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
FOXN3_chr14_89151177_89422233	89360891	ACCACCAC others(113): Show ACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCAC CACCTCCACCACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCA GCACCACCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0184 a0001c0001t0040g0184	1	230	0.0044	-120	c.544 others(19): Show c.544-10203_544-10084del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361140	TCCACCAC others(113): Show TCCACCACCACCACCTCCAGCACTACCTCCAGCACCACCTCCACCACCAC CACCTCCAGCACCACCACCACCACCTCCACCACCACCACCTCCACCACCA CCACCTCCAGCACCACCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0185 a0001c0001t0014g0185	1	230	0.0044	-120	c.544 others(19): Show c.544-10452_544-10333del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361757	CCACCTCC others(113): Show CCACCTCCACCACCACCACCTCCAGCACCACCACCTCCACCACCACCACC TCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTAC CTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	230	0.0044	-120	c.544 others(19): Show c.544-11069_544-10950del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361811	CCACCACC others(113): Show CCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCC ACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCAC CTCCAGCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0138 a0001c0001t0018g0138	1	230	0.0044	-120	c.544 others(19): Show c.544-11123_544-11004del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361827	CACCTCCA others(113): Show CACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCA GCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACC TCCAGCACCACCTCCACCACT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0031 a0001c0001t0026g0031	1	230	0.0044	-120	c.544 others(19): Show c.544-11139_544-11020del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362279	CCACCACC others(113): Show CCACCACCACCTCCACCACCACCACCACCACCTCCAGCACCACCTCTACC ACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCCACCACCAC CTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0161 a0001c0001t0061g0161	1	230	0.0044	-120	c.544 others(19): Show c.544-11591_544-11472del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRMD1_chr6_168048095_168084212	168078675	TGGCTCTG others(113): Show TGGCTCTGCTCACCCCCACAGCCCTGCTCACCCCTATGGCCACCCAGGGC CCTCCTCACCCCCATGGCTCTGTTTACTCCCAAGGCCATCCAGGGCCCTG CTCACCCCCACGGCCACCCAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0054 a0001c0004t0054	a0001c0004t0054g0102 a0001c0004t0054g0102	1	402	0.0025	-120	c.213 others(14): Show c.213+87_213+206del	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FTCD_chr21_46131779_46160579	46134437	CAGGTTTA others(113): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGG GTGAGGGTGAGGGTGAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0122 a0001c0002t0006g0122	1	230	0.0044	-120	c.24 others(11): Show c.2430_*2549del	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2341		chr21	TogoVar
GALNT9_chr12_132191372_132334589	132213111	TTCAGACC others(113): Show TTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTC GACACGGAAACCCCACCCGGGTCTGCAGCCTTCAGACCTCGACACGGAAA CCCCACCCGGTTCTGCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01243.hp1 others(5): Show HG00733.hp1 HG01175.hp2 HG01243.hp1 HG02735.hp2 HG03017.hp1 HG03688.hp1 HG03942.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0018 a0001c0021 a0001c0043	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0018t0001 a0001c0021t0004 a0001c0043t0015	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0018t0001g0047 a0001c0021t0004g0155 a0001c0043t0015g0178	8	183	0.0437	-120	c.107 others(19): Show c.1078-9541_1078-9422del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GATA5_chr20_62458497_62480995	62476916	TCTTTCTT others(113): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTT TTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAG TTCTTTTTTCTTTCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02738.hp1 HG03942.hp1 HG02257.hp1 HG02738.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0003 a0001c0004t0007 a0001c0002t0001 a0001c0004t0003 a0001c0004t0007	a0001c0002t0001g0288 a0001c0004t0003g0289 a0001c0004t0007g0283 a0001c0002t0001g0288 a0001c0004t0003g0289 a0001c0004t0007g0283	3	382	0.0079	-120	c.-11 others(11): Show c.-1128_-1009del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		922		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476974	TCGGAGCA others(113): Show TCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTT TCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02897.hp2 HG02818.hp1 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0070 a0001c0004t0003g0071 a0001c0004t0003g0070 a0001c0004t0003g0071	2	382	0.0052	-120	c.-11 others(11): Show c.-1186_-1067del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		980		chr20	TogoVar
GDF2_chr10_47317454_47332588	47329272	GGTGTGTG others(113): Show GGTGTGTGCACACTGGGGTGAGTGACGTGGTGTGTGCACACAGAGGGGGG TGAGTGATGTGGTGTGTGCACACTGGGGTGAGTGACGTGGTGTGTGCACA CTGAGGGGGGTGAGTGATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02145.hp2 others(5): Show HG01167.hp1 HG02055.hp1 HG02145.hp2 HG02647.hp2 HG03098.hp2 HG03130.hp1 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0012 a0001c0001t0009g0006 a0001c0001t0009g0012	8	424	0.0189	-120	c.34 others(11): Show c.3489_*3608del	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1685		chr10	TogoVar
GET4_chr7_871554_901436	889853	TAGGACGG others(113): Show TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02723.hp2 HG03098.hp2 others(2): Show HG00733.hp2 HG02723.hp2 HG03098.hp2 HG03130.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0002 a0001c0010t0025 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0010t0025 a0001c0010t0026 a0001c0010t0028	a0001c0001t0001g0234 a0001c0002t0002g0043 a0001c0010t0025g0053 others(2): Show a0001c0001t0001g0234 a0001c0002t0002g0043 a0001c0010t0025g0053 a0001c0010t0026g0052 a0001c0010t0028g0051	5	384	0.0130	-120	c.467 others(16): Show c.467-1006_467-887del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890277	CGTGAGCG others(113): Show CGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACG GGGTCTGGGAGTGGAGGGAGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG01243.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0055 a0001c0001t0014g0054 a0001c0001t0014g0055	2	384	0.0052	-120	c.467 others(15): Show c.467-638_467-519del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GGT1_chr22_24598193_24633996	24605156	ATATTATA others(113): Show ATATTATATATTATATAATATGTAATATATTATATAATATATAATATGTA TTATATTATATATTATATAATATGTATTATATTATATATTATATAATATG TATTATATATTATATAATATG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp1 HG02818.hp2 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0281 a0002c0002t0001g0287 a0002c0002t0001g0281 a0002c0002t0001g0287	2	426	0.0047	-120	c.-42 others(19): Show c.-429+1653_-429+1772del	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GOLGA3_chr12_132763914_132833869	132792818	CCACTCGG others(113): Show CCACTCGGAGGGCTCCACACGGACCGACCACACGGGACCTGCACTCGGAG GGCTCCACACAGACCCACCACACGGGATCTGCACTCGGAGGGCCCCACAC AGACCCACCCCACGGGACCTG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0053 a0002c0002t0003 a0002c0002t0053	a0002c0002t0003g0240 a0002c0002t0053g0239 a0002c0002t0003g0240 a0002c0002t0053g0239	2	308	0.0065	-120	c.247 others(19): Show c.2470-1645_2470-1526del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793118	AGACCCAC others(113): Show AGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG CACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC GCACTCGGAGGGCTCCACACT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0080 a0008c0015t0080	a0008c0015t0080g0065 a0008c0015t0080g0065	1	308	0.0033	-120	c.247 others(19): Show c.2470-1945_2470-1826del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132793607	GCACGGGA others(113): Show GCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGA GGGCTCCACACAGACCCACCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	308	0.0033	-120	c.246 others(19): Show c.2469+2125_2469+2244del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GP1BB_chr22_19718539_19729771	19726614	CGCGGTGA others(113): Show CGCGGTGAGGACGCTGTGGACGCCGTGAGGACGCTGTGGGGGCGGTGAGG ACGCTGTCGGGGCGGTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGA CGCGGCGAGGGCGCTGTCGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18975.hp1 NA18961.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	410	0.0049	-120	c.21 others(11): Show c.2151_*2270del	GP1BB	ENSG00000203618.6	transcript	ENST00000366425.4	protein_coding		1844		chr22	TogoVar
GRB10_chr7_50585068_50787896	50586897	TGTCCACG others(113): Show TGTCCACGTGTGAGTACACAGCTACGGCAGAGTGGATCTGCACCCACGTG TGAGTACACAGCTACAGCAGAGTGGATCTGCACCCACGTGTGAGTACACA GCTACGGCAGAGTGGATCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	278	0.0036	-120	c.59 others(11): Show c.5935_*6054del	GRB10	ENSG00000106070.20	transcript	ENST00000401949.6	protein_coding		3170		chr7	TogoVar
GRIN2B_chr12_13532337_13986602	13595637	TCTTGCCT others(113): Show TCTTGCCTCAGCATCAGAGGGTTAAAACAATTCCTCTAGCAGCAGCCTCT CCTCATTAGCAACCTGGAATCATTGCAGTGCTGAAGGCTGCATTGTTCTT CAGCACTTGAATACAATTTGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0088 a0001c0004t0088	a0001c0004t0088g0062 a0001c0004t0088g0062	1	194	0.0052	-120	c.201 others(21): Show c.2010+12846_2010+12965del	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	10/13			chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346401	TGAGCAGA others(113): Show TGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACC TCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCAAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	288	0.0035	-120	c.466 others(17): Show c.466-1562_466-1443del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346411	TGGGAAGA others(113): Show TGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACA AGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACC TCTGTGGCAAAGAGCAGACCC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01978.hp2 HG02004.hp1 HG01261.hp1 HG01978.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0107	3	288	0.0104	-120	c.466 others(17): Show c.466-1572_466-1453del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346578	CCGAGAAC others(113): Show CCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGAT CTGGGAGGACCTCTGTGGCAG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18946.hp2 HG01074.hp2 NA18946.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0013 a0001c0001 a0016c0013	a0001c0001t0001 a0016c0013t0001 a0001c0001t0001 a0016c0013t0001	a0001c0001t0001g0017 a0016c0013t0001g0056 a0001c0001t0001g0017 a0016c0013t0001g0056	2	288	0.0069	-120	c.466 others(17): Show c.466-1739_466-1620del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346763	CGGACCTG others(113): Show CGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTG TGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGG AGGACCTCTGTGCCTGACAGT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03195.hp1 NA18970.hp1 HG01952.hp1 HG03195.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0217 a0001c0001t0001g0237 a0001c0001t0001g0114 a0001c0001t0001g0217 a0001c0001t0001g0237	3	288	0.0104	-120	c.466 others(17): Show c.466-1924_466-1805del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347125	CGGGAGGA others(113): Show CGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAG AGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACC TCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01975.hp2 HG02273.hp2 others(7): Show HG01261.hp1 HG01975.hp2 HG02273.hp2 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02895.hp2 HG03130.hp2 HG03486.hp2 NA18950.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0017	a0001c0001 a0003c0003 a0003c0020 others(2): Show a0001c0001 a0003c0003 a0003c0020 a0008c0006 a0017c0010	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(3): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0003c0020t0001 a0008c0006t0001 a0017c0010t0001	a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0117 others(7): Show a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0117 a0003c0003t0001g0281 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0002g0282 a0003c0020t0001g0285 a0008c0006t0001g0041 a0017c0010t0001g0007	10	288	0.0347	-120	c.466 others(17): Show c.466-2286_466-2167del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347143	AGAGAGCA others(113): Show AGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGA CCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGA CCTGGGAGGACCTCTGTGGCT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	288	0.0035	-120	c.466 others(17): Show c.466-2304_466-2185del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347341	CCTCTGTG others(113): Show CCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGA CCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGC TGAGAGCAGACCCAGGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0243 a0013c0014t0001g0243	1	288	0.0035	-120	c.466 others(17): Show c.466-2502_466-2383del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347399	GACCTCTG others(113): Show GACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCA GACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGTG GCCGAGAGCGGACCCAGGAGC	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0278 a0002c0002t0001g0278	1	288	0.0035	-120	c.466 others(17): Show c.466-2560_466-2441del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GTPBP4_chr10_983434_1024932	1016759	ATAACTGT others(113): Show ATAACTGTGCTGGGCTTAAGAGAAAAGAGATGTAACAGGGATAACTGTGC TGGGCTTAAGAGAAAAGAGATGTAACAGGGGTAACTGTGCTGGGCTTAAG AGAAAAGAGATGTAACAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02965.hp1 others(3): Show HG02647.hp2 HG02809.hp1 HG02965.hp1 HG03098.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0027 a0001c0002t0038 a0001c0002t0013 a0001c0002t0027 a0001c0002t0038	a0001c0002t0013g0020 a0001c0002t0013g0021 a0001c0002t0013g0099 others(2): Show a0001c0002t0013g0020 a0001c0002t0013g0021 a0001c0002t0013g0099 a0001c0002t0027g0104 a0001c0002t0038g0021	6	370	0.0162	-120	c.175 others(17): Show c.1753-236_1753-117del	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GYG2_chrX_2823930_2887818	2827053	CACTCATA others(113): Show CACTCATACATGCATGCACTCACACCATCATCACTCATTCAACTCATACA TGCATGCCCTCACACAGTCATCACTCATTCAACTCATACATGCATGCCCT CACACAGTCATCACTCATTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA19030.hp2 HG03195.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0007 a0002c0002t0005 a0002c0002t0007	a0002c0002t0005g0117 a0002c0002t0007g0188 a0002c0002t0005g0117 a0002c0002t0007g0188	2	316	0.0063	-120	c.-20 others(11): Show c.-2050_-1931del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding		1876		chrX	TogoVar
HACE1_chr6_104723094_104864919	104727475	ATATGTAT others(113): Show ATATGTATATGAATACACACACACATATGTATATGAATACACACACACGT ATGTATATGAATACACACACACGTATGTATATGAATACACACACACGTAT GTATATGAATACACACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	346	0.0029	-120	c.20 others(11): Show c.2067_*2186del	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		618		chr6	TogoVar
HACE1_chr6_104723094_104864919	104727499	ATATGTAT others(113): Show ATATGTATATGAATACACACACACGTATGTATATGAATACACACACACGT ATGTATATGAATACACACACACGTATGTATATGAATACACACACACGTAT GTATATGAATACACACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03927.hp2 HG03540.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0041 a0001c0002t0001g0095 a0001c0001t0002g0041 a0001c0002t0001g0095	2	346	0.0058	-120	c.20 others(11): Show c.2043_*2162del	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		594		chr6	TogoVar
HAUS6_chr9_19048141_19107904	19068254	CCAGGTCC others(113): Show CCAGGTCCTCAGAGAAGATTTCATTATTTTTCTTTAGGCACTCAAAAAAT TAACATCAAATCCAGATAGACTAAAATATGGTTCTTCCACAACTAGTCCT GACTGCCTGTGAACTAGATTA	C C	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19072.hp2 NA19089.hp1 NA19066.hp1 NA19072.hp2 NA19089.hp1	a0002 a0024 a0002 a0024	a0002c0003 a0024c0030 a0002c0003 a0024c0030	a0002c0003t0005 a0024c0030t0005 a0002c0003t0005 a0024c0030t0005	a0002c0003t0005g0332 a0002c0003t0005g0360 a0024c0030t0005g0340 a0002c0003t0005g0332 a0002c0003t0005g0360 a0024c0030t0005g0340	3	406	0.0074	-120	c.137 others(19): Show c.1376+1845_1376+1964del	HAUS6	ENSG00000147874.11	transcript	ENST00000380502.8	protein_coding	12/16			chr9	TogoVar
HDHD5_chr22_17132520_17164277	17147357	GCACTCCT others(113): Show GCACTCCTGTGAGCTTACCGGCCTTCGATCACATGCCATCGCACACGCCC CACACCTGCGACGCCCTCCTGTGAGCTTACCGGCCTTCACATGCCATCGC ACACGCTCCACACCTGTGGCA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	422	0.0024	-120	c.443 others(16): Show c.443+971_443+1090del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
HHAT_chr1_210323902_210681290	210465849	TATTGCAA others(113): Show TATTGCAAGGAATTGCAAGGAATGAATTGCAAGGAATTGCAAGGAATGAA TTGCAAGGAATTGCAAGGAATGAATTGCAAGGAATTGCAAGGAATGAATT GCAAGGAATTGCAAGGAATGA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01081.hp2 others(13): Show HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01192.hp2 HG01981.hp2 HG02145.hp1 HG02293.hp1 HG02602.hp1 HG02717.hp1 HG03704.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0004 a0002c0003t0003 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0006 a0003c0004t0017 a0003c0007t0002 a0003c0007t0004	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0003g0152 others(13): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0003g0152 a0001c0001t0008g0004 a0001c0002t0004g0140 a0002c0003t0003g0236 a0003c0004t0001g0044 a0003c0004t0001g0110 a0003c0004t0001g0118 a0003c0004t0003g0002 a0003c0004t0003g0137 a0003c0004t0004g0139 a0003c0004t0006g0136 a0003c0004t0017g0134 a0003c0007t0002g0169 a0003c0007t0004g0133	16	268	0.0597	-120	c.100 others(19): Show c.1007+1337_1007+1456del	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130277908	CACCACCA others(113): Show CACCACCACCACCATCATCATCATCACCACCACCATCATCATCATCACCA CCACCACCACCATCATCATCACCACCACCACGATCATCACCACCACCACC ATCATCATCACCACCACCACG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(74): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0037 a0038 a0039 a0043 a0044 a0045 a0047 a0048 a0049 a0052 a0053 a0054 a0056 a0057 a0059 a0060 a0062 a0063 a0064 a0065 a0066 a0068 a0070 a0072 a0073 a0074 a0076 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0087 a0088 a0090 a0091 a0092 a0094 a0095 a0097 a0098 a0099	a0001c0001 a0001c0002 a0001c0003 others(180): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0025 a0001c0027 a0001c0028 a0001c0033 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0052 a0001c0053 a0001c0057 a0001c0058 a0001c0061 a0001c0062 a0001c0063 a0001c0069 a0001c0070 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0083 a0001c0084 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0092 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0098 a0001c0100 a0001c0102 a0001c0103 a0001c0105 a0001c0107 a0001c0114 a0001c0115 a0001c0119 a0001c0124 a0001c0127 a0001c0219 a0001c0220 a0001c0222 a0001c0223 a0002c0016 a0002c0051 a0002c0059 a0002c0060 a0002c0067 a0002c0068 a0002c0090 a0002c0101 a0002c0104 a0002c0109 a0002c0116 a0002c0125 a0002c0129 a0002c0221 a0003c0008 a0003c0026 a0003c0032 a0003c0054 a0003c0055 a0003c0056 a0003c0071 a0003c0072 a0003c0073 a0003c0074 a0003c0075 a0003c0108 a0003c0111 a0004c0005 a0004c0195 a0004c0203 a0005c0019 a0005c0020 a0005c0142 a0006c0202 a0007c0043 a0007c0044 a0008c0041 a0008c0042 a0009c0022 a0010c0024 a0011c0143 a0011c0144 a0012c0206 a0013c0023 a0014c0065 a0014c0110 a0015c0165 a0015c0168 a0016c0135 a0016c0140 a0017c0021 a0018c0188 a0018c0189 a0019c0085 a0019c0099 a0021c0153 a0022c0193 a0024c0113 a0025c0117 a0026c0034 a0028c0141 a0029c0066 a0030c0180 a0031c0185 a0032c0192 a0033c0148 a0034c0182 a0035c0171 a0037c0161 a0038c0146 a0039c0157 a0043c0218 a0044c0170 a0045c0197 a0047c0207 a0048c0097 a0049c0217 a0052c0200 a0053c0215 a0054c0150 a0056c0160 a0057c0046 a0059c0151 a0060c0132 a0062c0091 a0063c0145 a0064c0131 a0065c0152 a0066c0040 a0068c0149 a0070c0156 a0072c0169 a0073c0138 a0074c0139 a0076c0163 a0078c0154 a0079c0210 a0080c0155 a0081c0164 a0082c0166 a0083c0147 a0084c0136 a0085c0134 a0087c0130 a0088c0133 a0090c0159 a0091c0167 a0092c0031 a0094c0158 a0095c0029 a0097c0118 a0098c0178 a0099c0162	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(181): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0015t0002 a0001c0017t0001 a0001c0018t0001 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0001c0033t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0052t0001 a0001c0053t0001 a0001c0057t0001 a0001c0058t0003 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0069t0001 a0001c0070t0003 a0001c0076t0001 a0001c0077t0001 a0001c0078t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0001c0082t0002 a0001c0083t0001 a0001c0084t0001 a0001c0086t0001 a0001c0087t0001 a0001c0088t0001 a0001c0089t0001 a0001c0092t0001 a0001c0093t0001 a0001c0094t0001 a0001c0095t0001 a0001c0096t0001 a0001c0098t0001 a0001c0100t0001 a0001c0102t0001 a0001c0103t0001 a0001c0105t0001 a0001c0107t0001 a0001c0114t0001 a0001c0115t0001 a0001c0119t0001 a0001c0124t0001 a0001c0127t0001 a0001c0219t0001 a0001c0220t0001 a0001c0222t0001 a0001c0223t0001 a0002c0016t0001 a0002c0051t0001 a0002c0059t0001 a0002c0060t0001 a0002c0067t0001 a0002c0068t0001 a0002c0090t0001 a0002c0101t0001 a0002c0104t0001 a0002c0109t0001 a0002c0116t0001 a0002c0125t0001 a0002c0129t0001 a0002c0221t0001 a0003c0008t0001 a0003c0026t0001 a0003c0032t0001 a0003c0054t0001 a0003c0055t0001 a0003c0056t0001 a0003c0071t0001 a0003c0072t0001 a0003c0073t0001 a0003c0074t0001 a0003c0075t0001 a0003c0108t0001 a0003c0111t0001 a0004c0005t0002 a0004c0195t0002 a0004c0203t0002 a0005c0019t0002 a0005c0020t0001 a0005c0020t0002 a0005c0142t0002 a0006c0202t0002 a0007c0043t0001 a0007c0044t0001 a0008c0041t0001 a0008c0042t0001 a0009c0022t0002 a0010c0024t0002 a0011c0143t0002 a0011c0144t0002 a0012c0206t0002 a0013c0023t0002 a0014c0065t0001 a0014c0110t0001 a0015c0165t0002 a0015c0168t0002 a0016c0135t0002 a0016c0140t0002 a0017c0021t0002 a0018c0188t0002 a0018c0189t0002 a0019c0085t0001 a0019c0099t0001 a0021c0153t0002 a0022c0193t0002 a0024c0113t0001 a0025c0117t0001 a0026c0034t0001 a0028c0141t0002 a0029c0066t0001 a0030c0180t0002 a0031c0185t0002 a0032c0192t0002 a0033c0148t0002 a0034c0182t0002 a0035c0171t0002 a0037c0161t0002 a0038c0146t0002 a0039c0157t0002 a0043c0218t0002 a0044c0170t0002 a0045c0197t0002 a0047c0207t0002 a0048c0097t0001 a0049c0217t0002 a0052c0200t0002 a0053c0215t0002 a0054c0150t0002 a0056c0160t0002 a0057c0046t0001 a0059c0151t0002 a0060c0132t0002 a0062c0091t0001 a0063c0145t0002 a0064c0131t0002 a0065c0152t0002 a0066c0040t0001 a0068c0149t0002 a0070c0156t0002 a0072c0169t0002 a0073c0138t0002 a0074c0139t0002 a0076c0163t0002 a0078c0154t0002 a0079c0210t0002 a0080c0155t0002 a0081c0164t0002 a0082c0166t0002 a0083c0147t0002 a0084c0136t0002 a0085c0134t0002 a0087c0130t0001 a0088c0133t0004 a0090c0159t0002 a0091c0167t0002 a0092c0031t0001 a0094c0158t0002 a0095c0029t0001 a0097c0118t0001 a0098c0178t0002 a0099c0162t0002	a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0064 others(208): Show a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0111 a0001c0002t0001g0067 a0001c0002t0001g0120 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0003t0001g0054 a0001c0003t0001g0128 a0001c0003t0001g0151 a0001c0004t0001g0015 a0001c0004t0001g0065 a0001c0004t0001g0083 a0001c0006t0001g0068 a0001c0006t0001g0074 a0001c0007t0001g0119 a0001c0007t0001g0125 a0001c0009t0001g0101 a0001c0009t0001g0123 a0001c0010t0001g0124 a0001c0010t0001g0131 a0001c0011t0001g0093 a0001c0011t0001g0152 a0001c0012t0001g0086 a0001c0012t0001g0107 a0001c0013t0001g0085 a0001c0013t0001g0143 a0001c0014t0001g0042 a0001c0014t0001g0149 a0001c0015t0002g0137 a0001c0015t0002g0138 a0001c0017t0001g0034 a0001c0017t0001g0061 a0001c0018t0001g0099 a0001c0025t0001g0142 a0001c0027t0001g0114 a0001c0028t0001g0002 a0001c0033t0001g0103 a0001c0035t0001g0033 a0001c0036t0001g0117 a0001c0037t0001g0139 a0001c0038t0001g0066 a0001c0039t0001g0081 a0001c0047t0001g0030 a0001c0048t0001g0088 a0001c0049t0001g0089 a0001c0050t0001g0024 a0001c0052t0001g0091 a0001c0053t0001g0050 a0001c0057t0001g0116 a0001c0058t0003g0121 a0001c0061t0001g0009 a0001c0062t0001g0106 a0001c0063t0001g0029 a0001c0069t0001g0092 a0001c0070t0003g0082 a0001c0076t0001g0012 a0001c0077t0001g0110 a0001c0078t0001g0032 a0001c0079t0001g0109 a0001c0080t0001g0132 a0001c0081t0001g0112 a0001c0082t0002g0136 a0001c0083t0001g0148 a0001c0084t0001g0075 a0001c0086t0001g0122 a0001c0087t0001g0134 a0001c0088t0001g0133 a0001c0089t0001g0146 a0001c0092t0001g0041 a0001c0093t0001g0016 a0001c0094t0001g0037 a0001c0095t0001g0150 a0001c0096t0001g0019 a0001c0098t0001g0036 a0001c0100t0001g0026 a0001c0102t0001g0039 a0001c0103t0001g0055 a0001c0105t0001g0052 a0001c0107t0001g0153 a0001c0114t0001g0048 a0001c0115t0001g0049 a0001c0119t0001g0003 a0001c0124t0001g0022 a0001c0127t0001g0097 a0001c0219t0001g0040 a0001c0220t0001g0047 a0001c0222t0001g0046 a0001c0223t0001g0017 a0002c0016t0001g0023 a0002c0016t0001g0038 a0002c0051t0001g0213 a0002c0059t0001g0057 a0002c0060t0001g0035 a0002c0067t0001g0059 a0002c0068t0001g0229 a0002c0090t0001g0008 a0002c0101t0001g0056 a0002c0104t0001g0051 a0002c0109t0001g0027 a0002c0116t0001g0072 a0002c0125t0001g0053 a0002c0129t0001g0044 a0002c0221t0001g0258 a0003c0008t0001g0025 a0003c0008t0001g0073 a0003c0026t0001g0076 a0003c0032t0001g0011 a0003c0054t0001g0115 a0003c0055t0001g0113 a0003c0056t0001g0080 a0003c0071t0001g0013 a0003c0072t0001g0145 a0003c0073t0001g0005 a0003c0074t0001g0141 a0003c0075t0001g0129 a0003c0108t0001g0071 a0003c0111t0001g0078 a0004c0005t0002g0232 a0004c0005t0002g0235 a0004c0195t0002g0252 a0004c0203t0002g0249 a0005c0019t0002g0183 a0005c0019t0002g0185 a0005c0020t0001g0126 a0005c0020t0002g0188 a0005c0142t0002g0172 a0006c0202t0002g0254 a0007c0043t0001g0020 a0007c0044t0001g0118 a0008c0041t0001g0102 a0008c0042t0001g0031 a0009c0022t0002g0156 a0009c0022t0002g0164 a0010c0024t0002g0212 a0010c0024t0002g0248 a0011c0143t0002g0251 a0011c0144t0002g0218 a0012c0206t0002g0222 a0013c0023t0002g0215 a0014c0065t0001g0108 a0014c0110t0001g0058 a0015c0165t0002g0255 a0015c0168t0002g0178 a0016c0135t0002g0239 a0016c0140t0002g0230 a0017c0021t0002g0205 a0017c0021t0002g0217 a0018c0188t0002g0226 a0018c0189t0002g0240 a0019c0085t0001g0130 a0019c0099t0001g0079 a0021c0153t0002g0184 a0022c0193t0002g0163 a0024c0113t0001g0077 a0025c0117t0001g0007 a0026c0034t0001g0087 a0028c0141t0002g0244 a0029c0066t0001g0062 a0030c0180t0002g0233 a0031c0185t0002g0162 a0032c0192t0002g0253 a0033c0148t0002g0182 a0034c0182t0002g0227 a0035c0171t0002g0216 a0037c0161t0002g0256 a0038c0146t0002g0157 a0039c0157t0002g0241 a0043c0218t0002g0207 a0044c0170t0002g0238 a0045c0197t0002g0223 a0047c0207t0002g0231 a0048c0097t0001g0135 a0049c0217t0002g0228 a0052c0200t0002g0225 a0053c0215t0002g0250 a0054c0150t0002g0203 a0056c0160t0002g0246 a0057c0046t0001g0004 a0059c0151t0002g0204 a0060c0132t0002g0154 a0062c0091t0001g0028 a0063c0145t0002g0202 a0064c0131t0002g0200 a0065c0152t0002g0199 a0066c0040t0001g0006 a0068c0149t0002g0177 a0070c0156t0002g0206 a0072c0169t0002g0209 a0073c0138t0002g0210 a0074c0139t0002g0211 a0076c0163t0002g0201 a0078c0154t0002g0180 a0079c0210t0002g0221 a0080c0155t0002g0179 a0081c0164t0002g0186 a0082c0166t0002g0220 a0083c0147t0002g0245 a0084c0136t0002g0237 a0085c0134t0002g0219 a0087c0130t0001g0095 a0088c0133t0004g0214 a0090c0159t0002g0242 a0091c0167t0002g0181 a0092c0031t0001g0094 a0094c0158t0002g0247 a0095c0029t0001g0084 a0097c0118t0001g0060 a0098c0178t0002g0224 a0099c0162t0002g0001	211	258	0.8178	-120	c.260 others(17): Show c.260-6693_260-6574del	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HPS4_chr22_26445882_26488783	26487231	ATCTTAAG others(113): Show ATCTTAAGTGAAAAGTTGGTATCTTATTGGAATGCACGGCTTTTTTTGTT TTGCTAAATTCAGTACCAGTACAATAAAAGGAGAGACAAGAGAACCTACC TCTACATGAGAAGACTTAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0021 a0003c0003t0021	a0003c0003t0021g0066 a0003c0003t0021g0066	1	404	0.0025	-120	c.-41 others(11): Show c.-4156_-4037del	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding		3449		chr22	TogoVar
HRH3_chr20_62209960_62225278	62213051	TGGGTGGG others(113): Show TGGGTGGGGGAAGGAGAGCGGGGATGGGGGGTAAGGAGAGCGGGGATGGG TGGGGGAAGGAGAGCGGGGATGGGGGGTAAGGAGAGTGGGGATGGGTGGG GGAAGGAGAGCGGGGATGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01070.hp1 others(1): Show HG00280.hp2 HG00323.hp2 HG01070.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	368	0.0109	-120	c.28 others(11): Show c.2835_*2954del	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1908		chr20	TogoVar
HS3ST3B1_chr17_14296081_14354404	14349487	TGCGCACA others(113): Show TGCGCACACACACACACACACACACACACACACACACACACACAGAGTCA TTCTGAGGGCAAGCTGATCTTTCAGATTTTAAAGGGTCCAATCCAATATA CAACTAATCCACAAGCATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0384 a0001c0001t0064g0384	1	432	0.0023	-120	c.38 others(11): Show c.3842_*3961del	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding		84		chr17	TogoVar
IDI2_chr10_1013910_1030859	1016759	ATAACTGT others(113): Show ATAACTGTGCTGGGCTTAAGAGAAAAGAGATGTAACAGGGATAACTGTGC TGGGCTTAAGAGAAAAGAGATGTAACAGGGGTAACTGTGCTGGGCTTAAG AGAAAAGAGATGTAACAGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02965.hp1 others(3): Show HG02647.hp2 HG02809.hp1 HG02965.hp1 HG03098.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0127 a0001c0001t0002g0144 a0001c0001t0002g0178 others(2): Show a0001c0001t0002g0127 a0001c0001t0002g0144 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0002t0002g0027	6	434	0.0138	-120	c.26 others(11): Show c.2638_*2757del	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		2150		chr10	TogoVar
IL32_chr16_3060640_3074530	3066910	CGGCCCAC others(113): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG00733.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0156 a0001c0001t0001g0161	2	458	0.0044	-120	c.16- others(13): Show c.16-380_16-261del	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066997	CGCAGGCC others(113): Show CGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCT GCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGA GGAGGGGTCACCTAGGCCCAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01069.hp2 others(28): Show HG00438.hp2 HG00544.hp2 HG01069.hp2 HG01361.hp1 HG01515.hp2 HG01952.hp1 HG02129.hp1 HG02273.hp2 HG02602.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 NA18747.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18971.hp1 NA18973.hp2 NA18981.hp1 NA18985.hp1 NA18994.hp2 NA18997.hp2 NA19011.hp1 NA19012.hp2 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19090.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 a0001c0001t0001 a0001c0001t0002 a0003c0005t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0038 others(26): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0113 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0285 a0001c0001t0001g0315 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0002g0214 a0001c0001t0002g0399 a0003c0005t0001g0106	31	458	0.0677	-120	c.16- others(13): Show c.16-377_16-258del	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3067000	AGGCCCTG others(113): Show AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00735.hp1 others(41): Show HG00423.hp2 HG00544.hp1 HG00735.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG02040.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp1 NA18939.hp1 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18998.hp2 NA19055.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0004c0009t0001 a0001c0001t0001 a0001c0001t0003 a0004c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0026 others(39): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0288 a0001c0001t0001g0303 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0332 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0377 a0001c0001t0001g0379 a0001c0001t0001g0383 a0001c0001t0003g0128 a0004c0009t0001g0012	44	458	0.0961	-120	c.16- others(13): Show c.16-363_16-244del	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITPR1_chr3_4488348_4852506	4619592	CCTCCCCT others(113): Show CCTCCCCTGCTCTCCTCTGCCCTCCCCTGCTCTCCTCTGCTCTCCCCTGC TCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGC TCTCCCCTGCTCTCCTCTGCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01884.hp2 others(2): Show HG00741.hp2 HG01261.hp2 HG01884.hp2 HG03139.hp2 HG03654.hp2	a0001 a0001	a0001c0010 a0001c0011 a0001c0014 others(2): Show a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0068	a0001c0010t0001 a0001c0011t0008 a0001c0014t0001 others(2): Show a0001c0010t0001 a0001c0011t0008 a0001c0014t0001 a0001c0015t0001 a0001c0068t0004	a0001c0010t0001g0150 a0001c0011t0008g0047 a0001c0014t0001g0064 others(2): Show a0001c0010t0001g0150 a0001c0011t0008g0047 a0001c0014t0001g0064 a0001c0015t0001g0041 a0001c0068t0004g0174	5	176	0.0284	-120	c.164 others(17): Show c.164-8151_164-8032del	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4619646	CTCTGCTC others(113): Show CTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTC CCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTC CTCTGCCCTCCCCTCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp1 HG02055.hp1 others(1): Show HG01255.hp1 HG01516.hp1 HG02055.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0020 others(1): Show a0001c0002 a0001c0003 a0001c0020 a0001c0050	a0001c0002t0002 a0001c0003t0003 a0001c0020t0001 others(1): Show a0001c0002t0002 a0001c0003t0003 a0001c0020t0001 a0001c0050t0004	a0001c0002t0002g0074 a0001c0003t0003g0155 a0001c0020t0001g0081 others(1): Show a0001c0002t0002g0074 a0001c0003t0003g0155 a0001c0020t0001g0081 a0001c0050t0004g0134	4	176	0.0227	-120	c.164 others(17): Show c.164-8111_164-7992del	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4619652	TCTCCCCT others(113): Show TCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGC TCTCCTCTGCTCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGC CCTCCCCTCCTCTCTTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp1 HG02970.hp2 others(1): Show HG02895.hp1 HG02965.hp1 HG02970.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0021	a0001c0001t0002 a0001c0002t0001 a0001c0008t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0008t0001 a0001c0021t0007	a0001c0001t0002g0018 a0001c0002t0001g0028 a0001c0008t0001g0020 others(1): Show a0001c0001t0002g0018 a0001c0002t0001g0028 a0001c0008t0001g0020 a0001c0021t0007g0011	4	176	0.0227	-120	c.164 others(17): Show c.164-8091_164-7972del	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26784992	GCAACCCT others(113): Show GCAACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTG AGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGG AGCCCCTCCGTCCGGCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp1 others(56): Show HG00140.hp1 HG00323.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01256.hp1 HG01433.hp1 HG01496.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02109.hp2 HG02132.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18747.hp2 NA18906.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA19056.hp2 NA19090.hp1 NA19090.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0011	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0016 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0035 a0001c0040 a0001c0042 a0001c0043 a0001c0045 a0001c0048 a0002c0009 a0002c0010 a0002c0017 a0002c0052 a0003c0041 a0003c0047 a0005c0067 a0009c0050 a0011c0039	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(48): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0052 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0017 a0001c0002t0029 a0001c0003t0001 a0001c0003t0014 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0004t0011 a0001c0004t0048 a0001c0005t0002 a0001c0005t0005 a0001c0005t0016 a0001c0005t0031 a0001c0006t0003 a0001c0007t0005 a0001c0008t0043 a0001c0011t0002 a0001c0012t0005 a0001c0012t0006 a0001c0012t0039 a0001c0016t0042 a0001c0018t0047 a0001c0019t0005 a0001c0019t0011 a0001c0020t0001 a0001c0021t0006 a0001c0022t0002 a0001c0035t0027 a0001c0040t0005 a0001c0042t0025 a0001c0043t0054 a0001c0045t0001 a0001c0048t0012 a0002c0009t0041 a0002c0010t0007 a0002c0017t0018 a0002c0052t0001 a0003c0041t0003 a0003c0047t0004 a0005c0067t0003 a0009c0050t0003 a0011c0039t0001	a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 others(56): Show a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0003g0065 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0010g0127 a0001c0001t0052g0134 a0001c0002t0001g0071 a0001c0002t0006g0015 a0001c0002t0007g0014 a0001c0002t0017g0070 a0001c0002t0029g0072 a0001c0003t0001g0037 a0001c0003t0001g0061 a0001c0003t0014g0038 a0001c0003t0014g0099 a0001c0003t0023g0135 a0001c0003t0033g0081 a0001c0004t0001g0018 a0001c0004t0003g0093 a0001c0004t0010g0118 a0001c0004t0011g0128 a0001c0004t0048g0115 a0001c0005t0002g0039 a0001c0005t0005g0086 a0001c0005t0016g0025 a0001c0005t0031g0104 a0001c0006t0003g0048 a0001c0007t0005g0041 a0001c0008t0043g0111 a0001c0011t0002g0035 a0001c0012t0005g0023 a0001c0012t0006g0080 a0001c0012t0039g0079 a0001c0016t0042g0107 a0001c0018t0047g0112 a0001c0019t0005g0042 a0001c0019t0011g0119 a0001c0020t0001g0085 a0001c0021t0006g0033 a0001c0022t0002g0004 a0001c0035t0027g0026 a0001c0040t0005g0019 a0001c0042t0025g0001 a0001c0043t0054g0140 a0001c0045t0001g0098 a0001c0048t0012g0084 a0002c0009t0041g0110 a0002c0010t0007g0083 a0002c0017t0018g0108 a0002c0017t0018g0109 a0002c0052t0001g0073 a0003c0041t0003g0091 a0003c0047t0004g0076 a0005c0067t0003g0007 a0009c0050t0003g0016 a0011c0039t0001g0022	59	142	0.4155	-120	c.163 others(17): Show c.163+5045_163+5164del	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
JAM3_chr11_134064072_134157001	134092275	GCCCTCCT others(113): Show GCCCTCCTTATTCATCATGTTCCACCTTAAACGTCACTTCCTGAGGGAAG CTTCTCCTGAACCCTCCTTATTCATCATGTTCCACCTTAAACGTCACTTC CTGAGGGAAGCTTCTCCTGAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	390	0.0026	-120	c.76+ others(17): Show c.76+23236_76+23355del	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134093762	ACGTCACT others(113): Show ACGTCACTTCCTGAGGGAAGCTTCTCCTGAACCCTCCTTATTCATCATGT TCCACCTTACATCTTATTCATCATGTTCCATCTTACATGTCACTTCCTGA GGGAAGCTTCTCCTGAACCCT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	390	0.0026	-120	c.76+ others(17): Show c.76+24605_76+24724del	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar

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