85681200	85653191	C C	CCCCTCCG others(422): Show CCCCTCCGCCCCCCTCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCCCCCTCCTCCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCTCCCCCCCTCCCCCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCCCCTC CCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCC TCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCC CCCCCCCTCCTCCTCCTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	290	0.0035	429	c.427 others(446): Show c.427-1085_427-1084insCTCCGCCCCCCTCCTCCTCCCCCCCCTC CCCCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCCTC CTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCCTCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCCTCCCCCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCC CCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCTCCTCCTCCCCCTCCTCCCCCCCCCTCCTCCTCCTCC CCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCCCCCTCCTC C	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106710081	A A	ATGTATAT others(422): Show ATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATACA TGTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAG TTATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATA CATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATAT AGTTATGTATATTATATACATGTATATAACATATAGTTATGTATATTATA TACATGTATATAACATATAGTTATGTATATTATATACATGTATATAACAT AGTTATATACATATAACTATATGTATATAATATATAGTACATGTATATAA TATATAGTTATATATAATATAGTTATATACATGTATATAATATATAGTTA TATATAATAGTTATATATATTATATACATG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0076 a0001c0001t0037g0076	1	256	0.0039	429	c.183 others(448): Show c.1837-1416_1837-1415insCATGTATATAATATATATAACTATTA TATATAACTATATATTATATACATGTATATAACTATATTATATATAACTA TATATTATATACATGTACTATATATTATATACATATAGTTATATGTATAT AACTATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATA TACATGTATATAATATACATAACTATATGTTATATACATGTATATAATAT ACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(422): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0137 a0001c0011t0006g0137	1	394	0.0025	429	c.41- others(444): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63234501	A A	AAAAAAAA others(422): Show AAAAAAAAAAAAAAAAAAAAACACCAAAAACAAAAACCTTCCCTATCCTA TAAAAAAAAACCTTTTAATATGTTAATACTTAAATTTTTAGATTTGCTAA AAATATCGTTAAAGGCCTATAAAAAGAACGAGTTATTTAATGCAATATTA AGCTGGGCATGGTGGTTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGA GGCAGGTGAAACGCTGAGCCCAGAGTTTGAGACCAGCCTGGGCAACATGG CGAGACCCTGTTTCTACAAGAAATACAAAAATTAGGCAGGTGTTATGGTG CATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGTGGGAGGATTGCTTG AGCATGGGAGGTAGAGGCTGCAGTGAGCCACGATCGCACCACTGCACTCC AGCCTCATCAACAGAGAGAAACCTCCTCTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0182 a0003c0003t0001g0182	1	310	0.0032	429	c.448 others(448): Show c.448-14519_448-14518insAAGAGGAGGTTTCTCTCTGTTGATGA GGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTACCTCCCA TGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGACTACAGG CATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGAAACAGGGT CTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCGTTTCACC TGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACCACCATGCCC AGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTTTAACGAT ATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAGGTTTTTT TTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTTTTTTTTT TTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(422): Show TTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGATAAT ATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATATAGA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAAT ATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTA TAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATA TCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATC TATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATAT TATCTATATTATAGATATTATCTATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0010 a0010	a0010c0033 a0010c0033	a0010c0033t0001 a0010c0033t0001	a0010c0033t0001g0376 a0010c0033t0001g0376	1	414	0.0024	429	c.480 others(444): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTAT ATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTAT CTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATA TCTATATTATAGATATTATCTATAATATAGATAATATCTATATTATAGAT ATTATCTATAATATAGATATAGATAATATCTATATCTATAATATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(422): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACATATACACACATACACCCATACACACAC ATCATACACACACACACCACACACATACACCACACACACCACACATGCAC ACACACCACACACATATATACGCATACACCCATACACACATCATACACAC ACCACACACACCACACATGCACACCACACACATACACGCATACACCCATA CACACACATCATACACACACACACCACACACACCACACACATATACGCAT ACACCCATACACACACATCATACACACACATACACCACACACACCACACA CGCACACCACACACATATACACACATACACCCATGCACACACATCATACA CAAACCACACATACCACACACATACACCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG03471.hp1 HG02451.hp2 HG02717.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0007 a0002c0002t0006 a0002c0002t0007	a0002c0002t0006g0056 a0002c0002t0007g0030 a0002c0002t0006g0056 a0002c0002t0007g0030	3	400	0.0075	429	c.-39 others(446): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTG CGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGT GTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTG TGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTG GTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGT GTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATG ATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGTGTGTGTA TGGGTGTGTGCGTATATATGTGTGTGGTGTGTGTGTGTATGATGTGTGTG T	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KLHDC4_chr16_87702812_87770986	87738779	T T	TCCACACA others(422): Show TCCACACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCAC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	380	0.0026	429	c.507 others(446): Show c.507-8136_507-8135insGTGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGA TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTG G	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739071	C C	CCATCCAC others(422): Show CCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC CACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCATCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	380	0.0026	429	c.507 others(446): Show c.507-8428_507-8427insAGATGCTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGAT G	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(422): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAAA GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAA GAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	316	0.0032	429	c.583 others(444): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC TTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTC CCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTC TTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTC TTTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTC CTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(422): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAA GAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(81): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02559.hp1 HG02683.hp1 HG02886.hp2 HG02965.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18971.hp2 NA18980.hp1 NA19004.hp2 NA19055.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0015	a0001c0001 a0003c0005 a0006c0007 others(1): Show a0001c0001 a0003c0005 a0006c0007 a0015c0020	a0001c0001t0001 a0003c0005t0001 a0006c0007t0001 others(1): Show a0001c0001t0001 a0003c0005t0001 a0006c0007t0001 a0015c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0003c0005t0001g0125 a0006c0007t0001g0105 a0015c0020t0001g0180	84	316	0.2658	429	c.583 others(444): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC TTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTC CCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTC TTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTC CCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTC CTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(422): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAG GAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGA GAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGG GGGAGGAGGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAA GAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	316	0.0032	429	c.583 others(444): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCCTCCTCCC CCCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTC TCCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTC CTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTC CCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTC TTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTC CCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTC CTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(422): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAA GAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp2 HG02486.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0023 a0001c0001t0001g0068	2	316	0.0063	429	c.583 others(444): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCTCCTCCCCC TCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCT CCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCT TCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCC CCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTC TTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTC CCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTC CTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(422): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATG AAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAG GAGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGG GGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAA GAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	316	0.0032	429	c.583 others(444): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTC CTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTT CATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCC CCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTC TTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTC CCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTC CTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(422): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGGAGGGGGGTCA GGGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGG AAGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGGAG GGGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGAT GAAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGA GGAGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAA GAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0103 a0007c0019t0001g0103	1	316	0.0032	429	c.583 others(444): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCC TCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTT CCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCCTCCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTC CTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(422): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGGAGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGGAGGGGGAGG GGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAAATGAGGAAGAGGAGGAGGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAA GAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	316	0.0032	429	c.583 others(444): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCTTCCTCATTTTCTC CTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCT CATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCC CCTCCCCCTCCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCT TCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCC CTGACCCCCTCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTC CTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LAMA1_chr18_6936742_7122797	6953049	G G	GTGTCCAG others(422): Show GTGTCCAGCGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTCCAGTGG ATCCACACCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCAT AGGAGCCATGTCTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGT CTGCCTGTGTCCAGCAGATCCACGCCATGGGAGCCATGTCTGCCTGTGTC CAGTGGATCCACACCATGGGAGCCATGTCTGCCTGTGTCCAGTGGATCCA CACCATGGGAGCCATGTCTGCCTGTGTCTGGCGGATCCACGCCATGGGAG CCATGTCTGCCTGTGTCCAGTGGATCCACCCCATGGGAGCCATGTCTGCC TATGTCCGGCGGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTG GATCCACGCCATGGGAGCCATGTCTGCCTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0119 a0119	a0119c0054 a0119c0054	a0119c0054t0002 a0119c0054t0002	a0119c0054t0002g0060 a0119c0054t0002g0060	1	278	0.0036	429	c.820 others(448): Show c.8208-2079_8208-2078insTAGGCAGACATGGCTCCCATGGCGTG GATCCACTGGACACAGGCAGACATGGCTCCCATGGCGTGGATCCGCCGGA CATAGGCAGACATGGCTCCCATGGGGTGGATCCACTGGACACAGGCAGAC ATGGCTCCCATGGCGTGGATCCGCCAGACACAGGCAGACATGGCTCCCAT GGTGTGGATCCACTGGACACAGGCAGACATGGCTCCCATGGTGTGGATCC ACTGGACACAGGCAGACATGGCTCCCATGGCGTGGATCTGCTGGACACAG GCAGACATGGCTCCCATGGCGTGGATCCACTGGACACAGGCAGACATGGC TCCTATGGCGTGGATCCACTGGACACGGGCAGACATGGCTCCCATGGTGT GGATCCACTGGACACGGGCAGACATGGCTCCCATGGCGTGGATCCGCTGG ACA	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62			chr18	TogoVar
LAMC1_chr1_183018420_183150592	183149528	T T	TCACATCC others(422): Show TCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCA CACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACACCCC TCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAG CTCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTC CTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACA CCTCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACA CCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTC TCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCT CACATCCCTCTCCTCACACACCACACAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0292 a0001c0003t0003g0292	1	308	0.0033	429	c.67 others(440): Show c.6738_*6739insCACATCCCTCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCC TCACACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCC CACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACAC ACCACACAGCTCACACCTCTCTCCTCCTCACACACCACACAGCCCACACC CCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACA CAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTC ACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3937		chr1	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(422): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGG GTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGA GCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGG TGAGGGTGCTGGTGGAGCGGGTGAGGGTGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	260	0.0039	429	c.717 others(446): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCT G	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(422): Show TATATAATATATAATATATAATATATAATATATATTTATTAATAATATAT ATAATATATATATTTATTTATATATATTATTATATGTATATAAATATATA TATTTATTAATATATATAAATATATATATTTATTAATAATATATATAATA TATATATAATATATAATATATAATATATAATATATATTTATATATAATAT ATAATATATAATATATAATATATATTTATATATAATATATAATATATAAT ATATAATATATATTATATATAATATATTATATATAATATATTATATATAA TTATATATAATATATAATTATATATTATATATAATTATATAATATATAAT ATATATATTATTATATATATAATAATATATATATAATATATAATTATACA TAATATATAATATATAATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	316	0.0032	429	c.622 others(444): Show c.622-755_622-754insATATAATATATAATATATAATATATAATAT ATATTTATTAATAATATATATAATATATATATTTATTTATATATATTATT ATATGTATATAAATATATATATTTATTAATATATATAAATATATATATTT ATTAATAATATATATAATATATATATAATATATAATATATAATATATAAT ATATATTTATATATAATATATAATATATAATATATAATATATATTTATAT ATAATATATAATATATAATATATAATATATATTATATATAATATATTATA TATAATATATTATATATAATTATATATAATATATAATTATATATTATATA TAATTATATAATATATAATATATATATTATTATATATATAATAATATATA TATAATATATAATTATACATAATATATAATATATAATTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(422): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAAGGGAGAGG GGAGGGGACAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAC AGGGGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAGGGGAGGGGAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGA GAGGGGAGAGGGGAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGA AGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	104	0.0096	429	c.313 others(450): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCTTCCTCTCCCCTCT CCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTGTC CCCTCCCCTCTCCCTTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCC CTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCCTGCCCTCTACCCTC CCCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTCCTCCCCCGTCCCCTCCC CTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MARCHF1_chr4_163519718_164389019	163894633	T T	TATATATG others(422): Show TATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATG TGATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGAT GCATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCAT ATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATAT ATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATAT GCATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCAT GTGATGCATATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	102	0.0098	429	c.-38 others(448): Show c.-38-40465_-38-40464insGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATATGCATCAC ATGCATATATATATATGCATCACATGCATATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATGCATCACATGCATATATATATATGCATCACATGCATATATATAT ATGCATCACATGCATATATATATATGCATCACATGCATATATATATATGC ATCACATGCATATATATATATGCATCACATGCATATATATATATGCATCA CATGCATATATATATATGCATCACATGCATATATATATATGCATCACATG CATATATATATATGCATCACATGCATATATATATATGCATCACATGCATA TAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(422): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTATATATAATATAATTATATAATATATAATTT ATATATAATATAATTATATAATATATAATTTATATATTATATAATTATAT AATATATAATTTATATATTATATAATTATATAATATATAATTTATATATA ATATAATTATATAATATATAATTTATATATAATATAATTATATAATATAT AATTTATATATAATATAATTATATAATATATAATTTATATATAATATAAT TATATAATATATAATTTATATATAATATAATTATATAATATATAATTTAT ATATAATATAATTATATAATATATAATTTATATATAATATAATTATATAA TATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	429	c.-31 others(440): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATTATA TATAAATTATATATTATATAATTATATAATATATAAATTATATATTATAT AATTATATAATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATTATATAATTATATTATATATAATTATATATATATAATTATATA TAAATTATATATTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(422): Show TATATATATAATTATAATATAATATATTATATATATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATTAATTATATAATATATAATTTATATATAATATAATTATAT AATATATAATTTATATATAATATAATTATATAATATATAATTTATATATT ATATAATTATATAATATATAATTTATATATAATATAATTATATAATATAT AATTTATATATAATATAATTATATAATATATAATTTATATATAATATAAT TATATAATATATAATTTATATATAATATAATTATATAATATATAATTTAT ATATAATATAATTATATAATATATAATTTATATATAATATAATTATATAA TATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0023 a0002c0002t0003g0023	1	288	0.0035	429	c.-31 others(440): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTAATTATATATAAATT ATATATTATATAATTATATTATATATAAATTATATATATATAATTATATA TAAATTATATATATATATAATATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(422): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCA CTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGC CTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTAC TGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCC TACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACT GGTCAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp1 NA20300.hp2 HG02717.hp1 HG02922.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206	3	344	0.0087	429	c.197 others(448): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(422): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCA CTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGC CTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGCAC TGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCC TACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACT GGTCAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01361.hp1 HG01069.hp2 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0059 a0002c0002t0001g0060	2	344	0.0058	429	c.197 others(448): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(422): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCA CTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGC CTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGTAC TGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCC TACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACT GGTCAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(100): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19083.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0002c0014 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0002c0002t0001 a0002c0014t0001 a0006c0013t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(97): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0002g0174 a0001c0011t0001g0024 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0029 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0014t0001g0217 a0006c0013t0001g0252	103	344	0.2994	429	c.197 others(448): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(422): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCA CTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGC CTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGTAC TGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCC TACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACT GGTCAAATCAGAGGCCTATAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	344	0.0029	429	c.197 others(448): Show c.1978-1077_1978-1076insACATTTGACCTATAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(422): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCA CTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGC CTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGTAC TGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCC TACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT GGTCAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	344	0.0029	429	c.197 others(448): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(422): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCA CTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGC CTACAGCCCAAATGTACTGGTCAAATCGGAGGCCTACAGGTCAAATGTAC TGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCC TACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACT GGTCAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00621.hp1 others(102): Show HG00423.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp2 NA18985.hp1 NA18987.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0012 others(2): Show a0001c0001 a0001c0009 a0001c0012 a0001c0016 a0002c0002	a0001c0001t0001 a0001c0009t0001 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0009t0001 a0001c0012t0001 a0001c0016t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0042 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0009t0001g0307 a0001c0012t0001g0157 a0001c0016t0001g0319 a0002c0002t0001g0067	105	344	0.3052	429	c.197 others(448): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGACCTGTAGGCCTCCGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(422): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCA CTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGC CTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGTAC TGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCC TACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACT GGTCAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 HG02970.hp2 others(1): Show HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03453.hp2	a0003 a0003	a0003c0005 a0003c0007 a0003c0005 a0003c0007	a0003c0005t0001 a0003c0007t0001 a0003c0005t0001 a0003c0007t0001	a0003c0005t0001g0033 a0003c0005t0001g0036 a0003c0007t0001g0034 others(1): Show a0003c0005t0001g0033 a0003c0005t0001g0036 a0003c0007t0001g0034 a0003c0007t0001g0035	4	344	0.0116	429	c.197 others(448): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(422): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	390	0.0026	429	c.112 others(446): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT A	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCATCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCTGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18959.hp2 HG00544.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0077 a0001c0001t0075 a0001c0001t0077	a0001c0001t0075g0090 a0001c0001t0077g0085 a0001c0001t0075g0090 a0001c0001t0077g0085	2	386	0.0052	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCATCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCTGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCAT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0001 a0001c0002t0007g0001	1	386	0.0026	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCATCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCACCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02257.hp2 HG01891.hp1 HG02055.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0035 a0001c0001t0003g0049 a0001c0001t0012g0035 a0001c0001t0003g0035 a0001c0001t0003g0049 a0001c0001t0012g0035	3	386	0.0078	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCACCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCACCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	386	0.0026	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCACCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCACCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02083.hp1 HG03834.hp2 others(1): Show HG00597.hp1 HG02083.hp1 HG03834.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0033 a0001c0002t0053 a0001c0002t0005 a0001c0002t0033 a0001c0002t0053	a0001c0002t0005g0001 a0001c0002t0033g0051 a0001c0002t0053g0001 a0001c0002t0005g0001 a0001c0002t0033g0051 a0001c0002t0053g0001	4	386	0.0104	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCACCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGACGAGCG CCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	386	0.0026	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT AGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(51): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00597.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01981.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG04199.hp2 NA18962.hp2 NA18966.hp2 NA18977.hp2 NA18978.hp2 NA19005.hp2 NA19030.hp1 NA19076.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0006 a0007c0012 a0001c0001 a0004c0006 a0007c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0004c0006t0003 a0007c0012t0003	a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0015 others(27): Show a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0024 a0001c0001t0003g0073 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0004g0004 a0001c0001t0004g0037 a0001c0001t0012g0015 a0001c0001t0012g0019 a0001c0001t0012g0024 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0017g0015 a0001c0001t0017g0033 a0001c0001t0017g0034 a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0018g0019 a0001c0001t0018g0037 a0001c0001t0029g0005 a0001c0001t0030g0034 a0001c0001t0030g0086 a0001c0001t0034g0015 a0001c0001t0035g0091 a0004c0006t0003g0009 a0007c0012t0003g0009	54	386	0.1399	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar

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