Joint Open Genome and Omics Platform (JoGo)

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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

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
THNSL2_chr2_88165346_88191627	88181102	C C	CTCTCTCT others(242): Show CTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTC TCTCTCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTC CTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTC TCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	54	0.0185	249	c.803 others(266): Show c.803-1597_803-1596insTCTCTCTCCTCTCTCTCCTCTCTCTCCT CTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCCTCTCT CCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTC TCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCT CTCCTCTCTCTCCTCTCTCTT	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8			chr2	TogoVar
TMCO3_chr13_113486021_113555229	113543413	C C	CCCCCACC others(242): Show CCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCC TCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCTCCTCCCC CTGCCCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCC CCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCCCCCGCCCTCCCTC TGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03942.hp2 HG03688.hp1 HG03942.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0030 a0003c0002t0002g0067 a0003c0002t0002g0030 a0003c0002t0002g0067	2	368	0.0054	249	c.169 others(268): Show c.1691-3872_1691-3871insTTGCCCCCCCGCCCTCCCTCTGTCCG TGACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACC TCCTCCCCCTGCCCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCC CCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCCCCCGC CCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCT GTCCGTGACCCCACCTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129089236	G G	GGCGTCCT others(242): Show GGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGGCGTCCTCCATGA CCGGGATGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCA TGACCGGGTGTCCTCCCTGACCGGGGCGTCCTCCATGACCGGGGCGTCCT CCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGT CCTCCCTGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 HG02922.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0033 a0001c0001t0027g0094 a0001c0001t0002g0033 a0001c0001t0027g0094	2	94	0.0213	249	c.144 others(268): Show c.1444-4535_1444-4534insTCCCGGTCAGGGAGGACACCCGGTCA TGGAGGACACCCCGGTCAGGGAGGACACCCCGGTCATGGAGGACACCCCG GTCATGGAGGACACCCGGTCATGGAGGACGCCCCGGTCATGGAGGACGCC CCGGTCAGGGAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACA TCCCGGTCATGGAGGACATCCCGGTCATGGAGGACGCCCCGGTCATGGAG GACGCCCCGGTCATGGAGGACGC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113788047	A A	AGTGGGGA others(242): Show AGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGC AGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	260	0.0039	249	c.253 others(266): Show c.253-6945_253-6944insGTGGGGATGGGCAGAGGGGAAGGCGGAG GGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAG GGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGG GGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGG CGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGG CAGAGGGGAAGGCGGAGGGGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113788047	A A	AGTGGGGA others(242): Show AGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGGTGGGGATGGGC AGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0041 a0001c0001t0075g0041	1	260	0.0039	249	c.253 others(266): Show c.253-6914_253-6913insGTGGGGATGGGCAGAGGGGAAGGCGGAG GGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAG GGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGG GGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGG CGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGG CAGAGGGGAAGGCGGAGGGGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113788047	A A	AGTGGGGG others(242): Show AGTGGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGG GGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGG GATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGC GGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGC AGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0223 a0001c0001t0067g0223	1	260	0.0039	249	c.253 others(266): Show c.253-7095_253-7094insGATGGGCAGAGGGGAAGGCGGAGGGGGT GGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAA GGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATG GGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAG GGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAG GGGAAGGCGGAGGGGGTGGGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM51_chr1_15148747_15225478	15225218	G G	GGGGGAGG others(242): Show GGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGGGGAGGGAGAGGGAAG GGAGGGGAGGGAGGGGGAGGAAAGCAGAGGGGATGGGAGGAGGAGGGGGA GGGGACAGGAGGGAAGTGAGGGGGAGGGGATGTGAGGGGGGAGGGAGAGG GGAGGGGGAAGGGGAGGGTGAGGGAGGGGGAGGGGAGGGAGGGAGTGGGG GAGGGGAGAGGGGGAGGGGAGGGAGTGGGGGAGAGGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG04199.hp2 NA18979.hp1 others(2): Show HG02074.hp2 HG04199.hp2 NA18979.hp1 NA19005.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0201 a0001c0001t0001g0223 a0001c0001t0001g0233 others(2): Show a0001c0001t0001g0201 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0004g0074	5	298	0.0168	249	c.54 others(260): Show c.5475_*5476insGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGG GGAGGGAGAGGGAAGGGAGGGGAGGGAGGGGGAGGAAAGCAGAGGGGATG GGAGGAGGAGGGGGAGGGGACAGGAGGGAAGTGAGGGGGAGGGGATGTGA GGGGGGAGGGAGAGGGGAGGGGGAAGGGGAGGGTGAGGGAGGGGGAGGGG AGGGAGGGAGTGGGGGAGGGGAGAGGGGGAGGGGAGGGAGTGGGGGAGAG GGGGAGGGGAGGGGA	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding		4741		chr1	TogoVar
TMEM63C_chr14_77176798_77264495	77221009	T T	TCCCCTCC others(242): Show TCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCT CGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCA CTCTCGCCTCCCTTCCCACCCACGCCCCCTCACACTCACGCCTCCCCTCC CACTCTCGCCTCCCCTCCCACTCACGCCCCACCTCCCACTCACGCCTCCC CTCCCACTCACGCCCCGCCTCCCACTCACGCCCCGCCTCCCACTCACGCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	322	0.0031	249	c.312 others(264): Show c.312+950_312+951insTCTCGCCTCCCCTCCCACTCTCGCCTCCCC TCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCT CCCTTCCCACCCACGCCCCCTCACACTCACGCCTCCCCTCCCACTCTCGC CTCCCCTCCCACTCACGCCCCACCTCCCACTCACGCCTCCCCTCCCACTC ACGCCCCGCCTCCCACTCACGCCCCGCCTCCCACTCACGCCCCCCTCCCA CTCTCGCCTCCCCTCCCAC	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(242): Show TTATATATAAATATATTTTATATATTTATATATAAATATATATTTTTATA TATTTATATATAAATATATATTCTTTTATATATTTATATATATATTTATA TATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTA TATATTTATATATAAATATACTTTTATATATTTATATATAAATATATATT CTTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02622.hp2 HG02630.hp1 others(4): Show HG02165.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 NA18522.hp2 NA18987.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0057 a0001c0001t0003 a0001c0001t0011 a0001c0001t0057	a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0011g0227 others(4): Show a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0011g0227 a0001c0001t0011g0228 a0001c0001t0011g0231 a0001c0001t0011g0247 a0001c0001t0057g0215	7	348	0.0201	249	c.11 others(262): Show c.11218_*11219insTATATATAAATATATAAAAGAATATATATTTA TATATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGTA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAATATATATTTATATATAAATATATA AAATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMPRSS2_chr21_41459305_41513158	41474609	G G	GGTGGGTG others(242): Show GGTGGGTGAGGGGTGGGTGAGGGGATGAGGGAGTGATTCAGAGGGTGAAG GGGTGAGTGAGGGAGTGAAGGCATGATTGAGGGGGTGAAGGGGTGAGTGA GGGGGTGACTGAGGGGTGAAGGGGGGAGTGAGGAGGAGAGTGAGGGGGTG AAGGCATGAGTGAGGGGGTGAATGGGTGAGAGACGGGGTGAGTGAGGGGT GAAGGGATGAATGAGGGGGTAAGTAAGGGGTTGAGGGGGTGAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG01891.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0343 a0001c0004t0001g0209 a0001c0001t0001g0343 a0001c0004t0001g0209	2	382	0.0052	249	c.728 others(266): Show c.728-1114_728-1113insTCACCCCCTCACCCCCTCAACCCCTTAC TTACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCA TTCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCCC CCTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCAT GCCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATCC CCTCACCCACCCCTCACCCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2375572	C C	CAGGCCAG others(242): Show CAGGCCAGGGTCCAGTGTGGACCAATCACTGATGGGGATGGAGGGGTGGG AACTGTGATTGGCAGGCCAGGATCCAGTGTGGACCAATCACTGATGGGGA TGGAGGGGTGGGAACTTTGATTAGCAGGCCAGGGTCTAGTGTGGACCAAT CACTGATGGGGATGGAGGGGTGGGAACTGTGATTGGCAGGCCAGGGTCCA GTGTGGACCAATCACTGATGGGGATGGAGGGGGTGGACACTGTGATTGGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0098 a0002c0011t0001g0098	1	114	0.0088	249	c.-25 others(268): Show c.-25-14159_-25-14158insATGGGGATGGAGGGGTGGGAACTGTG ATTGGCAGGCCAGGATCCAGTGTGGACCAATCACTGATGGGGATGGAGGG GTGGGAACTTTGATTAGCAGGCCAGGGTCTAGTGTGGACCAATCACTGAT GGGGATGGAGGGGTGGGAACTGTGATTGGCAGGCCAGGGTCCAGTGTGGA CCAATCACTGATGGGGATGGAGGGGGTGGACACTGTGATTGGGAGGCCAG GGTCCAGTGTGGACCAATCACTG	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2375572	C C	CAGGCCAG others(242): Show CAGGCCAGGGTCCAGTGTGGACCAATCACTGATGGGGATGGAGGGGTGGG AACTGTGATTGGCAGGCCAGGGTCCAGTGTGGACCAATCACTGATGGGGA TGGAGGGGTGGGAACTTTGATTAGCAGGCCAGGGTCTAGTGTGGACCAAT CACTGATGGGGATGGAGGGGTGGGAACTGTGATTGGCAGGCCAGGGTCCA GTGTGGACCAATCACTGATGGGGATGGAGGGGGTGGACACTGTGATTGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp1 HG03540.hp1 HG02809.hp1 HG03453.hp1 HG03540.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0027 a0002c0002 a0008c0024 a0001c0027 a0002c0002 a0008c0024	a0001c0027t0002 a0002c0002t0001 a0008c0024t0002 a0001c0027t0002 a0002c0002t0001 a0008c0024t0002	a0001c0027t0002g0086 a0002c0002t0001g0059 a0008c0024t0002g0114 a0001c0027t0002g0086 a0002c0002t0001g0059 a0008c0024t0002g0114	3	114	0.0263	249	c.-25 others(268): Show c.-25-14159_-25-14158insATGGGGATGGAGGGGTGGGAACTGTG ATTGGCAGGCCAGGGTCCAGTGTGGACCAATCACTGATGGGGATGGAGGG GTGGGAACTTTGATTAGCAGGCCAGGGTCTAGTGTGGACCAATCACTGAT GGGGATGGAGGGGTGGGAACTGTGATTGGCAGGCCAGGGTCCAGTGTGGA CCAATCACTGATGGGGATGGAGGGGGTGGACACTGTGATTGGGAGGCCAG GGTCCAGTGTGGACCAATCACTG	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2375590	G G	GGACCAAT others(242): Show GGACCAATCACTGATGGGGATGGAGGGGTGGGAACTGTGATTGGCAGGCC AGGATCCAGTGTGGACCAATCACTGATGGGGATGGAGGGGTGGGAACTTT GATTAGCAGGCCAGGGTCTAGTGTGGACCAATCACTGATGGGGATGGAGG GGTGGGAACTGTGATTGGCAGGCCAGGGTCCAGTGTGGACCAATCACTGA TGGGGATGGAGGGGGTGGACACTGTGATTGGGAGGCCAGGGTCCAGTGTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0087 a0002c0011t0001g0087	1	114	0.0088	249	c.-25 others(268): Show c.-25-14159_-25-14158insATGGGGATGGAGGGGTGGGAACTGTG ATTGGCAGGCCAGGATCCAGTGTGGACCAATCACTGATGGGGATGGAGGG GTGGGAACTTTGATTAGCAGGCCAGGGTCTAGTGTGGACCAATCACTGAT GGGGATGGAGGGGTGGGAACTGTGATTGGCAGGCCAGGGTCCAGTGTGGA CCAATCACTGATGGGGATGGAGGGGGTGGACACTGTGATTGGGAGGCCAG GGTCCAGTGTAGACCAATCACTG	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(242): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG GAGGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGG GGGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	320	0.0031	249	c.612 others(264): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCC CCTTTCCTCCCCTCCCCCTCCCCCTCTTCTCTCCTCCCCTCTCCTCCCCT CTCCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCT CCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCT CCCCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGGTTA others(242): Show GGGGGTTAGGAAGGCTGGGGTTAGGGAGGCCAGGGGGTCAGGGAGACCAA GGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAG GGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGG AGGCCAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0104 a0001c0007t0001g0104	1	466	0.0022	249	c.50 others(260): Show c.5048_*5049insGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCC CTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCC CTGGCCTCCCTGACCCTTGGTCTCCCTGACCCCCTGGCCTCCCTAACCCC AGCCTTCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TPO_chr2_1408463_1548673	1422344	C C	CGACATTG others(242): Show CGACATTGTGCAGACGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCC TGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGACCTCGTGCAGCCGCC TCTCCTGGACAGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCA GGCGCCGCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTC GTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0066 a0003c0003t0005g0066	1	130	0.0077	249	c.95- others(262): Show c.95-698_95-697insATTGTGCAGACGCCGCGCTGGACAGACCTCGT GCAGGCGCCTCTCCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGAC CTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGCCGCCTCTCCTGG ACAGACCTCGTGCAGGCGCCGCGCTGGACCGACCTCGTGCAGCCGCCTCT CCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGC GCCTCTCCTGGACAGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBGCP3_chr13_112480011_112593153	112539838	G G	GCAGTAGC others(242): Show GCAGTAGCCTATGAGCATTCAGATGGTCTTGGGAAAGGATACCTGGGAAT GATGACATCAATGTAGTAGCCTATGAGCCTTCAGGTGGTCTTGGGAAAGG ACACCTGGGAATGAGGACGTCAATGTAGTAGCCTATGAGCCTTCAGGTGG TCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGCCCTATG AGCATTCAGATGATCTTGGGAAAGGACACCTGGGAATGAGGATGTCAATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	312	0.0032	249	c.133 others(268): Show c.1335+5860_1335+5861insTATTGACATCCTCATTCCCAGGTGTC CTTTCCCAAGATCATCTGAATGCTCATAGGGCTACTACATTGACGTCCTC ATTCCCAGGTGTCCTTTCCCAAGACCACCTGAAGGCTCATAGGCTACTAC ATTGACGTCCTCATTCCCAGGTGTCCTTTCCCAAGACCACCTGAAGGCTC ATAGGCTACTACATTGATGTCATCATTCCCAGGTATCCTTTCCCAAGACC ATCTGAATGCTCATAGGCTACTG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112540014	G G	GGACGTCA others(242): Show GGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGAT ACCTGGGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTC TTGGGAAAGGATACCTGGGAATGAGGACGTCAATGTAGTAGCCTATGAGC ATTCAGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATATAG TAGCCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 HG03098.hp1 HG01243.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0011g0266 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0011g0266	3	312	0.0096	249	c.133 others(268): Show c.1335+5684_1335+5685insATCACTCCCAGGTATCCTTTCCCAAG ACCACCTGAATGCTCATAGGGCTACTATATTGACGTCCTCATTCCCAGGT GTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACGTCC TCATTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACT ACATTGACGTCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGC TCATAGGCTACTACATTGACGTC	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112540018	G G	GTCAATGT others(242): Show GTCAATGTAGTAGCCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACC TGGGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTG GGAAAGGATACCTGGGAATGAGGACGTCAATGTAGTAGCCTATGAGCATT CAGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGATGTCAATGCAGTAG CCTATGAGCATTCAGATGGTCTTGGGAAAGGATACCTGGGAATGATGACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02976.hp1 others(1): Show HG01884.hp1 HG02895.hp1 HG02976.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0002 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0002g0111 a0001c0001t0002g0301 a0001c0001t0006g0086 others(1): Show a0001c0001t0002g0111 a0001c0001t0002g0301 a0001c0001t0006g0086 a0001c0003t0002g0153	4	312	0.0128	249	c.133 others(268): Show c.1335+5680_1335+5681insTGTCATCATTCCCAGGTATCCTTTCC CAAGACCATCTGAATGCTCATAGGCTACTGCATTGACATCCTCATTCCCA GGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACG TCCTCATTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCT ACTACATTGACGTCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGAA TGCTCATAGGGCTACTACATTGA	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
TWIST2_chr2_238843085_238915534	238870495	C C	CCCCCACA others(242): Show CCCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCATACACACCACACACCCCACACACACCACACACCCCCACACACACCA CACCCCATACACACCACACCCCCCCACACACCACACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCATACACACCACACACCCCACACACCACACACACACATCACATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	338	0.0030	249	c.35 others(268): Show c.35+21764_*35+21765insCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCATACACACCACACACCCCACACACAC CACACACCCCCACACACACCACACCCCATACACACCACACCCCCCCACAC ACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCATACACACCACACACCCCACAC ACCACACACACACATCACATACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233725219	G G	GGGAGAGG others(242): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	302	0.0033	249	c.856 others(268): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725219	G G	GGGAGAGG others(242): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0183 a0002c0002t0004g0183	1	350	0.0029	249	c.-39 others(260): Show c.-3908_-3907insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		3822		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725219	G G	GGGAGAGG others(242): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	332	0.0030	249	c.867 others(266): Show c.867+5533_867+5534insGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725219	G G	GGGAGAGG others(242): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	330	0.0030	249	c.867 others(268): Show c.867+11362_867+11363insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725219	G G	GGGAGAGG others(242): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	332	0.0030	249	c.861 others(268): Show c.861+31355_861+31356insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725219	G G	GGGAGAGG others(242): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0034 a0004c0005t0002g0034	1	320	0.0031	249	c.856 others(268): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233725219	G G	GGGAGAGG others(242): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	290	0.0035	249	c.856 others(268): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAG	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725219	G G	GGGAGAGG others(242): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	318	0.0031	249	c.856 others(268): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC5B_chr10_71207570_71307864	71296938	C C	CGGAGGTG others(242): Show CGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCACACTGG CGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCACACTGG CGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCACACTGG CGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCACGCTGG CGGAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACACCACTCTGGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02809.hp1 HG02922.hp1 others(2): Show HG01069.hp2 HG02809.hp1 HG02922.hp1 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0033 a0001c0006t0015 a0001c0006t0033	a0001c0006t0015g0011 a0001c0006t0015g0141 a0001c0006t0015g0167 others(2): Show a0001c0006t0015g0011 a0001c0006t0015g0141 a0001c0006t0015g0167 a0001c0006t0015g0169 a0001c0006t0033g0324	5	368	0.0136	249	c.249 others(266): Show c.2490+212_2490+213insTGGGGCAGATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACACCACT CTGGTGGAGGTGAGGGAAGGG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95197092	A A	AATATATA others(242): Show AATATATATTTATATATTATATTTATGTAATATATAATATATATTTATAT ATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAA TATATAATATATATTTATATATTATATTTATGTAATATATAATATATATT TATATATTATATTTATGTAATATATAATATATATTTATATATTATATTTA TGTAATATATAATATATATTTATATATTATATTTATGTAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp2 HG02895.hp1 others(1): Show HG01169.hp1 HG01192.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0012 a0001c0015 a0001c0012 a0001c0015	a0001c0012t0003 a0001c0015t0003 a0001c0012t0003 a0001c0015t0003	a0001c0012t0003g0044 a0001c0012t0003g0045 a0001c0015t0003g0188 others(1): Show a0001c0012t0003g0044 a0001c0012t0003g0045 a0001c0015t0003g0188 a0001c0015t0003g0189	4	204	0.0196	249	c.213 others(268): Show c.2136+5638_2136+5639insATATTATATATTACATAAATATAATA TATAAATATATATTATATATTACATAAATATAATATATAAATATATATTA TATATTACATAAATATAATATATAAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX3B_chrX_8459830_8471510	8466624	G G	GGTGTGTG others(242): Show GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0082 a0082	a0082c0034 a0082c0034	a0082c0034t0038 a0082c0034t0038	a0082c0034t0038g0060 a0082c0034t0038g0060	1	271	0.0037	249	c.24 others(258): Show c.241_*242insGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGA GGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGG GGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		115		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466784	G G	GGGGAGGG others(242): Show GGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0044 a0044	a0044c0047 a0044c0047	a0044c0047t0025 a0044c0047t0025	a0044c0047t0025g0031 a0044c0047t0025g0031	1	271	0.0037	249	c.40 others(258): Show c.401_*402insGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGT GGGGAGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		275		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466846	A A	AGGGAGGG others(242): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	249	c.46 others(258): Show c.463_*464insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		337		chrX	TogoVar
VSIG10L_chr19_51326541_51347139	51345864	T T	TGAACCCT others(242): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCC TCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGA TGCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCCTA TAGGCTGAGATGATGCGCTGAACCCTCCCTATAGACTGAGATGATGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02148.hp1 HG02630.hp2 others(12): Show HG00621.hp2 HG02148.hp1 HG02630.hp2 NA18940.hp1 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18979.hp2 NA18985.hp1 NA18993.hp2 NA18995.hp1 NA19054.hp1 NA19067.hp2 NA19082.hp2	a0000 a0002 a0000 a0002	a0000c0003 a0000c0007 a0000c0017 others(2): Show a0000c0003 a0000c0007 a0000c0017 a0000c0027 a0002c0016	a0000c0003t0001 a0000c0007t0001 a0000c0017t0001 others(2): Show a0000c0003t0001 a0000c0007t0001 a0000c0017t0001 a0000c0027t0003 a0002c0016t0001	a0000c0003t0001g0003 a0000c0007t0001g0008 a0000c0007t0001g0041 others(5): Show a0000c0003t0001g0003 a0000c0007t0001g0008 a0000c0007t0001g0041 a0000c0007t0001g0042 a0000c0007t0001g0043 a0000c0017t0001g0045 a0000c0027t0003g0106 a0002c0016t0001g0044	15	452	0.0332	249	c.-37 others(260): Show c.-3741_-3740insTGCGCATCATCTCAGTCTATAGGGAGGGTTCAGC GCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATA GGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGC CTATAGGGAGGGTTC	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3726		chr19	TogoVar
ZFPM1_chr16_88448280_88542031	88501629	G G	GTGCGTGG others(242): Show GTGCGTGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGCAGACATG GGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACA TGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0027 a0002c0002t0013g0027	1	318	0.0031	249	c.268 others(268): Show c.268+12476_268+12477insTGCGTGGGCTCTCCCGCAGGTACTGG TGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGCTG GTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGCT GGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTG CTGGTGATGATGGAGATAGCAGA	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9			chr16	TogoVar
ZFR2_chr19_3799024_3874038	3820818	C C	CACACTAG others(242): Show CACACTAGAGGTCGGGGGACACAGGGACACCGGGGGTCGGGGGACACAGG GACACTAGAGGTCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGG GACACTAGAGGTCGGGGGACACAGGGACACCGGGGGTCGGGGGACACAGG GACACTAGAGGTCGGGGGACACAGGGACACTAGAGGTCGGGGACACAGGG ACACTAGAGGTCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(83): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02486.hp1 HG02683.hp1 HG02738.hp1 HG03239.hp1 HG03491.hp1 HG03654.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19007.hp2 NA19011.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1	a0002 a0004 a0006 others(3): Show a0002 a0004 a0006 a0021 a0022 a0023	a0002c0002 a0002c0021 a0002c0028 others(5): Show a0002c0002 a0002c0021 a0002c0028 a0004c0005 a0006c0008 a0021c0026 a0022c0025 a0023c0024	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(12): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0010 a0002c0002t0022 a0002c0021t0001 a0002c0028t0010 a0004c0005t0001 a0004c0005t0002 a0006c0008t0001 a0021c0026t0001 a0022c0025t0003 a0023c0024t0002	a0002c0002t0001g0005 a0002c0002t0001g0066 a0002c0002t0001g0317 others(82): Show a0002c0002t0001g0005 a0002c0002t0001g0066 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0323 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0331 a0002c0002t0001g0334 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0342 a0002c0002t0001g0344 a0002c0002t0001g0347 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0353 a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0366 a0002c0002t0001g0370 a0002c0002t0001g0373 a0002c0002t0001g0374 a0002c0002t0001g0375 a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0379 a0002c0002t0001g0380 a0002c0002t0001g0381 a0002c0002t0001g0384 a0002c0002t0001g0385 a0002c0002t0001g0386 a0002c0002t0002g0092 a0002c0002t0002g0325 a0002c0002t0002g0329 a0002c0002t0002g0336 a0002c0002t0002g0341 a0002c0002t0002g0346 a0002c0002t0002g0348 a0002c0002t0002g0354 a0002c0002t0002g0369 a0002c0002t0002g0371 a0002c0002t0002g0372 a0002c0002t0002g0383 a0002c0002t0003g0127 a0002c0002t0003g0129 a0002c0002t0003g0320 a0002c0002t0003g0324 a0002c0002t0003g0343 a0002c0002t0003g0345 a0002c0002t0003g0352 a0002c0002t0003g0358 a0002c0002t0003g0362 a0002c0002t0003g0363 a0002c0002t0003g0364 a0002c0002t0003g0365 a0002c0002t0003g0388 a0002c0002t0004g0177 a0002c0002t0004g0321 a0002c0002t0004g0357 a0002c0002t0005g0126 a0002c0002t0005g0128 a0002c0002t0005g0131 a0002c0002t0010g0164 a0002c0002t0010g0356 a0002c0002t0022g0367 a0002c0021t0001g0387 a0002c0028t0010g0355 a0004c0005t0001g0188 a0004c0005t0001g0190 a0004c0005t0001g0191 a0004c0005t0001g0199 a0004c0005t0001g0207 a0004c0005t0001g0225 a0004c0005t0002g0198 a0006c0008t0001g0162 a0006c0008t0001g0163 a0006c0008t0001g0165 a0006c0008t0001g0166 a0021c0026t0001g0340 a0022c0025t0003g0333 a0023c0024t0002g0330	86	398	0.2161	249	c.163 others(266): Show c.1631+521_1631+522insCCCTGTGTCCCCCGACCTCTAGTGTCCC TGTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCGACCTCTAGTGTCCCT GTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCCCCGGTGTCCCT GTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCTCTAGTGTCCCT GTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCCCCGGTGTCCCT GTGTCCCCCGACCTCTAGTGT	ZFR2	ENSG00000105278.12	transcript	ENST00000262961.9	protein_coding	10/18			chr19	TogoVar
ZFR2_chr19_3799024_3874038	3820818	C C	CACACTAG others(242): Show CACACTAGAGGTCGGGGGACACAGGGACACCGGGGGTCGGGGGACATAGG GACACTAGAGGTCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGG GACACTAGAGGTCGGGGGACACAGGGACACCGGGGGTCGGGGGACACAGG GACACTAGAGGTCGGGGGACACAGGGACACTAGAGGTCGGGGACACAGGG ACACTAGAGGTCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGGG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0378 a0002c0002t0001g0378	1	398	0.0025	249	c.163 others(266): Show c.1631+521_1631+522insCCCTGTGTCCCCCGACCTCTAGTGTCCC TGTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCGACCTCTAGTGTCCCT GTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCCCCGGTGTCCCT GTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCTCTAGTGTCCCT GTGTCCCCCGACCTCTAGTGTCCCTATGTCCCCCGACCCCCGGTGTCCCT GTGTCCCCCGACCTCTAGTGT	ZFR2	ENSG00000105278.12	transcript	ENST00000262961.9	protein_coding	10/18			chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(242): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATATATC ATATATATCACATATATGATATATATCATATATATCACATATATGATATA TATATCATATATCACATATATGATATATATATCATATATCACATATATGA TATATATATCATATATCACATATATGATATATATATCATATATCACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	2	350	0.0057	249	c.-36 others(260): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATATATCATATATATCACATATATGATATATATCATATATAT CACATATATGATATATATATCATATATCACATATATGATATATATATCAT ATATCACATATATGATATATATATCATATATCACATATATGATATATATA TCATATATCACATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ABHD12B_chr14_50867053_50909970	50870957	A A	AAGAAAGA others(243): Show AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0219 a0001c0006t0001g0219	1	376	0.0027	250	c.-12 others(261): Show c.-1218_-1217insAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAG AGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAA AGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG AGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1095		chr14	TogoVar
ABR_chr17_998519_1184981	1173060	A A	ACCCCCCC others(243): Show ACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCAACA CATCACCTCAGTCAACGCAACACATCACCTCAGTCCACTCAACACATCAC CTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCAC C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0161 a0001c0001t0020g0161	1	337	0.0030	250	c.61+ others(265): Show c.61+6606_61+6607insGGTGGACTGAGGTGATGTGTGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGT GTTGCGTTGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGG GGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGGGGGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109209995	A A	ATGTATAT others(243): Show ATGTATATATACACATACACACACGTGTGTGTATATATGTATATATACAC ACATATATGTGTATATATGTGTATACACACACATATATGTGTATACACAC ATACATGCATGTGTGTATATATGTGTATATACACACACATACATGCATGT GTGTATATACACACACATACATGCATGTGTGTATATATGTGTATATATAC ACACATACGTATGTGTGTATATATGTGTATATATACACACATACGTATGT G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03195.hp1 HG03540.hp1	a0007 a0039 a0007 a0039	a0007c0057 a0039c0080 a0007c0057 a0039c0080	a0007c0057t0004 a0039c0080t0010 a0007c0057t0004 a0039c0080t0010	a0007c0057t0004g0207 a0039c0080t0010g0071 a0007c0057t0004g0207 a0039c0080t0010g0071	2	308	0.0065	250	c.324 others(267): Show c.3249+645_3249+646insATATATACACATACACACACGTGTGTGT ATATATGTATATATACACACATATATGTGTATATATGTGTATACACACAC ATATATGTGTATACACACATACATGCATGTGTGTATATATGTGTATATAC ACACACATACATGCATGTGTGTATATACACACACATACATGCATGTGTGT ATATATGTGTATATATACACACATACGTATGTGTGTATATATGTGTATAT ATACACACATACGTATGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109209995	A A	ATGTATAT others(243): Show ATGTATATATACACATACACACACGTGTGTGTATATATGTATATATACAC ATACACACACGTGTGTGTATATATGTATATATACACACATATATGTGTAT ATATGTGTATACACACACATATATGTGTATACACACATACATGCATGTGT GTATATATGTGTATATACACACACATACATGCATGTGTGTATATACACAC ACATACATGCATGTGTGTATATATGTGTATATATACACACATACGTATGT G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0035 a0035	a0035c0076 a0035c0076	a0035c0076t0010 a0035c0076t0010	a0035c0076t0010g0267 a0035c0076t0010g0267	1	308	0.0033	250	c.324 others(267): Show c.3249+645_3249+646insATATATACACATACACACACGTGTGTGT ATATATGTATATATACACATACACACACGTGTGTGTATATATGTATATAT ACACACATATATGTGTATATATGTGTATACACACACATATATGTGTATAC ACACATACATGCATGTGTGTATATATGTGTATATACACACACATACATGC ATGTGTGTATATACACACACATACATGCATGTGTGTATATATGTGTATAT ATACACACATACGTATGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289073	C C	CCGTGTCT others(243): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0168 a0001c0011t0001g0168	1	295	0.0034	250	c.44 others(261): Show c.4490_*4491insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGA GACACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGG ACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3317		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(243): Show GGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGA GGGAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAG GGGAGGGAAGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGA AGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGA GAGGGAGGGAGGTGGGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG06807.hp2 HG02615.hp1 HG02630.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	366	0.0082	250	c.-50 others(261): Show c.-5004_-5003insGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAG GGAAGGAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAG GGAGGGCAGGAGGAGGGGAGGGAAGGAGGAAGGGAAGAAGGGAGGGGAGA GGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGA GGGAGGAAGCGAGGAGAGGGAGGGAGGTGGGAGGGAGGGAGGATGGTGGG AGGGAGGGAGGGGGGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179313882	A A	ACACACAC others(243): Show ACACACACACCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCA GAGGGGACGCACACGCATTCACACTCGTGCACACACACACTCACACCGAG ACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACAA GCATTCACACTCATGCACACACACACTCACACCGAGACAGAGGAGGGCCT GGCCGGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCAT G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01346.hp1 HG02486.hp1 others(1): Show HG00323.hp2 HG01346.hp1 HG02486.hp1 NA20805.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0004 a0002c0002 a0005c0077 others(1): Show a0001c0004 a0002c0002 a0005c0077 a0006c0009	a0001c0004t0001 a0002c0002t0001 a0005c0077t0017 others(1): Show a0001c0004t0001 a0002c0002t0001 a0005c0077t0017 a0006c0009t0005	a0001c0004t0001g0190 a0002c0002t0001g0114 a0005c0077t0017g0135 others(1): Show a0001c0004t0001g0190 a0002c0002t0001g0114 a0005c0077t0017g0135 a0006c0009t0005g0043	4	276	0.0145	250	c.534 others(269): Show c.534+29884_534+29885insCATGAGTGTGAATGCGTGTGCGTCCC CTCTGCTGACACCCCTGCTCCGGCCAGGCCCTCCTCTGTCTCGGTGTGAG TGTGTGTGTGCATGAGTGTGAATGCTTGTGCGTCCCCTCTGCTGACACCC CTGCTCTGGCCAGGCCCTCCTCTGTCTCGGTGTGAGTGTGTGTGTGCACG AGTGTGAATGCGTGTGCGTCCCCTCTGCTGACACCCCTGCTCTGGCCAGG CCCTCCTCTGTCTCGGTGTGTGTG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADGRB3_chr6_68630282_69394506	69076628	C C	CAAAATCA others(243): Show CAAAATCACCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	120	0.0083	250	c.248 others(267): Show c.2480+599_2480+600insGGCTAAAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATCACC	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(243): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0014 a0003c0003t0002g0014	1	218	0.0046	250	c.32- others(263): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AHRR_chr5_316714_443285	345201	T T	TGTGTGTG others(243): Show TGTGTGTGTGTGTGTCGGATGATGTCCCTGGCTGTGTGTGGGGATGTGTG TGTGGGGAGAGGGGTGGGTGGGTGTGTGTGTCGGATGATGTCCCTGGCTG TGTGTGGGGATGTGTGTGTGTGTGTGTGGGGGGGGGGATGTGTGTGTGTG TGTCAGATGATGTCCCTGGCTGTGTGTGGGGATGTGTGTGTGTGTGTGTG TGTCGGATGATGTCCCTGGCTGTGTGTGTGTGTGGGTGTGTGTGTGTGTG G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01169.hp1 HG00735.hp2 HG01081.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260	3	268	0.0112	250	c.62+ others(265): Show c.62+1251_62+1252insCGGATGATGTCCCTGGCTGTGTGTGGGGAT GTGTGTGTGGGGAGAGGGGTGGGTGGGTGTGTGTGTCGGATGATGTCCCT GGCTGTGTGTGGGGATGTGTGTGTGTGTGTGTGGGGGGGGGGATGTGTGT GTGTGTGTCAGATGATGTCCCTGGCTGTGTGTGGGGATGTGTGTGTGTGT GTGTGTGTCGGATGATGTCCCTGGCTGTGTGTGTGTGTGGGTGTGTGTGT GTGTGGGTGTGTGTGTGTGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	345201	T T	TGTGTGTG others(243): Show TGTGTGTGTGTGTGTCGGATGATGTCCCTGGCTGTGTGTGGGGATGTGTG TGTGGGGAGAGGGGTGGGTGGGTGTGTGTGTCGGATGATGTCCCTGGCTG TGTGTGGGGATGTGTGTGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTG TGTCAGATGATGTCCCTGGCTGTGTGTGGGGATGTGTGTGTGTGTGTGTG TGTCGGATGATGTCCCTGGCTGTGTGTGTGTGTGGGTGTGTGTGTGTGTG G	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp1 HG02451.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0256 a0002c0002t0001g0255 a0001c0001t0001g0256 a0002c0002t0001g0255	2	268	0.0075	250	c.62+ others(265): Show c.62+1251_62+1252insCGGATGATGTCCCTGGCTGTGTGTGGGGAT GTGTGTGTGGGGAGAGGGGTGGGTGGGTGTGTGTGTCGGATGATGTCCCT GGCTGTGTGTGGGGATGTGTGTGTGTGTGTGTGTGGGGGGGGATGTGTGT GTGTGTGTCAGATGATGTCCCTGGCTGTGTGTGGGGATGTGTGTGTGTGT GTGTGTGTCGGATGATGTCCCTGGCTGTGTGTGTGTGTGGGTGTGTGTGT GTGTGGGTGTGTGTGTGTGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT2_chr19_40225317_40290345	40248733	C C	CAGAGAGG others(243): Show CAGAGAGGAGTGCAGGAGATGAGGACAGGGAGGAGTGGAGGAGATGAGGA CAGGGAGGAGTGGAGGAGATGAGGACAGGGAGGAGTGGAGGAGATGAGGA CAGAGAGGAGTGCAGGAGATGAGGACAGGGAGGAGTGGAGGAGATGAGGA CAGGGAGGAGTGGAGGAGATGAGGAGAGAGAGGAGTGCAGGAGATGAGGA CAGGGAGGAGTGGAGGAGATGAGGACAGGGAGGAGTGGAGGAGATGAGGA G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02280.hp1 others(8): Show HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02630.hp2 HG02895.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0259 a0001c0001t0001g0260 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271	11	360	0.0306	250	c.287 others(267): Show c.287+6175_288-6047dupCTCCTCATCTCCTCCACTCCTCCCTGTC CTCATCTCCTCCACTCCTCCCTGTCCTCATCTCCTGCACTCCTCTCTCTC CTCATCTCCTCCACTCCTCCCTGTCCTCATCTCCTCCACTCCTCCCTGTC CTCATCTCCTGCACTCCTCTCTGTCCTCATCTCCTCCACTCCTCCCTGTC CTCATCTCCTCCACTCCTCCCTGTCCTCATCTCCTCCACTCCTCCCTGTC CTCATCTCCTGCACTCCTCTCT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	4/13			chr19	TogoVar

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